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FLASH GENE
Symbol PMS2 contributors: mct - updated : 05-05-2010
HGNC name PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
HGNC id 9122
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a region of homology with other MutS or MutL homologs, comprising a region of 150 aminoacids encompassing
  • a putative helix-turn-helix domain associated with an adenine nucleotide and magnesium binding sites
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to yeast mutator gene (bacterial mutL)
    Homologene
    FAMILY
  • DNA mismatch repair mutL/hexB family
    • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • correctin of base-base mismatches and insertion-deletion loops resulting from DNA replication and recombination events
  • possessing an intrinsic low-level ATPase actvity
  • play a far more important role in Lynch syndrome than initially thought
  • its endonuclease activity has distinct biological functions and is essential for genome maintenance and tumor suppression
  • endonuclease function of PMS2 does not play an essential role in meiosis, but it is possible that the protein also contributes to checkpoint-signaling pathways during premeiotic S-phase and spermatogenesis
    • CELLULAR PROCESS cell cycle,division,meiosis
    nucleotide, repair, mismatch repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    mismatch repair
    a component
  • heterodimerizing with MLH1
  • essential component of DNA mismatch repair (MMR) complexes, which play an important role in maintaining genetic stability
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MLH1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HNPCC4 , CMMRD
    related resource International Group on Hereditary Non-Polyposis Colorectal Cancer
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    in colon and uterus tumor
    Susceptibility to prostate cancer
    Variant & Polymorphism SNP , other
  • three SNP causing defective protein-protein interaction with MLH1
  • rare genetic variants that confer a high risk of prostate cancer when mutated
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS