full name
chloride voltage-gated channel 5

synonyms
ClC-5, CLC5, CLCK2, DENTS, hCIC-K2, NPHL1, NPHL2, XLRH, XRN, CLCN5, ENSG00000171365

HGNC
HGNC:2023

Entrez Gene
Gene:1184

ENSEMBL
ENSG00000171365
ENSG00000269240

location
chr: X
start: 49687225
stop: 49863892
strand: +

OMIM
OMIM:300008: CLCN5 (X-linked recessive inheritance)
OMIM:300009: Dent disease
OMIM:300554: Hypophosphatemic rickets
OMIM:310468: Nephrolithiasis, type I
OMIM:308990: Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis

transcripts
NM_001127899.2
NM_001127898.2
NM_001272102.1
NM_000084.3
NR_073607.1

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]