KCNA4 (potassium voltage-gated channel subfamily A member 4)

2012-03-01  

Identity

HGNC
KCNA4
LOCATION
11p14.1
LOCUSID
3739
ALIAS
HBK4,HK1,HPCN2,HUKII,KCNA4L,KCNA8,KV1.4,MCIDDS,PCN2

Other Information

Locus ID:

NCBI: 3739
MIM: 176266
HGNC: 6222
Ensembl: ENSG00000182255

Variants:

dbSNP: 3739
ClinVar: 3739
TCGA: ENSG00000182255
COSMIC: KCNA4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182255ENST00000328224P22459

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
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
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
171563682006Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.28
213073452011Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.16
225609312012K+ channel alterations in the progression of experimental autoimmune encephalomyelitis.13
159558062005A novel mechanism for the suppression of a voltage-gated potassium channel by glucose-dependent insulinotropic polypeptide: protein kinase A-dependent endocytosis.11
219450242011Hypermethylated DNA as potential biomarkers for gastric cancer diagnosis.11
120657632002Molecular determinants of intracellular pH modulation of human Kv1.4 N-type inactivation.9
151365672004Disinactivation of N-type inactivation of voltage-gated K channels by an erbstatin analogue.9
179597112008Ginsenoside Rg3 inhibits human Kv1.4 channel currents by interacting with the Lys531 residue.9
199618282010N-glycans modulate K(v)1.5 gating but have no effect on K(v)1.4 gating.9
186409872008Identification of an evolutionarily conserved extracellular threonine residue critical for surface expression and its potential coupling of adjacent voltage-sensing and gating domains in voltage-gated potassium channels.6

Citation

Dessen P

KCNA4 (potassium voltage-gated channel subfamily A member 4)

Atlas Genet Cytogenet Oncol Haematol. 2012-03-01

Online version: http://atlasgeneticsoncology.org/gene/52634/kcna4