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    PMS2P5 PMS1 homolog 2, mismatch repair system component pseudogene 5 [ Homo sapiens (human) ]

    Gene ID: 5383, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PMS2P5provided by HGNC
    Official Full Name
    PMS1 homolog 2, mismatch repair system component pseudogene 5provided by HGNC
    Primary source
    HGNC:HGNC:9130
    See related
    Ensembl:ENSG00000304176 AllianceGenome:HGNC:9130
    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
    PMS7; PMS2L5
    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, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 6.5), skin (RPKM 3.8) and 24 other tissues See more
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    Genomic context

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    See PMS2P5 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (74890768..74921138)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76093073..76123445)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74306887..74336166)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Williams-Beuren syndrome medial block B recombination region Neighboring gene GTF2I repeat domain containing 2 Neighboring gene uncharacterized LOC124901673 Neighboring gene STAG3 cohesin complex component like 2 (pseudogene) Neighboring gene speedy/RINGO cell cycle regulator family member E12 Neighboring gene uncharacterized LOC105375352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18289 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:74387918-74388452 Neighboring gene cytosolic arginine sensor for mTORC1 subunit 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74408133-74408753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74836976-74837481 Neighboring gene RCC1 like

    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. 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
    2. Genomic organization of the human PMS2 gene family. Nicolaides NC, et al. Genomics, 1995 Nov 20. PMID 8586419
    3. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, 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)

    Genotypes

    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 5
    • postmeiotic segregation increased 2-like 5

    Clone Names

    • MGC34222

    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
    		  
    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_027775.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AC211424
      Related
      ENST00000800436.1

    2. NR_027776.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AC211424
      Related
      ENST00000800442.1

    3. NR_027777.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks three internal exons and includes an alternate 3' terminal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AC211424
      Related
      ENST00000800353.1

    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
      74890768..74921138
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      76093073..76123445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_174930.3: Suppressed sequence

      Description
      NM_174930.3: 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
    A8MQ11.2 GenPept UniProtKB/Swiss-Prot:A8MQ11

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials