ENSG00000152104


Homo sapiens

Features
Gene ID: ENSG00000152104
  
Biological name :PTPN14
  
Synonyms : protein tyrosine phosphatase, non-receptor type 14 / PTPN14 / Q15678
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q41
Gene start: 214348696
Gene end: 214552449
  
Corresponding Affymetrix probe sets: 205503_at (Human Genome U133 Plus 2.0 Array)   226282_at (Human Genome U133 Plus 2.0 Array)   242321_at (Human Genome U133 Plus 2.0 Array)   244533_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000355923
Ensembl peptide - ENSP00000443330
NCBI entrez gene - 5784     See in Manteia.
OMIM - 603155
RefSeq - NM_005401
RefSeq - XM_017001941
RefSeq Peptide - NP_005392
swissprot - E2J9M0
swissprot - Q15678
Ensembl - ENSG00000152104
  
Related genetic diseases (OMIM): 613611 - ?Choanal atresia and lymphedema, 613611
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
 PTPN14ENSGALG00000009784Gallus gallus
 Ptpn14ENSMUSG00000026604Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PTPN21 / Q16825 / protein tyrosine phosphatase, non-receptor type 21ENSG0000007077855
PTPN13 / Q12923 / protein tyrosine phosphatase, non-receptor type 13ENSG0000016362926
FRMPD2 / Q68DX3 / FERM and PDZ domain containing 2ENSG0000017032413
FRMD6 / Q96NE9 / FERM domain containing 6ENSG000001399269
FRMD1 / Q8N878 / FERM domain containing 1ENSG000001533037


Protein motifs (from Interpro)
Interpro ID Name
 IPR000242  PTP type protein phosphatase
 IPR000299  FERM domain
 IPR000387  Tyrosine specific protein phosphatases domain
 IPR003595  Protein-tyrosine phosphatase, catalytic
 IPR011993  PH-like domain superfamily
 IPR014352  FERM/acyl-CoA-binding protein superfamily
 IPR014392  Protein-tyrosine phosphatase, non-receptor type-14, -21
 IPR016130  Protein-tyrosine phosphatase, active site
 IPR018979  FERM, N-terminal
 IPR018980  FERM, C-terminal PH-like domain
 IPR019747  FERM conserved site
 IPR019748  FERM central domain
 IPR019749  Band 4.1 domain
 IPR029021  Protein-tyrosine phosphatase-like
 IPR029071  Ubiquitin-like domain superfamily
 IPR035963  FERM superfamily, second domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001946 lymphangiogenesis IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006470 protein dephosphorylation IEA
 biological_processGO:0008285 negative regulation of cell proliferation IMP
 biological_processGO:0016311 dephosphorylation IEA
 biological_processGO:0035335 peptidyl-tyrosine dephosphorylation IEA
 biological_processGO:0046825 regulation of protein export from nucleus IDA
 biological_processGO:0071345 cellular response to cytokine stimulus TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 molecular_functionGO:0003712 transcription coregulator activity IMP
 molecular_functionGO:0004721 phosphoprotein phosphatase activity IEA
 molecular_functionGO:0004725 protein tyrosine phosphatase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016791 phosphatase activity IEA
 molecular_functionGO:0030971 receptor tyrosine kinase binding IPI


Pathways (from Reactome)
Pathway description
Interleukin-37 signaling


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:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 HP:0000453 Choanal atresia "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators]
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 HP:0001004 Lymphedema 
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 HP:0001698 Pericardial effusion 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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