ATP7B (ATPase copper transporting beta)

Gene

• Entrez ID: 540
• Gene name: ATPase copper transporting beta
• Gene symbol: ATP7B
• Synonyms (NCBI Gene): PWD, WC1, WD, WND
• Chromosome: 13
• Chromosome location: 13q14.3
• Summary: This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This prote

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28942074	C>A,T	Pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs28942075	C>G,T	Pathogenic-likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs28942076	C>A,T	Pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs41292782	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs60431989	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs60986317	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs61733679	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs61733680	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs72552255	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs72552259	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72552285	C>A,G,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs74904335	G>A	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs76151636	G>A,T	Pathogenic	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs114771537	G>A	Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs116587608	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs121907990	T>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121907992	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121907993	G>A,C,T	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant, synonymous variant, non coding transcript variant
rs121907994	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs121907996	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121907997	G>A,C	Likely-pathogenic, pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs121907998	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs121907999	G>A	Pathogenic-likely-pathogenic, pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs121908000	A>G	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs121908001	C>T	Likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs137853279	C>A,T	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs137853280	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant
rs137853281	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs137853283	C>T	Pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs137853284	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs137853285	C>T	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs137853287	G>-,GG	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs138427376	A>C,G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs140708492	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs143556945	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs145798966	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs146303208	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs148399850	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs181250704	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs184388696	C>A,T	Likely-pathogenic	Splice donor variant
rs186924074	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs187200982	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs189601972	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs191312027	C>A,T	Pathogenic-likely-pathogenic, uncertain-significance, pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs193922100	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 3 prime UTR variant
rs193922102	A>C,G	Pathogenic-likely-pathogenic	Intron variant
rs193922103	T>C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs193922104	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs193922107	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs193922109	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs193922110	C>G,T	Pathogenic-likely-pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs193922111	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs199623434	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs199821556	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs200450017	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200606656	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs200911496	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs200996053	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, synonymous variant
rs201038679	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201254466	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant, intron variant
rs201497300	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201738967	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs367956522	T>C	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant, intron variant
rs370579582	C>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Intron variant
rs371840514	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs372436901	T>C,G	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs372979339	G>A	Likely-benign, benign, likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, intron variant
rs373081328	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs374094065	T>G	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs375007352	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs376355660	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs376910645	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs377267217	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs377297166	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs398123137	A>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs540935874	C>G,T	Likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs541208827	C>T	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs558037268	TT>-,TTT	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs560952220	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs568009639	T>G	Pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs572147914	G>A,T	Benign, pathogenic	Intron variant, non coding transcript variant, stop gained, synonymous variant, coding sequence variant
rs587783299	C>G	Uncertain-significance, pathogenic-likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs587783301	T>C	Uncertain-significance, likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs587783306	C>T	Pathogenic-likely-pathogenic	Intron variant, splice donor variant
rs587783307	T>C,G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs587783309	G>A	Benign, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs587783315	G>A,C	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, missense variant, coding sequence variant
rs587783317	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs587783318	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs746485916	G>A,C	Pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs748819198	C>T	Likely-pathogenic	Splice donor variant
rs748924063	->A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs749085322	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs749472361	G>A,C	Pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs750019452	G>A	Pathogenic-likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs751078884	C>G,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs751202110	G>A,C,T	Pathogenic, likely-benign	Intron variant, non coding transcript variant, stop gained, synonymous variant, coding sequence variant
rs751287778	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs751710854	G>A	Pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs751798708	A>C	Likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs752850609	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs753236073	G>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs753250853	A>T	Pathogenic-likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs753594031	C>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs753962912	AT>-	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs755554442	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs755584106	G>A,C,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs755709270	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs756029120	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs756929892	G>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs757265256	T>C	Likely-pathogenic	Splice acceptor variant
rs758355520	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs759749626	A>T	Likely-pathogenic	Splice donor variant
rs761084829	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, intron variant, missense variant
rs761632029	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs762031690	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs764131178	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs764551529	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs766149114	C>G,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs768671894	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs768729972	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs769484789	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs770020484	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs770829226	A>C	Pathogenic-likely-pathogenic	Intron variant
rs771603301	CA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs773385516	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs774028495	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs774221179	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs775055397	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs775541743	A>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs776280797	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs776572343	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs776848753	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs777362050	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs777629392	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs778490238	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs778675259	G>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs778749563	C>A,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs778825095	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs779323689	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs779494870	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs779904655	CATATAG>-	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs780327716	A>-	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs781266802	GAACCA>-	Pathogenic-likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs781531824	->A	Conflicting-interpretations-of-pathogenicity	Splice donor variant
rs786204483	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs786204547	C>G,T	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs786204570	->G	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs786204578	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs786204584	T>C	Likely-pathogenic	Splice acceptor variant
rs786204643	C>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs786204658	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs786204718	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs786204764	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs797045083	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs797045402	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863224848	G>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886041336	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042519	CCC>-,CC	Pathogenic, uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant, inframe deletion, non coding transcript variant
rs886043238	->GACCT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886043423	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs911589273	T>A	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, stop gained
rs964976261	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs996419100	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs1023530194	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1038582488	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1045194246	A>C,T	Pathogenic-likely-pathogenic	Intron variant
rs1057516227	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516228	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516305	C>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1057516380	G>T	Likely-pathogenic	Coding sequence variant, intron variant, stop gained, non coding transcript variant
rs1057516418	->A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1057516425	C>T	Likely-pathogenic	Splice donor variant
rs1057516479	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1057516516	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs1057516561	->G	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516643	A>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs1057516732	C>-	Likely-pathogenic	Coding sequence variant, splice donor variant, non coding transcript variant
rs1057516740	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516844	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1057516893	C>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516940	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057517024	T>C	Likely-pathogenic	Splice acceptor variant
rs1057517141	->AA	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057517191	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057517233	T>C	Pathogenic	Splice acceptor variant
rs1057517310	C>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1057517351	C>A	Likely-pathogenic	Splice acceptor variant
rs1057517384	->GC	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057517444	TTTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057518867	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520235	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1060499593	CACT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064796054	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064797072	C>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1085307057	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained, non coding transcript variant
rs1131691741	T>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1176709391	TTGGGAG>-	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1180133690	->T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, intron variant
rs1213481140	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1248002612	T>C	Likely-pathogenic	Intron variant
rs1286080173	G>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1319653818	C>G,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1331370011	TCT>C,T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1340942427	G>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1345848733	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1360279134	C>A,G,T	Pathogenic	Splice donor variant
rs1377418826	T>C,G	Pathogenic	Splice acceptor variant
rs1394999756	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1412025509	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1412593296	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1445951068	AT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1449610384	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1455758826	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1474837260	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs1486594906	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555282191	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555282316	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555282347	T>C	Likely-pathogenic	Splice acceptor variant
rs1555282816	T>G	Likely-pathogenic	Splice acceptor variant
rs1555283564	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555283900	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555283916	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555283994	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555284021	C>T	Likely-pathogenic	Splice acceptor variant
rs1555285311	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555285380	T>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555285830	GCTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555285891	T>C,G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555286522	->G	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555286628	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555286633	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555287300	->G	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555288385	AAACCGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1555288479	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1555288808	GC>A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555290800	A>C	Likely-pathogenic	Splice donor variant
rs1555290810	TTA>AT	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555290925	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1555291147	T>C	Pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1555291195	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1555291207	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1555291285	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1555291784	AGAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1555291801	C>A	Pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1555291848	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1555291870	->TA,TATA	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1555293357	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555294199	CCCACAGTACTTACTGTCAGCTCA>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant, non coding transcript variant
rs1555294398	T>G	Likely-pathogenic	Splice acceptor variant
rs1555295017	->C	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555296015	ATT>TATA	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555296356	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1555296414	->A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1555296472	A>C	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1555296939	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1566441447	AAAT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1566462533	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1566468784	->TGGCACTGCCTGGC	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1566468816	ACA>TGGCACTGCCTGGCACT	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1566498495	G>T	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1566532164	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1566560096	TCCCTGTGATCTGCAACACAGGATGGCAAGAATCCCA>-	Pathogenic	Non coding transcript variant, coding sequence variant, splice acceptor variant, intron variant
rs1566580253	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1566598496	CTTACAA>-	Pathogenic	Splice donor variant, intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1593645393	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1593646131	->TG	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1593671769	A>G	Likely-pathogenic	Splice donor variant
rs1593672840	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1593681941	T>-	Pathogenic	Splice acceptor variant
rs1593726081	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1593726648	G>-	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1593733949	A>T	Likely-pathogenic	Intron variant
rs1593775055	TTGCAGGGAGCCTCCCA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1593787789	CC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027481	hsa-miR-98-5p	Microarray	19088304
MIRT029106	hsa-miR-26b-5p	Microarray	19088304
MIRT050131	hsa-miR-26a-5p	CLASH	23622248
MIRT050033	hsa-miR-27a-3p	CLASH	23622248
MIRT046616	hsa-miR-222-3p	CLASH	23622248
MIRT046229	hsa-miR-27b-3p	CLASH	23622248
MIRT039780	hsa-miR-615-3p	CLASH	23622248
MIRT039602	hsa-miR-616-5p	CLASH	23622248
MIRT809606	hsa-miR-1238	CLIP-seq
MIRT809607	hsa-miR-1322	CLIP-seq
MIRT809608	hsa-miR-1324	CLIP-seq
MIRT809609	hsa-miR-3186-5p	CLIP-seq
MIRT809610	hsa-miR-3922-5p	CLIP-seq
MIRT809611	hsa-miR-4330	CLIP-seq
MIRT809612	hsa-miR-4452	CLIP-seq
MIRT809613	hsa-miR-4457	CLIP-seq
MIRT809614	hsa-miR-4684-5p	CLIP-seq
MIRT809615	hsa-miR-4691-5p	CLIP-seq
MIRT809616	hsa-miR-4717-3p	CLIP-seq
MIRT809617	hsa-miR-4724-5p	CLIP-seq
MIRT809618	hsa-miR-4731-3p	CLIP-seq
MIRT809619	hsa-miR-4753-5p	CLIP-seq
MIRT809620	hsa-miR-4755-3p	CLIP-seq
MIRT809621	hsa-miR-4801	CLIP-seq
MIRT809622	hsa-miR-494	CLIP-seq
MIRT809623	hsa-let-7a	CLIP-seq
MIRT809624	hsa-let-7b	CLIP-seq
MIRT809625	hsa-let-7c	CLIP-seq
MIRT809626	hsa-let-7d	CLIP-seq
MIRT809627	hsa-let-7e	CLIP-seq
MIRT809628	hsa-let-7f	CLIP-seq
MIRT809629	hsa-let-7g	CLIP-seq
MIRT809630	hsa-let-7i	CLIP-seq
MIRT809631	hsa-miR-1207-3p	CLIP-seq
MIRT809632	hsa-miR-122	CLIP-seq
MIRT809633	hsa-miR-1228	CLIP-seq
MIRT809634	hsa-miR-1276	CLIP-seq
MIRT809635	hsa-miR-1286	CLIP-seq
MIRT809607	hsa-miR-1322	CLIP-seq
MIRT809636	hsa-miR-202	CLIP-seq
MIRT809637	hsa-miR-203	CLIP-seq
MIRT809638	hsa-miR-2355-5p	CLIP-seq
MIRT809639	hsa-miR-25	CLIP-seq
MIRT809640	hsa-miR-3125	CLIP-seq
MIRT809641	hsa-miR-3135b	CLIP-seq
MIRT809642	hsa-miR-32	CLIP-seq
MIRT809643	hsa-miR-3616-5p	CLIP-seq
MIRT809644	hsa-miR-3622a-3p	CLIP-seq
MIRT809645	hsa-miR-3622b-3p	CLIP-seq
MIRT809646	hsa-miR-363	CLIP-seq
MIRT809647	hsa-miR-3647-5p	CLIP-seq
MIRT809648	hsa-miR-3652	CLIP-seq
MIRT809649	hsa-miR-367	CLIP-seq
MIRT809650	hsa-miR-383	CLIP-seq
MIRT809651	hsa-miR-3916	CLIP-seq
MIRT809652	hsa-miR-4267	CLIP-seq
MIRT809653	hsa-miR-4269	CLIP-seq
MIRT809654	hsa-miR-4307	CLIP-seq
MIRT809655	hsa-miR-4311	CLIP-seq
MIRT809656	hsa-miR-4318	CLIP-seq
MIRT809611	hsa-miR-4330	CLIP-seq
MIRT809657	hsa-miR-4430	CLIP-seq
MIRT809658	hsa-miR-4447	CLIP-seq
MIRT809659	hsa-miR-4458	CLIP-seq
MIRT809660	hsa-miR-4472	CLIP-seq
MIRT809661	hsa-miR-4481	CLIP-seq
MIRT809662	hsa-miR-4492	CLIP-seq
MIRT809663	hsa-miR-4498	CLIP-seq
MIRT809664	hsa-miR-4500	CLIP-seq
MIRT809665	hsa-miR-4656	CLIP-seq
MIRT809666	hsa-miR-4722-5p	CLIP-seq
MIRT809667	hsa-miR-4745-5p	CLIP-seq
MIRT809668	hsa-miR-4760-5p	CLIP-seq
MIRT809669	hsa-miR-4772-5p	CLIP-seq
MIRT809670	hsa-miR-483-3p	CLIP-seq
MIRT809622	hsa-miR-494	CLIP-seq
MIRT809671	hsa-miR-508-5p	CLIP-seq
MIRT809672	hsa-miR-543	CLIP-seq
MIRT809673	hsa-miR-544b	CLIP-seq
MIRT809674	hsa-miR-545	CLIP-seq
MIRT809675	hsa-miR-548g	CLIP-seq
MIRT809676	hsa-miR-570	CLIP-seq
MIRT809677	hsa-miR-573	CLIP-seq
MIRT809678	hsa-miR-576-5p	CLIP-seq
MIRT809679	hsa-miR-577	CLIP-seq
MIRT809680	hsa-miR-583	CLIP-seq
MIRT809681	hsa-miR-762	CLIP-seq
MIRT809682	hsa-miR-766	CLIP-seq
MIRT809683	hsa-miR-873	CLIP-seq
MIRT809684	hsa-miR-877	CLIP-seq
MIRT809685	hsa-miR-92a	CLIP-seq
MIRT809686	hsa-miR-92b	CLIP-seq
MIRT809687	hsa-miR-98	CLIP-seq
MIRT809623	hsa-let-7a	CLIP-seq
MIRT809624	hsa-let-7b	CLIP-seq
MIRT809625	hsa-let-7c	CLIP-seq
MIRT809626	hsa-let-7d	CLIP-seq
MIRT809627	hsa-let-7e	CLIP-seq
MIRT809628	hsa-let-7f	CLIP-seq
MIRT809629	hsa-let-7g	CLIP-seq
MIRT809630	hsa-let-7i	CLIP-seq
MIRT2178274	hsa-miR-1197	CLIP-seq
MIRT809631	hsa-miR-1207-3p	CLIP-seq
MIRT809633	hsa-miR-1228	CLIP-seq
MIRT809634	hsa-miR-1276	CLIP-seq
MIRT2178275	hsa-miR-1285	CLIP-seq
MIRT809635	hsa-miR-1286	CLIP-seq
MIRT809607	hsa-miR-1322	CLIP-seq
MIRT2178276	hsa-miR-139-5p	CLIP-seq
MIRT2178277	hsa-miR-140-3p	CLIP-seq
MIRT809636	hsa-miR-202	CLIP-seq
MIRT809637	hsa-miR-203	CLIP-seq
MIRT809638	hsa-miR-2355-5p	CLIP-seq
MIRT2178278	hsa-miR-29a	CLIP-seq
MIRT2178279	hsa-miR-29b	CLIP-seq
MIRT2178280	hsa-miR-29c	CLIP-seq
MIRT2178281	hsa-miR-30a	CLIP-seq
MIRT2178282	hsa-miR-30b	CLIP-seq
MIRT2178283	hsa-miR-30c	CLIP-seq
MIRT2178284	hsa-miR-30d	CLIP-seq
MIRT2178285	hsa-miR-30e	CLIP-seq
MIRT2178286	hsa-miR-3187-5p	CLIP-seq
MIRT2178287	hsa-miR-3607-3p	CLIP-seq
MIRT809644	hsa-miR-3622a-3p	CLIP-seq
MIRT809645	hsa-miR-3622b-3p	CLIP-seq
MIRT2178288	hsa-miR-3660	CLIP-seq
MIRT2178289	hsa-miR-3662	CLIP-seq
MIRT2178290	hsa-miR-3675-5p	CLIP-seq
MIRT809650	hsa-miR-383	CLIP-seq
MIRT2178291	hsa-miR-3921	CLIP-seq
MIRT809652	hsa-miR-4267	CLIP-seq
MIRT809653	hsa-miR-4269	CLIP-seq
MIRT2178292	hsa-miR-4275	CLIP-seq
MIRT809655	hsa-miR-4311	CLIP-seq
MIRT809656	hsa-miR-4318	CLIP-seq
MIRT2178293	hsa-miR-432	CLIP-seq
MIRT809611	hsa-miR-4330	CLIP-seq
MIRT2178294	hsa-miR-4438	CLIP-seq
MIRT809659	hsa-miR-4458	CLIP-seq
MIRT2178295	hsa-miR-4470	CLIP-seq
MIRT809664	hsa-miR-4500	CLIP-seq
MIRT2178296	hsa-miR-4505	CLIP-seq
MIRT2178297	hsa-miR-4526	CLIP-seq
MIRT2178298	hsa-miR-455-3p	CLIP-seq
MIRT2178299	hsa-miR-4649-3p	CLIP-seq
MIRT2178300	hsa-miR-4653-5p	CLIP-seq
MIRT809666	hsa-miR-4722-5p	CLIP-seq
MIRT809668	hsa-miR-4760-5p	CLIP-seq
MIRT809669	hsa-miR-4772-5p	CLIP-seq
MIRT809670	hsa-miR-483-3p	CLIP-seq
MIRT2178301	hsa-miR-486-3p	CLIP-seq
MIRT809622	hsa-miR-494	CLIP-seq
MIRT2178302	hsa-miR-498	CLIP-seq
MIRT2178303	hsa-miR-502-5p	CLIP-seq
MIRT809671	hsa-miR-508-5p	CLIP-seq
MIRT2178304	hsa-miR-520a-5p	CLIP-seq
MIRT2178305	hsa-miR-525-5p	CLIP-seq
MIRT809672	hsa-miR-543	CLIP-seq
MIRT809673	hsa-miR-544b	CLIP-seq
MIRT809674	hsa-miR-545	CLIP-seq
MIRT809675	hsa-miR-548g	CLIP-seq
MIRT809679	hsa-miR-577	CLIP-seq
MIRT809680	hsa-miR-583	CLIP-seq
MIRT2178306	hsa-miR-612	CLIP-seq
MIRT809682	hsa-miR-766	CLIP-seq
MIRT809687	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0000166	Function	Nucleotide binding	IEA
GO:0005375	Function	Copper ion transmembrane transporter activity	IDA	26004889
GO:0005375	Function	Copper ion transmembrane transporter activity	IEA
GO:0005507	Function	Copper ion binding	IBA
GO:0005507	Function	Copper ion binding	IDA	12029094, 14709553
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12968035, 16554302, 16676348, 16884690, 17919502
GO:0005524	Function	ATP binding	IDA	15205462, 16567646
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IDA	15681833
GO:0005770	Component	Late endosome	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	15269005, 16472602
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS	8298641
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006825	Process	Copper ion transport	IDA	26004889
GO:0006825	Process	Copper ion transport	IEA
GO:0006825	Process	Copper ion transport	IEA
GO:0006825	Process	Copper ion transport	IGI	12572677, 26004889
GO:0006825	Process	Copper ion transport	IMP	9837819
GO:0006878	Process	Intracellular copper ion homeostasis	IBA
GO:0006878	Process	Intracellular copper ion homeostasis	IEA
GO:0006878	Process	Intracellular copper ion homeostasis	TAS	16554302
GO:0006882	Process	Intracellular zinc ion homeostasis	IEA
GO:0007595	Process	Lactation	IEA
GO:0015677	Process	Copper ion import	IBA
GO:0015677	Process	Copper ion import	IDA	16472602
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	15269005
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	16472602
GO:0032588	Component	Trans-Golgi network membrane	IDA	9837819
GO:0032588	Component	Trans-Golgi network membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0043682	Function	P-type divalent copper transporter activity	IBA
GO:0043682	Function	P-type divalent copper transporter activity	IEA
GO:0043682	Function	P-type divalent copper transporter activity	IMP	9837819
GO:0043682	Function	P-type divalent copper transporter activity	NAS	12763797
GO:0043682	Function	P-type divalent copper transporter activity	TAS	16472602
GO:0046688	Process	Response to copper ion	IDA	15269005, 16472602, 16939419
GO:0046688	Process	Response to copper ion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	16939419
GO:0051208	Process	Sequestering of calcium ion	IDA	16472602
GO:0051604	Process	Protein maturation	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060003	Process	Copper ion export	IBA
GO:0075523	Process	Viral translational frameshifting	IEA
GO:0140581	Function	P-type monovalent copper transporter activity	IEA
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	IC	9837819

Other IDs

• MIM: 606882
• HGNC: 870
• e!Ensembl: ENSG00000123191

Protein

• UniProt ID: P35670
• Protein name: Copper-transporting ATPase 2 (EC 7.2.2.8) (Copper pump 2) (Wilson disease-associated protein) [Cleaved into: WND/140 kDa]
• Protein function: Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload. {ECO:
• PDB: 2ARF, 2EW9, 2KOY, 2LQB, 2N7Y, 2ROP, 6A71, 6A72, 7XUK, 7XUM, 7XUN, 7XUO, 8IOY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00403	HMA	61 → 122	Heavy-metal-associated domain	Domain
  PF00403	HMA	146 → 207	Heavy-metal-associated domain	Domain
  PF00403	HMA	260 → 320	Heavy-metal-associated domain	Domain
  PF00403	HMA	362 → 423	Heavy-metal-associated domain	Domain
  PF00403	HMA	491 → 552	Heavy-metal-associated domain	Domain
  PF00403	HMA	567 → 628	Heavy-metal-associated domain	Domain
  PF00122	E1-E2_ATPase	797 → 1005		Family
  PF00702	Hydrolase	1021 → 1279		Domain

• Tissue specificity: TISSUE SPECIFICITY: Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues.
• Sequence:

  MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATS
  TVRILGMTCQSCVKSIEDRISNLKGIISMKVSLEQGSATVKYVPSVVCLQQVCHQIGDMG
  FEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSN
  QEAVITYQPYLIQPEDLRDHVNDMGFEAAIKSKVAPLSLGPIDIERLQSTNPKRPLSSAN
  QNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQLLGVQSIQVSLENKTAQVK
  YDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCST
  TLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDM
  GFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQ
  STRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPL
  EIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALA
  TSKALVKFDPEIIGPRDIIKIIEEIGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVF
  GIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYK
  SLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWL
  EHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFP
  VDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIV
  KLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKH
  ISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHK
  IKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCK
  EELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAV
  PQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQ
  EAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGK
  KVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRR
  IRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPD
  LERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSR
  HSAAADDDGDKWSLLLNGRDEEQYI

• Sequence length: 1465

Pathways

KEGG:

Platinum drug resistance
Mineral absorption

Reactome:

Ion transport by P-type ATPases

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Epileptic encephalopathy	epileptic encephalopathy	rs201497300	N/A
Wilson Disease	wilson disease	rs199623434, rs137853281, rs770829226, rs1957027467, rs1057517191, rs753594031, rs1566560096, rs750019452, rs1566498495, rs780327716, rs751078884, rs776848753, rs568009639, rs1951995448, rs2138570625, rs778675259, rs121908001, rs1064796054, rs1593787789, rs768729972, rs1555296939, rs1555291195, rs755554442, rs1474837260, rs777629392, rs398123137, rs370579582, rs778732681, rs755584106, rs1057517310, rs377144951, rs367956522, rs1449610384, rs753962912, rs1555288385, rs786204578, rs1555285311, rs1952004098, rs28942075, rs1057516305, rs137853279, rs1064797072, rs1445951068, rs797045402, rs1555282191, rs1555291207, rs786204483, rs1555294398, rs751202110, rs137853285, rs1176709391, rs1957160342, rs771603301, rs1057516643, rs1566532164, rs786204718, rs1057517444, rs911589273, rs1555288479, rs749472361, rs1555285911, rs1957518966, rs28942076, rs193922102, rs560952220, rs1593671769, rs1085307057, rs1555283564, rs1319653818, rs753250853, rs1484840087, rs1555291801, rs137853284, rs1555285380, rs778163447, rs1057516228, rs1057516425, rs1360279134, rs766149114, rs1057517141, rs1566598496, rs759749626, rs376355660, rs758355520, rs762031690, rs1957520924, rs121907993, rs193922103, rs1593726081, rs886041336, rs1555283916, rs1248002612, rs786204584, rs1555282316, rs1555293357, rs137853283, rs1555283732, rs1228359983, rs1057516227, rs1057516732, rs1566580253, rs755709270, rs558037268, rs779494870, rs572147914, rs1555290800, rs781266802, rs1038582488, rs1958431105, rs121907990, rs72552255, rs1555285891, rs1593775055, rs886042519, rs1213481140, rs1212479289, rs371840514, rs769484789, rs768671894, rs1555294199, rs137853282, rs1555288808, rs1957877283, rs1057517233, rs1057516844, rs1566441447, rs1057517384, rs1340942427, rs786204570, rs770020484, rs776280797, rs1555290810, rs121907996, rs193922107, rs1555291147, rs1593681941, rs886043423, rs376910645, rs1555291848, rs775055397, rs1486594906, rs777362050, rs1555295017, rs201738967, rs1555282816, rs1957898187, rs1057516740, rs76151636, rs1057516380, rs1566462533, rs1057516561, rs1593672840, rs1555291870, rs786204658, rs1555290925, rs121907997, rs193922109, rs1555287300, rs756929892, rs746485916, rs1412025509, rs752850609, rs201497300, rs1555285830, rs1377418826, rs751710854, rs1555296356, rs587783299, rs373748155, rs1958499462, rs1057516479, rs121907992, rs1057516940, rs1057516516, rs1455758826, rs774221179, rs996419100, rs184388696, rs751798708, rs121907998, rs193922110, rs1394999756, rs1593733949, rs764131178, rs1555286628, rs1555296015, rs748819198, rs1566468784, rs786204764, rs1412593296, rs191312027, rs778914828, rs1958499640, rs137853280, rs1057516893, rs60431989, rs1057518867, rs964976261, rs753236073, rs773385516, rs786204547, rs1180133690, rs193922111, rs751287778, rs369488210, rs1045194246, rs761632029, rs1555296414, rs201038679, rs1555286522, rs1566468816, rs779904655, rs1555283900, rs587783306, rs1555283994, rs1958506321, rs121907994, rs1057517024, rs121907999, rs1057520235, rs776668666, rs786204643, rs778490238, rs748924063, rs1555291285, rs1555286633, rs137853287, rs1286080173, rs1023530194, rs757265256, rs374094065, rs1555296472, rs779323689, rs1331370011, rs72552285, rs778543794, rs587783317, rs1555284021, rs374172791, rs28942074, rs1057516418, rs121908000, rs1060499593, rs1593726648, rs797045083, rs761084829, rs756029120, rs1555291784	N/A
Spastic Ataxia	spastic ataxia	rs753962912	N/A

Associations from Text Mining
Disease Name	Relationship Type	References
Albinism Oculocutaneous	Associate	30558096
Alzheimer Disease	Associate	22950421
Anemia Hemolytic	Associate	31010795
Biliary Atresia	Associate	35029214
Breast Neoplasms	Associate	11802810, 35996075, 37027423, 37180167, 38259456, 39885513, 40316883
Carcinoma Hepatocellular	Associate	15154620, 27122662, 29674751, 33146201, 35908410, 37612087
Carcinoma Non Small Cell Lung	Associate	29970670, 38186308
Carcinoma Renal Cell	Associate	37612087
Chemical and Drug Induced Liver Injury	Associate	20453399, 21219664, 25390358, 31746411
Colitis Ulcerative	Associate	37904461
Copper deficiency familial benign	Associate	23963605, 25910288, 29674751, 32028086, 32270360, 33288711, 33828154, 34320232
Copper Overload Cirrhosis	Associate	23963605, 27992490, 36359796
Copper Toxicosis Idiopathic	Associate	19478447, 29330485, 33288711
Corticobasal Degeneration	Associate	36553628
Deglutition Disorders	Associate	24897373
Diabetes Mellitus	Associate	37773841
digital ulcers	Associate	40616145
Disease	Associate	24555712
Drug Related Side Effects and Adverse Reactions	Associate	32028086
Dysarthria	Associate	35220961
Dystonia	Associate	35220961
Enhanced S Cone Syndrome	Associate	36071243
Esophageal Neoplasms	Associate	37027423
Essential Tremor	Associate	11254776
Exophthalmos	Associate	39302398
Gastrointestinal Diseases	Associate	26194361, 29970670
Genetic Diseases Inborn	Associate	33828154, 35470480
Glioma	Associate	40355831
Heart Diseases	Associate	27744583
Heart Neoplasms	Associate	17171802
Hematologic Diseases	Associate	29970670
Hemolytic Uremic Syndrome	Associate	11472373
Hepatic Fibrosis Congenital	Associate	31096464
Hepatitis Chronic	Associate	32532207
Hepatolenticular Degeneration	Associate	10544227, 11415452, 11472373, 12029094, 12544487, 12551905, 12930977, 14514926, 14966923, 15205462, 15681833, 15963506, 16684691, 16709660, 17634212, 17823867, 17876883, 17919502, 18558714, 18698682, 18779302, 18809983, 18855987, 18974300, 19181666, 19338486, 19364131, 19478447, 20082719, 20346064, 20453399, 20550661, 21219664, 21398519, 21406592, 21454443, 21610751, 21682854, 22046264, 22240481, 22687675, 22720273, 22720308, 22806248, 22898812, 23518715, 23774950, 23843956, 23885147, 23963605, 23982005, 24368744, 24555712, 24892424, 24897373, 25390358, 25900953, 25910288, 26097579, 26215059, 26269689, 26660341, 26782526, 26823605, 27022412, 27122662, 27638368, 27706781, 27744583, 27935710, 27992490, 28842499, 29085216, 29330485, 29362485, 29381936, 29540233, 29649982, 29674751, 29898862, 29914392, 29930488, 30087448, 30097039, 30558096, 30576569, 30709419, 30723317, 30884209, 31010795, 31070637, 31096464, 31169307, 31482689, 31547461, 31746411, 31783295, 32028086, 32113134, 32155648, 32252475, 32270360, 32351182, 32493955, 32532207, 32532881, 32534167, 32664103, 32770663, 32778786, 32997714, 33096383, 33135151, 33197697, 33265091, 33288711, 33573009, 33640437, 33668890, 33828154, 33879678, 34117631, 34240825, 34320232, 34324271, 34439909, 34470610, 34831341, 35029214, 35220961, 35271763, 35388883, 35470480, 35763513, 35895997, 35913762, 35940888, 36071243, 36096368, 36253962, 36343861, 36359796, 36360177, 36553628, 37184530, 37386576, 37415038, 37612087, 38136617, 39267050, 39326255, 39662915, 39930861, 40257477, 40447697, 40616145, 40629618, 40661833, 40725019, 8782057, 9199563, 9307043, 9311736, 9359859, 9407118, 9654149, 9813047, 9837819
Homocystinuria	Associate	36553628
Immunologic Deficiency Syndromes	Associate	23843956
Immunologic Deficiency Syndromes	Inhibit	23843956
Kidney Neoplasms	Associate	37612087
Laryngeal Neoplasms	Associate	39302398
Legius syndrome	Associate	36071243
Lewy Body Disease	Associate	36114914
Liver Cirrhosis	Associate	18855987
Liver Diseases	Associate	34470610, 36096368
Liver Failure	Associate	29898862, 33573009, 35029214
Liver Failure Acute	Associate	31010795, 32532207
Lung Neoplasms	Associate	24852429
Mandibular Nerve Injuries	Associate	33265091
Menkes Kinky Hair Syndrome	Associate	17109627, 35913762, 9199563, 9359859, 9813047
Mental Disorders	Associate	18855987, 29540233
Metabolic Diseases	Associate	31637888
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Associate	31637888
Muscle Weakness	Associate	33265091
Neoplasms	Stimulate	11802810
Neoplasms	Associate	15154620, 28842499, 31790150, 35053335, 35908410, 37027423, 38037104
Neoplastic Syndromes Hereditary	Associate	17919502
Neurologic Manifestations	Associate	12029094, 12551905, 14966923, 32233732, 35763513
Nocturnal Enuresis	Associate	32664103
Osteoarthritis	Associate	29381936
Ovarian Diseases	Associate	25591549
Ovarian Neoplasms	Associate	25591549, 35053335
Parkinson Disease	Associate	36553628
Parkinson Disease Secondary	Associate	36114914
Pediatric acute onset neuropsychiatric syndrome	Associate	24555712
Primary Progressive Nonfluent Aphasia	Associate	36553628
Seizures	Associate	32233732
Signs and Symptoms	Associate	35220961
Skin Manifestations	Associate	14966923, 17876883
Squamous Cell Carcinoma of Head and Neck	Associate	31790150
Stomach Neoplasms	Associate	17171802
Tremor	Associate	33265091, 35220961
Triple Negative Breast Neoplasms	Associate	37259036
Uterine Cervical Neoplasms	Associate	35908410