ENSG00000157765


Homo sapiens

Features
Gene ID: ENSG00000157765
  
Biological name :SLC34A2
  
Synonyms : O95436 / SLC34A2 / solute carrier family 34 member 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: p15.2
Gene start: 25648011
Gene end: 25678748
  
Corresponding Affymetrix probe sets: 204124_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000423038
Ensembl peptide - ENSP00000494094
Ensembl peptide - ENSP00000425501
Ensembl peptide - ENSP00000424266
Ensembl peptide - ENSP00000371483
Ensembl peptide - ENSP00000423021
NCBI entrez gene - 10568     See in Manteia.
OMIM - 604217
RefSeq - NM_001177998
RefSeq - NM_001177999
RefSeq - NM_006424
RefSeq Peptide - NP_001171469
RefSeq Peptide - NP_006415
RefSeq Peptide - NP_001171470
swissprot - O95436
swissprot - D6RA94
swissprot - D6RBC0
Ensembl - ENSG00000157765
  
Related genetic diseases (OMIM): 265100 - Pulmonary alveolar microlithiasis, 265100
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
 slc34a2aENSDARG00000012903Danio rerio
 slc34a2bENSDARG00000036864Danio rerio
 SLC34A2ENSGALG00000014372Gallus gallus
 Q9DBP0ENSMUSG00000029188Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q06495 / SLC34A1 / solute carrier family 34 member 1ENSG0000013118351
Q8N130 / SLC34A3 / solute carrier family 34 member 3ENSG0000019856944


Protein motifs (from Interpro)
Interpro ID Name
 IPR003841  Sodium-dependent phosphate transport protein
 IPR029852  Sodium-dependent phosphate transport protein 2B


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0006817 phosphate ion transport IDA
 biological_processGO:0030643 cellular phosphate ion homeostasis IDA
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0043627 response to estrogen IEP
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0044341 sodium-dependent phosphate transport IEA
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane NAS
 cellular_componentGO:0005903 brush border IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0031526 brush border membrane ISS
 cellular_componentGO:0031982 vesicle HDA
 molecular_functionGO:0005436 sodium:phosphate symporter activity IDA
 molecular_functionGO:0015293 symporter activity IEA
 molecular_functionGO:0015321 sodium-dependent phosphate transmembrane transporter activity IEA
 molecular_functionGO:0031402 sodium ion binding IDA
 molecular_functionGO:0042301 phosphate ion binding IDA


Pathways (from Reactome)
Pathway description
Type II Na+/Pi cotransporters
Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)
Surfactant metabolism
Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)


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:0002111 Restrictive respiratory insufficiency 
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 HP:0003674 Age of onset 
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 HP:0003677 Slow progression 
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 HP:0006514 Intraalveolar nodular calcifications 
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 HP:0006520 Progressive pulmonary function impairment 
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 HP:0012215 Testicular microlithiasis "The deposition of calcium phosphate microliths within the seminiferous tubules." [HPO:probinson]
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 HP:0020034 Diffuse "A spatial pattern that is spread out, i.e., not localized." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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