ENSG00000139304


Homo sapiens

Features
Gene ID: ENSG00000139304
  
Biological name :PTPRQ
  
Synonyms : protein tyrosine phosphatase, receptor type Q / PTPRQ
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q21.31
Gene start: 80402178
Gene end: 80680271
  
Corresponding Affymetrix probe sets:
  
Cross references: Ensembl peptide - ENSP00000449526
Ensembl peptide - ENSP00000495607
Ensembl peptide - ENSP00000483259
Ensembl peptide - ENSP00000482885
Ensembl peptide - ENSP00000447522
Ensembl peptide - ENSP00000448844
Ensembl peptide - ENSP00000449133
NCBI entrez gene - 374462     See in Manteia.
OMIM - 603317
RefSeq - NM_001145026
RefSeq - XM_017019273
RefSeq - XM_017019274
RefSeq - XM_017019275
RefSeq Peptide - NP_001138498
swissprot - H0YIJ5
swissprot - A0A087WZU1
swissprot - F8VW52
swissprot - F8VXI2
swissprot - F8W122
swissprot - A0A087X0B9
Ensembl - ENSG00000139304
  
Related genetic diseases (OMIM): 613391 - Deafness, autosomal recessive 84A, 613391
  617663 - Deafness, autosomal dominant 73, 617663
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
 ptprqENSDARG00000008849Danio rerio
 PTPRQENSGALG00000010935Gallus gallus
 PtprqENSMUSG00000035916Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PTPRB / P23467 / protein tyrosine phosphatase, receptor type BENSG0000012732918
PTPRJ / Q12913 / protein tyrosine phosphatase, receptor type JENSG0000014917714
PTPRH / Q9HD43 / protein tyrosine phosphatase, receptor type HENSG0000008003112
PTPRO / Q16827 / protein tyrosine phosphatase, receptor type OENSG0000015149011
PTPN9 / P43378 / protein tyrosine phosphatase, non-receptor type 9ENSG000001694106
PTPN20 / Q4JDL3 / protein tyrosine phosphatase, non-receptor type 20ENSG000002041795
PTPN18 / Q99952 / protein tyrosine phosphatase, non-receptor type 18ENSG000000721354
PTPN12 / Q05209 / protein tyrosine phosphatase, non-receptor type 12ENSG000001279474
PTPN22 / Q9Y2R2 / protein tyrosine phosphatase, non-receptor type 22ENSG000001342424
PTPN2 / P17706 / protein tyrosine phosphatase, non-receptor type 2ENSG000001753544
PTPN1 / P18031 / protein tyrosine phosphatase, non-receptor type 1ENSG000001963964


Protein motifs (from Interpro)
Interpro ID Name
 IPR000242  PTP type protein phosphatase
 IPR000387  Tyrosine specific protein phosphatases domain
 IPR003595  Protein-tyrosine phosphatase, catalytic
 IPR003961  Fibronectin type III
 IPR013783  Immunoglobulin-like fold
 IPR016130  Protein-tyrosine phosphatase, active site
 IPR029021  Protein-tyrosine phosphatase-like
 IPR036116  Fibronectin type III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002244 hematopoietic progenitor cell differentiation IEA
 biological_processGO:0006470 protein dephosphorylation IEA
 biological_processGO:0016311 dephosphorylation IEA
 biological_processGO:0035335 peptidyl-tyrosine dephosphorylation IEA
 biological_processGO:0042472 inner ear morphogenesis IEA
 biological_processGO:0050885 neuromuscular process controlling balance IEA
 biological_processGO:0050910 detection of mechanical stimulus involved in sensory perception of sound IEA
 biological_processGO:0060116 vestibular receptor cell morphogenesis IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032421 stereocilium bundle IEA
 molecular_functionGO:0004721 phosphoprotein phosphatase activity IEA
 molecular_functionGO:0004725 protein tyrosine phosphatase activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016791 phosphatase activity IEA


Pathways (from Reactome)
Pathway description
No match


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:0000365 Hearing loss 
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 HP:0001270 Motor retardation 
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 HP:0001751 Vestibular dysfunction 
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 HP:0003593 Early onset 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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