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
353145052022Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.7
360874222022Investigation of novel de novo KCNC2 variants causing severe developmental and early-onset epileptic encephalopathy.1
353145052022Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.7
360874222022Investigation of novel de novo KCNC2 variants causing severe developmental and early-onset epileptic encephalopathy.1
344483382021A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.10
344483382021A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.10
317321082020Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder.22
317321082020Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder.22
276237492016An integrative study identifies KCNC2 as a novel predisposing factor for childhood obesity and the risk of diabetes in the Korean population.8
276237492016An integrative study identifies KCNC2 as a novel predisposing factor for childhood obesity and the risk of diabetes in the Korean population.8
236289872014Kv3.1-containing K(+) channels are reduced in untreated schizophrenia and normalized with antipsychotic drugs.39
236289872014Kv3.1-containing K(+) channels are reduced in untreated schizophrenia and normalized with antipsychotic drugs.39
234758192013Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.13
234758192013Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.13
219129652012Brain expression of Kv3 subunits during development, adulthood and aging and in a murine model of Alzheimer's disease.19

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-(potassium-voltage-gated-channel-subfamily-c-member-2)