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Aliases for TPTE Gene

Aliases for TPTE Gene

  • Transmembrane Phosphatase With Tensin Homology 2 3 4 5
  • Cancer/Testis Antigen 44 2 3 4
  • PTEN-Related Tyrosine Phosphatase 2 3
  • Tumor Antigen BJ-HCC-5 3 4
  • CT44 3 4
  • Tensin, Putative Protein-Tyrosine Phosphatase 3
  • Putative Tyrosine-Protein Phosphatase TPTE 3
  • EC 3.1.3.48 4
  • PTEN2 3

External Ids for TPTE Gene

Previous GeneCards Identifiers for TPTE Gene

  • GC21M007669
  • GC21M009928
  • GC21M009929
  • GC21M010906

Summaries for TPTE Gene

Entrez Gene Summary for TPTE Gene

  • 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]

GeneCards Summary for TPTE Gene

TPTE (Transmembrane Phosphatase With Tensin Homology) is a Protein Coding gene. Diseases associated with TPTE include Long Qt Syndrome 1. Among its related pathways are Metabolism and PI Metabolism. GO annotations related to this gene include ion channel activity and protein tyrosine phosphatase activity. An important paralog of this gene is TPTE2.

UniProtKB/Swiss-Prot for TPTE Gene

  • Could be involved in signal transduction.

Gene Wiki entry for TPTE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPTE Gene

Genomics for TPTE Gene

Regulatory Elements for TPTE Gene


Promoters for TPTE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001839498 386 1400 ZBTB33

Genomic Location for TPTE Gene

Chromosome:
21
Start:
10,521,514 bp from pter
End:
10,606,270 bp from pter
Size:
84,757 bases
Orientation:
Plus strand

Genomic View for TPTE Gene

Genes around TPTE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPTE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPTE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPTE Gene

Proteins for TPTE Gene

  • Protein details for TPTE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56180-TPTE_HUMAN
    Recommended name:
    Putative tyrosine-protein phosphatase TPTE
    Protein Accession:
    P56180
    Secondary Accessions:
    • B2RAP7
    • C9J6D6
    • C9JKK8
    • Q6XPS4
    • Q6XPS5
    • Q71JA8
    • Q8NCS8

    Protein attributes for TPTE Gene

    Size:
    551 amino acids
    Molecular mass:
    64322 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TPTE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TPTE Gene

Post-translational modifications for TPTE Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TPTE Gene

No data available for DME Specific Peptides for TPTE Gene

Domains & Families for TPTE Gene

Suggested Antigen Peptide Sequences for TPTE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P56180

UniProtKB/Swiss-Prot:

TPTE_HUMAN :
  • Contains 1 C2 tensin-type domain.
Domain:
  • Contains 1 C2 tensin-type domain.
  • Contains 1 phosphatase tensin-type domain.
genes like me logo Genes that share domains with TPTE: view

Function for TPTE Gene

Molecular function for TPTE Gene

GENATLAS Biochemistry:
transmembrane phosphatase with tensin homology,putatively involved in linking the cell membrane to cytoskeleton,expressed in testis
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot Function:
Could be involved in signal transduction.

Enzyme Numbers (IUBMB) for TPTE Gene

Gene Ontology (GO) - Molecular Function for TPTE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004725 protein tyrosine phosphatase activity IEA,TAS --
GO:0008138 protein tyrosine/serine/threonine phosphatase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity IEA --
genes like me logo Genes that share ontologies with TPTE: view
genes like me logo Genes that share phenotypes with TPTE: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TPTE

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TPTE Gene

Localization for TPTE Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPTE Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TPTE Gene COMPARTMENTS Subcellular localization image for TPTE gene
Compartment Confidence
cytosol 3
plasma membrane 3
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TPTE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS --
genes like me logo Genes that share ontologies with TPTE: view

Pathways & Interactions for TPTE Gene

genes like me logo Genes that share pathways with TPTE: view

Interacting Proteins for TPTE Gene

Gene Ontology (GO) - Biological Process for TPTE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation TAS 10598804
GO:0007165 signal transduction TAS 10598804
GO:0016311 dephosphorylation IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
genes like me logo Genes that share ontologies with TPTE: view

No data available for SIGNOR curated interactions for TPTE Gene

Drugs & Compounds for TPTE Gene

(3) Drugs for TPTE Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(1) Additional Compounds for TPTE Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with TPTE: view

Transcripts for TPTE Gene

Unigene Clusters for TPTE Gene

Transmembrane phosphatase with tensin homology:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TPTE Gene

No ASD Table

Relevant External Links for TPTE Gene

GeneLoc Exon Structure for
TPTE
ECgene alternative splicing isoforms for
TPTE

Expression for TPTE Gene

mRNA expression in normal human tissues for TPTE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TPTE Gene

This gene is overexpressed in Testis (x51.8).

Protein differential expression in normal tissues from HIPED for TPTE Gene

This gene is overexpressed in Bone (53.5) and Testis (15.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TPTE Gene



Protein tissue co-expression partners for TPTE Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TPTE Gene:

TPTE

SOURCE GeneReport for Unigene cluster for TPTE Gene:

Hs.122986

mRNA Expression by UniProt/SwissProt for TPTE Gene:

P56180-TPTE_HUMAN
Tissue specificity: Exclusively expressed in testis.
genes like me logo Genes that share expression patterns with TPTE: view

Primer Products

Orthologs for TPTE Gene

This gene was present in the common ancestor of chordates.

Orthologs for TPTE Gene

Organism Taxonomy Gene Similarity Type Details
zebrafish
(Danio rerio)
Actinopterygii wufi24b06 34
Species where no ortholog for TPTE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TPTE Gene

ENSEMBL:
Gene Tree for TPTE (if available)
TreeFam:
Gene Tree for TPTE (if available)

Paralogs for TPTE Gene

Paralogs for TPTE Gene

(4) SIMAP similar genes for TPTE Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for TPTE Gene

genes like me logo Genes that share paralogs with TPTE: view

Variants for TPTE Gene

Sequence variations from dbSNP and Humsavar for TPTE Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs144333919 A breast cancer sample 10,561,176(-) ATACT(C/T)GAAGA reference, missense
rs149363218 Uncertain significance 10,602,055(-) GTACC(-/TA)TGAAT splice-acceptor-variant
rs10222123 -- 10,556,868(-) tgggc(A/G)aagga intron-variant
rs10433036 -- 10,568,719(-) CTTCT(C/T)ATATT intron-variant
rs10433039 -- 10,540,565(-) GTTTT(A/G)GCTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TPTE Gene

Variant ID Type Subtype PubMed ID
dgv2337n106 CNV duplication 24896259
dgv2461e59 CNV duplication 20981092
dgv2462e59 CNV duplication 20981092
dgv2463e59 CNV duplication 20981092
dgv2464e59 CNV duplication 20981092
dgv2465e59 CNV duplication 20981092
dgv2466e59 CNV duplication 20981092
dgv4349n100 CNV gain+loss 25217958
dgv4350n100 CNV loss 25217958
dgv4351n100 CNV gain 25217958
dgv4352n100 CNV gain+loss 25217958
dgv4353n100 CNV loss 25217958
dgv4354n100 CNV gain+loss 25217958
dgv4355n100 CNV gain 25217958
dgv4356n100 CNV loss 25217958
dgv4357n100 CNV loss 25217958
dgv4358n100 CNV gain 25217958
dgv4359n100 CNV loss 25217958
dgv4360n100 CNV gain 25217958
dgv4361n100 CNV loss 25217958
dgv4362n100 CNV loss 25217958
dgv4363n100 CNV loss 25217958
dgv4364n100 CNV loss 25217958
dgv4365n100 CNV loss 25217958
dgv4366n100 CNV gain+loss 25217958
dgv4367n100 CNV gain 25217958
dgv4368n100 CNV gain+loss 25217958
dgv4369n100 CNV gain 25217958
dgv4370n100 CNV loss 25217958
dgv67n17 CNV loss 16327808
dgv69n68 CNV loss 17160897
dgv711n67 CNV gain 20364138
dgv712n67 CNV gain 20364138
dgv7728n54 CNV gain 21841781
dgv7729n54 CNV gain 21841781
dgv7731n54 CNV loss 21841781
dgv7734n54 CNV loss 21841781
dgv7737n54 CNV loss 21841781
dgv7743n54 CNV gain 21841781
dgv7748n54 CNV loss 21841781
dgv794e214 CNV gain 21293372
esv1000174 CNV deletion 20482838
esv2657054 CNV deletion 23128226
esv2661615 CNV deletion 23128226
esv2668163 CNV deletion 23128226
esv2758808 CNV gain+loss 17122850
esv2760696 CNV gain+loss 21179565
esv2763681 CNV gain+loss 21179565
esv28756 CNV gain+loss 19812545
esv2958235 CNV duplication 24192839
esv29976 CNV gain 17803354
esv32564 CNV gain+loss 17666407
esv3324515 CNV duplication 20981092
esv3334752 CNV duplication 20981092
esv3336820 CNV duplication 20981092
esv3344502 CNV duplication 20981092
esv3352520 CNV duplication 20981092
esv3364267 CNV duplication 20981092
esv3396629 CNV insertion 20981092
esv3402322 CNV duplication 20981092
esv3407632 CNV duplication 20981092
esv3415159 CNV duplication 20981092
esv3430450 CNV duplication 20981092
esv3434564 CNV duplication 20981092
esv3435572 CNV duplication 20981092
esv3443462 CNV duplication 20981092
esv3445742 CNV duplication 20981092
esv3448383 CNV duplication 20981092
esv3448498 CNV duplication 20981092
esv3449690 CNV duplication 20981092
esv3451460 CNV duplication 20981092
esv3452183 CNV duplication 20981092
esv3557430 CNV deletion 23714750
esv991443 OTHER inversion 20482838
esv992725 CNV deletion 20482838
nsv1059291 CNV loss 25217958
nsv1059430 CNV loss 25217958
nsv1059477 CNV gain 25217958
nsv1059487 CNV gain 25217958
nsv1059896 CNV gain+loss 25217958
nsv1060052 CNV loss 25217958
nsv1062472 CNV gain 25217958
nsv1063335 CNV loss 25217958
nsv1064391 CNV loss 25217958
nsv1064913 CNV gain 25217958
nsv1065971 CNV loss 25217958
nsv1066273 CNV gain 25217958
nsv1072578 CNV deletion 25765185
nsv1073106 CNV deletion 25765185
nsv1078496 CNV duplication 25765185
nsv1124842 CNV duplication 24896259
nsv1147252 CNV duplication 26484159
nsv1148217 CNV duplication 26484159
nsv1160693 CNV duplication 26073780
nsv428382 CNV gain+loss 18775914
nsv436336 CNV deletion 17901297
nsv437841 CNV loss 16327808
nsv438312 CNV loss 16468122
nsv442783 CNV gain 18776908
nsv512628 CNV loss 21212237
nsv586977 CNV loss 21841781
nsv819313 CNV gain 19587683
nsv834040 CNV loss 17160897
nsv953331 CNV duplication 24416366
nsv956724 CNV deletion 24416366
nsv962658 CNV duplication 23825009
nsv979511 CNV duplication 23825009
nsv979512 CNV duplication 23825009
nsv979513 CNV duplication 23825009
nsv9837 CNV gain+loss 18304495

Variation tolerance for TPTE Gene

Residual Variation Intolerance Score: 99.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.91; 48.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TPTE Gene

Human Gene Mutation Database (HGMD)
TPTE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPTE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPTE Gene

Disorders for TPTE Gene

MalaCards: The human disease database

(1) MalaCards diseases for TPTE Gene - From: DISEASES

Disorder Aliases PubMed IDs
long qt syndrome 1
  • long qt syndrome 1, acquired
- elite association - COSMIC cancer census association via MalaCards
Search TPTE in MalaCards View complete list of genes associated with diseases

Relevant External Links for TPTE

Genetic Association Database (GAD)
TPTE
Human Genome Epidemiology (HuGE) Navigator
TPTE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TPTE
genes like me logo Genes that share disorders with TPTE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TPTE Gene

Publications for TPTE Gene

  1. The TPTE gene family: cellular expression, subcellular localization and alternative splicing. (PMID: 14659893) Tapparel C. … Antonarakis S.E. (Gene 2003) 2 3 4 22 64
  2. 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. (PMID: 10598804) Chen H. … Antonarakis S.E. (Hum. Genet. 1999) 3 4 22 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family. (PMID: 11810268) Guipponi M. … Antonarakis S.E. (Hum. Genet. 2001) 2 3 64
  5. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3 4 64

Products for TPTE Gene

Sources for TPTE Gene

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