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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

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

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_001141968.2NP_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:177235
    PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    COG2453
    Location:158283
    CDC14; Protein-tyrosine phosphatase [Signal transduction mechanisms]
    pfam10409
    Location:280410
    PTEN_C2; C2 domain of PTEN tumour-suppressor protein
  2. NM_001271850.2NP_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:62192
    PTEN_C2; C2 domain of PTEN tumour-suppressor protein
  3. NM_001395978.1NP_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:206382
    PTP_VSP_TPTE; protein tyrosine phosphatase-like catalytic domain of voltage-sensitive phosphatase/transmembrane phosphatase with tensin homology
    pfam10409
    Location:391521
    PTEN_C2; C2 domain of PTEN tumor-suppressor protein
  4. NM_130785.4NP_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:211269
    PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    COG2453
    Location:192317
    CDC14; Protein-tyrosine phosphatase [Signal transduction mechanisms]
    pfam10409
    Location:314444
    PTEN_C2; C2 domain of PTEN tumour-suppressor protein
  5. NM_199254.3NP_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:206382
    PTP_VSP_TPTE; protein tyrosine phosphatase-like catalytic domain of voltage-sensitive phosphatase/transmembrane phosphatase with tensin homology
    pfam10409
    Location:391521
    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.