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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. SCN4A, Sodium channel, voltage-gated, type IV, alpha subunit
Sequence ID:NM_000334
RefSeqGene ID:NG_011699
Entrez Gene ID:6329
Ensembl ID:ENSG00000007314

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2KCNE3
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1CACNA1S
KCNE3
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 
MYASTHENIC SYNDROME, ACETAZOLAMIDE-RESPONSIVE 
MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE 
PARAMYOTONIACONGENITA 

Cytogenetic Location (from UniGene)

Cytogenetic Location:17q23.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:17: 62018088 - 62050201

 Exon Info From UCSC:
NM_000334

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
100069069Full LengthBC172375sodium channel, voltage-gated, type IV, alpha subunit

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000334 NP_000325 P35499  

Related Sequences

 
mRNAGenPeptSwissProt
M81758 AAA60554 P35499
BC172375 AAI72375 P35499
AY212253 AAO83647 P35499

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens SCN4A NP_000325 R.norvegicus Scn4a 25722   NP_037310 93
M.musculus Scn4a 110880 Gene Info NP_573462 93
A.gambiae AgaP_AGAP004707 1278521   XP_001689103 53
D.melanogaster para 32619   NP_001188623 53

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)