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
383096392024KCNA2 IgG autoimmunity in neuropsychiatric diseases.1
383096392024KCNA2 IgG autoimmunity in neuropsychiatric diseases.1
378830182023Two epilepsy-associated variants in KCNA2 (K(V) 1.2) at position H310 oppositely affect channel functional expression.0
378830182023Two epilepsy-associated variants in KCNA2 (K(V) 1.2) at position H310 oppositely affect channel functional expression.0
354390542022An epilepsy-associated K(V)1.2 charge-transfer-center mutation impairs K(V)1.2 and K(V)1.4 trafficking.2
354390542022An epilepsy-associated K(V)1.2 charge-transfer-center mutation impairs K(V)1.2 and K(V)1.4 trafficking.2
335005712021Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.6
338022302021Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.16
335005712021Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.6
338022302021Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.16
321869322020Notch enhances Ca(2+) entry by activating calcium-sensing receptors and inhibiting voltage-gated K(+) channels.13
321869322020Notch enhances Ca(2+) entry by activating calcium-sensing receptors and inhibiting voltage-gated K(+) channels.13
300550402018De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.21
300550402018De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.21
270626092017Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.20

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/js/meetings/