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    Pms2 PMS1 homolog 2, mismatch repair system component [ Rattus norvegicus (Norway rat) ]

    Gene ID: 288479, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Pms2provided by RGD
    Official Full Name
    PMS1 homolog 2, mismatch repair system componentprovided by RGD
    Primary source
    RGD:1305483
    See related
    EnsemblRapid:ENSRNOG00000001040 AllianceGenome:RGD:1305483
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable ATP hydrolysis activity and single base insertion or deletion binding activity. Predicted to contribute to MutSalpha complex binding activity and single-stranded DNA binding activity. Involved in response to xenobiotic stimulus. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of MutLalpha complex. Human ortholog(s) of this gene implicated in Lynch syndrome; hereditary nonpolyposis colorectal cancer type 4; mismatch repair cancer syndrome; ovarian cancer; and urinary bladder cancer. Orthologous to several human genes including PMS2 (PMS1 homolog 2, mismatch repair system component). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Thymus (RPKM 72.0), Spleen (RPKM 63.9) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pms2 in Genome Data Viewer
    Location:
    12p11
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 12 NC_086030.1 (15790478..15814790, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 12 NC_051347.1 (10676818..10701161, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 12 NC_005111.4 (12714394..12738654, complement)

    Chromosome 12 - NC_086030.1Genomic Context describing neighboring genes Neighboring gene CCZ1 homolog, vacuolar protein trafficking and biogenesis associated Neighboring gene radial spoke head 10 homolog B Neighboring gene small nucleolar RNA SNORA51 Neighboring gene aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 Neighboring gene eukaryotic translation initiation factor 2 alpha kinase 1 Neighboring gene ankyrin repeat domain 61

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. The elevated expression of a mismatch repair protein is a predictor for biochemical recurrence after radical prostatectomy. Norris AM, et al. Cancer Epidemiol Biomarkers Prev, 2009 Jan. PMID 19124481, Free PMC Article
    2. Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. Borràs E, et al. J Med Genet, 2013 Aug. PMID 23709753
    3. Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. De Rosa M, et al. Oncogene, 2000 Mar 23. PMID 10763829
    4. The expression of mismatched repair genes and their correlation with clinicopathological parameters and response to neo-adjuvant chemotherapy in breast cancer. Chintamani, et al. Int Semin Surg Oncol, 2007 Feb 14. PMID 17394628, Free PMC Article
    5. Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Hendriks YM, et al. Gastroenterology, 2006 Feb. PMID 16472587

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP-dependent DNA damage sensor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    contributes_to MutSalpha complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables single base insertion or deletion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    contributes_to single-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within DNA repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mismatch repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mismatch repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of isotype switching to IgA isotypes ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of isotype switching to IgG isotypes ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to xenobiotic stimulus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in somatic hypermutation of immunoglobulin genes IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within somatic hypermutation of immunoglobulin genes ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in somatic hypermutation of immunoglobulin genes ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within somatic recombination of immunoglobulin gene segments ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of MutLalpha complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MutLalpha complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    mismatch repair endonuclease PMS2
    Names
    PMS2 postmeiotic segregation increased 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_001105908.1 → NP_001099378.1  mismatch repair endonuclease PMS2 isoform 2

      See identical proteins and their annotated locations for NP_001099378.1

      Status: PROVISIONAL

      Source sequence(s)
      CH474012
      UniProtKB/TrEMBL
      A6K1J3
      Conserved Domains (2) summary
      smart00853
      Location:358 → 501
      MutL_C; MutL C terminal dimerisation domain
      cl02783
      Location:1 → 53
      TopoII_MutL_Trans; MutL_Trans: transducer domain, having a ribosomal S5 domain 2-like fold, conserved in the C-terminal domain of type II DNA topoisomerases (Topo II) and DNA mismatch repair (MutL/MLH1/PMS2) proteins. This transducer domain is homologous to the second ...

    2. NM_001399795.1 → NP_001386724.1  mismatch repair endonuclease PMS2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000012
      UniProtKB/TrEMBL
      B1H246
      Related
      ENSRNOP00000069740.3, ENSRNOT00000078603.4

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086030.1 Reference GRCr8

      Range
      15790478..15814790 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039089178.2 → XP_038945106.1  mismatch repair endonuclease PMS2 isoform X1

      Conserved Domains (2) summary
      COG0323
      Location:4 → 665
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
      cd03484
      Location:40 → 181
      MutL_Trans_hPMS_2_like; MutL_Trans_hPMS2_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM2 (hPSM2). hPSM2 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second ...

    2. XM_017598288.3 → XP_017453777.1  mismatch repair endonuclease PMS2 isoform X1

      Conserved Domains (2) summary
      COG0323
      Location:4 → 665
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
      cd03484
      Location:40 → 181
      MutL_Trans_hPMS_2_like; MutL_Trans_hPMS2_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM2 (hPSM2). hPSM2 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second ...

    3. XM_039089179.2 → XP_038945107.1  mismatch repair endonuclease PMS2 isoform X2

      Conserved Domains (1) summary
      TIGR00585
      Location:13 → 344
      mutl; DNA mismatch repair protein MutL

    RNA

    1. XR_010056366.1 RNA Sequence

      Related
      ENSRNOT00000067021.4

    2. XR_005491607.2 RNA Sequence

    3. XR_005491606.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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