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    PMS2P4 PMS1 homolog 2, mismatch repair system component pseudogene 4 [ Homo sapiens (human) ]

    Gene ID: 5382, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PMS2P4provided by HGNC
    Official Full Name
    PMS1 homolog 2, mismatch repair system component pseudogene 4provided by HGNC
    Primary source
    HGNC:HGNC:9129
    See related
    Ensembl:ENSG00000291154 AllianceGenome:HGNC:9129
    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
    PMS6; PMS2L4
    Expression
    Ubiquitous expression in kidney (RPKM 5.0), thyroid (RPKM 4.0) and 24 other tissues See more
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    Genomic context

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    See PMS2P4 in Genome Data Viewer
    Location:
    7q11.21
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (67276131..67302442, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (68495860..68522177, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (66741118..66767429, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene tRNA-yW synthesizing protein 1 homolog Neighboring gene uncharacterized LOC124901666 Neighboring gene Sharpr-MPRA regulatory region 9636 Neighboring gene MPRA-validated peak6550 silencer Neighboring gene uncharacterized LOC124901665 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:66705704-66706246 Neighboring gene speedy/RINGO cell cycle regulator family member E21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18220 Neighboring gene STAG3 cohesin complex component like 4 (pseudogene) Neighboring gene long intergenic non-protein coding RNA 1372

    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. Human PMS2 gene family: origin, molecular evolution, and biological implications. Shpakovskii DG, et al. Dokl Biochem Biophys, 2006 May-Jun. PMID 16913423
    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. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (6) 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)

    General gene information

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    Markers

    Other Names

    • PMS2 pseudogene
    • postmeiotic segregation increased 2 pseudogene 4
    • postmeiotic segregation increased 2-like 4 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_022007.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3'-most exon compared to variant 1.
      Source sequence(s)
      BC029368, DA885243
      Related
      ENST00000828570.1

    2. NR_046297.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      BC029368, BC038841, DA885243
      Related
      ENST00000414507.5

    3. NR_046299.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3'-most exon compared to variant 1.
      Source sequence(s)
      BC029368, CB141754, DA885243

    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
      67276131..67302442 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      68495860..68522177 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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