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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1184
Gene name	Chloride voltage-gated channel 5
Gene symbol	CLCN5
Synonyms (NCBI Gene)	CLC5CLCK2ClC-5DENT1DENTSNPHL1NPHL2XLRHXRNhCIC-K2
Chromosome	X
Chromosome location	Xp11.23
Summary	This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gen

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SNP ID	Visualize variation	Clinical significance	Consequence
rs151340620	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs151340621	C>A,T	Pathogenic	Synonymous variant, stop gained, genic downstream transcript variant, coding sequence variant
rs151340622	T>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs151340623	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs151340624	C>T	Pathogenic, uncertain-significance	Stop gained, genic downstream transcript variant, coding sequence variant
rs151340625	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs151340626	C>T	Likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs151340627	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs151340628	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs151340629	G>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs151340630	G>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs273585644	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs273585645	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs273585646	C>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs273585647	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs273585648	G>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs273585649	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs273585650	T>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs797044808	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs797044809	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs797044810	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs797044811	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs797044812	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs797044813	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs797044814	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs797044815	TGTTAAAGCATATAGCACAGATG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1049618423	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1131691487	G>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1131691678	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1557192084	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1557194018	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1557194090	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1557194353	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1557194719	TGAC>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1569540047	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1569540051	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1569540369	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569540382	G>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1569540502	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569540520	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1602123307	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

426

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030774	hsa-miR-21-5p	Microarray	18591254
MIRT479205	hsa-miR-302f	PAR-CLIP	20371350
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT479203	hsa-miR-940	PAR-CLIP	20371350
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT479197	hsa-miR-1827	PAR-CLIP	20371350
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT479193	hsa-miR-711	PAR-CLIP	20371350
MIRT479192	hsa-miR-3612	PAR-CLIP	20371350
MIRT479191	hsa-miR-650	PAR-CLIP	20371350
MIRT479190	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT479189	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT479188	hsa-miR-1273e	PAR-CLIP	20371350
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	20371350
MIRT479186	hsa-miR-4535	PAR-CLIP	20371350
MIRT479205	hsa-miR-302f	PAR-CLIP	20371350
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT479203	hsa-miR-940	PAR-CLIP	20371350
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT479197	hsa-miR-1827	PAR-CLIP	20371350
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT479193	hsa-miR-711	PAR-CLIP	20371350
MIRT479192	hsa-miR-3612	PAR-CLIP	20371350
MIRT479191	hsa-miR-650	PAR-CLIP	20371350
MIRT479188	hsa-miR-1273e	PAR-CLIP	20371350
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	20371350
MIRT479186	hsa-miR-4535	PAR-CLIP	20371350
MIRT479205	hsa-miR-302f	PAR-CLIP	23446348
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	23446348
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	23446348
MIRT479203	hsa-miR-940	PAR-CLIP	23446348
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	23446348
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	23446348
MIRT479199	hsa-miR-4649-3p	PAR-CLIP	23446348
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	23446348
MIRT479197	hsa-miR-1827	PAR-CLIP	23446348
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	23446348
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	23446348
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	23446348
MIRT479193	hsa-miR-711	PAR-CLIP	23446348
MIRT479192	hsa-miR-3612	PAR-CLIP	23446348
MIRT479191	hsa-miR-650	PAR-CLIP	23446348
MIRT479190	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT479189	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT479188	hsa-miR-1273e	PAR-CLIP	23446348
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	23446348
MIRT479186	hsa-miR-4535	PAR-CLIP	23446348
MIRT479205	hsa-miR-302f	PAR-CLIP	23592263
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT479203	hsa-miR-940	PAR-CLIP	23592263
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT479199	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT479197	hsa-miR-1827	PAR-CLIP	23592263
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT479193	hsa-miR-711	PAR-CLIP	23592263
MIRT479192	hsa-miR-3612	PAR-CLIP	23592263
MIRT479191	hsa-miR-650	PAR-CLIP	23592263
MIRT479190	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT479189	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT479188	hsa-miR-1273e	PAR-CLIP	23592263
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	23592263
MIRT479186	hsa-miR-4535	PAR-CLIP	23592263
MIRT479205	hsa-miR-302f	PAR-CLIP	20371350
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT479203	hsa-miR-940	PAR-CLIP	20371350
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT479197	hsa-miR-1827	PAR-CLIP	20371350
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT479193	hsa-miR-711	PAR-CLIP	20371350
MIRT479192	hsa-miR-3612	PAR-CLIP	20371350
MIRT479191	hsa-miR-650	PAR-CLIP	20371350
MIRT479190	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT479189	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT479188	hsa-miR-1273e	PAR-CLIP	20371350
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	20371350
MIRT479186	hsa-miR-4535	PAR-CLIP	20371350
MIRT479205	hsa-miR-302f	PAR-CLIP	20371350
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT479203	hsa-miR-940	PAR-CLIP	20371350
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT479197	hsa-miR-1827	PAR-CLIP	20371350
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT479193	hsa-miR-711	PAR-CLIP	20371350
MIRT479192	hsa-miR-3612	PAR-CLIP	20371350
MIRT479191	hsa-miR-650	PAR-CLIP	20371350
MIRT479188	hsa-miR-1273e	PAR-CLIP	20371350
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	20371350
MIRT479186	hsa-miR-4535	PAR-CLIP	20371350
MIRT479205	hsa-miR-302f	PAR-CLIP	23446348
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	23446348
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	23446348
MIRT479203	hsa-miR-940	PAR-CLIP	23446348
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	23446348
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	23446348
MIRT479199	hsa-miR-4649-3p	PAR-CLIP	23446348
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	23446348
MIRT479197	hsa-miR-1827	PAR-CLIP	23446348
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	23446348
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	23446348
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	23446348
MIRT479193	hsa-miR-711	PAR-CLIP	23446348
MIRT479192	hsa-miR-3612	PAR-CLIP	23446348
MIRT479191	hsa-miR-650	PAR-CLIP	23446348
MIRT479190	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT479189	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT479188	hsa-miR-1273e	PAR-CLIP	23446348
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	23446348
MIRT479186	hsa-miR-4535	PAR-CLIP	23446348
MIRT479205	hsa-miR-302f	PAR-CLIP	23592263
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT479203	hsa-miR-940	PAR-CLIP	23592263
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT479199	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT479197	hsa-miR-1827	PAR-CLIP	23592263
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT479193	hsa-miR-711	PAR-CLIP	23592263
MIRT479192	hsa-miR-3612	PAR-CLIP	23592263
MIRT479191	hsa-miR-650	PAR-CLIP	23592263
MIRT479190	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT479189	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT479188	hsa-miR-1273e	PAR-CLIP	23592263
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	23592263
MIRT479186	hsa-miR-4535	PAR-CLIP	23592263
MIRT894615	hsa-miR-103a	CLIP-seq
MIRT894616	hsa-miR-107	CLIP-seq
MIRT894617	hsa-miR-125a-3p	CLIP-seq
MIRT894618	hsa-miR-1285	CLIP-seq
MIRT894619	hsa-miR-15a	CLIP-seq
MIRT894620	hsa-miR-15b	CLIP-seq
MIRT894621	hsa-miR-16	CLIP-seq
MIRT894622	hsa-miR-195	CLIP-seq
MIRT894623	hsa-miR-29a	CLIP-seq
MIRT894624	hsa-miR-29b	CLIP-seq
MIRT894625	hsa-miR-29c	CLIP-seq
MIRT894626	hsa-miR-3180-5p	CLIP-seq
MIRT894627	hsa-miR-3187-5p	CLIP-seq
MIRT894628	hsa-miR-323-5p	CLIP-seq
MIRT894629	hsa-miR-330-3p	CLIP-seq
MIRT894630	hsa-miR-3545-3p	CLIP-seq
MIRT894631	hsa-miR-3622b-5p	CLIP-seq
MIRT894632	hsa-miR-3945	CLIP-seq
MIRT894633	hsa-miR-424	CLIP-seq
MIRT894634	hsa-miR-4253	CLIP-seq
MIRT894635	hsa-miR-4310	CLIP-seq
MIRT894636	hsa-miR-4422	CLIP-seq
MIRT894637	hsa-miR-4684-5p	CLIP-seq
MIRT894638	hsa-miR-497	CLIP-seq
MIRT894639	hsa-miR-520a-5p	CLIP-seq
MIRT894640	hsa-miR-525-5p	CLIP-seq
MIRT894641	hsa-miR-548c-3p	CLIP-seq
MIRT894642	hsa-miR-552	CLIP-seq
MIRT894643	hsa-miR-606	CLIP-seq
MIRT894644	hsa-miR-612	CLIP-seq
MIRT894645	hsa-miR-767-5p	CLIP-seq
MIRT894646	hsa-miR-876-3p	CLIP-seq
MIRT894647	hsa-miR-1228	CLIP-seq
MIRT894648	hsa-miR-24	CLIP-seq
MIRT894649	hsa-miR-342-3p	CLIP-seq
MIRT894650	hsa-miR-4284	CLIP-seq
MIRT894651	hsa-miR-4466	CLIP-seq
MIRT894652	hsa-miR-4746-3p	CLIP-seq
MIRT894653	hsa-miR-675	CLIP-seq
MIRT894654	hsa-let-7a	CLIP-seq
MIRT894655	hsa-let-7b	CLIP-seq
MIRT894656	hsa-let-7c	CLIP-seq
MIRT894657	hsa-let-7d	CLIP-seq
MIRT894658	hsa-let-7e	CLIP-seq
MIRT894659	hsa-let-7f	CLIP-seq
MIRT894660	hsa-let-7g	CLIP-seq
MIRT894661	hsa-let-7i	CLIP-seq
MIRT894662	hsa-miR-103b	CLIP-seq
MIRT894663	hsa-miR-10a	CLIP-seq
MIRT894664	hsa-miR-10b	CLIP-seq
MIRT894665	hsa-miR-1225-5p	CLIP-seq
MIRT894666	hsa-miR-127-5p	CLIP-seq
MIRT894667	hsa-miR-1292	CLIP-seq
MIRT894668	hsa-miR-1294	CLIP-seq
MIRT894669	hsa-miR-141	CLIP-seq
MIRT894670	hsa-miR-1912	CLIP-seq
MIRT894671	hsa-miR-196a	CLIP-seq
MIRT894672	hsa-miR-196b	CLIP-seq
MIRT894673	hsa-miR-200a	CLIP-seq
MIRT894674	hsa-miR-202	CLIP-seq
MIRT894675	hsa-miR-2052	CLIP-seq
MIRT894676	hsa-miR-2467-3p	CLIP-seq
MIRT894677	hsa-miR-3130-5p	CLIP-seq
MIRT894678	hsa-miR-3136-3p	CLIP-seq
MIRT894679	hsa-miR-3140-3p	CLIP-seq
MIRT894680	hsa-miR-3148	CLIP-seq
MIRT894681	hsa-miR-3156-5p	CLIP-seq
MIRT894682	hsa-miR-326	CLIP-seq
MIRT894683	hsa-miR-330-5p	CLIP-seq
MIRT894684	hsa-miR-338-5p	CLIP-seq
MIRT894685	hsa-miR-3671	CLIP-seq
MIRT894686	hsa-miR-3677-5p	CLIP-seq
MIRT894687	hsa-miR-3688-3p	CLIP-seq
MIRT894688	hsa-miR-383	CLIP-seq
MIRT894689	hsa-miR-3919	CLIP-seq
MIRT894690	hsa-miR-3927	CLIP-seq
MIRT894691	hsa-miR-4257	CLIP-seq
MIRT894692	hsa-miR-4272	CLIP-seq
MIRT894693	hsa-miR-4277	CLIP-seq
MIRT894694	hsa-miR-4316	CLIP-seq
MIRT894695	hsa-miR-4433	CLIP-seq
MIRT894696	hsa-miR-4436b-3p	CLIP-seq
MIRT894697	hsa-miR-4446-5p	CLIP-seq
MIRT894698	hsa-miR-4458	CLIP-seq
MIRT894699	hsa-miR-4459	CLIP-seq
MIRT894700	hsa-miR-4471	CLIP-seq
MIRT894701	hsa-miR-4482	CLIP-seq
MIRT894702	hsa-miR-4500	CLIP-seq
MIRT894703	hsa-miR-4536	CLIP-seq
MIRT894704	hsa-miR-4537	CLIP-seq
MIRT894705	hsa-miR-4648	CLIP-seq
MIRT894706	hsa-miR-4654	CLIP-seq
MIRT894707	hsa-miR-4676-5p	CLIP-seq
MIRT894708	hsa-miR-4677-3p	CLIP-seq
MIRT894709	hsa-miR-4695-5p	CLIP-seq
MIRT894710	hsa-miR-4731-3p	CLIP-seq
MIRT894711	hsa-miR-4761-3p	CLIP-seq
MIRT894712	hsa-miR-4768-3p	CLIP-seq
MIRT894713	hsa-miR-4769-5p	CLIP-seq
MIRT894714	hsa-miR-4772-5p	CLIP-seq
MIRT894715	hsa-miR-4797-5p	CLIP-seq
MIRT894716	hsa-miR-4801	CLIP-seq
MIRT894717	hsa-miR-516a-5p	CLIP-seq
MIRT894718	hsa-miR-539	CLIP-seq
MIRT894719	hsa-miR-575	CLIP-seq
MIRT894720	hsa-miR-582-5p	CLIP-seq
MIRT894721	hsa-miR-607	CLIP-seq
MIRT894722	hsa-miR-616	CLIP-seq
MIRT894723	hsa-miR-648	CLIP-seq
MIRT894724	hsa-miR-663b	CLIP-seq
MIRT894725	hsa-miR-98	CLIP-seq
MIRT1546454	hsa-miR-2355-5p	CLIP-seq
MIRT894679	hsa-miR-3140-3p	CLIP-seq
MIRT894692	hsa-miR-4272	CLIP-seq
MIRT894693	hsa-miR-4277	CLIP-seq
MIRT1546455	hsa-miR-455-3p	CLIP-seq
MIRT1546454	hsa-miR-2355-5p	CLIP-seq
MIRT1546455	hsa-miR-455-3p	CLIP-seq
MIRT1965338	hsa-miR-1253	CLIP-seq
MIRT1965339	hsa-miR-1587	CLIP-seq
MIRT1965340	hsa-miR-204	CLIP-seq
MIRT1965341	hsa-miR-211	CLIP-seq
MIRT894676	hsa-miR-2467-3p	CLIP-seq
MIRT1965342	hsa-miR-3121-5p	CLIP-seq
MIRT894679	hsa-miR-3140-3p	CLIP-seq
MIRT1965343	hsa-miR-3682-5p	CLIP-seq
MIRT894687	hsa-miR-3688-3p	CLIP-seq
MIRT1965344	hsa-miR-378g	CLIP-seq
MIRT1965345	hsa-miR-3978	CLIP-seq
MIRT1965346	hsa-miR-409-5p	CLIP-seq
MIRT1965347	hsa-miR-410	CLIP-seq
MIRT894691	hsa-miR-4257	CLIP-seq
MIRT894692	hsa-miR-4272	CLIP-seq
MIRT1965348	hsa-miR-4276	CLIP-seq
MIRT894693	hsa-miR-4277	CLIP-seq
MIRT1965349	hsa-miR-4428	CLIP-seq
MIRT1965350	hsa-miR-4435	CLIP-seq
MIRT1965351	hsa-miR-4457	CLIP-seq
MIRT894699	hsa-miR-4459	CLIP-seq
MIRT1965352	hsa-miR-4492	CLIP-seq
MIRT1965353	hsa-miR-4498	CLIP-seq
MIRT1965354	hsa-miR-4505	CLIP-seq
MIRT1965355	hsa-miR-4524	CLIP-seq
MIRT894704	hsa-miR-4537	CLIP-seq
MIRT1965356	hsa-miR-4656	CLIP-seq
MIRT1965357	hsa-miR-4675	CLIP-seq
MIRT894709	hsa-miR-4695-5p	CLIP-seq
MIRT1965358	hsa-miR-4741	CLIP-seq
MIRT1965359	hsa-miR-4755-5p	CLIP-seq
MIRT1965360	hsa-miR-4802-3p	CLIP-seq
MIRT1965361	hsa-miR-503	CLIP-seq
MIRT1965362	hsa-miR-513b	CLIP-seq
MIRT894639	hsa-miR-520a-5p	CLIP-seq
MIRT894640	hsa-miR-525-5p	CLIP-seq
MIRT894720	hsa-miR-582-5p	CLIP-seq
MIRT1965363	hsa-miR-587	CLIP-seq
MIRT1965364	hsa-miR-623	CLIP-seq
MIRT1965365	hsa-miR-659	CLIP-seq
MIRT894724	hsa-miR-663b	CLIP-seq
MIRT1965366	hsa-miR-762	CLIP-seq
MIRT1965367	hsa-miR-4418	CLIP-seq
MIRT1965368	hsa-miR-4503	CLIP-seq
MIRT1965369	hsa-miR-509-3-5p	CLIP-seq
MIRT1965370	hsa-miR-509-5p	CLIP-seq
MIRT2201286	hsa-miR-1237	CLIP-seq
MIRT2201287	hsa-miR-3119	CLIP-seq
MIRT2201288	hsa-miR-3124-3p	CLIP-seq
MIRT1965356	hsa-miR-4656	CLIP-seq
MIRT2201289	hsa-miR-4756-3p	CLIP-seq
MIRT894639	hsa-miR-520a-5p	CLIP-seq
MIRT894640	hsa-miR-525-5p	CLIP-seq
MIRT2201290	hsa-miR-1293	CLIP-seq
MIRT894676	hsa-miR-2467-3p	CLIP-seq
MIRT2201291	hsa-miR-3165	CLIP-seq
MIRT2201292	hsa-miR-3689a-3p	CLIP-seq
MIRT2201293	hsa-miR-3689c	CLIP-seq
MIRT894691	hsa-miR-4257	CLIP-seq
MIRT2201294	hsa-miR-448	CLIP-seq
MIRT2201295	hsa-miR-4483	CLIP-seq
MIRT894704	hsa-miR-4537	CLIP-seq
MIRT2201296	hsa-miR-548aa	CLIP-seq
MIRT894720	hsa-miR-582-5p	CLIP-seq
MIRT2201297	hsa-miR-890	CLIP-seq
MIRT2386122	hsa-miR-1224-3p	CLIP-seq
MIRT2386123	hsa-miR-1260	CLIP-seq
MIRT2386124	hsa-miR-1260b	CLIP-seq
MIRT2386125	hsa-miR-1273f	CLIP-seq
MIRT2386126	hsa-miR-1280	CLIP-seq
MIRT2201290	hsa-miR-1293	CLIP-seq
MIRT894619	hsa-miR-15a	CLIP-seq
MIRT894620	hsa-miR-15b	CLIP-seq
MIRT894621	hsa-miR-16	CLIP-seq
MIRT894622	hsa-miR-195	CLIP-seq
MIRT2386127	hsa-miR-2114	CLIP-seq
MIRT2386128	hsa-miR-299-5p	CLIP-seq
MIRT2386129	hsa-miR-3122	CLIP-seq
MIRT894679	hsa-miR-3140-3p	CLIP-seq
MIRT2386130	hsa-miR-3652	CLIP-seq
MIRT2201292	hsa-miR-3689a-3p	CLIP-seq
MIRT2201293	hsa-miR-3689c	CLIP-seq
MIRT2386131	hsa-miR-3913-5p	CLIP-seq
MIRT894633	hsa-miR-424	CLIP-seq
MIRT894692	hsa-miR-4272	CLIP-seq
MIRT894693	hsa-miR-4277	CLIP-seq
MIRT2386132	hsa-miR-4292	CLIP-seq
MIRT2386133	hsa-miR-4303	CLIP-seq
MIRT2386134	hsa-miR-4308	CLIP-seq
MIRT1965367	hsa-miR-4418	CLIP-seq
MIRT2386135	hsa-miR-4430	CLIP-seq
MIRT2201295	hsa-miR-4483	CLIP-seq
MIRT2386136	hsa-miR-4640-5p	CLIP-seq
MIRT2386137	hsa-miR-4682	CLIP-seq
MIRT2386138	hsa-miR-4726-5p	CLIP-seq
MIRT2386139	hsa-miR-4728-5p	CLIP-seq
MIRT2386140	hsa-miR-4802-5p	CLIP-seq
MIRT894638	hsa-miR-497	CLIP-seq
MIRT1965369	hsa-miR-509-3-5p	CLIP-seq
MIRT1965370	hsa-miR-509-5p	CLIP-seq
MIRT2386141	hsa-miR-627	CLIP-seq
MIRT2386142	hsa-miR-670	CLIP-seq
MIRT2386143	hsa-miR-885-3p	CLIP-seq
MIRT2201297	hsa-miR-890	CLIP-seq
MIRT2386144	hsa-miR-924	CLIP-seq
MIRT2386145	hsa-miR-933	CLIP-seq
MIRT2427339	hsa-miR-21	CLIP-seq
MIRT2427340	hsa-miR-590-5p	CLIP-seq
MIRT2427339	hsa-miR-21	CLIP-seq
MIRT2427340	hsa-miR-590-5p	CLIP-seq
MIRT894618	hsa-miR-1285	CLIP-seq
MIRT894675	hsa-miR-2052	CLIP-seq
MIRT894680	hsa-miR-3148	CLIP-seq
MIRT894627	hsa-miR-3187-5p	CLIP-seq
MIRT894631	hsa-miR-3622b-5p	CLIP-seq
MIRT894687	hsa-miR-3688-3p	CLIP-seq
MIRT894632	hsa-miR-3945	CLIP-seq
MIRT894634	hsa-miR-4253	CLIP-seq
MIRT894637	hsa-miR-4684-5p	CLIP-seq
MIRT894641	hsa-miR-548c-3p	CLIP-seq
MIRT894644	hsa-miR-612	CLIP-seq
MIRT894618	hsa-miR-1285	CLIP-seq
MIRT894627	hsa-miR-3187-5p	CLIP-seq
MIRT894632	hsa-miR-3945	CLIP-seq
MIRT894634	hsa-miR-4253	CLIP-seq
MIRT894637	hsa-miR-4684-5p	CLIP-seq
MIRT894641	hsa-miR-548c-3p	CLIP-seq
MIRT894644	hsa-miR-612	CLIP-seq
MIRT2386125	hsa-miR-1273f	CLIP-seq
MIRT894618	hsa-miR-1285	CLIP-seq
MIRT2201290	hsa-miR-1293	CLIP-seq
MIRT2386129	hsa-miR-3122	CLIP-seq
MIRT894627	hsa-miR-3187-5p	CLIP-seq
MIRT894631	hsa-miR-3622b-5p	CLIP-seq
MIRT2201292	hsa-miR-3689a-3p	CLIP-seq
MIRT2201293	hsa-miR-3689c	CLIP-seq
MIRT2386131	hsa-miR-3913-5p	CLIP-seq
MIRT894632	hsa-miR-3945	CLIP-seq
MIRT894634	hsa-miR-4253	CLIP-seq
MIRT2201295	hsa-miR-4483	CLIP-seq
MIRT894637	hsa-miR-4684-5p	CLIP-seq
MIRT2386139	hsa-miR-4728-5p	CLIP-seq
MIRT894641	hsa-miR-548c-3p	CLIP-seq
MIRT894644	hsa-miR-612	CLIP-seq
MIRT894618	hsa-miR-1285	CLIP-seq
MIRT894627	hsa-miR-3187-5p	CLIP-seq
MIRT894631	hsa-miR-3622b-5p	CLIP-seq
MIRT894632	hsa-miR-3945	CLIP-seq
MIRT894634	hsa-miR-4253	CLIP-seq
MIRT894637	hsa-miR-4684-5p	CLIP-seq
MIRT2678233	hsa-miR-4699-5p	CLIP-seq
MIRT2678234	hsa-miR-4709-3p	CLIP-seq
MIRT894641	hsa-miR-548c-3p	CLIP-seq
MIRT894644	hsa-miR-612	CLIP-seq
MIRT894691	hsa-miR-4257	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
TFAP4	Unknown	15086899

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003014	Process	Renal system process	IMP	8559248
GO:0005247	Function	Voltage-gated chloride channel activity	IBA
GO:0005247	Function	Voltage-gated chloride channel activity	IEA
GO:0005247	Function	Voltage-gated chloride channel activity	IMP	8559248
GO:0005254	Function	Chloride channel activity	IEA
GO:0005515	Function	Protein binding	IPI	19940036
GO:0005524	Function	ATP binding	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IBA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006821	Process	Chloride transport	IMP	8559248
GO:0006897	Process	Endocytosis	IEA
GO:0008021	Component	Synaptic vesicle	IBA
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0015297	Function	Antiporter activity	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	14675051
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0042802	Function	Identical protein binding	IPI	17195847
GO:0045177	Component	Apical part of cell	IDA	14675051
GO:0045177	Component	Apical part of cell	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
300008	2023	ENSG00000171365

P51795

Protein name

H(+)/Cl(-) exchange transporter 5 (Chloride channel protein 5) (ClC-5) (Chloride transporter ClC-5)

Protein function

Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons (PubMed:20466723). Important for normal acidification of the endosome lumen. May play an important role in renal tubular function. The

PDB

2J9L , 2JA3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00654	Voltage_CLC	149 → 551	Voltage gated chloride channel	Family
PF00571	CBS	582 → 646	CBS domain	Domain
PF00571	CBS	679 → 734	CBS domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Kidney. Moderately expressed in aortic vascular smooth muscle and endothelial cells, and at a slightly higher level in the coronary vascular smooth muscle. {ECO:0000269|PubMed:10198195}.

Sequence

MAMWQGAMDNRGFQQGSFSSFQNSSSDEDLMDIPATAMDFSMRDDVPPLDREVGEDKSYN
GGGIGSSNRIMDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHS
VSDAFSGWLLMLLIGLLSGSLAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNSEHVTF
EERDKCPEWNSWSQLIISTDEGAFAYIVNYFMYVLWALLFAFLAVSLVKVFAPYACGSGI
PEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGKEGPLVHVACCCGNILCHCFN
KYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAF
TLRSINPFGNSRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTT
QLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTS
KGGELPDRPAGVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLG
VGMEQLAYYHQEWTVFNSWCSQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIMFELTG
GLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGYPFLEAKEEFAHKTLAMDVMKPRR
NDPLLTVLTQDSMTVEDVETIISETTYSGFPVVVSRESQRLVGFVLRRDLIISIENARKK
QDGVVSTSIIYFTEHSPPLPPYTPPTLKLRNILDLSPFTVTDLTPMEIVVDIFRKLGLRQ
CLVTHNGRLLGIITKKDVLKHIAQMANQDPDSILFN

Sequence length

816

Interactions

View interactions

	KEGG		Reactome
	Neutrophil extracellular trap formation		Stimuli-sensing channels

449

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CLCN5-related disorder	Likely pathogenic; Pathogenic	rs797044808, rs151340626, rs2519444688, rs2519445104	RCV003417691 RCV003398487 RCV003397449 RCV003393020
Dent disease	Pathogenic	rs797044813	RCV003401037
Dent disease type 1	Pathogenic; Likely pathogenic	rs2147594126, rs2147582103, rs2147594243, rs782720805, rs2147605760, rs2147596542, rs2147606263, rs2519435022, rs797044808, rs797044810, rs797044811, rs797044812, rs797044813, rs797044814, rs797044815 View all (44 more)	RCV001580334 RCV001580335 RCV001814743 RCV001843320 RCV001849668 RCV002249363 RCV004797987 RCV002471347 RCV000192273 RCV000192276 RCV000192277 RCV000192278 RCV000192279 RCV000192280 RCV000192282 RCV003148277 RCV000012563 RCV000012565 RCV000012566 RCV000012567 RCV002266901 RCV000192274 RCV006249556 RCV000012576 RCV003340975 RCV003388753 RCV003454386 RCV005047704 RCV003986004 RCV003991287 RCV003991336 RCV003991884 RCV003992030 RCV000012577 RCV004556892 RCV004595283 RCV004595286 RCV004595287 RCV000505611 RCV000578351 RCV000995509 RCV000033877 RCV000679942 RCV000714293 RCV001195723 RCV001200668 RCV001200917 RCV001200918 RCV001200919 RCV001200921 RCV001250478 RCV001251505 RCV001252964 RCV001251460 RCV001262324 RCV002480886 RCV001328284 RCV001328285 RCV001280860
Familial X-linked hypophosphatemic vitamin D refractory rickets	Likely pathogenic; Pathogenic	rs797044808	RCV004546452
Hyperkalemia	Likely pathogenic	rs1557194090	RCV000626586
Hypophosphatemic rickets, X-linked recessive	Likely pathogenic; Pathogenic	rs2147594243, rs797044808, rs797044810, rs797044812, rs797044813, rs797044814, rs151340626, rs151340627, rs2519422486, rs2519440480, rs1557194353, rs1049618423, rs1933891368, rs1933713383, rs1933979876	RCV001814743 RCV006249605 RCV005042406 RCV005049467 RCV002478667 RCV006249606 RCV000012570 RCV006249556 RCV005047704 RCV005040695 RCV002481632 RCV002497222 RCV005040008 RCV002480886 RCV002499463
Low-molecular-weight proteinuria	Likely pathogenic	rs1557194090	RCV000626586
Multiple small medullary renal cysts	Likely pathogenic	rs1557194090	RCV000626586
Nephrotic syndrome	Pathogenic; Likely pathogenic	rs1933652537, rs1933713383	RCV001328282 RCV001328283
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	Likely pathogenic; Pathogenic	rs2147594243, rs2147606263, rs797044808, rs797044810, rs797044812, rs797044813, rs797044814, rs151340620, rs151340626, rs151340627, rs1569540520, rs151340628, rs2519434988, rs2519422486, rs2519440480 View all (6 more)	RCV001814743 RCV002251020 RCV006249605 RCV005042406 RCV005049467 RCV001813768 RCV006249606 RCV000012564 RCV002482856 RCV000012571 RCV000012572 RCV000012573 RCV003448772 RCV005047704 RCV005040695 RCV002481632 RCV002497222 RCV005040008 RCV001250540 RCV002480886 RCV002499463
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs797044810, rs1933378481	RCV005892209 RCV005909310
X-linked recessive nephrolithiasis with renal failure	Likely pathogenic; Pathogenic	rs2147594243, rs797044808, rs797044810, rs797044812, rs797044813, rs797044814, rs151340625, rs151340626, rs151340627, rs151340629, rs2519422486, rs2519440480, rs1557194353, rs1049618423, rs1933891368, rs1933713383, rs1933979876 View all (2 more)	RCV001814743 RCV006249605 RCV005042406 RCV005049467 RCV002478667 RCV006249606 RCV002468922 RCV002482856 RCV006249556 RCV002468923 RCV005047704 RCV005040695 RCV002481632 RCV002497222 RCV005040008 RCV002480886 RCV002499463

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Uncertain significance	rs6651602, rs1602123559	RCV005900619 RCV005912415
Bethlem myopathy 1A	Benign; Likely benign	rs56117808	RCV001258307
Familial pancreatic carcinoma	Benign; Likely benign	rs56117808	RCV005912276
Lung cancer	Benign	rs6651602	RCV005900621
Malignant tumor of esophagus	Benign	rs6651602	RCV005900620
Nonpapillary renal cell carcinoma	Uncertain significance; Conflicting classifications of pathogenicity	rs2519445634, rs782031818	RCV005926704 RCV005926708

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	9328929
Adenocarcinoma	Associate	10620205
Albuminuria	Associate	32495484
Cholangiocarcinoma	Associate	35651328
Chronic Traumatic Encephalopathy	Associate	29338612
Dent Disease	Associate	10469281, 10620205, 10916075, 12631345, 15086899, 15140760, 16686597, 17982249, 18480301, 19019917, 22441187, 23047739, 23572577, 24398869, 27117801 View all (21 more)
Dent disease 1	Associate	27117801, 27174143, 29084614, 30852663, 32201916, 32393202, 33107589, 33430795, 33600050, 37356184, 38256038, 9893114
Dent Disease 2	Associate	23047739, 34547705
Diabetes Mellitus	Stimulate	23029130
Familial Hypophosphatemic Rickets	Associate	9452997
Fanconi Syndrome	Associate	15140760, 33430795, 37641036
Genital Diseases	Associate	32393202
Glioma	Associate	12843258
Glomerulonephritis	Associate	32019767
Glomerulonephritis Membranous	Associate	23029130
Growth Disorders	Associate	30630535, 32393202
Hereditary renal agenesis	Associate	38256038
Hypercalciuria	Associate	11984501, 23572577, 33600050, 38267993, 39582457, 9328929
Hypercalciuria Absorptive 2	Associate	15692680
Hypokalemia Familial	Associate	15627218, 9328927, 9328929, 9893114
Intellectual Disability	Associate	30630535
Kidney Calculi	Associate	35612621, 9734595
Kidney Diseases	Associate	16686597, 23029130, 36408280, 36674829, 37248651, 37641036, 9734595
Kidney Failure Chronic	Associate	12631345
Leukemia Lymphocytic Chronic B Cell	Associate	25909590
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis	Associate	32393202, 9328927, 9893114
Microcephaly	Associate	30630535
Multiple Myeloma	Associate	28899456
Myopathy with Giant Abnormal Mitochondria	Associate	38256038
Neoplasms	Associate	35651328
Nephrocalcinosis	Associate	29756720, 35612621, 9328929
Nephrolithiasis	Associate	10916075, 11984501, 23572577, 29756720, 40428323, 9734595
Nephrolithiasis X Linked Recessive with Renal Failure	Associate	15086899, 9734595, 9893114
Nephrotic Syndrome	Associate	24398869
Orofaciodigital syndrome 11	Associate	30630535
Osteomalacia	Associate	30101934
Osteoporosis	Associate	32393202
Proteinuria	Associate	11984501, 15692680, 16686597, 17982249, 23029130, 23572577, 24398869, 29084614, 30852663, 32019767, 32393202, 32495484, 33430795, 33600050, 37641036, 38256038, 38267993, 9328929, 9653142 View all (4 more)
Psychomotor Disorders	Associate	30630535
Renal Insufficiency	Associate	10916075, 23572577, 9452997, 9893114
Renal Insufficiency Chronic	Associate	34547705, 40262004
Rickets	Associate	27174143, 9734595
Rickets Hypophosphatemic	Associate	22695891
Syndrome	Associate	37537162
Turner Syndrome	Associate	32393202

CLCN5 (chloride voltage-gated channel 5)