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    PMS2P1 PMS1 homolog 2, mismatch repair system component pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 5379, updated on 27-Dec-2024

    Summary

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    Official Symbol
    PMS2P1provided by HGNC
    Official Full Name
    PMS1 homolog 2, mismatch repair system component pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:9123
    See related
    Ensembl:ENSG00000291178 MIM:605038; AllianceGenome:HGNC:9123
    Gene type
    pseudo
    RefSeq status
    PROVISIONAL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PMS3; PMS8; PMSR1; PMSR2; PMS2L1; PMS2L6; PMS2L7; PMS2L8; PMS2L13
    Summary
    Predicted to enable ATP hydrolysis activity; ATP-dependent DNA damage sensor activity; and kinase 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 lymph node (RPKM 11.1), testis (RPKM 10.2) and 25 other tissues See more
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    Genomic context

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    See PMS2P1 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100320640..100336307, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101560726..101576392, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99918263..99933930, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene STAG3 cohesin complex component Neighboring gene CASTOR family member 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26352 Neighboring gene PVR related immunoglobulin domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26353 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99844389-99845186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99845985-99846781 Neighboring gene uncharacterized LOC105375426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99866902-99867424 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99867949-99868470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18429 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:99886514-99886677 Neighboring gene STAG3L5P-PVRIG2P-PILRB readthrough Neighboring gene speedy/RINGO cell cycle regulator family member E3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:99932790-99933668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26355 Neighboring gene STAG3 cohesin complex component like 5, pseudogene Neighboring gene PVR related immunoglobulin domain containing 2, pseudogene Neighboring gene microRNA 6840

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. De Vos M, et al. Am J Hum Genet, 2004 May. PMID 15077197, Free PMC Article
    2. 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
    3. 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
    4. Genomic organization of the human PMS2 gene family. Nicolaides NC, et al. Genomics, 1995 Nov 20. PMID 8586419
    5. USP40 deubiquitinates HINT1 and stabilizes p53 in podocyte damage. Takahashi S, et al. Biochem Biophys Res Commun, 2022 Jul 23. PMID 35605301

    See all (11) 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 1
    • postmeiotic segregation increased 2-like 1 pseudogene
    • postmeiotic segregation increased 2-like 5
    • postmeiotic segregation increased 2-like 6
    • postmeiotic segregation increased 2-like 7
    • postmeiotic segregation increased 2-like 8

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent DNA damage sensor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in mismatch repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of mismatch repair complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    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_003613.1 RNA Sequence

      Status: PROVISIONAL

      Source sequence(s)
      AB017004, DA706474
      Related
      ENST00000689817.2

    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
      100320640..100336307 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101560726..101576392 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_005394.1: Suppressed sequence

      Description
      NM_005394.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A4D2B8.1 GenPept UniProtKB/Swiss-Prot:A4D2B8

    Gene LinkOut

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