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

    Gene ID: 18861, updated on 9-Dec-2024

    Summary

    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 several human genes including PMS2 (PMS1 homolog 2, mismatch repair system component). [provided by Alliance of Genome Resources, Dec 2024]
    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

    See Pms2 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent DNA damage sensor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables MutSalpha complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to MutSalpha complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables endonuclease activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables single base insertion or deletion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables single base insertion or deletion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables single-stranded DNA binding IEA
    Inferred from Electronic Annotation
    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 
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    involved_in mismatch repair ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    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 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

    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_008886.3NP_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:675818
      MutL_C; MutL C terminal dimerisation domain
      cd03484
      Location:223364
      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:13344
      mutl; DNA mismatch repair protein MutL
      cl00075
      Location:34139
      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_036164890.1XP_036020783.1  mismatch repair endonuclease PMS2 isoform X13

      UniProtKB/TrEMBL
      A0A1D5RLN8
      Related
      ENSMUSP00000148444.2, ENSMUST00000212711.2
      Conserved Domains (1) summary
      cl23750
      Location:458505
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
    2. XM_036164887.1XP_036020780.1  mismatch repair endonuclease PMS2 isoform X10

      Conserved Domains (2) summary
      PLN03185
      Location:498
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:548595
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
    3. XM_036164889.1XP_036020782.1  mismatch repair endonuclease PMS2 isoform X11

      Conserved Domains (2) summary
      PLN03185
      Location:1280
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:523570
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
    4. XM_036164884.1XP_036020777.1  mismatch repair endonuclease PMS2 isoform X4

      UniProtKB/Swiss-Prot
      E9PYQ0
      Conserved Domains (2) summary
      PLN03185
      Location:2259
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:650697
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
    5. XM_036164880.1XP_036020773.1  mismatch repair endonuclease PMS2 isoform X1

      UniProtKB/Swiss-Prot
      E9PYQ0
      Conserved Domains (2) summary
      PLN03185
      Location:106405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:782829
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
    6. XM_036164881.1XP_036020774.1  mismatch repair endonuclease PMS2 isoform X1

      UniProtKB/Swiss-Prot
      E9PYQ0
      Related
      ENSMUSP00000132687.2, ENSMUST00000166847.8
      Conserved Domains (2) summary
      PLN03185
      Location:106405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:782829
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
    7. XM_030254204.2XP_030110064.1  mismatch repair endonuclease PMS2 isoform X15

      Conserved Domains (1) summary
      PLN03185
      Location:498
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
    8. XM_017320712.3XP_017176201.1  mismatch repair endonuclease PMS2 isoform X12

      Conserved Domains (1) summary
      PLN03185
      Location:4250
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
    9. XM_017320710.2XP_017176199.1  mismatch repair endonuclease PMS2 isoform X9

      Conserved Domains (2) summary
      COG0323
      Location:4671
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
      cd03484
      Location:40181
      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_006504812.3XP_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:4671
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
      cd03484
      Location:40181
      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_030254203.2XP_030110063.1  mismatch repair endonuclease PMS2 isoform X14

      Conserved Domains (1) summary
      COG0323
      Location:201493
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    12. XM_036164879.1XP_036020772.1  mismatch repair endonuclease PMS2 isoform X1

      UniProtKB/Swiss-Prot
      E9PYQ0
      Conserved Domains (2) summary
      PLN03185
      Location:106405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:782829
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
    13. XM_036164885.1XP_036020778.1  mismatch repair endonuclease PMS2 isoform X5

      UniProtKB/Swiss-Prot
      E9PYQ0
      Conserved Domains (1) summary
      PLN03185
      Location:106405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
    14. XM_036164882.1XP_036020775.1  mismatch repair endonuclease PMS2 isoform X2

      UniProtKB/Swiss-Prot
      E9PYQ0
      Conserved Domains (2) summary
      PLN03185
      Location:86262
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:724771
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
    15. XM_036164883.1XP_036020776.1  mismatch repair endonuclease PMS2 isoform X3

      UniProtKB/Swiss-Prot
      E9PYQ0
      Conserved Domains (1) summary
      PLN03185
      Location:106405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
    16. XM_036164886.1XP_036020779.1  mismatch repair endonuclease PMS2 isoform X6

      UniProtKB/Swiss-Prot
      E9PYQ0
      Conserved Domains (1) summary
      PLN03185
      Location:106405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
    17. XM_030254201.1XP_030110061.1  mismatch repair endonuclease PMS2 isoform X7

      Conserved Domains (1) summary
      PLN03185
      Location:106405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
    18. XM_030254202.1XP_030110062.1  mismatch repair endonuclease PMS2 isoform X8

      Conserved Domains (1) summary
      PLN03185
      Location:106405
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
    19. XM_036164888.1XP_036020781.1  mismatch repair endonuclease PMS2 isoform X10

      Conserved Domains (2) summary
      PLN03185
      Location:498
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl23750
      Location:548595
      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