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    Pms2 PMS1 homolog2, mismatch repair system component [ Mus musculus (house mouse) ]

    Gene ID: 18861, updated on 4-May-2024

    Summary

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    Official Symbol
    Pms2provided by MGI
    Official Full Name
    PMS1 homolog2, mismatch repair system componentprovided by MGI
    Primary source
    MGI:MGI:104288
    See related
    Ensembl:ENSMUSG00000075569 Ensembl:ENSMUSG00000079109 AllianceGenome:MGI:104288
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pmsl2
    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 positive regulation of isotype switching to IgA isotypes; positive regulation of isotype switching to IgG isotypes; and somatic hypermutation of immunoglobulin genes. Acts upstream of or within mismatch repair and somatic recombination of immunoglobulin gene segments. Part of MutLalpha complex. Is expressed in cerebellum; lower urogenital tract; reproductive system; retina; and urethra epithelium. 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 human PMS2 (PMS1 homolog 2, mismatch repair system component). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 3.3), CNS E14 (RPKM 2.6) and 24 other tissues See more
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    Genomic context

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    Location:
    5 82.82 cM; 5 G2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (143846379..143922538)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (143909901..143972745)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA D130017N08 gene Neighboring gene STARR-positive B cell enhancer ABC_E10364 Neighboring gene STARR-positive B cell enhancer ABC_E2182 Neighboring gene eukaryotic translation initiation factor 2 alpha kinase 1 Neighboring gene ankyrin repeat domain 61 Neighboring gene STARR-positive B cell enhancer ABC_E858 Neighboring gene aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 Neighboring gene CCZ1 vacuolar protein trafficking and biogenesis associated Neighboring gene STARR-positive B cell enhancer ABC_E6396 Neighboring gene predicted gene, 24311 Neighboring gene predicted gene, 54312 Neighboring gene predicted gene, 33427

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. van Oers JM, et al. Proc Natl Acad Sci U S A, 2010 Jul 27. PMID 20624957, Free PMC Article
    2. A role for Pms2 in the prevention of tandem CC --> TT substitutions induced by ultraviolet radiation and oxidative stress. Shin-Darlak CY, et al. DNA Repair (Amst), 2005 Jan 2. PMID 15533837
    3. Impact of mismatch repair deficiency on genomic stability in the maternal germline and during early embryonic development. Larson JS, et al. Mutat Res, 2004 Nov 22. PMID 15491631
    4. A:T --> G:C base pair substitutions occur at a higher rate than other substitution events in Pms2 deficient mouse cells. Shin CY, et al. DNA Repair (Amst), 2002 Dec 5. PMID 12531009
    5. Maternal effect for DNA mismatch repair in the mouse. Gurtu VE, et al. Genetics, 2002 Jan. PMID 11805062, Free PMC Article

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification PMS1 and PMS2 as potential meiotic substrates of CDK2 activity.
      Title: Identification PMS1 and PMS2 as potential meiotic substrates of CDK2 activity.
    2. Pms2/Mlh1 and multiple uracil glycosylases act jointly, each one with a distinct strand bias, to enlarge the immunoglobulin gene mutation spectrum from G-C to A-T bases.
      Title: Pms2 and uracil-DNA glycosylases act jointly in the mismatch repair pathway to generate Ig gene mutations at A-T base pairs.
    3. Primary function of Pms2 during spermatogenesis is to stabilize Mlh1 levels prior to its critical crossing over function with Mlh3. An intact Pms2 ATPase domain is not essential for male fertility.
      Title: An intact Pms2 ATPase domain is not essential for male fertility.
    4. Pms2 specifically suppresses large expansions of a pathogenic trinucleotide repeat sequence in neuronal tissues, possibly acting independently of the canonical mismatch repair pathway.
      Title: Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.
    5. Down-regulation of PMS2 is associated with initiation and growth of neuroblastoma and brain tumour multicellular spheroids.
      Title: Down-regulation of DNA mismatch repair enhances initiation and growth of neuroblastoma and brain tumour multicellular spheroids.
    6. the integrity of the MLH1 ATPase domain is more critical than the PMS2 ATPase domain for normal DNA mismatch repair functions
      Title: Conservation of functional asymmetry in the mammalian MutLα ATPase.
    7. Data show that the PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance and tumor suppression.
      Title: PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance.
    8. PMS2(R20Q) lacks proapoptotic activity, this polymorphic allele may modulate tumor responses to cisplatin among cancer patients
      Title: Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20Q.
    9. These results highlight an unprecedented role for MMR in mediating the cellular response to dysfunctional telomeres in vivo by attenuating p21 induction.
      Title: Deficient mismatch repair improves organismal fitness and survival of mice with dysfunctional telomeres.
    10. Data show partial functional redundancy between MLH3 and PMS2 orthologues for mutation avoidance and show a role for Mlh3 in gastrointestinal and extragastrointestinal tumor suppression.
      Title: Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5) 
    • Targeted (4)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    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 endonuclease activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mismatched DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nuclease activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    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 IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within meiotic cell cycle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mismatch repair IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within mismatch repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mismatch repair TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of isotype switching to IgA isotypes IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of isotype switching to IgA isotypes IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of isotype switching to IgG isotypes IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of isotype switching to IgG isotypes IMP
    Inferred from Mutant Phenotype
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in somatic hypermutation of immunoglobulin genes IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within somatic recombination of immunoglobulin gene segments IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MutLalpha complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MutLalpha complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of mismatch repair complex 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
    DNA mismatch repair protein PMS2
    PMS1 protein homolog 2
    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_008886.3 → NP_032912.2  mismatch repair endonuclease PMS2

      See identical proteins and their annotated locations for NP_032912.2

      Status: VALIDATED

      Source sequence(s)
      AC121917
      Consensus CDS
      CCDS39375.1
      UniProtKB/Swiss-Prot
      B9EJ22, P54279
      UniProtKB/TrEMBL
      Q3UJP0
      Related
      ENSMUSP00000119875.2, ENSMUST00000148011.8
      Conserved Domains (4) summary
      smart00853
      Location:675 → 818
      MutL_C; MutL C terminal dimerisation domain
      cd03484
      Location:223 → 364
      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 ...
      TIGR00585
      Location:13 → 344
      mutl; DNA mismatch repair protein MutL
      cl00075
      Location:34 → 139
      HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      143846379..143922538
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036164890.1 → XP_036020783.1  mismatch repair endonuclease PMS2 isoform X13

      UniProtKB/TrEMBL
      A0A1D5RLN8
      Related
      ENSMUSP00000148444.2, ENSMUST00000212711.2
      Conserved Domains (1) summary
      cl23750
      Location:458 → 505
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    2. XM_036164887.1 → XP_036020780.1  mismatch repair endonuclease PMS2 isoform X10

      Conserved Domains (2) summary
      PLN03185
      Location:4 → 98
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:548 → 595
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    3. XM_036164889.1 → XP_036020782.1  mismatch repair endonuclease PMS2 isoform X11

      Conserved Domains (2) summary
      PLN03185
      Location:12 → 80
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:523 → 570
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    4. XM_036164884.1 → XP_036020777.1  mismatch repair endonuclease PMS2 isoform X4

      UniProtKB/Swiss-Prot
      E9PYQ0
      Conserved Domains (2) summary
      PLN03185
      Location:2 → 259
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:650 → 697
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    5. XM_036164880.1 → XP_036020773.1  mismatch repair endonuclease PMS2 isoform X1

      UniProtKB/Swiss-Prot
      E9PYQ0
      Conserved Domains (2) summary
      PLN03185
      Location:106 → 405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:782 → 829
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    6. XM_036164881.1 → XP_036020774.1  mismatch repair endonuclease PMS2 isoform X1

      UniProtKB/Swiss-Prot
      E9PYQ0
      Related
      ENSMUSP00000132687.2, ENSMUST00000166847.8
      Conserved Domains (2) summary
      PLN03185
      Location:106 → 405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:782 → 829
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    7. XM_030254204.2 → XP_030110064.1  mismatch repair endonuclease PMS2 isoform X15

      Conserved Domains (1) summary
      PLN03185
      Location:4 → 98
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    8. XM_017320712.3 → XP_017176201.1  mismatch repair endonuclease PMS2 isoform X12

      Conserved Domains (1) summary
      PLN03185
      Location:4 → 250
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    9. XM_017320710.2 → XP_017176199.1  mismatch repair endonuclease PMS2 isoform X9

      Conserved Domains (2) summary
      COG0323
      Location:4 → 671
      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 ...

    10. XM_006504812.3 → XP_006504875.1  mismatch repair endonuclease PMS2 isoform X9

      See identical proteins and their annotated locations for XP_006504875.1

      Conserved Domains (2) summary
      COG0323
      Location:4 → 671
      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 ...

    11. XM_030254203.2 → XP_030110063.1  mismatch repair endonuclease PMS2 isoform X14

      Conserved Domains (1) summary
      COG0323
      Location:201 → 493
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]

    12. XM_036164879.1 → XP_036020772.1  mismatch repair endonuclease PMS2 isoform X1

      UniProtKB/Swiss-Prot
      E9PYQ0
      Conserved Domains (2) summary
      PLN03185
      Location:106 → 405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:782 → 829
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    13. XM_036164885.1 → XP_036020778.1  mismatch repair endonuclease PMS2 isoform X5

      UniProtKB/Swiss-Prot
      E9PYQ0
      Conserved Domains (1) summary
      PLN03185
      Location:106 → 405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    14. XM_036164882.1 → XP_036020775.1  mismatch repair endonuclease PMS2 isoform X2

      UniProtKB/Swiss-Prot
      E9PYQ0
      Conserved Domains (2) summary
      PLN03185
      Location:86 → 262
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:724 → 771
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    15. XM_036164883.1 → XP_036020776.1  mismatch repair endonuclease PMS2 isoform X3

      UniProtKB/Swiss-Prot
      E9PYQ0
      Conserved Domains (1) summary
      PLN03185
      Location:106 → 405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    16. XM_036164886.1 → XP_036020779.1  mismatch repair endonuclease PMS2 isoform X6

      UniProtKB/Swiss-Prot
      E9PYQ0
      Conserved Domains (1) summary
      PLN03185
      Location:106 → 405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    17. XM_030254201.1 → XP_030110061.1  mismatch repair endonuclease PMS2 isoform X7

      Conserved Domains (1) summary
      PLN03185
      Location:106 → 405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    18. XM_030254202.1 → XP_030110062.1  mismatch repair endonuclease PMS2 isoform X8

      Conserved Domains (1) summary
      PLN03185
      Location:106 → 405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    19. XM_036164888.1 → XP_036020781.1  mismatch repair endonuclease PMS2 isoform X10

      Conserved Domains (2) summary
      PLN03185
      Location:4 → 98
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:548 → 595
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    RNA

    1. XR_004942443.1 RNA Sequence

    2. XR_003955592.2 RNA Sequence

    3. XR_001784634.2 RNA Sequence

    4. XR_377191.4 RNA Sequence

    5. XR_004942449.1 RNA Sequence

    6. XR_001784637.2 RNA Sequence

    7. XR_001784636.2 RNA Sequence

    8. XR_004942454.1 RNA Sequence

    9. XR_004942453.1 RNA Sequence

    10. XR_004942446.1 RNA Sequence

    11. XR_003955596.2 RNA Sequence

    12. XR_003955594.2 RNA Sequence

    13. XR_004942447.1 RNA Sequence

    14. XR_003955593.2 RNA Sequence

    15. XR_004942448.1 RNA Sequence

    16. XR_004942444.1 RNA Sequence

    17. XR_004942445.1 RNA Sequence

    18. XR_004942450.1 RNA Sequence

    19. XR_004942451.1 RNA Sequence

    20. XR_004942452.1 RNA Sequence

    21. XR_003955595.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P54279.2 GenPept UniProtKB/Swiss-Prot:P54279

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