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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6584
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 22 member 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC22A5
Synonyms (NCBI Gene) Gene synonyms aliases	CDSP, OCTN2
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q31.1
Summary Summary of gene provided in NCBI Entrez Gene.	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma int

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SNP ID	Visualize variation	Clinical significance	Consequence
rs11568514	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs28383481	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs60376624	C>G	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs68018207	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs72552727	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant, intron variant
rs72552732	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs72552734	G>A	Uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs72552735	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs114269482	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908886	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121908887	->A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs121908888	A>G	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, initiator codon variant, non coding transcript variant
rs121908889	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs121908890	C>T	Pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs121908891	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs121908893	C>A,T	Benign, pathogenic	Synonymous variant, stop gained, coding sequence variant, non coding transcript variant
rs144547521	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs145068530	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, initiator codon variant, non coding transcript variant
rs151231558	G>A,T	Pathogenic, pathogenic-likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant, intron variant
rs185551386	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs200125400	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs200290813	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs267607053	GC>AT	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs267607054	C>T	Pathogenic-likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs377724489	A>C,T	Pathogenic	Intron variant, splice acceptor variant
rs386134194	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs386134195	TG>-	Pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs386134199	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs386134200	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, splice donor variant, missense variant
rs386134201	A>C	Likely-pathogenic	Splice acceptor variant
rs386134204	T>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386134209	C>-,CC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386134210	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs386134212	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs386134215	TGC>-	Likely-pathogenic, pathogenic	Intron variant, non coding transcript variant, coding sequence variant, inframe deletion
rs386134217	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386134218	A>G	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs386134221	C>A,G	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs386134222	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs386134223	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs386134224	G>A	Likely-pathogenic	Splice acceptor variant
rs386134225	->ACAC	Pathogenic-likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs747592919	G>C	Likely-pathogenic	Splice acceptor variant
rs747821417	G>A	Likely-pathogenic, uncertain-significance	5 prime UTR variant, missense variant, non coding transcript variant, intron variant, coding sequence variant
rs749282641	C>A,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs761090705	C>-,CC	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs763224132	C>A,G,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs766398620	G>C	Likely-pathogenic	Splice acceptor variant
rs775097754	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs777004046	A>C,G	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs781330134	->T	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs796052033	T>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs796052040	->ACAGAAAAAC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs878853248	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs878853249	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886041277	G>A	Pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs886041967	CA>TC	Pathogenic	Intron variant, splice acceptor variant
rs896634334	->GGGCTT	Pathogenic, uncertain-significance	Non coding transcript variant, intron variant, inframe insertion, coding sequence variant
rs927950152	G>A	Likely-pathogenic, uncertain-significance	Intron variant
rs1057516402	A>G	Likely-pathogenic	Splice acceptor variant
rs1057516765	C>G	Likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1057516805	G>C	Likely-pathogenic	Splice acceptor variant
rs1057517106	G>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1057517306	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057518297	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1057519051	T>G	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1064793269	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1178584184	C>T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, intron variant
rs1554087461	->TATGGCCATCAGGTTGGAG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554087491	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554087719	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554087913	A>G	Likely-pathogenic	Splice acceptor variant
rs1554087949	G>T	Likely-pathogenic	Splice donor variant
rs1554088165	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1554088200	G>A	Likely-pathogenic	Intron variant, splice donor variant
rs1554088578	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561566541	T>C	Likely-pathogenic	Intron variant, splice donor variant
rs1580888136	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1580892239	T>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1580892402	A>-	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1580894230	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002618	hsa-miR-124-3p	Microarray	15685193
MIRT019378	hsa-miR-148b-3p	Microarray	17612493
MIRT021427	hsa-miR-9-5p	Microarray	17612493
MIRT002618	hsa-miR-124-3p	Microarray	18668037
MIRT002618	hsa-miR-124-3p	Microarray	15685193
MIRT1354533	hsa-miR-1231	CLIP-seq
MIRT1354534	hsa-miR-1238	CLIP-seq
MIRT1354535	hsa-miR-1243	CLIP-seq
MIRT1354536	hsa-miR-1253	CLIP-seq
MIRT1354537	hsa-miR-1258	CLIP-seq
MIRT1354538	hsa-miR-1275	CLIP-seq
MIRT1354539	hsa-miR-1296	CLIP-seq
MIRT1354540	hsa-miR-2054	CLIP-seq
MIRT1354541	hsa-miR-2110	CLIP-seq
MIRT1354542	hsa-miR-3117-3p	CLIP-seq
MIRT1354543	hsa-miR-3124-3p	CLIP-seq
MIRT1354544	hsa-miR-3148	CLIP-seq
MIRT1354545	hsa-miR-3153	CLIP-seq
MIRT1354546	hsa-miR-3169	CLIP-seq
MIRT1354547	hsa-miR-3173-3p	CLIP-seq
MIRT1354548	hsa-miR-3654	CLIP-seq
MIRT1354549	hsa-miR-3659	CLIP-seq
MIRT1354550	hsa-miR-3668	CLIP-seq
MIRT1354551	hsa-miR-3692	CLIP-seq
MIRT1354552	hsa-miR-382	CLIP-seq
MIRT1354553	hsa-miR-3907	CLIP-seq
MIRT1354554	hsa-miR-3921	CLIP-seq
MIRT1354555	hsa-miR-3936	CLIP-seq
MIRT1354556	hsa-miR-4271	CLIP-seq
MIRT1354557	hsa-miR-4275	CLIP-seq
MIRT1354558	hsa-miR-4287	CLIP-seq
MIRT1354559	hsa-miR-4288	CLIP-seq
MIRT1354560	hsa-miR-4289	CLIP-seq
MIRT1354561	hsa-miR-4311	CLIP-seq
MIRT1354562	hsa-miR-4328	CLIP-seq
MIRT1354563	hsa-miR-4447	CLIP-seq
MIRT1354564	hsa-miR-4469	CLIP-seq
MIRT1354565	hsa-miR-4472	CLIP-seq
MIRT1354566	hsa-miR-4481	CLIP-seq
MIRT1354567	hsa-miR-4512	CLIP-seq
MIRT1354568	hsa-miR-4519	CLIP-seq
MIRT1354569	hsa-miR-4525	CLIP-seq
MIRT1354570	hsa-miR-4641	CLIP-seq
MIRT1354571	hsa-miR-4651	CLIP-seq
MIRT1354572	hsa-miR-4652-5p	CLIP-seq
MIRT1354573	hsa-miR-4653-5p	CLIP-seq
MIRT1354574	hsa-miR-4658	CLIP-seq
MIRT1354575	hsa-miR-4665-5p	CLIP-seq
MIRT1354576	hsa-miR-4670-3p	CLIP-seq
MIRT1354577	hsa-miR-4682	CLIP-seq
MIRT1354578	hsa-miR-4685-3p	CLIP-seq
MIRT1354579	hsa-miR-4713-5p	CLIP-seq
MIRT1354580	hsa-miR-4723-5p	CLIP-seq
MIRT1354581	hsa-miR-4724-5p	CLIP-seq
MIRT1354582	hsa-miR-4725-3p	CLIP-seq
MIRT1354583	hsa-miR-4745-5p	CLIP-seq
MIRT1354584	hsa-miR-4759	CLIP-seq
MIRT1354585	hsa-miR-491-5p	CLIP-seq
MIRT1354586	hsa-miR-570	CLIP-seq
MIRT1354587	hsa-miR-574-5p	CLIP-seq
MIRT1354588	hsa-miR-608	CLIP-seq
MIRT1354589	hsa-miR-625	CLIP-seq
MIRT1354590	hsa-miR-632	CLIP-seq
MIRT1354591	hsa-miR-633	CLIP-seq
MIRT1354592	hsa-miR-665	CLIP-seq
MIRT2104884	hsa-miR-1208	CLIP-seq
MIRT2104885	hsa-miR-1245b-3p	CLIP-seq
MIRT2104886	hsa-miR-1245b-5p	CLIP-seq
MIRT2104887	hsa-miR-1254	CLIP-seq
MIRT2104888	hsa-miR-1271	CLIP-seq
MIRT2104889	hsa-miR-1303	CLIP-seq
MIRT2104890	hsa-miR-182	CLIP-seq
MIRT2104891	hsa-miR-1825	CLIP-seq
MIRT2104892	hsa-miR-199a-3p	CLIP-seq
MIRT2104893	hsa-miR-199b-3p	CLIP-seq
MIRT2104894	hsa-miR-302a	CLIP-seq
MIRT2104895	hsa-miR-302b	CLIP-seq
MIRT2104896	hsa-miR-302c	CLIP-seq
MIRT2104897	hsa-miR-302d	CLIP-seq
MIRT2104898	hsa-miR-302e	CLIP-seq
MIRT2104899	hsa-miR-30a	CLIP-seq
MIRT2104900	hsa-miR-30b	CLIP-seq
MIRT2104901	hsa-miR-30c	CLIP-seq
MIRT2104902	hsa-miR-30d	CLIP-seq
MIRT2104903	hsa-miR-30e	CLIP-seq
MIRT2104904	hsa-miR-3116	CLIP-seq
MIRT2104905	hsa-miR-3117-5p	CLIP-seq
MIRT2104906	hsa-miR-3123	CLIP-seq
MIRT2104907	hsa-miR-3129-5p	CLIP-seq
MIRT2104908	hsa-miR-3142	CLIP-seq
MIRT1354544	hsa-miR-3148	CLIP-seq
MIRT2104909	hsa-miR-3158-3p	CLIP-seq
MIRT2104910	hsa-miR-3690	CLIP-seq
MIRT1354551	hsa-miR-3692	CLIP-seq
MIRT2104911	hsa-miR-372	CLIP-seq
MIRT2104912	hsa-miR-373	CLIP-seq
MIRT2104913	hsa-miR-383	CLIP-seq
MIRT2104914	hsa-miR-3914	CLIP-seq
MIRT2104915	hsa-miR-3925-5p	CLIP-seq
MIRT2104916	hsa-miR-3975	CLIP-seq
MIRT1354556	hsa-miR-4271	CLIP-seq
MIRT2104917	hsa-miR-4446-3p	CLIP-seq
MIRT2104918	hsa-miR-4459	CLIP-seq
MIRT2104919	hsa-miR-4490	CLIP-seq
MIRT2104920	hsa-miR-4492	CLIP-seq
MIRT2104921	hsa-miR-4495	CLIP-seq
MIRT2104922	hsa-miR-4498	CLIP-seq
MIRT1354568	hsa-miR-4519	CLIP-seq
MIRT2104923	hsa-miR-452	CLIP-seq
MIRT2104924	hsa-miR-4521	CLIP-seq
MIRT2104925	hsa-miR-4638-3p	CLIP-seq
MIRT2104926	hsa-miR-4676-3p	CLIP-seq
MIRT2104927	hsa-miR-4695-5p	CLIP-seq
MIRT2104928	hsa-miR-4719	CLIP-seq
MIRT1354582	hsa-miR-4725-3p	CLIP-seq
MIRT2104929	hsa-miR-4753-5p	CLIP-seq
MIRT2104930	hsa-miR-4772-5p	CLIP-seq
MIRT2104931	hsa-miR-4795-3p	CLIP-seq
MIRT2104932	hsa-miR-510	CLIP-seq
MIRT2104933	hsa-miR-512-5p	CLIP-seq
MIRT2104934	hsa-miR-513b	CLIP-seq
MIRT2104935	hsa-miR-519a	CLIP-seq
MIRT2104936	hsa-miR-519b-3p	CLIP-seq
MIRT2104937	hsa-miR-519c-3p	CLIP-seq
MIRT2104938	hsa-miR-520a-3p	CLIP-seq
MIRT2104939	hsa-miR-520b	CLIP-seq
MIRT2104940	hsa-miR-520c-3p	CLIP-seq
MIRT2104941	hsa-miR-520d-3p	CLIP-seq
MIRT2104942	hsa-miR-520e	CLIP-seq
MIRT2104943	hsa-miR-520f	CLIP-seq
MIRT2104944	hsa-miR-556-5p	CLIP-seq
MIRT1354586	hsa-miR-570	CLIP-seq
MIRT1354592	hsa-miR-665	CLIP-seq
MIRT2104945	hsa-miR-762	CLIP-seq
MIRT2104946	hsa-miR-934	CLIP-seq
MIRT2104947	hsa-miR-936	CLIP-seq
MIRT2104948	hsa-miR-96	CLIP-seq
MIRT2329586	hsa-miR-106a	CLIP-seq
MIRT2329587	hsa-miR-106b	CLIP-seq
MIRT2104884	hsa-miR-1208	CLIP-seq
MIRT1354534	hsa-miR-1238	CLIP-seq
MIRT2104885	hsa-miR-1245b-3p	CLIP-seq
MIRT2329588	hsa-miR-125a-3p	CLIP-seq
MIRT2104888	hsa-miR-1271	CLIP-seq
MIRT2104889	hsa-miR-1303	CLIP-seq
MIRT2329589	hsa-miR-138	CLIP-seq
MIRT2329590	hsa-miR-145	CLIP-seq
MIRT2329591	hsa-miR-146b-3p	CLIP-seq
MIRT2329592	hsa-miR-148a	CLIP-seq
MIRT2329593	hsa-miR-148b	CLIP-seq
MIRT2329594	hsa-miR-152	CLIP-seq
MIRT2329595	hsa-miR-17	CLIP-seq
MIRT2104890	hsa-miR-182	CLIP-seq
MIRT2104891	hsa-miR-1825	CLIP-seq
MIRT2329596	hsa-miR-1827	CLIP-seq
MIRT2329597	hsa-miR-1976	CLIP-seq
MIRT2329598	hsa-miR-20a	CLIP-seq
MIRT2329599	hsa-miR-20b	CLIP-seq
MIRT1354541	hsa-miR-2110	CLIP-seq
MIRT2329600	hsa-miR-2116	CLIP-seq
MIRT2104894	hsa-miR-302a	CLIP-seq
MIRT2104895	hsa-miR-302b	CLIP-seq
MIRT2104896	hsa-miR-302c	CLIP-seq
MIRT2104897	hsa-miR-302d	CLIP-seq
MIRT2104898	hsa-miR-302e	CLIP-seq
MIRT2104899	hsa-miR-30a	CLIP-seq
MIRT2104900	hsa-miR-30b	CLIP-seq
MIRT2104901	hsa-miR-30c	CLIP-seq
MIRT2104902	hsa-miR-30d	CLIP-seq
MIRT2104903	hsa-miR-30e	CLIP-seq
MIRT2104905	hsa-miR-3117-5p	CLIP-seq
MIRT2104906	hsa-miR-3123	CLIP-seq
MIRT2104909	hsa-miR-3158-3p	CLIP-seq
MIRT2329601	hsa-miR-3158-5p	CLIP-seq
MIRT2329602	hsa-miR-3166	CLIP-seq
MIRT2329603	hsa-miR-3173-5p	CLIP-seq
MIRT2329604	hsa-miR-3179	CLIP-seq
MIRT2329605	hsa-miR-3607-3p	CLIP-seq
MIRT2329606	hsa-miR-3609	CLIP-seq
MIRT2329607	hsa-miR-3664-5p	CLIP-seq
MIRT2329608	hsa-miR-3686	CLIP-seq
MIRT2104911	hsa-miR-372	CLIP-seq
MIRT2104912	hsa-miR-373	CLIP-seq
MIRT2329609	hsa-miR-375	CLIP-seq
MIRT2104913	hsa-miR-383	CLIP-seq
MIRT2329610	hsa-miR-3909	CLIP-seq
MIRT2104914	hsa-miR-3914	CLIP-seq
MIRT2104915	hsa-miR-3925-5p	CLIP-seq
MIRT2104916	hsa-miR-3975	CLIP-seq
MIRT2329611	hsa-miR-425	CLIP-seq
MIRT2329612	hsa-miR-4264	CLIP-seq
MIRT1354556	hsa-miR-4271	CLIP-seq
MIRT2329613	hsa-miR-4273	CLIP-seq
MIRT2329614	hsa-miR-4299	CLIP-seq
MIRT2329615	hsa-miR-4316	CLIP-seq
MIRT2329616	hsa-miR-4325	CLIP-seq
MIRT2104917	hsa-miR-4446-3p	CLIP-seq
MIRT2104918	hsa-miR-4459	CLIP-seq
MIRT2104921	hsa-miR-4495	CLIP-seq
MIRT2104923	hsa-miR-452	CLIP-seq
MIRT2104924	hsa-miR-4521	CLIP-seq
MIRT2104926	hsa-miR-4676-3p	CLIP-seq
MIRT2329617	hsa-miR-4677-5p	CLIP-seq
MIRT2329618	hsa-miR-4686	CLIP-seq
MIRT2104927	hsa-miR-4695-5p	CLIP-seq
MIRT2329619	hsa-miR-4700-3p	CLIP-seq
MIRT2329620	hsa-miR-4710	CLIP-seq
MIRT2329621	hsa-miR-4714-5p	CLIP-seq
MIRT2329622	hsa-miR-4722-3p	CLIP-seq
MIRT1354582	hsa-miR-4725-3p	CLIP-seq
MIRT2329623	hsa-miR-4728-3p	CLIP-seq
MIRT1354584	hsa-miR-4759	CLIP-seq
MIRT2329624	hsa-miR-4771	CLIP-seq
MIRT2104930	hsa-miR-4772-5p	CLIP-seq
MIRT2329625	hsa-miR-4796-3p	CLIP-seq
MIRT2329626	hsa-miR-5095	CLIP-seq
MIRT2104932	hsa-miR-510	CLIP-seq
MIRT2104933	hsa-miR-512-5p	CLIP-seq
MIRT2104935	hsa-miR-519a	CLIP-seq
MIRT2104936	hsa-miR-519b-3p	CLIP-seq
MIRT2104937	hsa-miR-519c-3p	CLIP-seq
MIRT2329627	hsa-miR-519d	CLIP-seq
MIRT2104938	hsa-miR-520a-3p	CLIP-seq
MIRT2104939	hsa-miR-520b	CLIP-seq
MIRT2104940	hsa-miR-520c-3p	CLIP-seq
MIRT2104941	hsa-miR-520d-3p	CLIP-seq
MIRT2104942	hsa-miR-520e	CLIP-seq
MIRT2104943	hsa-miR-520f	CLIP-seq
MIRT2329628	hsa-miR-548ah	CLIP-seq
MIRT2329629	hsa-miR-569	CLIP-seq
MIRT2329630	hsa-miR-610	CLIP-seq
MIRT2329631	hsa-miR-640	CLIP-seq
MIRT1354592	hsa-miR-665	CLIP-seq
MIRT2329632	hsa-miR-874	CLIP-seq
MIRT2329633	hsa-miR-885-3p	CLIP-seq
MIRT2329634	hsa-miR-93	CLIP-seq
MIRT2104946	hsa-miR-934	CLIP-seq
MIRT2104948	hsa-miR-96	CLIP-seq
MIRT2104884	hsa-miR-1208	CLIP-seq
MIRT2104888	hsa-miR-1271	CLIP-seq
MIRT2104889	hsa-miR-1303	CLIP-seq
MIRT2329589	hsa-miR-138	CLIP-seq
MIRT2329592	hsa-miR-148a	CLIP-seq
MIRT2329593	hsa-miR-148b	CLIP-seq
MIRT2329594	hsa-miR-152	CLIP-seq
MIRT2104890	hsa-miR-182	CLIP-seq
MIRT2104905	hsa-miR-3117-5p	CLIP-seq
MIRT2104906	hsa-miR-3123	CLIP-seq
MIRT2623870	hsa-miR-377	CLIP-seq
MIRT2104915	hsa-miR-3925-5p	CLIP-seq
MIRT2329614	hsa-miR-4299	CLIP-seq
MIRT2329616	hsa-miR-4325	CLIP-seq
MIRT2104923	hsa-miR-452	CLIP-seq
MIRT2104926	hsa-miR-4676-3p	CLIP-seq
MIRT2104948	hsa-miR-96	CLIP-seq
MIRT2104884	hsa-miR-1208	CLIP-seq
MIRT2104888	hsa-miR-1271	CLIP-seq
MIRT2104889	hsa-miR-1303	CLIP-seq
MIRT2329589	hsa-miR-138	CLIP-seq
MIRT2329592	hsa-miR-148a	CLIP-seq
MIRT2329593	hsa-miR-148b	CLIP-seq
MIRT2329594	hsa-miR-152	CLIP-seq
MIRT2104890	hsa-miR-182	CLIP-seq
MIRT2104894	hsa-miR-302a	CLIP-seq
MIRT2104895	hsa-miR-302b	CLIP-seq
MIRT2104896	hsa-miR-302c	CLIP-seq
MIRT2104897	hsa-miR-302d	CLIP-seq
MIRT2104898	hsa-miR-302e	CLIP-seq
MIRT2104905	hsa-miR-3117-5p	CLIP-seq
MIRT2104906	hsa-miR-3123	CLIP-seq
MIRT2104911	hsa-miR-372	CLIP-seq
MIRT2104912	hsa-miR-373	CLIP-seq
MIRT2623870	hsa-miR-377	CLIP-seq
MIRT2104915	hsa-miR-3925-5p	CLIP-seq
MIRT2104916	hsa-miR-3975	CLIP-seq
MIRT2329614	hsa-miR-4299	CLIP-seq
MIRT2329616	hsa-miR-4325	CLIP-seq
MIRT2104923	hsa-miR-452	CLIP-seq
MIRT2104926	hsa-miR-4676-3p	CLIP-seq
MIRT2329618	hsa-miR-4686	CLIP-seq
MIRT2104938	hsa-miR-520a-3p	CLIP-seq
MIRT2104939	hsa-miR-520b	CLIP-seq
MIRT2104940	hsa-miR-520c-3p	CLIP-seq
MIRT2104941	hsa-miR-520d-3p	CLIP-seq
MIRT2104942	hsa-miR-520e	CLIP-seq
MIRT2104948	hsa-miR-96	CLIP-seq

Show/Hide all(64)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	15523054, 28514442, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	17509700
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IC	9618255
GO:0005886	Component	Plasma membrane	IDA	17509700
GO:0005886	Component	Plasma membrane	IDA	17509700
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	9916797
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0009609	Process	Response to symbiotic bacterium	IMP	18005709
GO:0009925	Component	Basal plasma membrane	IDA	35307651
GO:0009925	Component	Basal plasma membrane	IEA
GO:0015199	Function	Amino-acid betaine transmembrane transporter activity	IDA	33124720
GO:0015199	Function	Amino-acid betaine transmembrane transporter activity	IEA
GO:0015226	Function	Carnitine transmembrane transporter activity	EXP	9685390
GO:0015226	Function	Carnitine transmembrane transporter activity	IDA	9685390, 10454528, 10966938, 15523054, 17855766
GO:0015226	Function	Carnitine transmembrane transporter activity	IMP	9916797
GO:0015226	Function	Carnitine transmembrane transporter activity	TAS
GO:0015293	Function	Symporter activity	IEA
GO:0015651	Function	Quaternary ammonium group transmembrane transporter activity	IBA
GO:0015651	Function	Quaternary ammonium group transmembrane transporter activity	IDA	9618255, 23567998
GO:0015651	Function	Quaternary ammonium group transmembrane transporter activity	IMP	10454528, 10966938
GO:0015697	Process	Quaternary ammonium group transport	IBA
GO:0015697	Process	Quaternary ammonium group transport	IDA	9618255, 23567998
GO:0015697	Process	Quaternary ammonium group transport	IMP	10454528, 10966938
GO:0015879	Process	Carnitine transport	IDA	9685390
GO:0015879	Process	Carnitine transport	IEA
GO:0015879	Process	Carnitine transport	IMP	9916797
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	17274673, 18641280, 20722056
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030165	Function	PDZ domain binding	IEA
GO:0030165	Function	PDZ domain binding	IPI	15523054
GO:0031526	Component	Brush border membrane	IDA	15238359
GO:0031526	Component	Brush border membrane	ISS	15523054
GO:0034341	Process	Response to type II interferon	IDA	20722056
GO:0034612	Process	Response to tumor necrosis factor	IDA	20722056
GO:0042908	Process	Xenobiotic transport	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IC	15238359
GO:0055085	Process	Transmembrane transport	IEA
GO:0060731	Process	Positive regulation of intestinal epithelial structure maintenance	IMP	18005709
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070715	Process	Sodium-dependent organic cation transport	IDA	9685390, 15238359
GO:0150104	Process	Transport across blood-brain barrier	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1900749	Process	(R)-carnitine transport	IDA	17509700
GO:1900749	Process	(R)-carnitine transport	IDA	17509700, 20722056, 33334877
GO:1901235	Function	(R)-carnitine transmembrane transporter activity	IDA	17509700
GO:1901235	Function	(R)-carnitine transmembrane transporter activity	IDA	17509700, 20722056, 33334877
GO:1901235	Function	(R)-carnitine transmembrane transporter activity	IMP	23877104
GO:1901235	Function	(R)-carnitine transmembrane transporter activity	ISS
GO:1902270	Process	(R)-carnitine transmembrane transport	IDA	10454528, 10966938, 17855766
GO:1902270	Process	(R)-carnitine transmembrane transport	IMP	23877104
GO:1902270	Process	(R)-carnitine transmembrane transport	ISS
GO:1902603	Process	Carnitine transmembrane transport	IDA	15523054
GO:1902603	Process	Carnitine transmembrane transport	TAS
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	IC	15238359

MIM	HGNC	e!Ensembl
603377	10969	ENSG00000197375

Protein

UniProt ID

O76082

Protein name

Organic cation/carnitine transporter 2 (High-affinity sodium-dependent carnitine cotransporter) (Solute carrier family 22 member 5)

Protein function

Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine (PubMed:10454528, PubMed:10525100, PubMed:10966938, PubMed:17509700, PubMed:

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00083	Sugar_tr	106 → 524	Sugar (and other) transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in kidney, skeletal muscle, heart and placenta (PubMed:10454528). Primarily expressed by surface epithelial cells of the colon (at protein level) (PubMed:18005709). Expressed in CD68 macrophage and CD43 T-cells but n

Sequence

MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSS
AWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFS
QDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQ
TGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYA
FGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKA
AKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFG
LSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLV
PPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYF
VYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTR
MLKDGQERPTILKSTAF

Sequence length

557

Interactions

View interactions

	KEGG		Reactome
	Choline metabolism in cancer		Carnitine metabolism Organic cation transport Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Renal Carnitine Transport Defect	renal carnitine transport defect	rs386134201, rs749282641, rs1554087949, rs796052036, rs1057516805, rs72552730, rs68018207, rs1561566541, rs11568520, rs1064793269, rs386134224, rs114269482, rs377216516, rs1554088200, rs796052039 View all (105 more)	N/A
Myasthenic Syndrome	Congenital myasthenic syndrome 20	rs377767449	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Asthma	N/A	N/A	GWAS
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Dilated Cardiomyopathy	Dilated cardiomyopathy 1A	N/A	N/A	ClinVar
Hypertension	Hypertension (confirmatory factor analysis Factor 12)	N/A	N/A	GWAS
Inflammatory Bowel Disease	Inflammatory bowel disease (MTAG), Inflammatory bowel disease 5	N/A	N/A	GWAS, ClinVar
Short QT Syndrome	short QT syndrome	N/A	N/A	GenCC
Systemic Carnitine Deficiency	systemic primary carnitine deficiency disease	N/A	N/A	GenCC

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthritis Psoriatic	Associate	16255050
Arthritis Rheumatoid	Associate	16484987, 16796743
Asthma	Associate	36233078
Autoimmune Diseases	Associate	16796743
Breast Neoplasms	Associate	22212555, 40513964
Cardiomyopathies	Associate	35622436, 37658577, 38166572
Cardiomyopathy Hypertrophic	Associate	37498360, 38166572
Chronic Disease	Associate	20031577
Colitis	Associate	16437728
Colitis Ulcerative	Associate	16469794
Colorectal Neoplasms	Associate	28911246
Crohn Disease	Associate	15751072, 15955786, 16255050, 16361305, 16437728, 16469794, 16484987, 16796743, 17006998, 17451203, 17786191, 18715515, 20031577, 22411504, 26965072, 37543814 View all (1 more)
Death Sudden Cardiac	Associate	28295041, 32276632
Dermatitis Atopic	Associate	33901562
Diabetes Mellitus Type 1	Associate	16796743
Dysbiosis	Associate	37543814
Dyspnea	Associate	29581464
Glioma	Associate	28974108
Glioma	Stimulate	32654140
Heart Diseases	Associate	32276632, 39210374
Heart Failure	Associate	32276632
Hepatitis B Chronic	Associate	36233078
Hypersensitivity Delayed	Associate	29581464
Inflammation	Associate	18433468, 29678179, 32597225, 32964310
Inflammatory Bowel Diseases	Associate	16361305, 16469794, 17855766, 18698678, 23474282
Inflammatory Bowel Diseases	Inhibit	19487253
Kartagener Syndrome	Associate	33757571
LEOPARD Syndrome	Associate	38166572
Leukemia Lymphocytic Chronic B Cell	Associate	36077209
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	28420426, 32027818
Lung Diseases	Associate	29678179
Medium chain acyl CoA dehydrogenase deficiency	Associate	39210374
Metabolic Diseases	Associate	36343260, 38166572, 39776477
Metabolism Inborn Errors	Associate	39776477
Mitochondrial Diseases	Associate	34824054
Myasthenia Gravis	Associate	36450378
Nasal Polyps	Associate	36055244
Neonatal onset citrullinemia type 2	Associate	33050909
Neoplasms	Associate	36233078
Neoplasms Adipose Tissue	Associate	32964310
Pulmonary Disease Chronic Obstructive	Associate	29678179
Short chain Acyl CoA dehydrogenase deficiency	Associate	36207828
Short QT Syndrome 1	Associate	37658577
Systemic carnitine deficiency	Associate	10051646, 19208393, 20027113, 23394329, 28295041, 29895548, 30885166, 31187905, 31364285, 32276632, 33050909, 33268576, 33560599, 33757571, 34032155 View all (11 more)
Systemic carnitine deficiency	Inhibit	34559155
Thymoma	Associate	36450378
Tooth Loss	Associate	32964310
Venous Thromboembolism	Associate	40513964
VLCAD deficiency	Associate	39210374

SLC22A5 (solute carrier family 22 member 5)