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
376127552023Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.1
380694012023Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss.1
376127552023Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.1
380694012023Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss.1
359131992022A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis.2
359131992022A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis.2
338075682021Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree.4
338075682021Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree.4
318039592020Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome.2
318346042020Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3.8
318039592020Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome.2
318346042020Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3.8
311155722019A novel mutation associated with Type III Bartter syndrome: A report of five cases.4
314092962019A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report.3
311155722019A novel mutation associated with Type III Bartter syndrome: A report of five cases.4

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