ENSG00000066230


Homo sapiens

Features
Gene ID: ENSG00000066230
  
Biological name :SLC9A3
  
Synonyms : P48764 / SLC9A3 / solute carrier family 9 member A3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: p15.33
Gene start: 470458
Gene end: 524332
  
Corresponding Affymetrix probe sets: 207212_at (Human Genome U133 Plus 2.0 Array)   225457_s_at (Human Genome U133 Plus 2.0 Array)   225458_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000495903
Ensembl peptide - ENSP00000264938
Ensembl peptide - ENSP00000422983
NCBI entrez gene - 6550     See in Manteia.
OMIM - 182307
RefSeq - NM_001284351
RefSeq - NM_004174
swissprot - P48764
Ensembl - ENSG00000066230
  
Related genetic diseases (OMIM): 616868 - Diarrhea 8, secretory sodium, congenital, 616868
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
 slc9a3.1ENSDARG00000058498Danio rerio
 slc9a3.2ENSDARG00000036722Danio rerio
 SLC9A3ENSGALG00000039738Gallus gallus
 G3X939ENSMUSG00000036123Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q14940 / SLC9A5 / solute carrier family 9 member A5ENSG0000013574053
Q9UBY0 / SLC9A2 / solute carrier family 9 member A2ENSG0000011561637
P19634 / SLC9A1 / solute carrier family 9 member A1ENSG0000009002034
Q6AI14 / SLC9A4 / solute carrier family 9 member A4ENSG0000018025133
Q96T83 / SLC9A7 / solute carrier family 9 member A7ENSG0000006592318
Q8IVB4 / SLC9A9 / solute carrier family 9 member A9ENSG0000018180418
Q9Y2E8 / SLC9A8 / solute carrier family 9 member A8ENSG0000019781818
Q92581 / SLC9A6 / solute carrier family 9 member A6ENSG0000019868917


Protein motifs (from Interpro)
Interpro ID Name
 IPR004709  Na+/H+ exchanger
 IPR006153  Cation/H+ exchanger
 IPR018410  Na+/H+ exchanger, isoforms 3/5
 IPR018422  Cation/H+ exchanger, CPA1 family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport TAS
 biological_processGO:0006812 cation transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0006885 regulation of pH IEA
 biological_processGO:0051453 regulation of intracellular pH IBA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0071805 potassium ion transmembrane transport IBA
 biological_processGO:0098719 sodium ion import across plasma membrane IDA
 biological_processGO:1902600 proton transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005903 brush border ISS
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IBA
 cellular_componentGO:0031526 brush border membrane IBA
 cellular_componentGO:0031982 vesicle IEA
 cellular_componentGO:0070062 extracellular exosome IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015297 antiporter activity IEA
 molecular_functionGO:0015299 solute:proton antiporter activity IEA
 molecular_functionGO:0015385 sodium:proton antiporter activity TAS
 molecular_functionGO:0015386 potassium:proton antiporter activity IBA
 molecular_functionGO:0030165 PDZ domain binding ISS


Pathways (from Reactome)
Pathway description
Sodium/Proton exchangers


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:0001561 Polyhydramnios 
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 HP:0002037 Inflammatory bowel disease 
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 HP:0003270 Abdominal distention "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators]
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 HP:0005208 Congenital secretory diarrhea 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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