Identity
HGNC
LOCATION
19q13.33
LOCUSID
ALIAS
KSHIIID,KV3.3,SCA13
FUSION GENES
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)
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)
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/kcnc3-(potassium-voltage-gated-channel-subfamily-c-member-3)
