full name
chloride voltage-gated channel 7

synonyms
CLC-7, CLC7, OPTA2, OPTB4, PPP1R63, CLCN7, ENSG00000103249

HGNC
HGNC:2025

Entrez Gene
Gene:1186

ENSEMBL
ENSG00000103249

location
chr: 16
start: 1494934
stop: 1525085
strand: -

OMIM
OMIM:602727: CLCN7 (Autosomal dominant inheritance)
OMIM:166600: Osteopetrosis, autosomal dominant 2
OMIM:611490: Osteopetrosis, autosomal recessive 4

transcripts
NM_001114331.2
NM_001287.5

pathways
Ion channel transport [NCBI:1269950] [REACTOME:R-HSA-983712] [PUBMED:15071553]
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]