KCNAB3 (potassium voltage-gated channel subfamily A regulatory beta subunit 3)
2014-11-01 Affiliation
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: 9196
MIM: 604111
HGNC: 6230
Ensembl: ENSG00000170049
Variants:
dbSNP: 9196
ClinVar: 9196
TCGA: ENSG00000170049
COSMIC: KCNAB3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000170049 | ENST00000303790 | O43448 |
| ENSG00000170049 | ENST00000570587 | I3L0P1 |
| ENSG00000170049 | ENST00000570852 | I3L4I8 |
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 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32990398 | 2020 | H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus. | 4 |
| 32990398 | 2020 | H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus. | 4 |
Citation
Dessen P
KCNAB3 (potassium voltage-gated channel subfamily A regulatory beta subunit 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64763/kcnab3-(potassium-voltage-gated-channel-subfamily-a-regulatory-beta-subunit-3)
