ENSG00000149575


Homo sapiens

Features
Gene ID: ENSG00000149575
  
Biological name :SCN2B
  
Synonyms : O60939 / SCN2B / sodium voltage-gated channel beta subunit 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q23.3
Gene start: 118161951
Gene end: 118176673
  
Corresponding Affymetrix probe sets: 210363_s_at (Human Genome U133 Plus 2.0 Array)   210364_at (Human Genome U133 Plus 2.0 Array)   235225_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000278947
NCBI entrez gene - 6327     See in Manteia.
OMIM - 601327
RefSeq - NM_004588
RefSeq Peptide - NP_004579
swissprot - O60939
swissprot - Q5U0K8
Ensembl - ENSG00000149575
  
Related genetic diseases (OMIM): 615378 - Atrial fibrillation, familial, 14, 615378
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
 scn2bENSDARG00000101713Danio rerio
 SCN2BENSGALG00000021272Gallus gallus
 Scn2bENSMUSG00000070304Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SCN4B / Q8IWT1 / sodium voltage-gated channel beta subunit 4ENSG0000017709827


Protein motifs (from Interpro)
Interpro ID Name
 IPR000920  Myelin P0 protein-related
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013106  Immunoglobulin V-set domain
 IPR013783  Immunoglobulin-like fold
 IPR021157  Cytochrome c1, transmembrane anchor, C-terminal
 IPR029873  Sodium channel subunit beta-2
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0007268 chemical synaptic transmission TAS
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035725 sodium ion transmembrane transport IDA
 biological_processGO:0046684 response to pyrethroid IEA
 biological_processGO:0060048 cardiac muscle contraction IMP
 biological_processGO:0060371 regulation of atrial cardiac muscle cell membrane depolarization IMP
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0086002 cardiac muscle cell action potential involved in contraction IMP
 biological_processGO:0086012 membrane depolarization during cardiac muscle cell action potential IMP
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IMP
 biological_processGO:2000649 regulation of sodium ion transmembrane transporter activity IDA
 cellular_componentGO:0001518 voltage-gated sodium channel complex IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005248 voltage-gated sodium channel activity IEA
 molecular_functionGO:0005272 sodium channel activity IEA
 molecular_functionGO:0017080 sodium channel regulator activity IDA
 molecular_functionGO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential IMP


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0004757 paroxysmal atrial fibrillation 
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 HP:0012248 Prolonged PR interval "Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex)." [HPO:probinson]
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 HP:0012251 ST segment elevation "An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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