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Description for Protein PMS2

PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
40 total interacting proteins; 23 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K10858
KEGG - Pathway(s):
hsa03430
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
PMS2 postmeiotic segregation increased 2; PMS1 protein homolog 2; PMSL2; Mismatch repair gene PMSL2; HNPCC4; PMS2CL; H_DJ0042M02.9; DNA mismatch repair gene homologue; Postmeiotic segregation increased 2; PMS2 postmeiotic segregation increased 2 isoform a
Approved Symbol:
PMS2
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 14
Human (de-) phosphorylation sites: 14; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Adenosine-5'-Diphosphate(db);
  • Phosphothiophosphoric Acid-Adenylate Ester(db)

    Associated Genetic Diseases:

  • Colorectal cancer, hereditary nonpolyposis, type 4(Pd);
  • Neuroectodermal tumors, supratentorial primitive, with cafe-au-lait spots(Pd);
  • Turcot syndrome(Pd);
  • Turcot syndrome with glioblastoma(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02598 Entrez Gene ID: 5395 OMIM ID: 600259 Swissprot Accession: P54278;