KCNAB1 (potassium voltage-gated channel subfamily A regulatory beta subunit 1)

2014-11-01  

Identity

HGNC
KCNAB1
LOCATION
3q25.31
LOCUSID
7881
ALIAS
AKR6A3,KCNA1B,KV-BETA-1,Kvb1.3,hKvBeta3,hKvb3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7881
MIM: 601141
HGNC: 6228
Ensembl: ENSG00000169282

Variants:

dbSNP: 7881
ClinVar: 7881
TCGA: ENSG00000169282
COSMIC: KCNAB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169282ENST00000302490Q14722
ENSG00000169282ENST00000389634F8W6W4
ENSG00000169282ENST00000389636B7Z8E5
ENSG00000169282ENST00000471742Q14722
ENSG00000169282ENST00000472028C9JBV8
ENSG00000169282ENST00000475456C9JQ60
ENSG00000169282ENST00000489036H7C4S9
ENSG00000169282ENST00000490337Q14722
ENSG00000169282ENST00000618897A0A087X1P8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Voltage gated Potassium channelsREACTOMER-HSA-1296072

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
179135862007Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.58
189876372008Structural determinants of Kvbeta1.3-induced channel inactivation: a hairpin modulated by PIP2.19
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
249515432014Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.11
213335002011Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy.3
249461042014PKC inhibition results in a Kv 1.5 + Kv β1.3 pharmacology closer to Kv 1.5 channels.1

Citation

Dessen P

KCNAB1 (potassium voltage-gated channel subfamily A regulatory beta subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64759/kcnab1