CLCNKA (chloride voltage-gated channel Ka)

2003-06-01  

Identity

HGNC
CLCNKA
LOCATION
1p36.13
LOCUSID
1187
ALIAS
CLCK1,ClC-K1,hClC-Ka

Other Information

Locus ID:

NCBI: 1187
MIM: 602024
HGNC: 2026
Ensembl: ENSG00000186510

Variants:

dbSNP: 1187
ClinVar: 1187
TCGA: ENSG00000186510
COSMIC: CLCNKA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186510ENST00000331433P51800
ENSG00000186510ENST00000375692P51800
ENSG00000186510ENST00000439316P51800

Expression (GTEx)

0
50
100
150
200
250
300
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA134911659BSNDGenePathwayassociated23788015

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
150446422004Salt wasting and deafness resulting from mutations in two chloride channels.55
168494302006Barttin modulates trafficking and function of ClC-K channels.49
175623182007The structure of the cytoplasmic domain of the chloride channel ClC-Ka reveals a conserved interaction interface.41
180947262008Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.27
208055762010A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels.23
175102122007Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension.20
175102122007Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension.20
212482282011Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation.16
186484992008A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membrane.11

Citation

Dessen P

CLCNKA (chloride voltage-gated channel Ka)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40098/clcnka