ENSG00000142949


Homo sapiens

Features
Gene ID: ENSG00000142949
  
Biological name :PTPRF
  
Synonyms : P10586 / protein tyrosine phosphatase, receptor type F / PTPRF
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p34.2
Gene start: 43525187
Gene end: 43623666
  
Corresponding Affymetrix probe sets: 200635_s_at (Human Genome U133 Plus 2.0 Array)   200636_s_at (Human Genome U133 Plus 2.0 Array)   200637_s_at (Human Genome U133 Plus 2.0 Array)   215066_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000416343
Ensembl peptide - ENSP00000413306
Ensembl peptide - ENSP00000483557
Ensembl peptide - ENSP00000353030
Ensembl peptide - ENSP00000361484
Ensembl peptide - ENSP00000391764
Ensembl peptide - ENSP00000398822
Ensembl peptide - ENSP00000408952
NCBI entrez gene - 5792     See in Manteia.
OMIM - 179590
RefSeq - XM_017001950
RefSeq - XM_017001942
RefSeq - XM_017001943
RefSeq - XM_017001944
RefSeq - XM_017001945
RefSeq - XM_017001946
RefSeq - XM_017001947
RefSeq - XM_017001948
RefSeq - XM_017001949
RefSeq - NM_002840
RefSeq - NM_130440
RefSeq - XM_005271079
RefSeq - XM_005271080
RefSeq - XM_005271081
RefSeq - XM_005271082
RefSeq - XM_006710795
RefSeq - XM_006710796
RefSeq - XM_006710797
RefSeq - XM_006710798
RefSeq - XM_006710799
RefSeq - XM_006710800
RefSeq - XM_006710801
RefSeq - XM_011541871
RefSeq - XM_011541872
RefSeq - XM_011541873
RefSeq Peptide - NP_002831
RefSeq Peptide - NP_569707
swissprot - H0Y6Z7
swissprot - H0Y7Z9
swissprot - H0Y380
swissprot - A2A437
swissprot - P10586
swissprot - H0Y4H1
Ensembl - ENSG00000142949
  
Related genetic diseases (OMIM): 616001 - ?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001
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
 A4IFW2ENSDARG00000005754Danio rerio
 ptprfaENSDARG00000103479Danio rerio
 PTPRFENSGALG00000010053Gallus gallus
 PtprfENSMUSG00000033295Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PTPRD / P23468 / protein tyrosine phosphatase, receptor type DENSG0000015370770
PTPRS / Q13332 / protein tyrosine phosphatase, receptor type SENSG0000010542668
P23471 / PTPRZ1 / protein tyrosine phosphatase, receptor type Z1ENSG0000010627822
PTPRM / P28827 / protein tyrosine phosphatase, receptor type MENSG0000017348222
PTPRK / Q15262 / protein tyrosine phosphatase, receptor type KENSG0000015289421
PTPRT / O14522 / protein tyrosine phosphatase, receptor type TENSG0000019609020
PTPRU / Q92729 / protein tyrosine phosphatase, receptor type UENSG0000006065620
PTPRG / P23470 / protein tyrosine phosphatase, receptor type GENSG0000014472419
PTPRA / P18433 / protein tyrosine phosphatase, receptor type AENSG0000013267019
PTPRC / protein tyrosine phosphatase, receptor type CENSG0000008123718
PTPRE / P23469 / protein tyrosine phosphatase, receptor type EENSG0000013233416


Protein motifs (from Interpro)
Interpro ID Name
 IPR000242  PTP type protein phosphatase
 IPR000387  Tyrosine specific protein phosphatases domain
 IPR003595  Protein-tyrosine phosphatase, catalytic
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR003961  Fibronectin type III
 IPR007110  Immunoglobulin-like domain
 IPR013098  Immunoglobulin I-set
 IPR013783  Immunoglobulin-like fold
 IPR016130  Protein-tyrosine phosphatase, active site
 IPR029021  Protein-tyrosine phosphatase-like
 IPR036116  Fibronectin type III superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006470 protein dephosphorylation IEA
 biological_processGO:0007155 cell adhesion TAS
 biological_processGO:0007185 transmembrane receptor protein tyrosine phosphatase signaling pathway TAS
 biological_processGO:0010975 regulation of neuron projection development IEA
 biological_processGO:0016311 dephosphorylation IEA
 biological_processGO:0016477 cell migration IMP
 biological_processGO:0031102 neuron projection regeneration IEA
 biological_processGO:0035335 peptidyl-tyrosine dephosphorylation IEA
 biological_processGO:0048679 regulation of axon regeneration IEA
 biological_processGO:1900121 negative regulation of receptor binding IMP
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004721 phosphoprotein phosphatase activity IEA
 molecular_functionGO:0004725 protein tyrosine phosphatase activity IEA
 molecular_functionGO:0005001 transmembrane receptor protein tyrosine phosphatase activity TAS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008201 heparin binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016791 phosphatase activity IEA
 molecular_functionGO:0035373 chondroitin sulfate proteoglycan binding IEA


Pathways (from Reactome)
Pathway description
Receptor-type tyrosine-protein phosphatases
Synaptic adhesion-like molecules


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:0000319 Flat philtrum 
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 HP:0000385 Hypoplastic ear lobes 
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 HP:0000455 Broad nasal tip 
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 HP:0002561 Absent nipples 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000110841 Q86W92 / PPFIBP1 / PPFIA binding protein 1  / complex / reaction
 ENSG00000131626 PPFIA1 / Q13136 / PTPRF interacting protein alpha 1  / complex / reaction
 ENSG00000166387 Q8ND30 / PPFIBP2 / PPFIA binding protein 2  / complex / reaction
 ENSG00000143847 O75335 / PPFIA4 / PTPRF interacting protein alpha 4  / reaction / complex
 ENSG00000173621 LRFN4 / Q6PJG9 / leucine rich repeat and fibronectin type III domain containing 4  / reaction / complex
 ENSG00000177380 O75145 / PPFIA3 / PTPRF interacting protein alpha 3  / reaction / complex
 ENSG00000139220 O75334 / PPFIA2 / PTPRF interacting protein alpha 2  / complex / reaction
 ENSG00000131409 LRRC4B / Q9NT99 / leucine rich repeat containing 4B  / reaction / complex






 

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