ENSG00000163817


Homo sapiens

Features
Gene ID: ENSG00000163817
  
Biological name :SLC6A20
  
Synonyms : Q9NP91 / SLC6A20 / solute carrier family 6 member 20
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: p21.31
Gene start: 45755450
Gene end: 45796535
  
Corresponding Affymetrix probe sets: 219614_s_at (Human Genome U133 Plus 2.0 Array)   234291_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000296133
Ensembl peptide - ENSP00000404310
Ensembl peptide - ENSP00000395506
Ensembl peptide - ENSP00000346298
NCBI entrez gene - 54716     See in Manteia.
OMIM - 605616
RefSeq - XM_011533847
RefSeq - XM_011533848
RefSeq - NM_020208
RefSeq - NM_022405
RefSeq Peptide - NP_064593
RefSeq Peptide - NP_071800
swissprot - Q9NP91
swissprot - C9JIN6
swissprot - B7ZLW4
Ensembl - ENSG00000163817
  
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
 SLC6A20ENSGALG00000039333Gallus gallus
 O88575ENSMUSG00000025243Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q96N87 / SLC6A18 / solute carrier family 6 member 18ENSG0000016436347
Q695T7 / SLC6A19 / solute carrier family 6 member 19ENSG0000017435846
Q9H2J7 / SLC6A15 / solute carrier family 6 member 15ENSG0000007204144
Q9H1V8 / SLC6A17 / solute carrier family 6 member 17ENSG0000019710642
Q9GZN6 / SLC6A16 / solute carrier family 6 member 16ENSG0000006312732


Protein motifs (from Interpro)
Interpro ID Name
 IPR000175  Sodium:neurotransmitter symporter
 IPR002438  Sodium:neurotransmitter symporter, orphan
 IPR037272  Sodium:neurotransmitter symporter superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006836 neurotransmitter transport IEA
 biological_processGO:0006865 amino acid transport TAS
 biological_processGO:0015816 glycine transport IMP
 biological_processGO:0015824 proline transport IMP
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane ISS
 cellular_componentGO:0031526 brush border membrane IEA
 molecular_functionGO:0005328 neurotransmitter:sodium symporter activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015171 amino acid transmembrane transporter activity IDA
 molecular_functionGO:0015293 symporter activity IEA


Pathways (from Reactome)
Pathway description
Amino acid transport across the plasma membrane
Na+/Cl- dependent neurotransmitter transporters
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)


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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