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    PTPN21 protein tyrosine phosphatase non-receptor type 21 [ Homo sapiens (human) ]

    Gene ID: 11099, updated on 14-Nov-2024

    Summary

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    Official Symbol
    PTPN21provided by HGNC
    Official Full Name
    protein tyrosine phosphatase non-receptor type 21provided by HGNC
    Primary source
    HGNC:HGNC:9651
    See related
    Ensembl:ENSG00000070778 MIM:603271; AllianceGenome:HGNC:9651
    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
    PTPD1; PTPRL10
    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 domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in thyroid (RPKM 8.6), lung (RPKM 8.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PTPN21 in Genome Data Viewer
    Location:
    14q31.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (88465778..88555007, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (82686590..82775829, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (88932122..89021351, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8835 Neighboring gene KCNK10 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5989 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_38654 Neighboring gene Sharpr-MPRA regulatory region 1231 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:88685623-88685838 Neighboring gene potassium two pore domain channel subfamily K member 10 Neighboring gene Sharpr-MPRA regulatory region 1180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:88788959-88789618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:88792556-88793070 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:88830965-88831772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8840 Neighboring gene spermatogenesis associated 7 Neighboring gene NANOG hESC enhancer GRCh37_chr14:88948745-88949275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8841 Neighboring gene uncharacterized LOC105370614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:89015655-89016472 Neighboring gene RNA, U4 small nuclear 22, pseudogene Neighboring gene proline-rich protein 2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8842 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:89084698-89085319 Neighboring gene zinc finger CCCH-type containing 14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8843 Neighboring gene EMAP like 5 Neighboring gene MPRA-validated peak2226 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5994 Neighboring gene RNA, U4 small nuclear 92, 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 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. Overexpression of PTPN21 promotes proliferation of EGF-stimulated acute lymphoblastic leukemia cells via the MAPK signaling pathways. Zhu N, et al. Hematology, 2024 Dec. PMID 38785187
    2. Two non-synonymous markers in PTPN21, identified by genome-wide association study data-mining and replication, are associated with schizophrenia. Chen J, et al. Schizophr Res, 2011 Sep. PMID 21752600, Free PMC Article
    3. Expression of protein tyrosine phosphatase PTP-RL10 and its isoform in the mouse testis. Tokuchi H, et al. Int J Urol, 1999 Nov. PMID 10585123
    4. Molecular Analysis of the Interaction between Human PTPN21 and the Oncoprotein E7 from Human Papillomavirus Genotype 18. Lee HS, et al. Mol Cells, 2021 Jan 31. PMID 33431714, Free PMC Article
    5. PTPN21-CDS(long) isoform inhibits the response of acute lymphoblastic leukemia cells to NK-mediated lysis via the KIR/HLA-I axis. Wang H, et al. J Cell Biochem, 2020 Jun. PMID 31898344

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of PTPN21 promotes proliferation of EGF-stimulated acute lymphoblastic leukemia cells via the MAPK signaling pathways.
      Title: Overexpression of PTPN21 promotes proliferation of EGF-stimulated acute lymphoblastic leukemia cells via the MAPK signaling pathways.
    2. Molecular Analysis of the Interaction between Human PTPN21 and the Oncoprotein E7 from Human Papillomavirus Genotype 18.
      Title: Molecular Analysis of the Interaction between Human PTPN21 and the Oncoprotein E7 from Human Papillomavirus Genotype 18.
    3. PTPN21-CDSlong isoform inhibits the response of acute lymphoblastic leukemia cells to NK-mediated lysis via the KIR/HLA-I axis.
      Title: PTPN21-CDS(long) isoform inhibits the response of acute lymphoblastic leukemia cells to NK-mediated lysis via the KIR/HLA-I axis.
    4. Study demonstrates that PTPN21 activates KIF1C by binding to the stalk region. This function does not require catalytic activity of the phosphatase, and its N-terminal FERM domain alone is sufficient to stimulate the transport of KIF1C cargoes in cells as well as increasing the landing rate of KIF1C on microtubules in vitro. The cargo adapter Hook3 binds KIF1C in the same region and activates KIF1C in a similar way.
      Title: PTPN21 and Hook3 relieve KIF1C autoinhibition and activate intracellular transport.
    5. Presented data suggest that the transient formation of dynamic PTPD1/EGFR signalling complexes strengthens EGF signalling by promoting the spatial propagation of EGFR phosphorylated species
      Title: Dynamic recruitment of protein tyrosine phosphatase PTPD1 to EGF stimulation sites potentiates EGFR activation.
    6. The results that 2 non-synonymous markers in PTPN21 are associated with schizophrenia, further investigation of this locus is warranted.
      Title: Two non-synonymous markers in PTPN21, identified by genome-wide association study data-mining and replication, are associated with schizophrenia.
    7. PTPD1 is a novel component of the endocytic machinery that impacts on EGF receptor stability and on growth and motility of bladder cancer cells
      Title: PTPD1 supports receptor stability and mitogenic signaling in bladder cancer cells.
    8. In colorectal tumors, microsatellite repeats mutation rates are higher than the mean mutation frequency; the highest mutation frequency among 16 PTP genes
      Title: Frameshift mutations in coding repeats of protein tyrosine phosphatase genes in colorectal tumors with microsatellite instability.
    9. PTPD1 is a component of a multivalent scaffold complex nucleated by FAK at specific intracellular sites
      Title: Protein-tyrosine phosphatase PTPD1 regulates focal adhesion kinase autophosphorylation and cell migration.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Frameshift mutations in coding repeats of protein tyrosine phosphatase genes in colorectal tumors with microsatellite instability.
    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

    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, metal-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    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 cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tyrosine-protein phosphatase non-receptor type 21
    Names
    dJ1175B15.2 (protein tyrosine phosphatase, non-receptor type 21)
    protein-tyrosine phosphatase D1
    NP_008970.2
    XP_005267344.1
    XP_011534669.1
    XP_011534670.1
    XP_016876428.1
    XP_054231261.1
    XP_054231262.1
    XP_054231263.1
    XP_054231264.1

    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.

    Genomic

    1. NG_046949.1 RefSeqGene

      Range
      4773..94002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007039.4 → NP_008970.2  tyrosine-protein phosphatase non-receptor type 21

      See identical proteins and their annotated locations for NP_008970.2

      Status: REVIEWED

      Source sequence(s)
      AL049834, AL162171, BM930068, DA860560, X79510
      Consensus CDS
      CCDS9884.1
      UniProtKB/Swiss-Prot
      Q16825
      UniProtKB/TrEMBL
      Q8WX29
      Related
      ENSP00000452414.1, ENST00000556564.6
      Conserved Domains (6) summary
      smart00194
      Location:896 → 1166
      PTPc; Protein tyrosine phosphatase, catalytic domain
      smart00295
      Location:24 → 222
      B41; Band 4.1 homologues
      cd00047
      Location:923 → 1166
      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:217 → 307
      FERM_C_PTPN14_PTPN21; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor proteins 14 and 21 (PTPN14 and 21)
      pfam00373
      Location:109 → 220
      FERM_M; FERM central domain
      pfam09379
      Location:27 → 90
      FERM_N; FERM N-terminal domain

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      88465778..88555007 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267287.4 → XP_005267344.1  tyrosine-protein phosphatase non-receptor type 21 isoform X1

      See identical proteins and their annotated locations for XP_005267344.1

      UniProtKB/Swiss-Prot
      Q16825
      UniProtKB/TrEMBL
      Q8WX29
      Related
      ENSP00000330276.3, ENST00000328736.7
      Conserved Domains (6) summary
      smart00194
      Location:896 → 1166
      PTPc; Protein tyrosine phosphatase, catalytic domain
      smart00295
      Location:24 → 222
      B41; Band 4.1 homologues
      cd00047
      Location:923 → 1166
      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:217 → 307
      FERM_C_PTPN14_PTPN21; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor proteins 14 and 21 (PTPN14 and 21)
      pfam00373
      Location:109 → 220
      FERM_M; FERM central domain
      pfam09379
      Location:27 → 90
      FERM_N; FERM N-terminal domain

    2. XM_011536367.4 → XP_011534669.1  tyrosine-protein phosphatase non-receptor type 21 isoform X1

      See identical proteins and their annotated locations for XP_011534669.1

      UniProtKB/Swiss-Prot
      Q16825
      UniProtKB/TrEMBL
      Q8WX29
      Conserved Domains (6) summary
      smart00194
      Location:896 → 1166
      PTPc; Protein tyrosine phosphatase, catalytic domain
      smart00295
      Location:24 → 222
      B41; Band 4.1 homologues
      cd00047
      Location:923 → 1166
      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:217 → 307
      FERM_C_PTPN14_PTPN21; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor proteins 14 and 21 (PTPN14 and 21)
      pfam00373
      Location:109 → 220
      FERM_M; FERM central domain
      pfam09379
      Location:27 → 90
      FERM_N; FERM N-terminal domain

    3. XM_011536368.3 → XP_011534670.1  tyrosine-protein phosphatase non-receptor type 21 isoform X2

      See identical proteins and their annotated locations for XP_011534670.1

      UniProtKB/TrEMBL
      Q8WX29
      Conserved Domains (4) summary
      smart00194
      Location:773 → 1043
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:800 → 1043
      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:94 → 184
      FERM_C_PTPN14_PTPN21; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor proteins 14 and 21 (PTPN14 and 21)
      pfam00373
      Location:27 → 97
      FERM_M; FERM central domain

    4. XM_017020939.2 → XP_016876428.1  tyrosine-protein phosphatase non-receptor type 21 isoform X3

      UniProtKB/TrEMBL
      Q8WX29
      Conserved Domains (3) summary
      smart00194
      Location:692 → 962
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:719 → 962
      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:13 → 103
      FERM_C_PTPN14_PTPN21; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor proteins 14 and 21 (PTPN14 and 21)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      82686590..82775829 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375286.1 → XP_054231261.1  tyrosine-protein phosphatase non-receptor type 21 isoform X1

      UniProtKB/Swiss-Prot
      Q16825

    2. XM_054375287.1 → XP_054231262.1  tyrosine-protein phosphatase non-receptor type 21 isoform X1

      UniProtKB/Swiss-Prot
      Q16825

    3. XM_054375288.1 → XP_054231263.1  tyrosine-protein phosphatase non-receptor type 21 isoform X2

    4. XM_054375289.1 → XP_054231264.1  tyrosine-protein phosphatase non-receptor type 21 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16825.2 GenPept UniProtKB/Swiss-Prot:Q16825

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