Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	24
Gene name Gene Name - the full gene name approved by the HGNC.	ATP binding cassette subfamily A member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ABCA4
Synonyms (NCBI Gene) Gene synonyms aliases	ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ARMD2, CORD3, FFM, RP19, STGD1
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p22.1
Summary Summary of gene provided in NCBI Entrez Gene.	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct s

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1047376	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1762111	A>G	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1800548	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1800552	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1800553	C>T	Pathogenic-likely-pathogenic, likely-pathogenic, risk-factor, pathogenic	Coding sequence variant, missense variant
rs1800555	C>T	Likely-benign, risk-factor, benign-likely-benign	Coding sequence variant, missense variant
rs1800728	A>G	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Intron variant
rs1801269	C>A,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs1801466	T>A	Likely-benign, benign, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1801581	C>A,T	Likely-benign, benign, likely-pathogenic, pathogenic, not-provided, risk-factor	Coding sequence variant, missense variant
rs28938473	G>A	Likely-pathogenic, likely-benign, uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs41292677	C>G	Likely-pathogenic, likely-benign, uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs55732384	G>A	Likely-pathogenic, pathogenic, not-provided	Coding sequence variant, missense variant
rs56357060	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs58331765	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs61748520	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant
rs61748526	A>C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61748529	T>C,G	Uncertain-significance, not-provided, pathogenic	Missense variant, coding sequence variant
rs61748534	T>A,C	Pathogenic, not-provided	Splice acceptor variant
rs61748535	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61748536	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs61748537	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs61748538	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61748539	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs61748545	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs61748548	A>C,G	Uncertain-significance, pathogenic, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs61748550	G>A	Pathogenic	Stop gained, coding sequence variant
rs61748552	G>C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61748556	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61748558	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61748559	C>G,T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749409	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61749410	C>T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749412	C>A,G,T	Not-provided, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61749414	G>A,T	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs61749417	C>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61749420	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs61749422	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs61749423	G>A,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs61749427	C>A,G	Pathogenic, not-provided	Splice donor variant
rs61749428	C>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749429	C>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749433	A>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61749437	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs61749438	C>A,T	Pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs61749440	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs61749441	C>A,T	Pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs61749448	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs61749450	G>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749451	G>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749454	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs61749455	C>A,G,T	Conflicting-interpretations-of-pathogenicity, not-provided, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs61749456	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs61749457	T>C	Pathogenic	Missense variant, coding sequence variant
rs61749459	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs61750061	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61750064	->AC	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs61750065	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs61750120	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750121	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750126	A>C	Conflicting-interpretations-of-pathogenicity, pathogenic, not-provided, likely-benign, benign	Missense variant, coding sequence variant
rs61750130	G>A	Pathogenic-likely-pathogenic, pathogenic, risk-factor	Missense variant, coding sequence variant
rs61750135	A>G	Pathogenic, other	Missense variant, coding sequence variant
rs61750137	G>A	Pathogenic	Stop gained, coding sequence variant
rs61750138	C>A,T	Pathogenic, likely-pathogenic	Intron variant
rs61750141	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750142	C>T	Not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61750145	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61750146	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750147	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750152	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750155	G>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750159	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs61750200	G>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750202	C>G,T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750560	A>C	Pathogenic	Missense variant, coding sequence variant
rs61750562	A>G,T	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs61750563	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs61750564	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750566	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs61750569	CCACCAGCCCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs61750571	C>T	Pathogenic	Stop gained, coding sequence variant
rs61750633	A>G	Uncertain-significance, not-provided, likely-pathogenic	Intron variant
rs61750638	C>A,T	Not-provided, pathogenic	Splice donor variant
rs61750639	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750641	C>T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750643	G>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750644	T>A	Pathogenic	Stop gained, coding sequence variant
rs61750645	G>A,C,T	Pathogenic, likely-pathogenic, not-provided	Missense variant, coding sequence variant, synonymous variant
rs61750646	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61750648	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750654	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs61750658	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61751262	C>T	Pathogenic	Intron variant
rs61751263	C>T	Pathogenic, not-provided	Splice acceptor variant
rs61751374	G>A	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751377	C>T	Pathogenic	Splice donor variant
rs61751383	G>A	Pathogenic	Stop gained, coding sequence variant
rs61751384	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751385	A>C	Not-provided, pathogenic	Splice donor variant
rs61751386	T>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs61751388	C>A	Pathogenic, not-provided	Splice donor variant
rs61751389	C>-	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61751392	A>G	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751393	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61751394	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs61751395	A>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751397	G>A	Pathogenic	Stop gained, coding sequence variant
rs61751398	C>A,T	Pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs61751399	C>T	Pathogenic-likely-pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61751400	C>T	Not-provided, pathogenic	Splice donor variant
rs61751401	GT>-,GTGT	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs61751402	C>T	Pathogenic	Missense variant, coding sequence variant
rs61751403	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs61751404	G>A,C	Pathogenic, likely-pathogenic, other	Missense variant, coding sequence variant
rs61751405	A>C,G	Not-provided, pathogenic	Splice donor variant
rs61751406	G>T	Not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61751407	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic, not-provided	Intron variant
rs61751408	G>A	Pathogenic	Missense variant, coding sequence variant
rs61751409	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs61751410	C>T	Pathogenic	Stop gained, coding sequence variant
rs61751412	C>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61751413	C>T	Pathogenic	Splice donor variant
rs61751418	C>A,T	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs61751420	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61752390	A>C,G,T	Not-provided, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs61752391	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs61752398	A>C,G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61752401	C>T	Pathogenic	Splice donor variant
rs61752406	C>T	Pathogenic	Stop gained, coding sequence variant
rs61752410	C>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs61752411	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs61752416	T>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61752417	C>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61752419	C>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61752423	C>A,G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs61752424	G>A	Likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs61752425	C>A	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61752427	G>A	Pathogenic	Stop gained, coding sequence variant
rs61752435	T>C	Pathogenic	Splice acceptor variant
rs61752438	T>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs61752439	C>G,T	Not-provided, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs61753017	G>A,C	Likely-benign, not-provided, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs61753019	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs61753020	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753021	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753028	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753030	C>A,G,T	Not-provided, pathogenic	Splice donor variant
rs61753033	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61753034	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61753037	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753038	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs61753043	G>C	Not-provided, pathogenic	Splice donor variant
rs61753045	G>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61753046	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs61754024	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs61754030	T>C	Benign, likely-pathogenic	Missense variant, coding sequence variant
rs61754044	G>A	Pathogenic, likely-pathogenic	Intron variant
rs62642560	AG>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs62642562	G>A,C,T	Not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs62642564	C>G,T	Conflicting-interpretations-of-pathogenicity, not-provided, pathogenic-likely-pathogenic, likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs62642565	C>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs62642573	C>A,T	Pathogenic, likely-pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs62642574	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs62642575	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs62642576	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs62645944	C>A	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant
rs62645946	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs62645948	->T	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs62645952	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs62645957	C>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs62645958	C>T	Likely-benign, not-provided, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs62646860	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs62646861	G>A	Not-provided, pathogenic	Stop gained, coding sequence variant
rs62646862	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs62646863	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs62646872	GCAGATGGCAACCAC>-	Not-provided, pathogenic	Inframe deletion, coding sequence variant
rs62654395	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs62654397	G>A,C	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs63749055	GCACCGTCTTTGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749083	ATAGTTATTGTCTT>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs76157638	C>G,T	Uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs112005636	A>G,T	Likely-pathogenic	Splice donor variant
rs113106943	C>T	Likely-benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs113698006	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs114518437	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs117400594	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs121909204	G>A	Pathogenic	Missense variant, coding sequence variant
rs121909205	G>A,T	Likely-pathogenic, pathogenic	Synonymous variant, missense variant, coding sequence variant
rs121909206	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121909207	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs138475920	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs138682163	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs140482171	C>T	Not-provided, likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs141823837	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs142253670	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs142506651	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144310835	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs145483148	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs145525174	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs145961131	G>A	Pathogenic	Coding sequence variant, stop gained
rs146786552	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs147884766	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs148460146	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs149071415	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs150774447	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs187953772	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs187965758	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs188775667	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs190540405	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs200692438	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs200967229	C>T	Pathogenic	Splice donor variant
rs201117452	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201223321	A>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs201471607	T>C	Pathogenic	Missense variant, coding sequence variant
rs201738997	T>C	Pathogenic	Initiator codon variant, missense variant
rs201855602	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs281865377	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs281865382	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs281865402	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs367839100	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs367857935	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs368846708	T>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs371489809	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs374343397	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs376925793	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs377311148	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs387906385	->CA	Pathogenic	Coding sequence variant, frameshift variant
rs387906387	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs387906388	GAGAAACCCTTAGACG>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123339	T>C	Pathogenic	Splice acceptor variant
rs527236129	T>A	Pathogenic	Coding sequence variant, missense variant
rs552517556	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs568792949	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs575453437	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs745654673	C>T	Likely-pathogenic	Splice donor variant
rs746250336	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs746252741	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs746541266	G>A	Pathogenic	Stop gained, coding sequence variant
rs746566873	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs747950242	CAGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs748357067	C>T	Pathogenic	Stop gained, coding sequence variant
rs748706582	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs749526785	GCCCCAGGGCCAACT>-	Uncertain-significance, likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Intron variant
rs752147871	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs752160946	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs752786160	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs755733328	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs756840095	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs757557272	T>A,G	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs758835368	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs759672616	T>C	Pathogenic, uncertain-significance	Intron variant
rs760549861	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs760790294	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs761188244	G>A	Likely-pathogenic	Intron variant
rs761209432	C>T	Pathogenic	Coding sequence variant, stop gained
rs762150575	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs764759172	G>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs765429911	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs765707028	C>G	Pathogenic	Splice donor variant
rs766570903	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs767729255	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs768278935	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs773599043	C>A,T	Pathogenic	Splice donor variant
rs774475956	A>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs776757706	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs777415466	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs778234759	C>T	Likely-pathogenic	Intron variant
rs778747291	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs778908435	C>G,T	Pathogenic	Splice acceptor variant
rs779426136	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs779466403	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs779743222	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs781254854	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs786205445	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs786205446	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205447	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs793888523	->TTTC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs794726979	A>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs794727531	G>A	Pathogenic	Coding sequence variant, stop gained
rs794727903	G>A	Pathogenic	Coding sequence variant, stop gained
rs863223338	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs865990202	C>T	Pathogenic	Coding sequence variant, stop gained
rs869312184	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs869320785	G>A	Likely-pathogenic, uncertain-significance	Intron variant
rs878853396	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs878853397	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886039299	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs886039882	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs886041554	C>A	Pathogenic	Initiator codon variant, missense variant
rs886041951	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs886042034	T>A	Pathogenic	Splice acceptor variant
rs886042319	ACAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042320	AATTCTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042904	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044148	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044719	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886044720	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886044721	A>G	Pathogenic	Splice donor variant
rs886044722	C>T	Pathogenic	Coding sequence variant, stop gained
rs886044725	C>T	Pathogenic	Coding sequence variant, stop gained
rs886044726	T>C	Pathogenic	Splice acceptor variant
rs886044727	G>T	Pathogenic	Coding sequence variant, stop gained
rs886044728	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044730	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044731	T>A	Pathogenic	Coding sequence variant, stop gained
rs886044732	A>C	Pathogenic	Coding sequence variant, missense variant
rs886044735	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044736	->TGCA	Pathogenic	Frameshift variant, coding sequence variant
rs886044737	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs886044738	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044740	C>G,T	Pathogenic	Splice acceptor variant
rs886044741	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886044742	C>A	Pathogenic	Coding sequence variant, stop gained
rs886044745	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044746	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs886044747	C>T	Pathogenic	Coding sequence variant, stop gained
rs886044750	C>T	Pathogenic	Splice donor variant
rs886044751	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886044752	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886044753	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044754	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044755	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044756	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044758	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044759	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044760	TG>CT	Pathogenic	Splice acceptor variant, intron variant
rs886044761	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044762	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886044763	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs886044764	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886046564	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs911580078	C>T	Pathogenic	Coding sequence variant, stop gained
rs951379922	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1012017728	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517700	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057517701	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057517869	C>A	Pathogenic	Stop gained, coding sequence variant
rs1057518767	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518955	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1057520212	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520213	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793004	C>G	Likely-pathogenic	Intron variant
rs1064793005	C>A	Pathogenic	Stop gained, coding sequence variant
rs1064793006	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793007	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793008	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793009	A>T	Likely-pathogenic	Intron variant
rs1064793010	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793011	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793012	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793013	G>A,T	Likely-pathogenic, pathogenic	Intron variant
rs1064793014	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793015	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797091	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797113	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs1085307968	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691262	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691351	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691612	A>C,T	Pathogenic	Stop gained, coding sequence variant
rs1161119501	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1232476760	C>A,T	Likely-pathogenic	Splice donor variant
rs1267585230	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1297857869	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1356104318	G>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1373168392	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1401924846	C>T	Pathogenic	Splice acceptor variant
rs1435203678	G>A,C	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1437993640	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1457937638	C>A,T	Likely-pathogenic	Intron variant
rs1553186509	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553186896	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553187160	C>A	Pathogenic	Splice acceptor variant
rs1553187162	T>-	Pathogenic	Splice acceptor variant
rs1553187228	TGTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553187939	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553188071	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553188588	C>T	Likely-pathogenic	Intron variant
rs1553188682	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553188916	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553189507	C>T	Likely-pathogenic	Splice acceptor variant
rs1553190559	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553190664	A>C	Pathogenic	Coding sequence variant, stop gained
rs1553192432	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553192682	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553192715	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553192726	G>T	Pathogenic	Coding sequence variant, stop gained
rs1553193813	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1553195472	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553196583	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557767754	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557783989	A>G	Pathogenic	Splice donor variant
rs1557787473	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1557787559	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1557787756	G>A	Pathogenic	Stop gained, coding sequence variant
rs1570367144	->GT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1570367230	A>T	Pathogenic	Stop gained, coding sequence variant
rs1570370826	CAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1570370929	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1570373408	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1570377861	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1570380080	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1570382663	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1570386206	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570387558	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1570393727	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1570393848	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1570394071	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1570407032	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570433137	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571239957	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571241930	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1571241947	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1571242070	C>T	Pathogenic	Coding sequence variant, missense variant
rs1571243037	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571245809	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571250020	CGGCCC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1571252997	C>G	Pathogenic	Coding sequence variant, missense variant
rs1571253050	ACAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571256775	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571257754	GTAAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571257937	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1571258440	AAAAAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs1571264551	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571264574	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571265125	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571265241	GG>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017969	hsa-miR-335-5p	Microarray	18185580
MIRT757923	hsa-miR-125a-3p	CLIP-seq
MIRT757924	hsa-miR-1273e	CLIP-seq
MIRT757925	hsa-miR-203	CLIP-seq
MIRT757926	hsa-miR-3934	CLIP-seq
MIRT757927	hsa-miR-4686	CLIP-seq
MIRT757928	hsa-miR-4712-3p	CLIP-seq
MIRT757929	hsa-miR-4792	CLIP-seq
MIRT757930	hsa-miR-764	CLIP-seq
MIRT757923	hsa-miR-125a-3p	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0005215	Function	Transporter activity	TAS	9054934
GO:0005319	Function	Lipid transporter activity	IBA	21873635
GO:0005524	Function	ATP binding	IEA
GO:0005548	Function	Phospholipid transporter activity	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	24097981
GO:0005887	Component	Integral component of plasma membrane	IEA
GO:0006649	Process	Phospholipid transfer to membrane	IEA
GO:0006869	Process	Lipid transport	IBA	21873635
GO:0007601	Process	Visual perception	IEA
GO:0007603	Process	Phototransduction, visible light	TAS	9202155
GO:0016020	Component	Membrane	TAS	9054934
GO:0016887	Function	ATPase activity	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0045332	Process	Phospholipid translocation	IDA	24097981
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0090555	Function	Phosphatidylethanolamine flippase activity	IDA	24097981
GO:0097381	Component	Photoreceptor disc membrane	TAS
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IBA	21873635
GO:0140327	Function	Flippase activity	IDA	24097981
GO:0140347	Function	N-retinylidene-phosphatidylethanolamine flippase activity	IEA

MIM	HGNC	e!Ensembl
601691	34	ENSG00000198691

Protein

UniProt ID

P78363

Protein name

Retinal-specific phospholipid-transporting ATPase ABCA4 (EC 7.6.2.1) (ATP-binding cassette sub-family A member 4) (RIM ABC transporter) (RIM proteinv) (RmP) (Retinal-specific ATP-binding cassette transporter) (Stargardt disease protein)

Protein function

Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (N-Ret-PE) from the lumen to the cytoplasmic leaflet of

PDB

7E7I , 7E7O , 7E7Q , 7LKP , 7LKZ , 7M1P , 7M1Q , 8F5B

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12698	ABC2_membrane_3	607 → 856		Family
PF00005	ABC_tran	946 → 1090	ABC transporter	Domain
PF12698	ABC2_membrane_3	1595 → 1895		Family
PF00005	ABC_tran	1955 → 2099	ABC transporter	Domain

Tissue specificity

TISSUE SPECIFICITY: Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.

Sequence

MGFVRQIQLLLWKNWTLRKRQKIRFVVELVWPLSLFLVLIWLRNANPLYSHHECHFPNKA
MPSAGMLPWLQGIFCNVNNPCFQSPTPGESPGIVSNYNNSILARVYRDFQELLMNAPESQ
HLGRIWTELHILSQFMDTLRTHPERIAGRGIRIRDILKDEETLTLFLIKNIGLSDSVVYL
LINSQVRPEQFAHGVPDLALKDIACSEALLERFIIFSQRRGAKTVRYALCSLSQGTLQWI
EDTLYANVDFFKLFRVLPTLLDSRSQGINLRSWGGILSDMSPRIQEFIHRPSMQDLLWVT
RPLMQNGGPETFTKLMGILSDLLCGYPEGGGSRVLSFNWYEDNNYKAFLGIDSTRKDPIY
SYDRRTTSFCNALIQSLESNPLTKIAWRAAKPLLMGKILYTPDSPAARRILKNANSTFEE
LEHVRKLVKAWEEVGPQIWYFFDNSTQMNMIRDTLGNPTVKDFLNRQLGEEGITAEAILN
FLYKGPRESQADDMANFDWRDIFNITDRTLRLVNQYLECLVLDKFESYNDETQLTQRALS
LLEENMFWAGVVFPDMYPWTSSLPPHVKYKIRMDIDVVEKTNKIKDRYWDSGPRADPVED
FRYIWGGFAYLQDMVEQGITRSQVQAEAPVGIYLQQMPYPCFVDDSFMIILNRCFPIFMV
LAWIYSVSMTVKSIVLEKELRLKETLKNQGVSNAVIWCTWFLDSFSIMSMSIFLLTIFIM
HGRILHYSDPFILFLFLLAFSTATIMLCFLLSTFFSKASLAAACSGVIYFTLYLPHILCF
AWQDRMTAELKKAVSLLSPVAFGFGTEYLVRFEEQGLGLQWSNIGNSPTEGDEFSFLLSM
QMMLLDAAVYGLLAWYLDQVFPGDYGTPLPWYFLLQESYWLGGEGCSTREERALEKTEPL
TEETEDPEHPEGIHDSFFEREHPGWVPGVCVKNLVKIFEPCGRPAVDRLNITFYENQITA
FLGHNGAGKTTTLSILTGLLPPTSGTVLVGGRDIETSLDAVRQSLGMCPQHNILFHHLTV
AEHMLFYAQLKGKSQEEAQLEMEAMLEDTGLHHKRNEEAQDLSGGMQRKLSVAIAFVGDA
KVVILDEPTSGVDPYSRRSIWDLLLKYRSGRTIIMSTHHMDEADLLGDRIAIIAQGRLYC
SGTPLFLKNCFGTGLYLTLVRKMKNIQSQRKGSEGTCSCSSKGFSTTCPAHVDDLTPEQV
LDGDVNELMDVVLHHVPEAKLVECIGQELIFLLPNKNFKHRAYASLFRELEETLADLGLS
SFGISDTPLEEIFLKVTEDSDSGPLFAGGAQQKRENVNPRHPCLGPREKAGQTPQDSNVC
SPGAPAAHPEGQPPPEPECPGPQLNTGTQLVLQHVQALLVKRFQHTIRSHKDFLAQIVLP
ATFVFLALMLSIVIPPFGEYPALTLHPWIYGQQYTFFSMDEPGSEQFTVLADVLLNKPGF
GNRCLKEGWLPEYPCGNSTPWKTPSVSPNITQLFQKQKWTQVNPSPSCRCSTREKLTMLP
ECPEGAGGLPPPQRTQRSTEILQDLTDRNISDFLVKTYPALIRSSLKSKFWVNEQRYGGI
SIGGKLPVVPITGEALVGFLSDLGRIMNVSGGPITREASKEIPDFLKHLETEDNIKVWFN
NKGWHALVSFLNVAHNAILRASLPKDRSPEEYGITVISQPLNLTKEQLSEITVLTTSVDA
VVAICVIFSMSFVPASFVLYLIQERVNKSKHLQFISGVSPTTYWVTNFLWDIMNYSVSAG
LVVGIFIGFQKKAYTSPENLPALVALLLLYGWAVIPMMYPASFLFDVPSTAYVALSCANL
FIGINSSAITFILELFENNRTLLRFNAVLRKLLIVFPHFCLGRGLIDLALSQAVTDVYAR
FGEEHSANPFHWDLIGKNLFAMVVEGVVYFLLTLLVQRHFFLSQWIAEPTKEPIVDEDDD
VAEERQRIITGGNKTDILRLHELTKIYPGTSSPAVDRLCVGVRPGECFGLLGVNGAGKTT
TFKMLTGDTTVTSGDATVAGKSILTNISEVHQNMGYCPQFDAIDELLTGREHLYLYARLR
GVPAEEIEKVANWSIKSLGLTVYADCLAGTYSGGNKRKLSTAIALIGCPPLVLLDEPTTG
MDPQARRMLWNVIVSIIREGRAVVLTSHSMEECEALCTRLAIMVKGAFRCMGTIQHLKSK
FGDGYIVTMKIKSPKDDLLPDLNPVEQFFQGNFPGSVQRERHYNMLQFQVSSSSLARIFQ
LLLSHKDSLLIEEYSVTQTTLDQVFVNFAKQQTESHDLPLHPRAAGASRQAQD

Sequence length

2273

Interactions

View interactions

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Evidence	Source
Unknown
Cone Dystrophy	cone-rod dystrophy 3, cone-rod dystrophy		GenCC
Retinitis Pigmentosa	retinitis pigmentosa 19		GenCC
Cleft Lip With Or Without Cleft Palate	Cleft Lip With Or Without Cleft Palate		GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587	GWAS, CBGDA

Show/Hide Text Mining Associations (113)

Disease Name	Relationship Type	References
Associations from Text Mining
Abnormalities Drug Induced	Associate	18285826
Albinism Ocular	Associate	27367509
Alzheimer Disease	Associate	36521383
Anemia sideroblastic spinocerebellar ataxia	Stimulate	18398482
Anxiety	Associate	35301265
Atrophy	Associate	10874631, 18854780, 25356532, 28365912, 37728905, 40269797
Best Vitelliform Macular Dystrophy Multifocal	Associate	17504850
Blindness	Associate	10958763, 28327576, 30204727, 31403270, 34874912
Blister	Associate	24444108
Brain Diseases	Associate	18523590, 19430638
Bullous Dystrophy Hereditary Macular Type	Associate	32717343
Carcinoma Non Small Cell Lung	Associate	26757251
Carcinoma Renal Cell	Associate	25120763
Cholelithiasis	Associate	37344314
Choroidal Neovascularization	Associate	34073554
Choroideremia	Associate	23940504
Cleft Lip	Associate	23167473, 34769998
Cleft Palate	Associate	23167473, 24738728, 25081408, 31122291, 34769998
Cognitive Dysfunction	Associate	37728905
Color Vision Defects	Associate	23940504
Colorectal Neoplasms	Associate	30098223
Cone Dystrophy	Associate	18285826, 26957898, 31144483, 35170407
Cone Rod Dystrophies	Associate	10413692, 10634594, 10958761, 16303974, 17325179, 18024811, 18285826, 19028736, 19056738, 19352439, 19406377, 20029649, 20554613, 21911583, 23776498 View all (26 more)
Coronary Artery Disease	Associate	11349008
Coronary Disease	Associate	11349008
Crohn Disease	Associate	35260635
Cystic Fibrosis	Associate	26092729
Depressive Disorder	Associate	35301265
Diabetic Retinopathy	Associate	37318461
Disease	Associate	19074458, 21873672, 30670881, 31576780, 38309476
Drug Related Side Effects and Adverse Reactions	Associate	37728905
Dystonia 12	Associate	28947085
Dystonic Disorders	Associate	10958761
Eye Diseases	Associate	35353811
Eye Diseases Hereditary	Stimulate	30374144
Eye Diseases Hereditary	Associate	36729443
Familial Exudative Vitreoretinopathies	Associate	29207047
Genetic Diseases Inborn	Associate	10874631
Geographic Atrophy	Associate	22060670
Glioblastoma	Associate	31882480
Heart Diseases	Associate	25301883
Hereditary macular coloboma	Associate	28365912
Hyperpigmentation	Associate	25356532
Hypertensive Retinopathy	Associate	22247458, 23695285, 29310964, 30670881, 31814693, 32413971, 32783370, 34115091, 35076026, 36178783, 36209838, 37175983, 37209970, 37498587, 37705246, 38499139, 40225145, 40465261, 9666097 View all (4 more)
Immunoglobulin G4 Related Disease	Associate	24791140, 26377081
Infections	Associate	18523590
Inflammation	Associate	36510129
Intellectual Disability	Associate	40269797
Jet Lag Syndrome	Associate	35076026
Juvenile macular degeneration and hypotrichosis	Associate	28061825
Kearns Sayre Syndrome	Associate	33258285
Lead Poisoning Nervous System	Associate	37728905
Leber Congenital Amaurosis	Associate	18334942, 23443024, 23940504, 24811962, 30416334, 33879469, 35170407, 37108442, 38222458
Leukemia Myeloid Acute	Associate	22058196, 30962310
Lung Neoplasms	Associate	19132374, 25122423
Macular Degeneration	Associate	10216065, 10486215, 10880298, 10958763, 18024811, 19056738, 20335603, 21106043, 22661473, 24713488, 24811962, 25884411, 26024099, 26261413, 26261643 View all (20 more)
Macular dystrophy concentric annular	Associate	18024811, 19217903, 25283059, 25356532, 27367509, 33836713
Macular dystrophy retinal 1 North Carolina type	Associate	26247787, 36402981
Melanoma	Associate	25115303
Metabolic Syndrome	Associate	29643945
Microcephaly with Chorioretinopathy Autosomal Dominant	Associate	34874912
Moloney syndrome	Associate	36402981
Mouth Diseases	Associate	35413457
Musculoskeletal Abnormalities	Associate	33724725
Myocardial Infarction	Associate	23727086
Myopathies Nemaline	Associate	32619608
Neoplasm Metastasis	Associate	36807122
Neoplasms	Associate	20233711, 28472177, 33450491, 33671108
Neoplasms Cystic Mucinous and Serous	Associate	25889687
Neoplastic Syndromes Hereditary	Associate	30416334
Nerve Degeneration	Associate	24713488, 35076026
Nerve Degeneration	Inhibit	32845050
Neuroblastoma	Associate	12885402
Neurodegenerative Diseases	Associate	24097981
Neuronal Ceroid Lipofuscinoses	Associate	17429493
Neuronopathy Distal Hereditary Motor Type V	Associate	29310964
Night Blindness	Associate	40269797
Ocular Albinism type 1	Associate	27367509
Ocular Hypertension	Associate	35248547
Orofacial Cleft 1	Associate	27527345
Osteosarcoma	Associate	36807122
Ovarian Neoplasms	Associate	37838788
Pathological Conditions Anatomical	Associate	36833411
Patterned dystrophy of retinal pigment epithelium	Associate	22871184, 32298433, 32832238, 36306781, 38309476
pediatric multisystem inflammatory disease COVID 19 related	Associate	36510129
Peripapillary Atrophy Beta Type	Associate	18854780, 31574917
Peripheral Nervous System Diseases	Associate	33258285
Pigmentation Disorders	Associate	26247787
Polypoidal Choroidal Vasculopathy	Associate	35657619
Progressive hearing loss stapes fixation	Associate	33452396
Pseudoxanthoma Elasticum	Associate	36012482
Refsum Disease Infantile	Associate	27898983, 31766579, 31814693, 31968401, 33452396, 34828430, 35656873, 36460718, 37287645, 37778667
Renal Insufficiency Chronic	Associate	23727086
Retinal Cone Dystrophy 1	Associate	36178783
Retinal Degeneration	Associate	16303974, 17325179, 17429493, 22247458, 24453473, 24550365, 26261413, 26377081, 28130426, 28885670, 28945494, 29386879, 29422768, 31766579, 33258285 View all (8 more)
Retinal Diseases	Associate	10612508, 18285826, 19056738, 19074458, 19217903, 23695285, 23755871, 25884411, 28446513, 28559085, 31144483, 31397521, 31618812, 31766579, 31814693 View all (21 more)
Retinal Dystrophies	Associate	10413692, 10634594, 10958761, 18285826, 19352439, 19430638, 23591405, 23755871, 24444108, 24625443, 24713488, 24791140, 25133751, 27874104, 28446513 View all (22 more)
Retinal Dystrophy Early Onset Severe	Associate	40465261
Retinitis	Associate	23918662, 26527198, 31574917, 34874912, 35475888, 37441824, 37480818, 37979432
Retinitis Pigmentosa	Associate	10413692, 10634594, 10874631, 10958761, 18285826, 18334942, 19028736, 19056738, 19339744, 20647261, 22128245, 22395892, 23755871, 23940504, 24453473 View all (19 more)
Retinoblastoma	Associate	33525094
Scotoma	Associate	19217903, 24453473
Space Motion Sickness	Associate	37778667
Stargardt Disease	Associate	10090887, 10486215, 10612508, 10634594, 10874631, 10958761, 10958763, 11594993, 16303974, 16917483, 17277736, 17325179, 17504850, 17562343, 18024811 View all (149 more)
Sveinsson Chorioretinal Atrophy	Associate	24713488, 32660024
Tangier Disease	Associate	11309399, 11349008, 25227739, 35361255
Thinness	Associate	28947085
Toxoplasmosis Congenital	Associate	18523590, 19430638
Tuberculosis Multidrug Resistant	Associate	33671108
Turner Syndrome	Associate	33899203
Uniparental Disomy	Associate	32307445
Usher Syndromes	Associate	23940504, 35656873, 40269797
Vision Disorders	Associate	17429493, 23695285, 24097981, 24713488, 29902293, 33258285, 33988224, 34625547, 35621151, 37510321, 37930186, 37979432, 38309476, 40244202

ABCA4 (ATP binding cassette subfamily A member 4)