ENSG00000140675


Homo sapiens

Features
Gene ID: ENSG00000140675
  
Biological name :SLC5A2
  
Synonyms : P31639 / SLC5A2 / solute carrier family 5 member 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: p11.2
Gene start: 31483002
Gene end: 31490860
  
Corresponding Affymetrix probe sets: 207771_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000327943
Ensembl peptide - ENSP00000410601
Ensembl peptide - ENSP00000455143
NCBI entrez gene - 6524     See in Manteia.
OMIM - 182381
RefSeq - XM_006721072
RefSeq - NM_003041
RefSeq Peptide - NP_003032
swissprot - P31639
swissprot - H3BP44
Ensembl - ENSG00000140675
  
Related genetic diseases (OMIM): 233100 - Renal glucosuria, 233100
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
 slc5a2ENSDARG00000100919Danio rerio
 Q923I7ENSMUSG00000030781Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P13866 / SLC5A1 / solute carrier family 5 member 1ENSG0000010017057
Q9NY91 / SLC5A4 / solute carrier family 5 member 4ENSG0000010019154
Q2M3M2 / SLC5A9 / solute carrier family 5 member 9ENSG0000011783453
Q8WWX8 / SLC5A11 / solute carrier family 5 member 11ENSG0000015886550
A0PJK1 / SLC5A10 / solute carrier family 5 member 10ENSG0000015402549
P53794 / SLC5A3 / solute carrier family 5 member 3ENSG0000019874345
Q1EHB4 / SLC5A12 / solute carrier family 5 member 12ENSG0000014894220
Q92911 / SLC5A5 / solute carrier family 5 member 5ENSG0000010564120
Q9Y289 / SLC5A6 / solute carrier family 5 member 6ENSG0000013807418
Q8N695 / SLC5A8 / solute carrier family 5 member 8ENSG0000025687018


Protein motifs (from Interpro)
Interpro ID Name
 IPR001734  Sodium/solute symporter
 IPR018212  Sodium/solute symporter, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process TAS
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0008643 carbohydrate transport IEA
 biological_processGO:0008645 hexose transmembrane transport TAS
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:1904659 glucose transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005362 low-affinity glucose:sodium symporter activity TAS
 molecular_functionGO:0005412 glucose:sodium symporter activity TAS
 molecular_functionGO:0015293 symporter activity IEA
 molecular_functionGO:0022857 transmembrane transporter activity IEA


Pathways (from Reactome)
Pathway description
Cellular hexose transport
Defective SLC5A2 causes renal glucosuria (GLYS1)


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]
Show

 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]
Show

 HP:0000103 Polyuria 
Show

 HP:0001959 Polydipsia 
Show

 HP:0002591 Polyphagia 
Show

 HP:0003076 Glycosuria "The excretion of abnormal amounts of glucose in the urine, generally resulting in osmotic diuresis." [HPO:curators]
Show

 HP:0003828 Variable expressivity 
Show

 HP:0010677 Enuresis nocturna "`Enuresis` (HP:0000805) occuring during sleeping hours." [HPO:sdoelken]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr