ENSG00000186335


Homo sapiens

Features
Gene ID: ENSG00000186335
  
Biological name :SLC36A2
  
Synonyms : Q495M3 / SLC36A2 / solute carrier family 36 member 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: q33.1
Gene start: 151314978
Gene end: 151347590
  
Corresponding Affymetrix probe sets:
  
Cross references: Ensembl peptide - ENSP00000428453
Ensembl peptide - ENSP00000430535
Ensembl peptide - ENSP00000430149
Ensembl peptide - ENSP00000428634
Ensembl peptide - ENSP00000334223
NCBI entrez gene - 153201     See in Manteia.
OMIM - 608331
RefSeq - XM_005268377
RefSeq - XM_017009084
RefSeq - XM_017009083
RefSeq - NM_181776
RefSeq - XM_006714756
RefSeq Peptide - NP_861441
swissprot - Q495M3
swissprot - E5RJJ5
swissprot - H0YB43
swissprot - E5RGH8
Ensembl - ENSG00000186335
  
Related genetic diseases (OMIM): 138500 - Hyperglycinuria, 138500
  242600 - Iminoglycinuria, digenic, 242600
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
 slc36a1ENSDARG00000075618Danio rerio
 ENSGALG00000038582Gallus gallus
 Q8BHK3ENSMUSG00000020264Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q7Z2H8 / SLC36A1 / solute carrier family 36 member 1ENSG0000012364368
Q495N2 / SLC36A3 / solute carrier family 36 member 3ENSG0000018633454
Q6YBV0 / SLC36A4 / solute carrier family 36 member 4ENSG0000018077347


Protein motifs (from Interpro)
Interpro ID Name
 IPR013057  Amino acid transporter, transmembrane domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport TAS
 biological_processGO:0006865 amino acid transport TAS
 biological_processGO:0015808 L-alanine transport IEA
 biological_processGO:0015816 glycine transport IEA
 biological_processGO:0015824 proline transport IEA
 biological_processGO:0035524 proline transmembrane transport IMP
 biological_processGO:1902600 proton transmembrane transport IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005774 vacuolar membrane IBA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005280 amino acid:proton symporter activity IEA
 molecular_functionGO:0015078 proton transmembrane transporter activity IBA
 molecular_functionGO:0015171 amino acid transmembrane transporter activity TAS
 molecular_functionGO:0015180 L-alanine transmembrane transporter activity IEA
 molecular_functionGO:0015187 glycine transmembrane transporter activity IEA
 molecular_functionGO:0015193 L-proline transmembrane transporter activity IEA


Pathways (from Reactome)
Pathway description
Amino acid transport across the plasma membrane
Proton-coupled neutral amino acid transporters
Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)


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: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:0000478 Abnormality of the eyes "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0003080 Hydroxyprolinuria 
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 HP:0003108 Hyperglycinuria 
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 HP:0003137 Prolinuria 
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 HP:0008672 Calcium oxalate nephrolithiasis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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