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PTPRT protein tyrosine phosphatase receptor type T [ Homo sapiens (human) ]

Gene ID: 11122, updated on 14-Nov-2024

Summary

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Official Symbol
PTPRTprovided by HGNC
Official Full Name
protein tyrosine phosphatase receptor type Tprovided by HGNC
Primary source
HGNC:HGNC:9682
See related
Ensembl:ENSG00000196090 MIM:608712; AllianceGenome:HGNC:9682
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
R-PTP-T; RPTPrho; RPTP-rho
Summary
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 9.9) and placenta (RPKM 1.1) See more
Orthologs
mouse all
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Genomic context

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See PTPRT in Genome Data Viewer
Location:
20q12-q13.11
Exon count:
36
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (42031890..43189906, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (43763752..44923941, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (40701396..41818546, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:40627259-40627760 Neighboring gene uncharacterized LOC105372622 Neighboring gene MPRA-validated peak4218 silencer Neighboring gene NEFH pseudogene 2 Neighboring gene MPRA-validated peak4219 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:40834580-40835212 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:40937504-40938187 Neighboring gene uncharacterized LOC105372624 Neighboring gene uncharacterized LOC101927159 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:41379572-41380771 Neighboring gene uncharacterized LOC124904981 Neighboring gene uncharacterized LOC105372623 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:41614665-41615864 Neighboring gene PTPRT antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:41733081-41733580 Neighboring gene RN7SK pseudogene 100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:41804429-41805039 Neighboring gene RNA, 7SL, cytoplasmic 666, pseudogene Neighboring gene PTPRT divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mutational analysis of the tyrosine phosphatome in colorectal cancers. Wang Z, et al. Science, 2004 May 21. PMID 15155950
  2. Structural stability of human protein tyrosine phosphatase ρ catalytic domain: effect of point mutations. Pasquo A, et al. PLoS One, 2012. PMID 22389709, Free PMC Article
  3. Tumour suppressor function of protein tyrosine phosphatase receptor-T. Scott A, et al. Biosci Rep, 2011 Oct. PMID 21517784, Free PMC Article
  4. Single cell genotyping of exome sequencing-identified mutations to characterize the clonal composition and evolution of inv(16) AML in a CBL mutated clonal hematopoiesis. Niemöller C, et al. Leuk Res, 2016 Aug. PMID 27244256
  5. Mutational analysis of PTPRT phosphatase domains in common human cancers. Lee JW, et al. APMIS, 2007 Jan. PMID 17223850

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Downregulation of PTPRT elevates the expression of survivin and promotes the proliferation, migration, and invasion of lung adenocarcinoma.
    Title: Downregulation of PTPRT elevates the expression of survivin and promotes the proliferation, migration, and invasion of lung adenocarcinoma.
  2. Novel genetic variants linked to prelabor rupture of membranes among Chinese pregnant women.
    Title: Novel genetic variants linked to prelabor rupture of membranes among Chinese pregnant women.
  3. Association of PTPRT Mutations with Cancer Metastasis in Multiple Cancer Types.
    Title: Association of PTPRT Mutations with Cancer Metastasis in Multiple Cancer Types.
  4. PTPRT Could Be a Treatment Predictive and Prognostic Biomarker for Breast Cancer.
    Title: PTPRT Could Be a Treatment Predictive and Prognostic Biomarker for Breast Cancer.
  5. PTPRT epigenetic silencing defines lung cancer with STAT3 activation and can direct STAT3 targeted therapies.
    Title: PTPRT epigenetic silencing defines lung cancer with STAT3 activation and can direct STAT3 targeted therapies.
  6. Study revealed a significantly higher prevalence of PTPRT and JAK2 mutations in lung adenocarcinomas among African Americans compared with European Americans. Patients carrying these mutations have a concomitant increase in IL-6/STAT3 signaling and miR-21 expression.
    Title: Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.
  7. A novel de novo 20q13.11q13.12 microdeletion was found in a boy with neurodevelopmental disorders. The established function of the PTPRT gene suggests that haploinsuficiency of this gene may result in the clinical features observed in our patient: stereotype movements, nervous tics, social and emotional disturbances and attention-span deficits.
    Title: A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report.
  8. The single cell genotyping not only confirmed the co-occurrence of the PTPRT, CAND1 and DOCK6 mutations in the same AML clone but also revealed a clonal hierarchy, as the PTPRT mutation was likely acquired after the CAND1 and DOCK6 mutations.
    Title: Single cell genotyping of exome sequencing-identified mutations to characterize the clonal composition and evolution of inv(16) AML in a CBL mutated clonal hematopoiesis.
  9. PTPRT promoter methylation is significantly associated with sensitivity to STAT3 inhibition in HNSCC cells, suggesting that PTPRT promoter methylation may serve as a predictive biomarker for responsiveness to STAT3 inhibitors in clinical development
    Title: Frequent promoter hypermethylation of PTPRT increases STAT3 activation and sensitivity to STAT3 inhibition in head and neck cancer.
  10. Data reported evidence that rs2866943 polymorphism in PTPRT 3'-UTR was involved in the occurrence of esophageal squamous cell carcinoma by acting as a protective factor while rs6029959 acts as a risk factor.
    Title: The Functional Variant in the 3'UTR of PTPRT with the Risk of Esophageal Squamous Cell Carcinoma in a Chinese Population.
Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
EBI GWAS Catalog
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0283

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables STAT family protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables alpha-actinin binding IEA
Inferred from Electronic Annotation
more info
  
enables alpha-catenin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables beta-catenin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables cadherin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables delta-catenin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables gamma-catenin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone H2AXY142 phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables non-membrane spanning protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein phosphatase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein tyrosine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein tyrosine phosphatase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein tyrosine phosphatase activity, metal-dependent IEA
Inferred from Electronic Annotation
more info
  
enables thiolester hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables transmembrane receptor protein tyrosine phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell adhesion NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cell surface receptor protein tyrosine kinase signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to interleukin-6 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of receptor signaling pathway via STAT IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of receptor signaling pathway via STAT IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peptidyl-tyrosine dephosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein dephosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of synapse organization IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in signal transduction NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
receptor-type tyrosine-protein phosphatase T
Names
receptor protein tyrosine phosphatase
receptor-type tyrosine-protein phosphatase rho
NP_001380953.1
NP_001380954.1
NP_001380955.1
NP_008981.4
NP_573400.3
XP_016883100.1
XP_016883101.1
XP_016883102.1
XP_047295802.1
XP_047295803.1
XP_047295804.1
XP_054178850.1
XP_054178851.1
XP_054178852.1
XP_054178853.1
XP_054178854.1
XP_054178855.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033880.3 RefSeqGene

    Range
    5000..1122150
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001394024.1 → NP_001380953.1  receptor-type tyrosine-protein phosphatase T isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AL021395, AL022239, AL024473, AL031656, AL035459, AL049812, AL121763, AL136461, Z93942
    UniProtKB/TrEMBL
    B1AJR9
    Related
    ENSP00000362280.1, ENST00000373184.5
    Conserved Domains (5) summary
    smart00060
    Location:289 → 360
    FN3; Fibronectin type 3 domain
    smart00137
    Location:29 → 189
    MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
    cd00063
    Location:502 → 584
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd14630
    Location:909 → 1165
    R-PTPc-T-1; catalytic domain of receptor-type tyrosine-protein phosphatase T, repeat 1
    cd14634
    Location:1250 → 1455
    R-PTPc-T-2; PTP domain of receptor-type tyrosine-protein phosphatase T, repeat 2

  2. NM_001394025.1 → NP_001380954.1  receptor-type tyrosine-protein phosphatase T isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AL021395, AL022239, AL024473, AL031656, AL035459, AL049812, AL121763, AL136461, Z93942
    UniProtKB/TrEMBL
    B1AJR8
    Related
    ENSP00000348408.2, ENST00000356100.6
    Conserved Domains (5) summary
    smart00060
    Location:289 → 360
    FN3; Fibronectin type 3 domain
    smart00137
    Location:29 → 189
    MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
    cd00063
    Location:502 → 584
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd14630
    Location:918 → 1154
    R-PTPc-T-1; catalytic domain of receptor-type tyrosine-protein phosphatase T, repeat 1
    cd14634
    Location:1239 → 1444
    R-PTPc-T-2; PTP domain of receptor-type tyrosine-protein phosphatase T, repeat 2

  3. NM_001394026.1 → NP_001380955.1  receptor-type tyrosine-protein phosphatase T isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AL021395, AL022239, AL024473, AL031656, AL035459, AL121763, AL136461, Z93942
    UniProtKB/TrEMBL
    B1AJR6
    Conserved Domains (5) summary
    smart00060
    Location:289 → 360
    FN3; Fibronectin type 3 domain
    smart00137
    Location:29 → 189
    MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
    smart00194
    Location:1173 → 1278
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00063
    Location:502 → 584
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd14630
    Location:909 → 1145
    R-PTPc-T-1; catalytic domain of receptor-type tyrosine-protein phosphatase T, repeat 1

  4. NM_007050.6 → NP_008981.4  receptor-type tyrosine-protein phosphatase T isoform 2 precursor

    See identical proteins and their annotated locations for NP_008981.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a fragment within the coding region when compared to variant 1. The translation remains in-frame, and thus encodes a protein that lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AL021395, AL022239, AL024473, AL031656, AL035459, AL049812, AL121763, AL136461, Z93942
    Consensus CDS
    CCDS42874.1
    UniProtKB/Swiss-Prot
    A8E4R6, O14522, O43655, O75664, Q5W0X9, Q5W0Y1, Q9BR24, Q9BR28, Q9H0Y8, Q9NTL1, Q9NU72, Q9UBD2, Q9UJL7
    UniProtKB/TrEMBL
    B1AJR6
    Related
    ENSP00000362283.1, ENST00000373187.6
    Conserved Domains (7) summary
    cd06263
    Location:32 → 189
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    smart00137
    Location:29 → 189
    MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
    smart00194
    Location:888 → 1142
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00047
    Location:915 → 1142
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
    cd00063
    Location:502 → 584
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:294 → 360
    fn3; Fibronectin type III domain
    cl11960
    Location:196 → 281
    Ig; Immunoglobulin domain

  5. NM_133170.4 → NP_573400.3  receptor-type tyrosine-protein phosphatase T isoform 1 precursor

    See identical proteins and their annotated locations for NP_573400.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL021395, AL022239, AL024473, AL031656, AL035459, AL049812, AL121763, AL136461, Z93942
    Consensus CDS
    CCDS68127.1
    UniProtKB/TrEMBL
    A0A075B6H0, B1AJR8
    Related
    ENSP00000362294.4, ENST00000373198.8
    Conserved Domains (7) summary
    cd06263
    Location:32 → 189
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    smart00137
    Location:29 → 189
    MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
    smart00194
    Location:907 → 1161
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00047
    Location:934 → 1161
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
    cd00063
    Location:502 → 584
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:294 → 360
    fn3; Fibronectin type III domain
    cl11960
    Location:196 → 281
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    42031890..43189906 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047439848.1 → XP_047295804.1  receptor-type tyrosine-protein phosphatase T isoform X5

  2. XM_047439846.1 → XP_047295802.1  receptor-type tyrosine-protein phosphatase T isoform X2

  3. XM_017027611.2 → XP_016883100.1  receptor-type tyrosine-protein phosphatase T isoform X1

    UniProtKB/TrEMBL
    B1AJR9

  4. XM_047439847.1 → XP_047295803.1  receptor-type tyrosine-protein phosphatase T isoform X4

  5. XM_017027612.2 → XP_016883101.1  receptor-type tyrosine-protein phosphatase T isoform X3

    UniProtKB/TrEMBL
    B1AJR8

  6. XM_017027613.2 → XP_016883102.1  receptor-type tyrosine-protein phosphatase T isoform X6

    UniProtKB/TrEMBL
    B1AJS0

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    43763752..44923941 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322879.1 → XP_054178854.1  receptor-type tyrosine-protein phosphatase T isoform X5

  2. XM_054322876.1 → XP_054178851.1  receptor-type tyrosine-protein phosphatase T isoform X2

  3. XM_054322875.1 → XP_054178850.1  receptor-type tyrosine-protein phosphatase T isoform X1

  4. XM_054322878.1 → XP_054178853.1  receptor-type tyrosine-protein phosphatase T isoform X4

  5. XM_054322877.1 → XP_054178852.1  receptor-type tyrosine-protein phosphatase T isoform X3

  6. XM_054322880.1 → XP_054178855.1  receptor-type tyrosine-protein phosphatase T isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14522.6 GenPept UniProtKB/Swiss-Prot:O14522

Gene LinkOut

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