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    PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 [ Homo sapiens (human) ]

    Gene ID: 9050, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PSTPIP2provided by HGNC
    Official Full Name
    proline-serine-threonine phosphatase interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:9581
    See related
    Ensembl:ENSG00000152229 MIM:616046; AllianceGenome:HGNC:9581
    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
    MAYP
    Summary
    Predicted to enable actin filament binding activity. Predicted to be involved in actin filament polymerization. Predicted to be located in cytoskeleton and membrane. Predicted to be active in actin filament; cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in bone marrow (RPKM 28.6), spleen (RPKM 27.4) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    18q21.1; tdb7990
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (45983536..46072260, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (46174497..46263221, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (43563502..43652226, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372093 Neighboring gene solute carrier family 14 member 1 (Kidd blood group) Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:43386185-43386686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43408730-43409428 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43418307-43418808 Neighboring gene sialic acid binding Ig like lectin 15 Neighboring gene ectopic P-granules 5 autophagy tethering factor Neighboring gene Sharpr-MPRA regulatory region 10800 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:43478156-43479355 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:43530707-43531906 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:43547054-43547555 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:43557301-43557872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13264 Neighboring gene RN7SK pseudogene 26 Neighboring gene UTP18, small subunit (SSU) processome component, homolog (yeast) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43652131-43652632 Neighboring gene tRNA-Lys (CTT) 6-1 Neighboring gene RNY4 pseudogene 37 Neighboring gene ATP synthase F1 subunit alpha

    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. PSTPIP2 inhibits cisplatin-induced acute kidney injury by suppressing apoptosis of renal tubular epithelial cells. Zhu H, et al. Cell Death Dis, 2020 Dec 12. PMID 33311489, Free PMC Article
    2. Genome-Wide Analysis of DNA Methylation and Antituberculosis Drug-Induced Liver Injury in the Han Chinese Population. Huai C, et al. Clin Pharmacol Ther, 2019 Dec. PMID 31247120
    3. Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes. Hurtado-Nedelec M, et al. J Rheumatol, 2010 Feb. PMID 20032092
    4. A novel macrophage actin-associated protein (MAYP) is tyrosine-phosphorylated following colony stimulating factor-1 stimulation. Yeung YG, et al. J Biol Chem, 1998 Nov 13. PMID 9804836
    5. PSTPIP2 dysregulation contributes to aberrant terminal differentiation in GATA-1-deficient megakaryocytes by activating LYN. Liu L, et al. Cell Death Dis, 2014 Jan 9. PMID 24407241, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PSTPIP2 is associated with disease severity in patients with pressure ulcer sepsis and has anti-inflammatory effects.
      Title: PSTPIP2 is associated with disease severity in patients with pressure ulcer sepsis and has anti-inflammatory effects.
    2. PSTPIP2 inhibits cisplatin-induced acute kidney injury by suppressing apoptosis of renal tubular epithelial cells.
      Title: PSTPIP2 inhibits cisplatin-induced acute kidney injury by suppressing apoptosis of renal tubular epithelial cells.
    3. Methylation on PSTPIP2 is associated with the development of anti-tuberculosis drug-induced liver injury.
      Title: Genome-Wide Analysis of DNA Methylation and Antituberculosis Drug-Induced Liver Injury in the Han Chinese Population.
    4. PSTPIP2 dysregulation contributes to aberrant terminal differentiation in GATA-1-deficient megakaryocytes by activating LYN.
      Title: PSTPIP2 dysregulation contributes to aberrant terminal differentiation in GATA-1-deficient megakaryocytes by activating LYN.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC34175

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    proline-serine-threonine phosphatase-interacting protein 2
    Names
    PEST phosphatase-interacting protein 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_024430.4 → NP_077748.3  proline-serine-threonine phosphatase-interacting protein 2

      See identical proteins and their annotated locations for NP_077748.3

      Status: VALIDATED

      Source sequence(s)
      AC090355, BC035395, BP352927, DA943980
      Consensus CDS
      CCDS32820.2
      UniProtKB/Swiss-Prot
      Q9H939
      UniProtKB/TrEMBL
      A0A0S2Z4R2, A0A0S2Z505
      Related
      ENSP00000387261.4, ENST00000409746.5
      Conserved Domains (1) summary
      cd07672
      Location:15 → 254
      F-BAR_PSTPIP2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 2

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      45983536..46072260 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      46174497..46263221 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H939.4 GenPept UniProtKB/Swiss-Prot:Q9H939

    Gene LinkOut

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

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