full name
chloride voltage-gated channel 2

synonyms
CIC-2, clC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, CLCN2, ENSG00000114859

HGNC
HGNC:2020

Entrez Gene
Gene:1181

ENSEMBL
ENSG00000114859

location
chr: 3
start: 184063973
stop: 184079439
strand: -

OMIM
OMIM:600570: CLCN2
OMIM:605635: Hyperaldosteronism, familial, type II
OMIM:615651: Leukoencephalopathy with ataxia
OMIM:607628: {Epilepsy, idiopathic generalized, susceptibility to, 11}
OMIM:607628: {Epilepsy, juvenile absence, susceptibility to, 2}
OMIM:607628: {Epilepsy, juvenile myoclonic, susceptibility to, 8}

transcripts
NM_001171088.2
NM_001171087.2
NM_001171089.2
NM_004366.5

pathways
Ion channel transport [NCBI:1269950] [REACTOME:R-HSA-983712] [PUBMED:15071553]
Mineral absorption [NCBI:212237] [KEGG:hsa04978] [PUBMED:20120011] [PUBMED:12520535] [PUBMED:15618484] [PUBMED:17194590] [PUBMED:21054167] [PUBMED:19448074] [PUBMED:18779302] [PUBMED:18598134] [PUBMED:18277073] [PUBMED:18301276] [PUBMED:19400752] [PUBMED:16431934] [PUBMED:19729436] [PUBMED:18636652] [PUBMED:17943492] [PUBMED:16565477] [PUBMED:18779306]
Stimuli-sensing channels [NCBI:1269953] [REACTOME:R-HSA-2672351] [PUBMED:15728426] [PUBMED:16460286] [PUBMED:12907679] [PUBMED:18391176] [PUBMED:19278523] [PUBMED:11904445] [PUBMED:22934072] [PUBMED:20807551] [PUBMED:19783045] [PUBMED:16219661] [PUBMED:21932071] [PUBMED:22277752]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]