ENSG00000109667


Homo sapiens

Features
Gene ID: ENSG00000109667
  
Biological name :SLC2A9
  
Synonyms : Q9NRM0 / SLC2A9 / solute carrier family 2 member 9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: p16.1
Gene start: 9771153
Gene end: 10054936
  
Corresponding Affymetrix probe sets: 219991_at (Human Genome U133 Plus 2.0 Array)   236101_at (Human Genome U133 Plus 2.0 Array)   240223_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000426800
Ensembl peptide - ENSP00000264784
Ensembl peptide - ENSP00000311383
Ensembl peptide - ENSP00000422209
NCBI entrez gene - 56606     See in Manteia.
OMIM - 606142
RefSeq - XM_017008460
RefSeq - NM_001001290
RefSeq - NM_020041
RefSeq - XM_011513866
RefSeq - XM_011513868
RefSeq - XM_017008457
RefSeq - XM_017008458
RefSeq - XM_006713968
RefSeq - XM_006713969
RefSeq - XM_011513856
RefSeq - XM_011513857
RefSeq - XM_011513858
RefSeq - XM_011513859
RefSeq - XM_011513860
RefSeq - XM_011513861
RefSeq - XM_011513862
RefSeq - XM_011513865
RefSeq Peptide - NP_001001290
RefSeq Peptide - NP_064425
swissprot - Q9NRM0
swissprot - D6REK5
Ensembl - ENSG00000109667
  
Related genetic diseases (OMIM): 612076 - Hypouricemia, renal, 2, 612076
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
 CABZ01086812.1ENSDARG00000117001Danio rerio
 SLC2A9ENSGALG00000014971Gallus gallus
 Slc2a9ENSMUSG00000005107Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P22732 / SLC2A5 / solute carrier family 2 member 5ENSG0000014258341
Q6PXP3 / SLC2A7 / solute carrier family 2 member 7ENSG0000019724140
P14672 / SLC2A4 / solute carrier family 2 member 4ENSG0000018185634
P11166 / SLC2A1 / solute carrier family 2 member 1ENSG0000011739434
Q8TDB8 / SLC2A14 / solute carrier family 2 member 14ENSG0000017326233
Q9BYW1 / SLC2A11 / solute carrier family 2 member 11ENSG0000013346033
P11169 / SLC2A3 / solute carrier family 2 member 3ENSG0000005980432
P11168 / SLC2A2 / solute carrier family 2 member 2ENSG0000016358128


Protein motifs (from Interpro)
Interpro ID Name
 IPR003663  Sugar/inositol transporter
 IPR005828  Major facilitator, sugar transporter-like
 IPR005829  Sugar transporter, conserved site
 IPR020846  Major facilitator superfamily domain
 IPR036259  MFS transporter superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008643 carbohydrate transport IEA
 biological_processGO:0008645 hexose transmembrane transport TAS
 biological_processGO:0015747 urate transport IEA
 biological_processGO:0046415 urate metabolic process IMP
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:1902600 proton transmembrane transport IEA
 biological_processGO:1904659 glucose transmembrane transport NAS
 cellular_componentGO:0005635 nuclear envelope 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 NAS
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 molecular_functionGO:0005215 transporter activity IEA
 molecular_functionGO:0005351 carbohydrate:proton symporter activity NAS
 molecular_functionGO:0005355 glucose transmembrane transporter activity IEA
 molecular_functionGO:0015143 urate transmembrane transporter activity IDA
 molecular_functionGO:0022857 transmembrane transporter activity TAS


Pathways (from Reactome)
Pathway description
Cellular hexose transport
Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)


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:0000787 Kidney stones 
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 HP:0003537 Hypouricemia "An abnormally low level of uric acid in the blood." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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