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    TPTE2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 [ Homo sapiens (human) ]

    Gene ID: 93492, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TPTE2provided by HGNC
    Official Full Name
    transmembrane phosphoinositide 3-phosphatase and tensin homolog 2provided by HGNC
    Primary source
    HGNC:HGNC:17299
    See related
    Ensembl:ENSG00000132958 MIM:606791; AllianceGenome:HGNC:17299
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TPIP
    Summary
    TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]
    Expression
    Restricted expression toward testis (RPKM 4.7) See more
    Orthologs
    all
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    Genomic context

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    See TPTE2 in Genome Data Viewer
    Location:
    13q12.11
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (19422877..19561574, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (18618970..18757628, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (19997017..20135714, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene poly(ADP-ribose) polymerase family member 4 pseudogene 2 Neighboring gene CCNQ pseudogene 3 Neighboring gene solute carrier family 25 member 15 pseudogene 2 Neighboring gene uncharacterized LOC124903271 Neighboring gene CYCS pseudogene 32 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5137 Neighboring gene mitochondrial ribosomal protein S31 pseudogene 2 Neighboring gene TPTE2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7404 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:20161162-20161342 Neighboring gene GOLM2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7405 Neighboring gene estrogen-related receptor alpha pseudogene 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:20173929-20174918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:20219053-20219554 Neighboring gene M-phase phosphoprotein 8 Neighboring gene paraspeckle component 1 Neighboring gene RNA, 7SL, cytoplasmic 166, pseudogene

    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. Downregulation of TPTE2P1 Inhibits Migration and Invasion of Gallbladder Cancer Cells. Lv W, et al. Chem Biol Drug Des, 2015 Oct. PMID 25676706
    2. Cell cycle arrest and apoptosis by expression of a novel TPIP (TPIP-C2) cDNA encoding a C2-domain in HEK-293 cells. Mishra RR, et al. Mol Biol Rep, 2012 Jul. PMID 22311048
    3. A human phospholipid phosphatase activated by a transmembrane control module. Halaszovich CR, et al. J Lipid Res, 2012 Nov. PMID 22896666, Free PMC Article
    4. TPIP: a novel phosphoinositide 3-phosphatase. Walker SM, et al. Biochem J, 2001 Dec 1. PMID 11716755, Free PMC Article
    5. The role of PTEN in the progression and survival of prostate cancer. Deocampo ND, et al. Minerva Endocrinol, 2003 Jun. PMID 12717346

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The role of TPTE2 in gallbladder cancer cells
      Title: Downregulation of TPTE2P1 Inhibits Migration and Invasion of Gallbladder Cancer Cells.
    2. TPTE2 was originally reported to be a phosphoinositide 3'-phosphatase, like the tumor suppressor PTEN. Later on, other homologous phosphatases, such as Ci-VSP and Dr-VSP, have been described. These proteins are 5'-phosphatases. More recently, using a chimeric construct, we have shown that the catalytic domain of TPTE2 behaves as a 5'-phosphatase as well.
      Title: A human phospholipid phosphatase activated by a transmembrane control module.
    3. findings suggest that C2-domain of TPIP-C2 may act as a dominant negative effector, which may bind to and arrest the cell proliferation signalling complex
      Title: Cell cycle arrest and apoptosis by expression of a novel TPIP (TPIP-C2) cDNA encoding a C2-domain in HEK-293 cells.
    4. the TPIP splice-variant (TPIP-C2) mRNA is expressed in human and mouse tissues and strongly inhibits cell growth in HeLa cells
      Title: A novel human TPIP splice-variant (TPIP-C2) mRNA, expressed in human and mouse tissues, strongly inhibits cell growth in HeLa cells.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • MGC149231

    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 phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2
    Names
    PTEN-like inositol lipid phosphatase
    TPIP lipid phosphatase
    TPTE and PTEN homologous inositol lipid phosphatase
    lipid phosphatase TPIP
    transmembrane phosphoinositide 3-phosphatase and tensin 2-like protein
    NP_001135440.1
    NP_001258779.1
    NP_001382907.1
    NP_570141.3
    NP_954863.2

    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.

    mRNA and Protein(s)

    1. NM_001141968.2 → NP_001135440.1  phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform delta

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) includes an additional exon in the 5' UTR and lacks three consecutive in-frame exons in the coding region, compared to variant 3. The resulting isoform (delta) has the same N- and C-termini but lacks an internal segment compared to isoform gamma.
      Source sequence(s)
      AL590076, AY219890, BC128146, BG200515
      Consensus CDS
      CCDS45013.1
      UniProtKB/TrEMBL
      A0A286KIS6
      Related
      ENSP00000382974.2, ENST00000400103.7
      Conserved Domains (3) summary
      smart00404
      Location:177 → 235
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
      COG2453
      Location:158 → 283
      CDC14; Protein-tyrosine phosphatase [Signal transduction mechanisms]
      pfam10409
      Location:280 → 410
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein

    2. NM_001271850.2 → NP_001258779.1  phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform C2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks multiple 5' exons but has an alternate segment at the 5' end compared to variant 3. These differences cause translation initiation at a downstream AUG and the resulting isoform (C2) has a much shorter N-terminus, compared to isoform gamma.
      Source sequence(s)
      AL590076, BC128146, BG200515, FJ969729
      UniProtKB/Swiss-Prot
      Q6XPS3
      Conserved Domains (1) summary
      pfam10409
      Location:62 → 192
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein

    3. NM_001395978.1 → NP_001382907.1  phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform gamma

      Status: VALIDATED

      Source sequence(s)
      AL359457, AL590076
      Consensus CDS
      CCDS45014.1
      UniProtKB/Swiss-Prot
      A1A4X0, A1A4X1, A8MX64, B1AQ16, B4DWZ2, Q5VUH2, Q6XPS3, Q8WWL4, Q8WWL5
      UniProtKB/TrEMBL
      A0A286KIS6
      Related
      ENSP00000513136.1, ENST00000697147.1
      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

    4. NM_130785.4 → NP_570141.3  phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform alpha

      See identical proteins and their annotated locations for NP_570141.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks three alternate in-frame exons, compared to variant 3. The resulting isoform (alpha) has the same N- and C- termini but lacks two internal segments compared to isoform gamma.
      Source sequence(s)
      AJ421032, AL359457, AL590076, BG200515
      Consensus CDS
      CCDS9285.1
      UniProtKB/TrEMBL
      A0A286KIS6
      Related
      ENSP00000375098.2, ENST00000390680.2
      Conserved Domains (3) summary
      smart00404
      Location:211 → 269
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
      COG2453
      Location:192 → 317
      CDC14; Protein-tyrosine phosphatase [Signal transduction mechanisms]
      pfam10409
      Location:314 → 444
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein

    5. NM_199254.3 → NP_954863.2  phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform gamma

      See identical proteins and their annotated locations for NP_954863.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcripts and encodes the longest isoform (gamma).
      Source sequence(s)
      AL359457, AL590076, AY219890, BG200515
      Consensus CDS
      CCDS45014.1
      UniProtKB/Swiss-Prot
      A1A4X0, A1A4X1, A8MX64, B1AQ16, B4DWZ2, Q5VUH2, Q6XPS3, Q8WWL4, Q8WWL5
      UniProtKB/TrEMBL
      A0A286KIS6
      Related
      ENSP00000513024.1, ENST00000696988.1
      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

    RNA

    1. NR_073485.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains three alternate 5' exons and has an additonal exon in the 3' region, which includes a stop codon, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK301741, AL590076, BG200515, BG207812
      Related
      ENST00000696859.1

    2. NR_073486.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7, also known as beta) lacks several internal exons and has an alternate exon in the 3' region, which includes a stop codon, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ421032, AJ421033, AL590076, BC128146, BG200515
      Related
      ENST00000462409.5

    3. NR_073487.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks several internal exons, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ421032, AK301741, AL590076, BC128147, BG200515

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      19422877..19561574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      18618970..18757628 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_199255.1: Suppressed sequence

      Description
      NM_199255.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6XPS3.2 GenPept UniProtKB/Swiss-Prot:Q6XPS3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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