AutismKB 2.0

Annotation Details for SCN1B


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Basic Information Top
Gene Symbol:SCN1B ( GEFSP1 )
Gene Full Name: sodium channel, voltage-gated, type I, beta
Band: 19q13.11
Quick LinksEntrez ID:6324; OMIM: 600235; Uniprot ID:SCN1B_HUMAN; ENSEMBL ID: ENSG00000105711; HGNC ID: 10586
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001518IDA-voltage-gated sodium channel complex19808477
GO:0005576IEA-extracellular region-
GO:0005886TAS-plasma membrane-
GO:0014704ISS-intercalated disc-
GO:0030315ISS-T-tubule-
GO:0033268ISS-node of Ranvier-
GO ID Evidence Qualifier GO_term References
GO:0005248IDA-voltage-gated sodium channel activity19808477
GO:0005515IPI-protein binding26900580
GO:0017080IDA-sodium channel regulator activity18464934
GO:0019871ISS-sodium channel inhibitor activity17884088
GO:0086006IMP-voltage-gated sodium channel activity involved in cardiac muscle cell action potential19808477
GO:0086062IMP-voltage-gated sodium channel activity involved in Purkinje myocyte action potential18464934
GO ID Evidence Qualifier GO_term References
GO:0007155IEA-cell adhesion-
GO:0007268TAS-chemical synaptic transmission9697698
GO:0007411ISS-axon guidance-
GO:0010765IDA-positive regulation of sodium ion transport19808477
GO:0010976ISS-positive regulation of neuron projection development-
GO:0019227ISS-neuronal action potential propagation-
GO:0021966ISS-corticospinal neuron axon guidance-
GO:0035725IDA-sodium ion transmembrane transport18464934
GO:0040011ISS-locomotion-
GO:0046684IEA-response to pyrethroid-
GO:0051899IDA-membrane depolarization21051419
GO:0060048IMP-cardiac muscle contraction19808477
GO:0060078IEA-regulation of postsynaptic membrane potential-
GO:0060307ISS-regulation of ventricular cardiac muscle cell membrane repolarization17884088
GO:0060371IMP-regulation of atrial cardiac muscle cell membrane depolarization19808477
GO:0061337ISS-cardiac conduction-
GO:0061337TAS-cardiac conduction-
GO:0086002IMP-cardiac muscle cell action potential involved in contraction19808477
GO:0086012ISS-membrane depolarization during cardiac muscle cell action potential17884088
GO:0086047IMP-membrane depolarization during Purkinje myocyte cell action potential18464934
GO:0086091IMP-regulation of heart rate by cardiac conduction19808477
GO:2000649IDA-regulation of sodium ion transmembrane transporter activity19808477
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SCN1BCNTN111222914761957 Affinity Capture-Western
SCN1BCNTN110767214761957 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:98247
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-060503-604'