ENSG00000185313


Homo sapiens

Features
Gene ID: ENSG00000185313
  
Biological name :SCN10A
  
Synonyms : Q9Y5Y9 / SCN10A / sodium voltage-gated channel alpha subunit 10
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: p22.2
Gene start: 38696807
Gene end: 38816217
  
Corresponding Affymetrix probe sets: 208578_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000390600
Ensembl peptide - ENSP00000494789
Ensembl peptide - ENSP00000495595
Ensembl peptide - ENSP00000496110
NCBI entrez gene - 6336     See in Manteia.
OMIM - 604427
RefSeq - XM_011533994
RefSeq - NM_001293306
RefSeq - NM_001293307
RefSeq - NM_006514
RefSeq - XM_005265371
RefSeq - XM_011533993
RefSeq Peptide - NP_001280235
RefSeq Peptide - NP_001280236
RefSeq Peptide - NP_006505
swissprot - Q9Y5Y9
Ensembl - ENSG00000185313
  
Related genetic diseases (OMIM): 615551 - Episodic pain syndrome, familial, 2, 615551
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
 scn12aaENSDARG00000090724Danio rerio
 scn12abENSDARG00000102312Danio rerio
 Q6QIY3ENSMUSG00000034533Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SCN5A / Q14524 / sodium voltage-gated channel alpha subunit 5ENSG0000018387363
SCN2A / Q99250 / sodium voltage-gated channel alpha subunit 2ENSG0000013653158
SCN1A / P35498 / sodium voltage-gated channel alpha subunit 1ENSG0000014428558
SCN3A / Q9NY46 / sodium voltage-gated channel alpha subunit 3ENSG0000015325358
SCN9A / Q15858 / sodium voltage-gated channel alpha subunit 9ENSG0000016943257
SCN8A / Q9UQD0 / sodium voltage-gated channel alpha subunit 8ENSG0000019687657
SCN4A / P35499 / sodium voltage-gated channel alpha subunit 4ENSG0000000731454
Q9UI33 / SCN11A / sodium voltage-gated channel alpha subunit 11ENSG0000016835649
SCN7A / Q01118 / sodium voltage-gated channel alpha subunit 7ENSG0000013654638
O95180 / CACNA1H / calcium voltage-gated channel subunit alpha1 HENSG0000019655724
O43497 / CACNA1G / calcium voltage-gated channel subunit alpha1 GENSG0000000628322
Q9P0X4 / CACNA1I / calcium voltage-gated channel subunit alpha1 IENSG0000010034622


Protein motifs (from Interpro)
Interpro ID Name
 IPR001696  Voltage gated sodium channel, alpha subunit
 IPR005821  Ion transport domain
 IPR010526  Sodium ion transport-associated
 IPR028809  Voltage gated sodium channel, alpha-10 subunit


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002027 regulation of heart rate IMP
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0007600 sensory perception TAS
 biological_processGO:0019228 neuronal action potential IBA
 biological_processGO:0019233 sensory perception of pain IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IDA
 biological_processGO:0035725 sodium ion transmembrane transport IDA
 biological_processGO:0042475 odontogenesis of dentin-containing tooth IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0055117 regulation of cardiac muscle contraction IMP
 biological_processGO:0060371 regulation of atrial cardiac muscle cell membrane depolarization IMP
 biological_processGO:0086010 membrane depolarization during action potential IBA
 biological_processGO:0086016 AV node cell action potential IMP
 biological_processGO:0086043 bundle of His cell action potential IMP
 cellular_componentGO:0001518 voltage-gated sodium channel complex IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071439 clathrin complex 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 IEA
 molecular_functionGO:0005272 sodium channel activity IEA
 molecular_functionGO:0044325 ion channel binding IPI


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:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0002019 Constipation 
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 HP:0003581 Onset in adulthood 
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 HP:0031005 Hyperalgesia "Abnormally increased sensitivity to pain." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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