help  | about  | cite  | software

Gene : SCN5A Homo sapiens

Name  ? sodium voltage-gated channel alpha subunit 5 Cytological Location  3p22.2
Brief Description  sodium voltage-gated channel alpha subunit 5
Description  The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
  • synonyms:
  • HB1,
  • HH1,
  • AJ310893,
  • HBBD,
  • HB2,
  • HH1,
  • CDCD2,
  • OTTHUMG00000156166,
  • Nav1.5,
  • CMPD2,
  • HB1,
  • long QT syndrome 3,
  • IVF,
  • ICCD,
  • SSS1,
  • uc062ihi.1,
  • SSS1,
  • LQT3,
  • CMD1E,
  • CMD1E,
  • PFHB1,
  • HGNC:10593,
  • CMPD2,
  • VF1,
  • LQT3,
  • ICCD,
  • PFHB1,
  • sodium channel, voltage gated, type V alpha subunit,
  • NM_198056,
  • HB2,
  • sodium channel, voltage-gated, type V, alpha (long QT syndrome 3),
  • IVF,
  • sodium channel, voltage-gated, type V, alpha subunit,
  • Nav1.5,
  • CDCD2,
  • SCN5A,
  • HBBD
  • identifiers:
  • 6331,
  • ENSG00000183873,
  • SCN5A

Genome feature

Region: gene ? Length: 101627  
Location: 3:38548061-38649687 reverse strand Cyto location: 3p22.2


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.

Gene -> HPO annotation (Human Phenotype Ontology)

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

8 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

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

532 SN Ps

5 Cross References

18 Data Sets

16 Homologues

0 Located Features

97 Rna Seq Results