CLCN2 (chloride voltage-gated channel 2)

2014-06-01  

Identity

HGNC
CLCN2
LOCATION
3q27.1
LOCUSID
1181
ALIAS
CIC-2,CLC2,ECA2,ECA3,EGI11,EGI3,EGMA,EJM6,EJM8,HALD2,LKPAT,clC-2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
369647852023Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.3
369647852023Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.3
335650322021Functional Analysis and Clinical Significance of Chloride Channel 2 Expression in Esophageal Squamous Cell Carcinoma.4
340707442021Regulation of ClC-2 Chloride Channel Proteostasis by Molecular Chaperones: Correction of Leukodystrophy-Associated Defect.0
341483082021Can Unlikely Neanderthal Chloride Channel CLC-2 Gene Variants Provide Insights in Modern Human Infertility?0
335650322021Functional Analysis and Clinical Significance of Chloride Channel 2 Expression in Esophageal Squamous Cell Carcinoma.4
340707442021Regulation of ClC-2 Chloride Channel Proteostasis by Molecular Chaperones: Correction of Leukodystrophy-Associated Defect.0
341483082021Can Unlikely Neanderthal Chloride Channel CLC-2 Gene Variants Provide Insights in Modern Human Infertility?0
319967652020A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation.7
324664892020CUL4-DDB1-CRBN E3 Ubiquitin Ligase Regulates Proteostasis of ClC-2 Chloride Channels: Implication for Aldosteronism and Leukodystrophy.6
319967652020A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation.7
324664892020CUL4-DDB1-CRBN E3 Ubiquitin Ligase Regulates Proteostasis of ClC-2 Chloride Channels: Implication for Aldosteronism and Leukodystrophy.6
310545172019De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.4
310545172019De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.4
294030112018CLCN2 chloride channel mutations in familial hyperaldosteronism type II.89

Citation

Dessen P

CLCN2 (chloride voltage-gated channel 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

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