KCNC3 (potassium voltage-gated channel subfamily C member 3)

2014-11-01  

Identity

HGNC
KCNC3
LOCATION
19q13.33
LOCUSID
3748
ALIAS
KSHIIID,KV3.3,SCA13
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3748
MIM: 176264
HGNC: 6235
Ensembl: ENSG00000131398

Variants:

dbSNP: 3748
ClinVar: 3748
TCGA: ENSG00000131398
COSMIC: KCNC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131398ENST00000376959E7ETH1
ENSG00000131398ENST00000474951E9PQY4
ENSG00000131398ENST00000477616Q14003
ENSG00000131398ENST00000670667A0A590UJ62

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
165015732006Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.98
259819592015De novo point mutations in patients diagnosed with ataxic cerebral palsy.37
199536062010KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.34
214792652011Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).22
222899122012Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.21
151481512004Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.19
269974842016Kv3.3 Channels Bind Hax-1 and Arp2/3 to Assemble a Stable Local Actin Network that Regulates Channel Gating.18
215436132011Spinocerebellar ataxia type 13 mutant potassium channel alters neuronal excitability and causes locomotor deficits in zebrafish.13
241161472013Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.12
264426722016Kv3.3 potassium channels and spinocerebellar ataxia.11

Citation

Dessen P

KCNC3 (potassium voltage-gated channel subfamily C member 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64768/kcnc3