ENSG00000168356


Homo sapiens

Features
Gene ID: ENSG00000168356
  
Biological name :SCN11A
  
Synonyms : Q9UI33 / SCN11A / sodium voltage-gated channel alpha subunit 11
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: p22.2
Gene start: 38845769
Gene end: 38950561
  
Corresponding Affymetrix probe sets: 210853_at (Human Genome U133 Plus 2.0 Array)   220791_x_at (Human Genome U133 Plus 2.0 Array)   224029_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000307599
Ensembl peptide - ENSP00000408028
Ensembl peptide - ENSP00000416757
NCBI entrez gene - 11280     See in Manteia.
OMIM - 604385
RefSeq - XM_017005652
RefSeq - NM_001287223
RefSeq - NM_001349253
RefSeq - NM_014139
RefSeq - XM_017005648
RefSeq - XM_017005649
RefSeq - XM_017005650
RefSeq - XM_017005651
RefSeq - XM_011533321
RefSeq - XM_017005647
RefSeq Peptide - NP_001336182
RefSeq Peptide - NP_054858
RefSeq Peptide - NP_001274152
swissprot - Q9UI33
Ensembl - ENSG00000168356
  
Related genetic diseases (OMIM): 615548 - Neuropathy, hereditary sensory and autonomic, type VII, 615548
  615552 - Episodic pain syndrome, familial, 3, 615552
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
 SCN11AENSGALG00000027702Gallus gallus
 Q9R053ENSMUSG00000034115Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SCN5A / Q14524 / sodium voltage-gated channel alpha subunit 5ENSG0000018387354
Q9Y5Y9 / SCN10A / sodium voltage-gated channel alpha subunit 10ENSG0000018531353
SCN2A / Q99250 / sodium voltage-gated channel alpha subunit 2ENSG0000013653152
SCN3A / Q9NY46 / sodium voltage-gated channel alpha subunit 3ENSG0000015325352
SCN9A / Q15858 / sodium voltage-gated channel alpha subunit 9ENSG0000016943252
SCN1A / P35498 / sodium voltage-gated channel alpha subunit 1ENSG0000014428551
SCN8A / Q9UQD0 / sodium voltage-gated channel alpha subunit 8ENSG0000019687651
SCN4A / P35499 / sodium voltage-gated channel alpha subunit 4ENSG0000000731449
SCN7A / Q01118 / sodium voltage-gated channel alpha subunit 7ENSG0000013654638
O43497 / CACNA1G / calcium voltage-gated channel subunit alpha1 GENSG0000000628323
Q9P0X4 / CACNA1I / calcium voltage-gated channel subunit alpha1 IENSG0000010034623
O95180 / CACNA1H / calcium voltage-gated channel subunit alpha1 HENSG0000019655723


Protein motifs (from Interpro)
Interpro ID Name
 IPR001696  Voltage gated sodium channel, alpha subunit
 IPR005821  Ion transport domain
 IPR010526  Sodium ion transport-associated
 IPR028821  Voltage gated sodium channel, alpha-11 subunit


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport TAS
 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:0042493 response to drug TAS
 biological_processGO:0051930 regulation of sensory perception of pain ISS
 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:0005886 plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0044299 C-fiber IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005248 voltage-gated sodium channel activity TAS
 molecular_functionGO:0005272 sodium channel activity IEA


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:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [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:0001270 Motor retardation 
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0002014 Diarrhea 
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 HP:0002019 Constipation 
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 HP:0002459 Dysautonomia 
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 HP:0007021 Pain insensitivity, diffuse 
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 HP:0012531 Pain "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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