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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84230
Gene name	Leucine rich repeat containing 8 VRAC subunit C
Gene symbol	LRRC8C
Synonyms (NCBI Gene)	AD158FAD158TIMES
Chromosome	1
Chromosome location	1p22.2

144

Show/Hide all (144)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005169	hsa-miR-30a-5p	pSILAC	18668040
MIRT022568	hsa-miR-124-3p	Microarray	18668037
MIRT023754	hsa-miR-1-3p	Proteomics	18668040
MIRT023754	hsa-miR-1-3p	Microarray	18668037
MIRT026398	hsa-miR-192-5p	Microarray	19074876
MIRT005169	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT1120674	hsa-miR-1207-5p	CLIP-seq
MIRT1120675	hsa-miR-1262	CLIP-seq
MIRT1120676	hsa-miR-1323	CLIP-seq
MIRT1120677	hsa-miR-133a	CLIP-seq
MIRT1120678	hsa-miR-133b	CLIP-seq
MIRT1120679	hsa-miR-140-5p	CLIP-seq
MIRT1120680	hsa-miR-147	CLIP-seq
MIRT1120681	hsa-miR-15a	CLIP-seq
MIRT1120682	hsa-miR-15b	CLIP-seq
MIRT1120683	hsa-miR-16	CLIP-seq
MIRT1120684	hsa-miR-1909	CLIP-seq
MIRT1120685	hsa-miR-195	CLIP-seq
MIRT1120686	hsa-miR-2053	CLIP-seq
MIRT1120687	hsa-miR-2113	CLIP-seq
MIRT1120688	hsa-miR-224	CLIP-seq
MIRT1120689	hsa-miR-2909	CLIP-seq
MIRT1120690	hsa-miR-300	CLIP-seq
MIRT1120691	hsa-miR-30a	CLIP-seq
MIRT1120692	hsa-miR-30b	CLIP-seq
MIRT1120693	hsa-miR-30c	CLIP-seq
MIRT1120694	hsa-miR-30d	CLIP-seq
MIRT1120695	hsa-miR-30e	CLIP-seq
MIRT1120696	hsa-miR-3148	CLIP-seq
MIRT1120697	hsa-miR-3162-5p	CLIP-seq
MIRT1120698	hsa-miR-3177-5p	CLIP-seq
MIRT1120699	hsa-miR-3179	CLIP-seq
MIRT1120700	hsa-miR-3185	CLIP-seq
MIRT1120701	hsa-miR-3202	CLIP-seq
MIRT1120702	hsa-miR-330-3p	CLIP-seq
MIRT1120703	hsa-miR-338-5p	CLIP-seq
MIRT1120704	hsa-miR-3609	CLIP-seq
MIRT1120705	hsa-miR-3653	CLIP-seq
MIRT1120706	hsa-miR-3658	CLIP-seq
MIRT1120707	hsa-miR-3688-3p	CLIP-seq
MIRT1120708	hsa-miR-369-3p	CLIP-seq
MIRT1120709	hsa-miR-374a	CLIP-seq
MIRT1120710	hsa-miR-374b	CLIP-seq
MIRT1120711	hsa-miR-381	CLIP-seq
MIRT1120712	hsa-miR-3936	CLIP-seq
MIRT1120713	hsa-miR-424	CLIP-seq
MIRT1120714	hsa-miR-4271	CLIP-seq
MIRT1120715	hsa-miR-4289	CLIP-seq
MIRT1120716	hsa-miR-4422	CLIP-seq
MIRT1120717	hsa-miR-4527	CLIP-seq
MIRT1120718	hsa-miR-4639-5p	CLIP-seq
MIRT1120719	hsa-miR-4651	CLIP-seq
MIRT1120720	hsa-miR-4666-3p	CLIP-seq
MIRT1120721	hsa-miR-4668-5p	CLIP-seq
MIRT1120722	hsa-miR-4701-3p	CLIP-seq
MIRT1120723	hsa-miR-4719	CLIP-seq
MIRT1120724	hsa-miR-4725-3p	CLIP-seq
MIRT1120725	hsa-miR-4738-3p	CLIP-seq
MIRT1120726	hsa-miR-4742-3p	CLIP-seq
MIRT1120727	hsa-miR-4747-5p	CLIP-seq
MIRT1120728	hsa-miR-4763-3p	CLIP-seq
MIRT1120729	hsa-miR-4797-5p	CLIP-seq
MIRT1120730	hsa-miR-494	CLIP-seq
MIRT1120731	hsa-miR-496	CLIP-seq
MIRT1120732	hsa-miR-497	CLIP-seq
MIRT1120733	hsa-miR-548ae	CLIP-seq
MIRT1120734	hsa-miR-548ah	CLIP-seq
MIRT1120735	hsa-miR-548aj	CLIP-seq
MIRT1120736	hsa-miR-548am	CLIP-seq
MIRT1120737	hsa-miR-548o	CLIP-seq
MIRT1120738	hsa-miR-548x	CLIP-seq
MIRT1120739	hsa-miR-587	CLIP-seq
MIRT1120740	hsa-miR-599	CLIP-seq
MIRT1120741	hsa-miR-608	CLIP-seq
MIRT1120742	hsa-miR-653	CLIP-seq
MIRT1120743	hsa-miR-888	CLIP-seq
MIRT1120744	hsa-miR-9	CLIP-seq
MIRT2034178	hsa-miR-23a	CLIP-seq
MIRT2034179	hsa-miR-23b	CLIP-seq
MIRT2034180	hsa-miR-23c	CLIP-seq
MIRT2034181	hsa-miR-3074-3p	CLIP-seq
MIRT2034182	hsa-miR-3136-5p	CLIP-seq
MIRT2034183	hsa-miR-3670	CLIP-seq
MIRT2034184	hsa-miR-410	CLIP-seq
MIRT2034185	hsa-miR-4282	CLIP-seq
MIRT2034186	hsa-miR-4439	CLIP-seq
MIRT2034187	hsa-miR-452	CLIP-seq
MIRT1120720	hsa-miR-4666-3p	CLIP-seq
MIRT2034188	hsa-miR-4676-3p	CLIP-seq
MIRT2034189	hsa-miR-4720-3p	CLIP-seq
MIRT2034190	hsa-miR-4742-5p	CLIP-seq
MIRT2034191	hsa-miR-4804-3p	CLIP-seq
MIRT2034192	hsa-miR-501-3p	CLIP-seq
MIRT2034193	hsa-miR-502-3p	CLIP-seq
MIRT2034194	hsa-miR-513a-3p	CLIP-seq
MIRT2034195	hsa-miR-518d-5p	CLIP-seq
MIRT2034196	hsa-miR-519b-5p	CLIP-seq
MIRT2034197	hsa-miR-519c-5p	CLIP-seq
MIRT2034198	hsa-miR-520c-5p	CLIP-seq
MIRT2034199	hsa-miR-522	CLIP-seq
MIRT2034200	hsa-miR-526a	CLIP-seq
MIRT2034201	hsa-miR-548c-3p	CLIP-seq
MIRT2034202	hsa-miR-622	CLIP-seq
MIRT1120743	hsa-miR-888	CLIP-seq
MIRT2034203	hsa-miR-943	CLIP-seq
MIRT2264544	hsa-miR-1246	CLIP-seq
MIRT2264545	hsa-miR-139-5p	CLIP-seq
MIRT2264546	hsa-miR-181a	CLIP-seq
MIRT2264547	hsa-miR-181b	CLIP-seq
MIRT2264548	hsa-miR-181c	CLIP-seq
MIRT2264549	hsa-miR-181d	CLIP-seq
MIRT2034178	hsa-miR-23a	CLIP-seq
MIRT2034179	hsa-miR-23b	CLIP-seq
MIRT2034180	hsa-miR-23c	CLIP-seq
MIRT2264550	hsa-miR-3117-5p	CLIP-seq
MIRT2264551	hsa-miR-3129-3p	CLIP-seq
MIRT2264552	hsa-miR-3134	CLIP-seq
MIRT2264553	hsa-miR-329	CLIP-seq
MIRT1120702	hsa-miR-330-3p	CLIP-seq
MIRT2264554	hsa-miR-362-3p	CLIP-seq
MIRT2264555	hsa-miR-376a	CLIP-seq
MIRT2264556	hsa-miR-376b	CLIP-seq
MIRT2264557	hsa-miR-3941	CLIP-seq
MIRT2264558	hsa-miR-4262	CLIP-seq
MIRT2264559	hsa-miR-4420	CLIP-seq
MIRT2264560	hsa-miR-4436b-5p	CLIP-seq
MIRT2264561	hsa-miR-4534	CLIP-seq
MIRT1120718	hsa-miR-4639-5p	CLIP-seq
MIRT1120723	hsa-miR-4719	CLIP-seq
MIRT2034189	hsa-miR-4720-3p	CLIP-seq
MIRT2264562	hsa-miR-4760-3p	CLIP-seq
MIRT2034191	hsa-miR-4804-3p	CLIP-seq
MIRT1120731	hsa-miR-496	CLIP-seq
MIRT2264563	hsa-miR-570	CLIP-seq
MIRT1120739	hsa-miR-587	CLIP-seq
MIRT2264564	hsa-miR-603	CLIP-seq
MIRT1120743	hsa-miR-888	CLIP-seq
MIRT1120740	hsa-miR-599	CLIP-seq
MIRT2034181	hsa-miR-3074-3p	CLIP-seq
MIRT2453415	hsa-miR-361-5p	CLIP-seq
MIRT2453416	hsa-miR-889	CLIP-seq
MIRT2034181	hsa-miR-3074-3p	CLIP-seq
MIRT2453415	hsa-miR-361-5p	CLIP-seq
MIRT2453416	hsa-miR-889	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005225	Function	Volume-sensitive anion channel activity	IBA
GO:0005225	Function	Volume-sensitive anion channel activity	IEA
GO:0005225	Function	Volume-sensitive anion channel activity	IMP	26824658, 39623139
GO:0005225	Function	Volume-sensitive anion channel activity	ISS
GO:0005515	Function	Protein binding	IPI	24790029
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	24790029
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	24790029
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	26824658
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0015734	Process	Taurine transmembrane transport	IEA
GO:0015810	Process	Aspartate transmembrane transport	IBA
GO:0015810	Process	Aspartate transmembrane transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0034214	Process	Protein hexamerization	IEA
GO:0034214	Process	Protein hexamerization	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IBA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034702	Component	Monoatomic ion channel complex	ISS
GO:0045444	Process	Fat cell differentiation	IEA
GO:0071470	Process	Cellular response to osmotic stress	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	IBA
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	IMP	24790029
GO:0098656	Process	Monoatomic anion transmembrane transport	ISS
GO:0140361	Process	Cyclic-GMP-AMP transmembrane import across plasma membrane	IBA
GO:0140361	Process	Cyclic-GMP-AMP transmembrane import across plasma membrane	IDA	33171122

MIM	HGNC	e!Ensembl
612889	25075	ENSG00000171488

Q8TDW0

Protein name

Volume-regulated anion channel subunit LRRC8C (Factor for adipocyte differentiation 158) (Leucine-rich repeat-containing protein 8C)

Protein function

Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:2

PDB

8DXN , 8DXO , 8DXP , 8DXQ , 8DXR , 8RTS , 9EZC , 9F16

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12534	Pannexin_like	1 → 338	Pannexin-like TM region of LRRC8	Family
PF13855	LRR_8	589 → 649	Leucine rich repeat	Repeat
PF13855	LRR_8	637 → 695	Leucine rich repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed at highest levels in skeletal muscle, and at moderate levels in heart, lung and peripheral blood leukocytes. {ECO:0000269|PubMed:15564382}.

Sequence

MIPVTEFRQFSEQQPAFRVLKPWWDVFTDYLSVAMLMIGVFGCTLQVMQDKIICLPKRVQ
PAQNHSSLSNVSQAVASTTPLPPPKPSPANPITVEMKGLKTDLDLQQYSFINQMCYERAL
HWYAKYFPYLVLIHTLVFMLCSNFWFKFPGSSSKIEHFISILGKCFDSPWTTRALSEVSG
EDSEEKDNRKNNMNRSNTIQSGPEDSLVNSQSLKSIPEKFVVDKSTAGALDKKEGEQAKA
LFEKVKKFRLHVEEGDILYAMYVRQTVLKVIKFLIIIAYNSALVSKVQFTVDCNVDIQDM
TGYKNFSCNHTMAHLFSKLSFCYLCFVSIYGLTCLYTLYWLFYRSLREYSFEYVRQETGI
DDIPDVKNDFAFMLHMIDQYDPLYSKRFAVFLSEVSENKLKQLNLNNEWTPDKLRQKLQT
NAHNRLELPLIMLSGLPDTVFEITELQSLKLEIIKNVMIPATIAQLDNLQELSLHQCSVK
IHSAALSFLKENLKVLSVKFDDMRELPPWMYGLRNLEELYLVGSLSHDISRNVTLESLRD
LKSLKILSIKSNVSKIPQAVVDVSSHLQKMCIHNDGTKLVMLNNLKKMTNLTELELVHCD
LERIPHAVFSLLSLQELDLKENNLKSIEEIVSFQHLRKLTVLKLWHNSITYIPEHIKKLT
SLERLSFSHNKIEVLPSHLFLCNKIRYLDLSYNDIRFIPPEIGVLQSLQYFSITCNKVES
LPDELYFCKKLKTLKIGKNSLSVLSPKIGNLLFLSYLDVKGNHFEILPPELGDCRALKRA
GLVVEDALFETLPSDVREQMKTE

Sequence length

803

Interactions

View interactions

	Reactome
			Miscellaneous transport and binding events

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TELANGIECTASIA, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, METAPHYSEAL DYSPLASIA, EYE ABNORMALITIES, AND SHORT STATURE	—	ClinVar, HPO ClinVar, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	34112765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	33932953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38025711	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

LRRC8C (leucine rich repeat containing 8 VRAC subunit C)