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

Gene ID: 18861, updated on 5-Jan-2023

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 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

See Pms2 in Genome Data Viewer
Location:
5 82.82 cM; 5 G2
Exon count:
35
Annotation release Status Assembly Chr Location
109 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 eukaryotic translation initiation factor 2 alpha kinase 1 Neighboring gene ankyrin repeat domain 61 Neighboring gene aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 Neighboring gene CCZ1 vacuolar protein trafficking and biogenesis associated 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)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (3) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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 repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cellular response to DNA damage stimulus IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within cellular response to DNA damage stimulus 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
PubMed 
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
PubMed 
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
PubMed 
part_of MutLalpha complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic ribonucleoprotein granule ISO
Inferred from Sequence Orthology
more info
 
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
 
located_in plasma membrane 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
    UniProtKB/TrEMBL
    B9EJ22
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    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

    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

    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

    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

    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

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

    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

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

    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