CLCN4 (chloride voltage-gated channel 4)

2007-04-01  

Identity

HGNC
CLCN4
LOCATION
Xp22.2
LOCUSID
1183
ALIAS
CLC4,ClC-4,ClC-4A,MRX15,MRX49,MRXSRC
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1183
MIM: 302910
HGNC: 2022
Ensembl: ENSG00000073464

Variants:

dbSNP: 1183
ClinVar: 1183
TCGA: ENSG00000073464
COSMIC: CLCN4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000073464ENST00000380829G3XAG5
ENSG00000073464ENST00000380833P51793
ENSG00000073464ENST00000421085P51793
ENSG00000073464ENST00000454850E9PFB5

Expression (GTEx)

0
10
20
30
40
50
60
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
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
160344212005Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5.170
236470722013Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.86
161762722005Crystal structure of the soluble form of the redox-regulated chloride ion channel protein CLIC4.39
193648862009Channel-like slippage modes in the human anion/proton exchanger ClC-4.30
170233932006The human ClC-4 protein, a member of the CLC chloride channel/transporter family, is localized to the endoplasmic reticulum by its N-terminus.16
213543962011Anion- and proton-dependent gating of ClC-4 anion/proton transporter under uncoupling conditions.16
105640871999Identification of an acid-activated Cl(-) channel from human skeletal muscles.10
195465912009Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.9
275508442018De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.9
150577542004Involvement of chloride channels in hepatic copper metabolism: ClC-4 promotes copper incorporation into ceruloplasmin.6

Citation

Dessen P

CLCN4 (chloride voltage-gated channel 4)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46770/clcn4