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

Gene ID: 7179, updated on 11-Apr-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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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 TAS
Traceable Author Statement
more info
 PubMed 

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

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