help  | about  | cite  | software

Gene : KCNQ3 Homo sapiens

Name  ? potassium voltage-gated channel subfamily Q member 3 Cytological Location  8q24.22
Brief Description  potassium voltage-gated channel subfamily Q member 3
description  This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
  • synonyms:
  • BFNC2,
  • uc003ytj.4,
  • EBN2,
  • OTTHUMG00000137472,
  • AB208890,
  • KCNQ3,
  • potassium channel, voltage gated KQT-like subfamily Q, member 3,
  • HGNC:6297,
  • potassium voltage-gated channel, KQT-like subfamily, member 3,
  • EBN2,
  • NM_004519,
  • KV7.3,
  • Kv7.3
  • identifiers:
  • 3786,
  • ENSG00000184156,
  • KCNQ3

Genome feature

Region: gene ? Length: 359900  
Location: 8:132120858-132480757 reverse strand Cyto location: 8q24.22


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

206 SN Ps

5 Cross References

17 Data Sets

37 Homologues

0 Located Features

90 Rna Seq Results