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Pms2 Gene Detail
Summary
  • Symbol
    Pms2
  • Name
    postmeiotic segregation increased 2 (S. cerevisiae)
  • Synonyms
    DNA mismatch repair, mismatch repair
  • Feature Type
    protein coding gene
  • IDs
    MGI:104288
    NCBI Gene: 18861
  • Gene Overview
    MyGene.info: PMS2
Location & Maps
more
  • Sequence Map
    Chr5:143909964-143933968 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24005 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 82.82 cM, cytoband G2
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    PMS2, PMS1 homolog 2, mismatch repair system component
  • Vertebrate Orthologs
    7
  • Human Ortholog
    PMS2, PMS1 homolog 2, mismatch repair system component
    Orthology source: HomoloGene
  • Synonyms
    HNPCC4, MLH4, PMS2CL, PMSL2
  • Links
    NCBI Gene ID: 5395
    neXtProt AC: NX_P54278

  • Chr Location
    7p22.2; chr7:5970925-6009106 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human PMS2 associations

Human Disease Mouse Models
       Colorectal Cancer, Hereditary Nonpolyposis, Type 4; HNPCC4   OMIM: 614337
Mismatch Repair Cancer Syndrome; MMRCS   OMIM: 276300
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 3 alleles in 4 genetic backgrounds
    16 phenotypes from multigenic genotypes
    48 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    20
  • Gene trapped
    13
  • Targeted
    6
  • Transgenic
    1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000054938 VEGA Gene Model | MGI Sequence Detail 24005 C57BL/6J ±  kb
transcript OTTMUST00000062771 VEGA | MGI Sequence Detail 5482 Not Applicable  
polypeptide OTTMUSP00000031008 VEGA | MGI Sequence Detail 859 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    73 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • InterPro Domains
    IPR014762 DNA mismatch repair, conserved site
    IPR013507 DNA mismatch repair protein, C-terminal
    IPR002099 DNA mismatch repair protein family
    IPR028831 DNA mismatch repair protein Pms1/Pms2
    IPR003594 Histidine kinase-like ATPase, C-terminal domain
    IPR014790 MutL, C-terminal, dimerisation
    IPR020568 Ribosomal protein S5 domain 2-type fold
    IPR014721 Ribosomal protein S5 domain 2-type fold, subgroup
Molecular
Reagents
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  • All nucleic 68
    Genomic 1
    cDNA 67

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-25613, MGI:2141233
References
more
  • Summaries
    All 81
    Developmental Gene Expression 2
    Gene Ontology 15
    Phenotypes 48
  • 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:221629 Zivojnovic M, et al., Somatic hypermutation at A/T-rich oligonucleotide substrates shows different strand polarities in Ung-deficient or -proficient backgrounds. Mol Cell Biol. 2014 Jun;34(12):2176-87

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory