≡

Postmeiotic Segregation Increased Protein 2 (PMS2)

[Edit]

HNPCC4; PMS2CL; PMSL2; Mismatch repair endonuclease PMS2; DNA mismatch repair protein PMS2; PMS1 protein homolog 2

Postmeiotic Segregation Increased Protein 2 (PMS2)
CCC M036
HGNC 9122
MGI 104288
PubMed 18602922
RGD 1305483
UniProt P54278
Wiki PMS2
PMS2is involved in DNA mismatch repair. The protein forms a heterodimer with MLH1 and this complex interacts with MSH2 bound to mismatched bases. Defects in this gene are associated with hereditary nonpolyposis colorectal cancer, with Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed.
Microsequence analysis demonstrated both of these proteins to be homologs of bacterial MutL, with the former corresponding to the human MLH1 product and the latter to the product of human PMS2 or a closely related gene. The 1:1 molar stoichiometry of the 2 polypeptides and their hydrodynamic behavior indicated formation of a heterodimer.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Postmeiotic Segregation Increased Protein 2 (PMS2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Postmeiotic Segregation Increased Protein 2 (PMS2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Postmeiotic Segregation Increased Protein 2 (PMS2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Postmeiotic Segregation Increased Protein 2 (PMS2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Postmeiotic Segregation Increased Protein 2 (PMS2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Postmeiotic Segregation Increased Protein 2 (PMS2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Postmeiotic Segregation Increased Protein 2 (PMS2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Postmeiotic Segregation Increased Protein 2 (PMS2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Postmeiotic Segregation Increased Protein 2 (PMS2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Postmeiotic Segregation Increased Protein 2 (PMS2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Postmeiotic Segregation Increased Protein 2 (PMS2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Postmeiotic Segregation Increased Protein 2 (PMS2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Postmeiotic Segregation Increased Protein 2 (PMS2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Postmeiotic Segregation Increased Protein 2 (PMS2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Postmeiotic Segregation Increased Protein 2 (PMS2) ELISA Kit Customized Service Offer
  1. "Mutations of two PMS homologues in hereditary nonpolyposis colon cancer."Nature 371:75-80(1994) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence of human chromosome 7." Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures."Genes Dev. 14:927-939(2000) [PubMed] [Europe PMC] [Abstract]
  6. "Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer."Gastroenterology 128:1431-1436(2005) [PubMed] [Europe PMC] [Abstract]
  7. "Endonucleolytic function of MutLalpha in human mismatch repair."Cell 126:297-308(2006) [PubMed] [Europe PMC] [Abstract]
  8. "A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome."J. Med. Genet. 45:340-345(2008) [PubMed] [Europe PMC] [Abstract]
  9. "Direct visualization of asymmetric adenine nucleotide-induced conformational changes in MutL alpha."Mol. Cell 29:112-121(2008) [PubMed] [Europe PMC] [Abstract]
  10. "Human mismatch repair: reconstitution of a nick-directed bidirectional reaction."J. Biol. Chem. 280:39752-39761(2005) [PubMed] [Europe PMC] [Abstract]
  11. "MutLalpha: at the cutting edge of mismatch repair."Cell 126:239-241(2006) [PubMed] [Europe PMC] [Abstract]
  12. "Mechanisms and functions of DNA mismatch repair."Cell Res. 18:85-98(2008) [PubMed] [Europe PMC] [Abstract]
  13. "A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair."Mol. Cell 39:36-47(2010) [PubMed] [Europe PMC] [Abstract]
  14. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  15. "Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase."EMBO J. 20:5521-5531(2001) [PubMed] [Europe PMC] [Abstract]
  16. "The molecular basis of Turcot's syndrome."N. Engl. J. Med. 332:839-847(1995) [PubMed] [Europe PMC] [Abstract]
  17. "Drastic genetic instability of tumors and normal tissues in Turcot syndrome."Oncogene 15:2877-2881(1997) [PubMed] [Europe PMC] [Abstract]
  18. "Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer."Hum. Genet. 105:79-85(1999) [PubMed] [Europe PMC] [Abstract]
  19. "Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms."Hum. Mutat. 19:108-113(2002) [PubMed] [Europe PMC] [Abstract]
  20. "Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome."Am. J. Hum. Genet. 74:954-964(2004) [PubMed] [Europe PMC] [Abstract]
  21. "Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation."Hum. Mutat. 28:1084-1090(2007) [PubMed] [Europe PMC] [Abstract]
  22. "Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants."J. Med. Genet. 50:552-563(2013) [PubMed] [Europe PMC] [Abstract]