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    PTPN14 protein tyrosine phosphatase non-receptor type 14 [ Homo sapiens (human) ]

    Gene ID: 5784, updated on 14-Nov-2024

    Summary

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    Official Symbol
    PTPN14provided by HGNC
    Official Full Name
    protein tyrosine phosphatase non-receptor type 14provided by HGNC
    Primary source
    HGNC:HGNC:9647
    See related
    Ensembl:ENSG00000152104 MIM:603155; AllianceGenome:HGNC:9647
    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
    PEZ; PTP36; PTPD2; CATLPH
    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, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]
    Expression
    Ubiquitous expression in skin (RPKM 9.0), kidney (RPKM 5.5) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PTPN14 in Genome Data Viewer
    Location:
    1q32.3-q41
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (214348700..214551602, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (213588194..213791283, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (214522043..214724945, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:214453457-214454022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1814 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:214475531-214475666 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:214490349-214490852 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:214489845-214490348 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:214490853-214491356 Neighboring gene SET and MYND domain containing 2 Neighboring gene Sharpr-MPRA regulatory region 1006 Neighboring gene NANOG hESC enhancer GRCh37_chr1:214515875-214516376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:214543020-214543520 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:214553675-214554176 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:214554177-214554676 Neighboring gene uncharacterized LOC124904508 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:214592894-214593456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2532 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:214612491-214613462 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:214619781-214620467 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:214623549-214624048 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:214656924-214657632 Neighboring gene adaptor related protein complex 3 subunit sigma 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:214678347-214679324 Neighboring gene Sharpr-MPRA regulatory region 6950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:214698971-214699854 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:214723608-214724429 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:214724430-214725250 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:214725251-214726071 Neighboring gene keratin 18 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1815 Neighboring gene ABHD17A pseudogene 3 Neighboring gene UBE2V1 pseudogene 13 Neighboring gene centromere protein F

    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. Pez: a novel human cDNA encoding protein tyrosine phosphatase- and ezrin-like domains. Smith AL, et al. Biochem Biophys Res Commun, 1995 Apr 26. PMID 7733990
    2. Effects of overexpression of PTP36, a putative protein tyrosine phosphatase, on cell adhesion, cell growth, and cytoskeletons in HeLa cells. Ogata M, et al. J Biol Chem, 1999 Apr 30. PMID 10212280
    3. Regulation of phosphorylation level and distribution of PTP36, a putative protein tyrosine phosphatase, by cell-substrate adhesion. Ogata M, et al. J Biol Chem, 1999 Jul 16. PMID 10400706
    4. Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis. Russell-Goldman E, et al. Am J Dermatopathol, 2022 Aug 1. PMID 35830698
    5. Crystal structure of human protein tyrosine phosphatase 14 (PTPN14) at 1.65-A resolution. Barr AJ, et al. Proteins, 2006 Jun 1. PMID 16534812

    See all (117) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HPV18 E7 inhibits LATS1 kinase and activates YAP1 by degrading PTPN14.
      Title: HPV18 E7 inhibits LATS1 kinase and activates YAP1 by degrading PTPN14.
    2. PTPN14 aggravates neointimal hyperplasia via boosting PDGFRbeta signaling in smooth muscle cells.
      Title: PTPN14 aggravates neointimal hyperplasia via boosting PDGFRβ signaling in smooth muscle cells.
    3. circPTPN14 promotes renal fibrosis through its interaction with FUBP1 to enhance MYC transcription.
      Title: circPTPN14 promotes renal fibrosis through its interaction with FUBP1 to enhance MYC transcription.
    4. PTPN14 promotes gastric cancer progression by PI3KA/AKT/mTOR pathway.
      Title: PTPN14 promotes gastric cancer progression by PI3KA/AKT/mTOR pathway.
    5. Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis.
      Title: Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis.
    6. Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing.
      Title: Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing.
    7. PTPN14, a target gene of miR-4295, restricts the growth and invasion of osteosarcoma cells through inactivation of YAP1 signalling.
      Title: PTPN14, a target gene of miR-4295, restricts the growth and invasion of osteosarcoma cells through inactivation of YAP1 signalling.
    8. Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk.
      Title: Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk.
    9. PTPN14 acts as a candidate tumor suppressor in prostate cancer and inhibits cell proliferation and invasion through modulating LATS1/YAP signaling.
      Title: PTPN14 acts as a candidate tumor suppressor in prostate cancer and inhibits cell proliferation and invasion through modulating LATS1/YAP signaling.
    10. PTPN14 deficiency alleviates podocyte injury through suppressing inflammation and fibrosis by targeting TRIP6 in diabetic nephropathy.
      Title: PTPN14 deficiency alleviates podocyte injury through suppressing inflammation and fibrosis by targeting TRIP6 in diabetic nephropathy.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    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

    Associated conditions

    Description Tests
    Lymphedema-posterior choanal atresia syndrome
    MedGen: C3150875 OMIM: 613611 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    EBI GWAS Catalog
    A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    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)

    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

    • MGC126803

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone H2AXY142 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein tyrosine phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein tyrosine phosphatase activity, metal-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables receptor tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coregulator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lymphangiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lymphangiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein dephosphorylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of protein export from nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tyrosine-protein phosphatase non-receptor type 14
    Names
    cytoskeletal-associated protein tyrosine phosphatase
    protein-tyrosine phosphatase pez
    NP_005392.2
    XP_016857430.1
    XP_024304527.1
    XP_047282323.1
    XP_047282326.1
    XP_047282330.1
    XP_054193914.1
    XP_054193915.1
    XP_054193916.1
    XP_054193917.1
    XP_054193918.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_028036.1 RefSeqGene

      Range
      5080..207982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005401.5 → NP_005392.2  tyrosine-protein phosphatase non-receptor type 14

      See identical proteins and their annotated locations for NP_005392.2

      Status: REVIEWED

      Source sequence(s)
      AK291641, AL445305, AL603838, AL929236, DA738908
      Consensus CDS
      CCDS1514.1
      UniProtKB/Swiss-Prot
      Q15678, Q5VSI0
      UniProtKB/TrEMBL
      A8K6H6
      Related
      ENSP00000355923.4, ENST00000366956.10
      Conserved Domains (3) summary
      smart00295
      Location:24 → 220
      B41; Band 4.1 homologues
      cd00047
      Location:935 → 1179
      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 ...
      cd13188
      Location:215 → 305
      FERM_C_PTPN14_PTPN21; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor proteins 14 and 21 (PTPN14 and 21)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      214348700..214551602 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001941.2 → XP_016857430.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

      UniProtKB/Swiss-Prot
      Q15678, Q5VSI0
      UniProtKB/TrEMBL
      A8K6H6
      Conserved Domains (3) summary
      smart00295
      Location:24 → 220
      B41; Band 4.1 homologues
      cd00047
      Location:935 → 1179
      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 ...
      cd13188
      Location:215 → 305
      FERM_C_PTPN14_PTPN21; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor proteins 14 and 21 (PTPN14 and 21)

    2. XM_024448759.2 → XP_024304527.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

      UniProtKB/Swiss-Prot
      Q15678, Q5VSI0
      UniProtKB/TrEMBL
      A8K6H6
      Conserved Domains (3) summary
      smart00295
      Location:24 → 220
      B41; Band 4.1 homologues
      cd00047
      Location:935 → 1179
      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 ...
      cd13188
      Location:215 → 305
      FERM_C_PTPN14_PTPN21; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor proteins 14 and 21 (PTPN14 and 21)

    3. XM_047426367.1 → XP_047282323.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

      UniProtKB/Swiss-Prot
      Q15678, Q5VSI0

    4. XM_047426370.1 → XP_047282326.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

      UniProtKB/Swiss-Prot
      Q15678, Q5VSI0

    5. XM_047426374.1 → XP_047282330.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

      UniProtKB/Swiss-Prot
      Q15678, Q5VSI0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      213588194..213791283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337939.1 → XP_054193914.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

      UniProtKB/Swiss-Prot
      Q15678, Q5VSI0

    2. XM_054337941.1 → XP_054193916.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

      UniProtKB/Swiss-Prot
      Q15678, Q5VSI0

    3. XM_054337943.1 → XP_054193918.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

      UniProtKB/Swiss-Prot
      Q15678, Q5VSI0

    4. XM_054337940.1 → XP_054193915.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

      UniProtKB/Swiss-Prot
      Q15678, Q5VSI0

    5. XM_054337942.1 → XP_054193917.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

      UniProtKB/Swiss-Prot
      Q15678, Q5VSI0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15678.2 GenPept UniProtKB/Swiss-Prot:Q15678

    Gene LinkOut

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