CLCN2 (chloride voltage-gated channel 2)

2014-06-01  

Identity

HGNC
LOCATION
3q27.1
LOCUSID
ALIAS
CIC-2,CLC2,ECA2,ECA3,EGI11,EGI3,EGMA,EJM6,EJM8,HALD2,LKPAT,clC-2
FUSION GENES

Other Information

Locus ID:

NCBI: 1181
MIM: 600570
HGNC: 2020
Ensembl: ENSG00000114859

Variants:

dbSNP: 1181
ClinVar: 1181
TCGA: ENSG00000114859
COSMIC: CLCN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114859ENST00000265593P51788
ENSG00000114859ENST00000344937P51788
ENSG00000114859ENST00000430397H7C0Q8
ENSG00000114859ENST00000434054P51788
ENSG00000114859ENST00000457512P51788
ENSG00000114859ENST00000475279A0A1B0GTY0
ENSG00000114859ENST00000636180A0A1B0GV52
ENSG00000114859ENST00000636241A0A1B0GUY6
ENSG00000114859ENST00000636419A0A1B0GTJ3
ENSG00000114859ENST00000636492A0A1B0GUZ8
ENSG00000114859ENST00000636658A0A1B0GWC8
ENSG00000114859ENST00000636661A0A1B0GV52
ENSG00000114859ENST00000637538A0A1B0GVW7
ENSG00000114859ENST00000637909A0A1B0GVL9
ENSG00000114859ENST00000638134A0A1B0GVU4

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
128432582003Expression of voltage-gated chloride channels in human glioma cells.58
224052052012GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.40
118802692002Distribution of ClC-2 chloride channel in rat and human epithelial tissues.36
188018432008Gating of human ClC-2 chloride channels and regulation by carboxy-terminal domains.30
152521882004Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies.26
294030112018CLCN2 chloride channel mutations in familial hyperaldosteronism type II.24
294030122018A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.24
219561642012Chloride channel ClC-2 modulates tight junction barrier function via intracellular trafficking of occludin.22
191913392009Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.19
191913392009Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.19

Citation

Dessen P

CLCN2 (chloride voltage-gated channel 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53960/clcn2