AutismKB 2.0

Annotation Details for SCN8A


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Basic Information Top
Gene Symbol:SCN8A ( CERIII,MED,NaCh6,Nav1.6,PN4 )
Gene Full Name: sodium channel, voltage gated, type VIII, alpha subunit
Band: 12q13.13
Quick LinksEntrez ID:6334; OMIM: 600702; Uniprot ID:SCN8A_HUMAN; ENSEMBL ID: ENSG00000196876; HGNC ID: 10596
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001518IC-voltage-gated sodium channel complex9828131
GO:0005886IBA-plasma membrane-
GO:0016021TAS-integral component of membrane9828131
GO:0030018ISS-Z disc-
GO:0031410IEA-cytoplasmic vesicle-
GO:0033268ISS-node of Ranvier-
GO:0043194ISS-axon initial segment-
GO ID Evidence Qualifier GO_term References
GO:0005248IDA-voltage-gated sodium channel activity21078353
GO:0005248IMP-voltage-gated sodium channel activity25725044
GO:0005248NAS-voltage-gated sodium channel activity9828131
GO:0005515IPI-protein binding26900580
GO:0005524IEA-ATP binding-
GO ID Evidence Qualifier GO_term References
GO:0006814NAS-sodium ion transport9828131
GO:0007399TAS-nervous system development9828131
GO:0007422ISS-peripheral nervous system development-
GO:0019228IBA-neuronal action potential-
GO:0034765IEA-regulation of ion transmembrane transport-
GO:0035725IEA-sodium ion transmembrane transport-
GO:0042552ISS-myelination-
GO:0060078IEA-regulation of postsynaptic membrane potential-
GO:0086010IBA-membrane depolarization during action potential-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:103169
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-000828-1'