ENSG00000125255


Homo sapiens

Features
Gene ID: ENSG00000125255
  
Biological name :SLC10A2
  
Synonyms : Q12908 / SLC10A2 / solute carrier family 10 member 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: -1
Band: q33.1
Gene start: 103043998
Gene end: 103066846
  
Corresponding Affymetrix probe sets: 207095_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000245312
NCBI entrez gene - 6555     See in Manteia.
OMIM - 601295
RefSeq - NM_000452
RefSeq Peptide - NP_000443
swissprot - Q12908
Ensembl - ENSG00000125255
  
Related genetic diseases (OMIM): 613291 - Bile acid malabsorption, primary, 613291
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
 slc10a2ENSDARG00000014916Danio rerio
 SLC10A2ENSGALG00000016858Gallus gallus
 P70172ENSMUSG00000023073Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q3KNW5 / SLC10A6 / solute carrier family 10 member 6ENSG0000014528345
Q14973 / SLC10A1 / solute carrier family 10 member 1ENSG0000010065234
Q96EP9 / SLC10A4 / solute carrier family 10 member 4ENSG0000014524833
Q5PT55 / SLC10A5 / solute carrier family 10 member 5ENSG0000025359825
P09131 / SLC10A3 / solute carrier family 10 member 3ENSG0000012690321


Protein motifs (from Interpro)
Interpro ID Name
 IPR002657  Bile acid:sodium symporter/arsenical resistance protein Acr3
 IPR004710  Bile acid:sodium symporter
 IPR030207  Solute carrier family 10 member 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0015721 bile acid and bile salt transport TAS
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0005902 microvillus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 molecular_functionGO:0008508 bile acid:sodium symporter activity TAS
 molecular_functionGO:0015293 symporter activity IEA


Pathways (from Reactome)
Pathway description
Recycling of bile acids and salts


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001510 Growth retardation 
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 HP:0002028 Chronic diarrhea 
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 HP:0002570 Steatorrhea 
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 HP:0003593 Early onset 
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 HP:0003828 Variable expressivity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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