KCNA2 (potassium voltage-gated channel subfamily A member 2)

2008-07-01  

Identity

HGNC
KCNA2
LOCATION
1p13.3
LOCUSID
3737
ALIAS
DEE32,EIEE32,HBK5,HK4,HUKIV,KV1.2,MK2,NGK1,RBK2

Other Information

Locus ID:

NCBI: 3737
MIM: 176262
HGNC: 6220
Ensembl: ENSG00000177301

Variants:

dbSNP: 3737
ClinVar: 3737
TCGA: ENSG00000177301
COSMIC: KCNA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177301ENST00000316361P16389
ENSG00000177301ENST00000369770P16389
ENSG00000177301ENST00000485317P16389
ENSG00000177301ENST00000633222P16389
ENSG00000177301ENST00000638477A0A1W2PP65
ENSG00000177301ENST00000638532P16389
ENSG00000177301ENST00000638616P16389
ENSG00000177301ENST00000639048A0A1W2PPM7
ENSG00000177301ENST00000639233A0A1W2PRY2
ENSG00000177301ENST00000640774A0A1W2PR01
ENSG00000177301ENST00000640956A0A1W2PPN8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
184748432008Clinical spectrum of voltage-gated potassium channel autoimmunity.60
257516272015De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.56
175767782007MK2 controls the level of negative feedback in the NF-kappaB pathway and is essential for vascular permeability and airway inflammation.36
152153092004Endocytosis as a mechanism for tyrosine kinase-dependent suppression of a voltage-gated potassium channel.33
247825442014Moving gating charges through the gating pore in a Kv channel voltage sensor.30
254771522015Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.22
179597822007An essential role for cortactin in the modulation of the potassium channel Kv1.2.21
210445652010Effect of sensor domain mutations on the properties of voltage-gated ion channels: molecular dynamics studies of the potassium channel Kv1.2.20
194036952009Dual roles for RHOA/RHO-kinase in the regulated trafficking of a voltage-sensitive potassium channel.17
219065952011Markedly reduced axonal potassium channel expression in human sporadic amyotrophic lateral sclerosis: an immunohistochemical study.15

Citation

Dessen P

KCNA2 (potassium voltage-gated channel subfamily A member 2)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50252/kcna2