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    TPTE transmembrane phosphatase with tensin homology [ Homo sapiens (human) ]

    Gene ID: 7179, updated on 17-Jun-2024

    Summary

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    Official Symbol
    TPTEprovided by HGNC
    Official Full Name
    transmembrane phosphatase with tensin homologyprovided by HGNC
    Primary source
    HGNC:HGNC:12023
    See related
    Ensembl:ENSG00000274391 MIM:604336; AllianceGenome:HGNC:12023
    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
    CT44; PTEN2; TPTE1
    Summary
    This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
    Expression
    Restricted expression toward testis (RPKM 57.8) See more
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    Genomic context

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    See TPTE in Genome Data Viewer
    Location:
    21p11.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (10521583..10605716)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (10521020..10605159, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (10906741..10990874, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11149351-11149545 Neighboring gene Sharpr-MPRA regulatory region 1951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:11143879-11144379 Neighboring gene vomeronasal 1 receptor 7 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11110990-11111153 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11095452-11095553 Neighboring gene BAGE family member 2 (pseudogene) Neighboring gene Sharpr-MPRA regulatory region 1956 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr21:11058865-11059648 Neighboring gene NANOG hESC enhancer GRCh37_chr21:11040874-11041867 Neighboring gene NANOG hESC enhancer GRCh37_chr21:11038995-11039496 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11010869-11011015 Neighboring gene uncharacterized LOC124905063 Neighboring gene CYCS pseudogene 41 Neighboring gene solute carrier family 25 member 15 pseudogene 4 Neighboring gene immunoglobulin heavy variable 1/OR21-1 (non-functional)

    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
    • 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. Humoral immune responses of lung cancer patients against the Transmembrane Phosphatase with TEnsin homology (TPTE). Kuemmel A, et al. Lung Cancer, 2015 Nov. PMID 26350112
    2. PTEN 2, a Golgi-associated testis-specific homologue of the PTEN tumor suppressor lipid phosphatase. Wu Y, et al. J Biol Chem, 2001 Jun 15. PMID 11279206
    3. Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21. Guipponi M, et al. Hum Genet, 2000 Aug. PMID 11030409
    4. A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y. Chen H, et al. Hum Genet, 1999 Nov. PMID 10598804
    5. 10 years of Genomics, chromosome 21, and Down syndrome. Antonarakis SE. Genomics, 1998 Jul 1. PMID 9693027

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of Transmembrane Phosphatase with Tensin homology (TPTE) in prostate cancer is clinically significant, suggesting its potential as a valuable biomarker.
      Title: Overexpression of Transmembrane Phosphatase with Tensin homology (TPTE) in prostate cancer is clinically significant, suggesting its potential as a valuable biomarker.
    2. TPTE sero-reactivity has moderate sensitivity.
      Title: Humoral immune responses of lung cancer patients against the Transmembrane Phosphatase with TEnsin homology (TPTE).
    3. Gene dosage change of TPTE is associated with Robertsonian Down syndrome
      Title: Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome.
    Submit: New GeneRIF Correction

    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
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of transmembrane phosphatase with tensin homology (TPTE) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables monoatomic ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein dephosphorylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    putative tyrosine-protein phosphatase TPTE
    Names
    PTEN-related tyrosine phosphatase
    cancer/testis antigen 44
    tensin, putative protein-tyrosine phosphatase
    tumor antigen BJ-HCC-5
    NP_001277153.2
    NP_954868.2
    NP_954869.2
    NP_954870.3

    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_034032.2 RefSeqGene

      Range
      5002..89135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001290224.2 → NP_001277153.2  putative tyrosine-protein phosphatase TPTE isoform delta

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from a downstream start codon, compared to variant 1. The encoded protein (delta) has a shorter N-terminus, compared to isoform alpha.
      Source sequence(s)
      AF254983, AL078471
      Consensus CDS
      CCDS77617.1
      Related
      ENSP00000483087.1, ENST00000612746.1
      Conserved Domains (2) summary
      cd14510
      Location:86 → 262
      PTP_VSP_TPTE; protein tyrosine phosphatase-like catalytic domain of voltage-sensitive phosphatase/transmembrane phosphatase with tensin homology
      pfam10409
      Location:271 → 401
      PTEN_C2; C2 domain of PTEN tumor-suppressor protein

    2. NM_199259.4 → NP_954868.2  putative tyrosine-protein phosphatase TPTE isoform beta

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame coding exon, compared to variant 1. The resulting protein (isoform beta) is missing an internal segment when compared to isoform alpha.
      Source sequence(s)
      AF254983, AL078471
      Consensus CDS
      CCDS74772.1
      Related
      ENSP00000482040.1, ENST00000622113.4
      Conserved Domains (2) summary
      cd14510
      Location:206 → 382
      PTP_VSP_TPTE; protein tyrosine phosphatase-like catalytic domain of voltage-sensitive phosphatase/transmembrane phosphatase with tensin homology
      pfam10409
      Location:391 → 521
      PTEN_C2; C2 domain of PTEN tumor-suppressor protein

    3. NM_199260.4 → NP_954869.2  putative tyrosine-protein phosphatase TPTE isoform gamma

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame coding exons, compared to variant 1. The resulting protein (isoform gamma) is missing an internal segment when compared to isoform alpha.
      Source sequence(s)
      AF254983, AL078471
      Consensus CDS
      CCDS74773.1
      Related
      ENSP00000482488.1, ENST00000427445.6
      Conserved Domains (2) summary
      cd14510
      Location:186 → 362
      PTP_VSP_TPTE; protein tyrosine phosphatase-like catalytic domain of voltage-sensitive phosphatase/transmembrane phosphatase with tensin homology
      pfam10409
      Location:371 → 501
      PTEN_C2; C2 domain of PTEN tumor-suppressor protein

    4. NM_199261.4 → NP_954870.3  putative tyrosine-protein phosphatase TPTE isoform alpha

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (alpha).
      Source sequence(s)
      AF254983, AL078471
      Consensus CDS
      CCDS74771.1
      UniProtKB/Swiss-Prot
      B2RAP7, C9J6D6, C9JKK8, P56180, Q6XPS4, Q6XPS5, Q71JA8, Q8NCS8
      Related
      ENSP00000484403.1, ENST00000618007.5
      Conserved Domains (2) summary
      cd14510
      Location:224 → 400
      PTP_VSP_TPTE; protein tyrosine phosphatase-like catalytic domain of voltage-sensitive phosphatase/transmembrane phosphatase with tensin homology
      pfam10409
      Location:409 → 539
      PTEN_C2; C2 domain of PTEN tumor-suppressor protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      10521583..10605716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      10521020..10605159 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P56180.3 GenPept UniProtKB/Swiss-Prot:P56180

    Gene LinkOut

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