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Pms2
Gene Detail
Symbol

Name
ID
Pms2
postmeiotic segregation increased 2 (S. cerevisiae)
MGI:104288
Synonyms
DNA mismatch repair, mismatch repair
Feature Type
protein coding gene
Genetic Map
Chromosome 5
82.82 cM, cytoband G2
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr5:143909964-143937309 bp, + strand
From VEGA annotation of GRCm38

  27346 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:133560  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: DNA mismatch repair protein
Gene Tree: Pms2

Human
homologs
Human Homolog PMS2, PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
NCBI Gene ID 5395
neXtProt AC  NX_P54278
Human Synonyms  HNPCC4, PMS2CL, PMSL2
Human Chr (Location)  7p22.2; chr7:5973239-6009106 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human PMS2
Mutations,
alleles, and
phenotypes
All mutations/alleles(19) : Gene trapped(13) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted null mutations exhibit microsatellite instability and develop a high incidence of lymphomas with some sarcomas after 6 months of age. Mutant males are sterile, with impaired synapsis and only abnormal spermatozoa.
 
Interactions
Pms2 interacts with 259 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (28 annotations)
Process ATP catabolic process, cellular response to DNA damage stimulus, ...
Component cytoplasm, microtubule cytoskeleton, ...
Function ATPase activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (8)    Tissues (5)    Images (6)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 8
cDNA source data(64)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(68) Genomic(1) cDNA(67)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000025502 (Evidence)
Ensembl Gene ModelENSMUSG00000079109 (Evidence)
Entrez Gene18861 (Evidence)
UniGene2950
DFCITC1634539, TC1611884, TC1579906
DoTSDT.87036400, DT.527958, DT.101735781, DT.91388312, DT.91598569, DT.91400601
Consensus CDS ProjectCCDS39375.1
International Mouse Knockout Project StatusPms2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025502 VEGA Gene Model | MGI Sequence Detail 27346 C57BL/6J ±  kb
transcript OTTMUST00000062771 VEGA | MGI Sequence Detail 5482 Not Applicable 
polypeptide OTTMUSP00000031008 VEGA | MGI Sequence Detail 859 Not Applicable 

For the selected sequences
All sequences(89) RefSeq(9) UniProt(13)
Polymorphisms
SNPs within 2kb(80 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR014762 DNA mismatch repair, conserved site
InterPro IPR002099 DNA mismatch repair protein
InterPro IPR013507 DNA mismatch repair protein, C-terminal
InterPro IPR003594 Histidine kinase-like ATPase, ATP-binding domain
InterPro IPR014790 MutL, C-terminal, dimerisation
InterPro IPR020568 Ribosomal protein S5 domain 2-type fold
InterPro IPR014721 Ribosomal protein S5 domain 2-type fold, subgroup
Protein Ontology PR:000012914 mismatch repair endonuclease PMS2
References
(Earliest) J:47581 Nicolaides NC, et al., Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature. 1994 Sep 1;371(6492):75-80
(Latest) J:204534 Fischer JM, et al., Occult progression by Apc-deficient intestinal crypts as a target for chemoprevention. Carcinogenesis. 2014 Jan;35(1):237-46
All references(84)
Other
accession IDs
MGD-MRK-25613, MGI:2141233

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory