KCNC2 (potassium voltage-gated channel subfamily C member 2)

2014-11-01  

Identity

HGNC
KCNC2
LOCATION
12q21.1
LOCUSID
3747
ALIAS
KV3.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3747
MIM: 176256
HGNC: 6234
Ensembl: ENSG00000166006

Variants:

dbSNP: 3747
ClinVar: 3747
TCGA: ENSG00000166006
COSMIC: KCNC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166006ENST00000298972Q96PR1
ENSG00000166006ENST00000298972A0A024RBE3
ENSG00000166006ENST00000350228Q96PR1
ENSG00000166006ENST00000393288Q96PR1
ENSG00000166006ENST00000540018Q96PR1
ENSG00000166006ENST00000548513Q96PR1
ENSG00000166006ENST00000548513A0A024RBE3
ENSG00000166006ENST00000549446Q96PR1
ENSG00000166006ENST00000549446A0A024RBA5
ENSG00000166006ENST00000550433Q96PR1
ENSG00000166006ENST00000550433A0A024RBF2
ENSG00000166006ENST00000647764A0A3B3ISR9

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
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356
Glucagon-like Peptide-1 (GLP1) regulates insulin secretionREACTOMER-HSA-381676

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
236289872014Kv3.1-containing K(+) channels are reduced in untreated schizophrenia and normalized with antipsychotic drugs.24
219129652012Brain expression of Kv3 subunits during development, adulthood and aging and in a murine model of Alzheimer's disease.12
193326192009Control of voltage-gated K+ channel permeability to NMDG+ by a residue at the outer pore.8
234758192013Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.8
276237492016An integrative study identifies KCNC2 as a novel predisposing factor for childhood obesity and the risk of diabetes in the Korean population.2

Citation

Dessen P

KCNC2 (potassium voltage-gated channel subfamily C member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64767/kcnc2