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    PMS2P2 PMS1 homolog 2, mismatch repair system component pseudogene 2 [ Homo sapiens (human) ]

    Gene ID: 5380, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PMS2P2provided by HGNC
    Official Full Name
    PMS1 homolog 2, mismatch repair system component pseudogene 2provided by HGNC
    Primary source
    HGNC:HGNC:9127
    See related
    Ensembl:ENSG00000310537 AllianceGenome:HGNC:9127
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PMS4; PMS2L2
    Summary
    Predicted to enable ATP hydrolysis activity and ATP-dependent DNA damage sensor activity. Predicted to be involved in mismatch repair. Predicted to be part of mismatch repair complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 15.1), lymph node (RPKM 8.1) and 24 other tissues See more
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    Genomic context

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    See PMS2P2 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75343937..75358997, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76631162..76646248, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74973159..74988251, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene speedy/RINGO cell cycle regulator family member E14 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 13 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 10 Neighboring gene speedy/RINGO cell cycle regulator family member E15 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:74987999-74988519 Neighboring gene uncharacterized LOC124901677 Neighboring gene STAG3 cohesin complex component like 1 (pseudogene) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75024300-75024907 Neighboring gene FKBP6 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. The human PMS2L proteins do not interact with hMLH1, a major DNA mismatch repair protein. Kondo E, et al. J Biochem, 1999 Apr. PMID 10101297
    2. Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes. Horii A, et al. Biochem Biophys Res Commun, 1994 Nov 15. PMID 7980603
    3. Genomic organization of the human PMS2 gene family. Nicolaides NC, et al. Genomics, 1995 Nov 20. PMID 8586419
    4. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
    5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • postmeiotic segregation increased 2 pseudogene 2
    • postmeiotic segregation increased 2-like 2 pseudogene

    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.

    RNA

    1. NR_003614.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA282042, AA418026, DA215155, DA735387
      Related
      ENST00000845812.1

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      75343937..75358997 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      76631162..76646248 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_006452.1: Suppressed sequence

      Description
      NG_006452.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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