CLCNKB (chloride voltage-gated channel Kb)

2014-11-01  

Identity

HGNC
CLCNKB
LOCATION
1p36.13
LOCUSID
1188
ALIAS
CLCKB,ClC-K2,ClC-Kb
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1188
MIM: 602023
HGNC: 2027
Ensembl: ENSG00000184908

Variants:

dbSNP: 1188
ClinVar: 1188
TCGA: ENSG00000184908
COSMIC: CLCNKB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184908ENST00000375667P51801
ENSG00000184908ENST00000375679P51801
ENSG00000184908ENST00000431772Q5T5Q6
ENSG00000184908ENST00000619181A0A087X136

Expression (GTEx)

0
50
100
150
200
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
Collecting duct acid secretionKEGGko04966
Collecting duct acid secretionKEGGhsa04966
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
190960862009Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.31
124727652003A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.28
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
151482912004Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension.17
146750502004A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity.14

Citation

Dessen P

CLCNKB (chloride voltage-gated channel Kb)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61855/clcnkb