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    PTPN18 protein tyrosine phosphatase non-receptor type 18 [ Homo sapiens (human) ]

    Gene ID: 26469, updated on 11-Apr-2024

    Summary

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    Official Symbol
    PTPN18provided by HGNC
    Official Full Name
    protein tyrosine phosphatase non-receptor type 18provided by HGNC
    Primary source
    HGNC:HGNC:9649
    See related
    Ensembl:ENSG00000072135 MIM:606587; AllianceGenome:HGNC:9649
    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
    BDP1; PTP-HSCF
    Summary
    The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 34.1), spleen (RPKM 27.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PTPN18 in Genome Data Viewer
    Location:
    2q21.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130356056..130375405)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (130789979..130809308)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131113629..131132978)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16527 Neighboring gene coiled-coil domain containing 115 Neighboring gene IMP U3 small nucleolar ribonucleoprotein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11956 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:131129403-131130030 Neighboring gene uncharacterized LOC105373618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11960 Neighboring gene fatty acyl-CoA reductase 2 pseudogene 2 Neighboring gene Kruppel like factor 2 pseudogene 2

    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. PTPN18 Serves as a Potential Oncogene for Glioblastoma by Enhancing Immune Suppression. Wang T, et al. Oxid Med Cell Longev, 2023. PMID 36846716, Free PMC Article
    2. Phospho-PTM proteomic discovery of novel EPO- modulated kinases and phosphatases, including PTPN18 as a positive regulator of EPOR/JAK2 Signaling. Held MA, et al. Cell Signal, 2020 May. PMID 32027948, Free PMC Article
    3. Downregulation of PTPN18 can inhibit proliferation and metastasis and promote apoptosis of endometrial cancer. Cai J, et al. Clin Exp Pharmacol Physiol, 2019 Aug. PMID 31034093
    4. A bioinformatics analysis of protein tyrosine phosphatases in humans. Gandhi TK, et al. DNA Res, 2005. PMID 16303740
    5. Characterization of the PEST family protein tyrosine phosphatase BDP1. Kim YW, et al. Oncogene, 1996 Nov 21. PMID 8950995

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PTPN18 Serves as a Potential Oncogene for Glioblastoma by Enhancing Immune Suppression.
      Title: PTPN18 Serves as a Potential Oncogene for Glioblastoma by Enhancing Immune Suppression.
    2. Phospho-PTM proteomic discovery of novel EPO- modulated kinases and phosphatases, including PTPN18 as a positive regulator of EPOR/JAK2 Signaling.
      Title: Phospho-PTM proteomic discovery of novel EPO- modulated kinases and phosphatases, including PTPN18 as a positive regulator of EPOR/JAK2 Signaling.
    3. Downregulation of PTPN18 can inhibit proliferation and metastasis and promote apoptosis of endometrial cancer
      Title: Downregulation of PTPN18 can inhibit proliferation and metastasis and promote apoptosis of endometrial cancer.
    4. PTPN12, PTPRN and PTPN18 were independent prognostic factors in Hepatocellular Carcinoma.
      Title: Prognostic Value of Phosphotyrosine Phosphatases in Hepatocellular Carcinoma.
    5. PTPN18 regulates HER2-mediated cellular functions through defining both its phosphorylation and ubiquitination barcodes.
      Title: The catalytic region and PEST domain of PTPN18 distinctly regulate the HER2 phosphorylation and ubiquitination barcodes.
    6. novel isoform of PTPN18 based on analysis of expressed sequence tags was discovered; deletion of 4 exons in the catalytic domain of the isoform may alter enzymatic activity; 2 of the novel isoform predictions were experimentally validated through RT-PCR
      Title: A bioinformatics analysis of protein tyrosine phosphatases in humans.
    7. BDP1 has a role in negative regulation of HER2 signaling
      Title: Negative regulation of HER2 signaling by the PEST-type protein-tyrosine phosphatase BDP1.
    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)

    Genotypes

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables non-membrane spanning protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein tyrosine phosphatase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables protein tyrosine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in blastocyst formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of ERBB signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein dephosphorylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    tyrosine-protein phosphatase non-receptor type 18
    Names
    brain-derived phosphatase
    protein tyrosine phosphatase, non-receptor type 18 (brain-derived)
    NP_001135842.1
    NP_055184.2
    XP_006712479.1
    XP_006712480.1
    XP_047299865.1
    XP_047299866.1
    XP_054197334.1
    XP_054197335.1
    XP_054197336.1
    XP_054197337.1

    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_001142370.2 → NP_001135842.1  tyrosine-protein phosphatase non-receptor type 18 isoform 2

      See identical proteins and their annotated locations for NP_001135842.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks four internal exons in the 5' coding region that results in the loss of an in-frame segment, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC132479, AK303804, BM789073, CA310199, DN995571
      Consensus CDS
      CCDS46410.1
      UniProtKB/TrEMBL
      Q7Z637
      Related
      ENSP00000310092.5, ENST00000347849.7
      Conserved Domains (2) summary
      cd00047
      Location:32 → 183
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
      pfam00102
      Location:32 → 183
      Y_phosphatase; Protein-tyrosine phosphatase

    2. NM_014369.4 → NP_055184.2  tyrosine-protein phosphatase non-receptor type 18 isoform 1

      See identical proteins and their annotated locations for NP_055184.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC132479, AK303804, BM789073, CA310199, DN995571, X79568
      Consensus CDS
      CCDS2161.1
      UniProtKB/Swiss-Prot
      B4E1E6, Q53P42, Q99952
      Related
      ENSP00000175756.5, ENST00000175756.10
      Conserved Domains (2) summary
      cd00047
      Location:59 → 290
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
      pfam00102
      Location:56 → 290
      Y_phosphatase; Protein-tyrosine phosphatase

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      130356056..130375405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712417.2 → XP_006712480.1  tyrosine-protein phosphatase non-receptor type 18 isoform X1

      See identical proteins and their annotated locations for XP_006712480.1

      Conserved Domains (2) summary
      cd00047
      Location:59 → 290
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
      pfam00102
      Location:56 → 290
      Y_phosphatase; Protein-tyrosine phosphatase

    2. XM_006712416.5 → XP_006712479.1  tyrosine-protein phosphatase non-receptor type 18 isoform X2

      UniProtKB/TrEMBL
      Q7Z637
      Conserved Domains (2) summary
      cd00047
      Location:32 → 183
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
      pfam00102
      Location:32 → 183
      Y_phosphatase; Protein-tyrosine phosphatase

    3. XM_047443910.1 → XP_047299866.1  tyrosine-protein phosphatase non-receptor type 18 isoform X4

    4. XM_047443909.1 → XP_047299865.1  tyrosine-protein phosphatase non-receptor type 18 isoform X3

      Related
      ENSP00000387031.2, ENST00000409022.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      130789979..130809308
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341359.1 → XP_054197334.1  tyrosine-protein phosphatase non-receptor type 18 isoform X1

    2. XM_054341360.1 → XP_054197335.1  tyrosine-protein phosphatase non-receptor type 18 isoform X2

    3. XM_054341362.1 → XP_054197337.1  tyrosine-protein phosphatase non-receptor type 18 isoform X4

    4. XM_054341361.1 → XP_054197336.1  tyrosine-protein phosphatase non-receptor type 18 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99952.2 GenPept UniProtKB/Swiss-Prot:Q99952

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