ENSG00000153253


Homo sapiens

Features
Gene ID: ENSG00000153253
  
Biological name :SCN3A
  
Synonyms : Q9NY46 / SCN3A / sodium voltage-gated channel alpha subunit 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q24.3
Gene start: 165087522
Gene end: 165204067
  
Corresponding Affymetrix probe sets: 210432_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000386726
Ensembl peptide - ENSP00000353206
Ensembl peptide - ENSP00000391569
Ensembl peptide - ENSP00000492807
Ensembl peptide - ENSP00000492251
Ensembl peptide - ENSP00000491552
Ensembl peptide - ENSP00000403348
Ensembl peptide - ENSP00000283254
NCBI entrez gene - 6328     See in Manteia.
OMIM - 182391
RefSeq - XM_017004666
RefSeq - NM_006922
RefSeq - XM_011511610
RefSeq - XM_011511613
RefSeq - XM_017004660
RefSeq - XM_017004661
RefSeq - XM_017004662
RefSeq - XM_017004663
RefSeq - XM_017004664
RefSeq - XM_017004665
RefSeq - NM_001081676
RefSeq - NM_001081677
RefSeq Peptide - NP_001075146
RefSeq Peptide - NP_008853
RefSeq Peptide - NP_001075145
swissprot - A0A1W2PRD1
swissprot - E7EUE6
swissprot - Q9NY46
swissprot - A0A1W2PQ58
swissprot - C9JBM7
swissprot - A0A1W2PSB2
Ensembl - ENSG00000153253
  
Related genetic diseases (OMIM): 617935 - Epilepsy, familial focal, with variable foci 4, 617935
  617938 - Epileptic encephalopathy, early infantile, 62, 617938
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 scn1aENSDARG00000086819Danio rerio
 scn1labENSDARG00000062744Danio rerio
 SCN3AENSGALG00000011040Gallus gallus
 Scn3aENSMUSG00000057182Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SCN2A / Q99250 / sodium voltage-gated channel alpha subunit 2ENSG0000013653187
SCN1A / P35498 / sodium voltage-gated channel alpha subunit 1ENSG0000014428585
SCN9A / Q15858 / sodium voltage-gated channel alpha subunit 9ENSG0000016943276
SCN8A / Q9UQD0 / sodium voltage-gated channel alpha subunit 8ENSG0000019687675
SCN5A / Q14524 / sodium voltage-gated channel alpha subunit 5ENSG0000018387364
SCN4A / P35499 / sodium voltage-gated channel alpha subunit 4ENSG0000000731463
Q9Y5Y9 / SCN10A / sodium voltage-gated channel alpha subunit 10ENSG0000018531357
Q9UI33 / SCN11A / sodium voltage-gated channel alpha subunit 11ENSG0000016835646
SCN7A / Q01118 / sodium voltage-gated channel alpha subunit 7ENSG0000013654645
O95180 / CACNA1H / calcium voltage-gated channel subunit alpha1 HENSG0000019655725
O43497 / CACNA1G / calcium voltage-gated channel subunit alpha1 GENSG0000000628324
Q9P0X4 / CACNA1I / calcium voltage-gated channel subunit alpha1 IENSG0000010034623


Protein motifs (from Interpro)
Interpro ID Name
 IPR000048  IQ motif, EF-hand binding site
 IPR001696  Voltage gated sodium channel, alpha subunit
 IPR005821  Ion transport domain
 IPR010526  Sodium ion transport-associated
 IPR024583  Voltage-gated Na+ ion channel, cytoplasmic domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport NAS
 biological_processGO:0019228 neuronal action potential IBA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0086010 membrane depolarization during action potential IBA
 cellular_componentGO:0001518 voltage-gated sodium channel complex IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005248 voltage-gated sodium channel activity NAS
 molecular_functionGO:0005272 sodium channel activity IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Interaction between L1 and Ankyrins
Phase 0 - rapid depolarisation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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