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

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

2014-11-01 Affiliation

Identity

HGNC

LOCATION

19q13.33

LOCUSID

ALIAS

KSHIIID,KV3.3,SCA13

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000131398	ENST00000376959	E7ETH1
ENSG00000131398	ENST00000474951	E9PQY4
ENSG00000131398	ENST00000477616	Q14003
ENSG00000131398	ENST00000670667	A0A590UJ62

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

Pathway	Source	External ID
Neuronal System	REACTOME	R-HSA-112316
Potassium Channels	REACTOME	R-HSA-1296071
Voltage gated Potassium channels	REACTOME	R-HSA-1296072

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
29949095	2018	C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity.	2
29949095	2018	C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity.	2
28467418	2017	A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.	14
28467418	2017	A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.	14
26442672	2016	Kv3.3 potassium channels and spinocerebellar ataxia.	31
26849432	2016	Voltage-Gated K+ Channel, Kv3.3 Is Involved in Hemin-Induced K562 Differentiation.	2
26997484	2016	Kv3.3 Channels Bind Hax-1 and Arp2/3 to Assemble a Stable Local Actin Network that Regulates Channel Gating.	39
26442672	2016	Kv3.3 potassium channels and spinocerebellar ataxia.	31
26849432	2016	Voltage-Gated K+ Channel, Kv3.3 Is Involved in Hemin-Induced K562 Differentiation.	2
26997484	2016	Kv3.3 Channels Bind Hax-1 and Arp2/3 to Assemble a Stable Local Actin Network that Regulates Channel Gating.	39
25756792	2015	Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.	15
25981959	2015	De novo point mutations in patients diagnosed with ataxic cerebral palsy.	70
25756792	2015	Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.	15
25981959	2015	De novo point mutations in patients diagnosed with ataxic cerebral palsy.	70
25152487	2014	KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.	14

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/js/js/lib/zoomerang.js