Mismatch Repair Endonuclease PMS2

Preferred Label : Mismatch Repair Endonuclease PMS2;

NCIt synonyms : DNA Mismatch Repair Protein-PMS2; PMS1 Protein Homolog 2; DNA Mismatch Repair Protein PMS2; EC 3.1.-.-;

NCIt related terms : PMS2;

NCIt definition : Mismatch repair endonuclease PMS2 (862 aa, 96 kDa) is encoded by the human PMS2 gene. This protein plays a role in DNA mismatch repair.;

NCIt note : PMS2 is part of the BASC genome surveillance complex. MSH2 and MLH1 interact with PMS1, PMS2, and MSH6. Essential for repair of replication slippage errors, PMS2 is a cloned gene for Turcot syndrome and Hereditary Non-Polyposis Colon Cancer. Transcribed from the opposite strand, JTV1 overlaps PMS2.;

Details

Origin ID

C21479;

UMLS CUI

C1333235;

OMIM relation
- Pms1 homolog 2, mismatch repair system component [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- Mismatch repair endonuclease PMS2 (substance) [SNOMED CT concept]
- PMS2 protein, human [MeSH concept]
- PMS2 protein, human [MeSH Supplementary Concept]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CPTAC Uterine Corpus Endometrial Carcinoma Baseline Form [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- DNA Repair Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Esterase Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
- PMS2 Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- DNA Repair Endonuclease [NCIt concept]
- Hydrolase [NCIt concept]
- Mismatch Repair Protein [NCIt concept]
gene_product_has_gene_product_variant
- PMS2 Protein Variant [NCIt concept]
gene_product_has_organism_source
- Human [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Mismatch Repair Pathway [NCIt concept]
- p53 Effector Pathway [NCIt concept]
gene_product_malfunction_associated_with_disease
- Endometrial Carcinoma [NCIt concept]
- Lynch Syndrome [NCIt concept]
- Malignant Gastric Neoplasm [NCIt concept]
- Turcot Syndrome [NCIt concept]
gene_product_plays_role_in_biological_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Hydrolysis [NCIt concept]
- Mismatch Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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