DNA Mismatch Repair Protein Msh2

Preferred Label : DNA Mismatch Repair Protein Msh2;

NCIt synonyms : MutS Homolog 2; MSH2; DNA Mismatch Repair Protein-MSH2; hMSH2; MutS Protein Homolog 2;

NCIt definition : DNA mismatch repair protein Msh2 (934 aa, 105 kDa) is encoded by the human MSH2 gene. This protein is involved in DNA mismatch repair.;

NCIt note : MSH2 is part of the large multi-subunit BASC complex, containing ATM, BLM, BRCA1, MSH6, MLH1, RAD50/MRE11/NBS1, and RFC1/RFC2/RFC4, which may sense abnormal DNA structures and/or regulate post-replication repair. MSH2 protein also interacts with G/T binding protein.; MSH2 is part of the heterodimeric MutS beta complex with MSH3. (UniProt);

Details

Origin ID

C21466;

UMLS CUI

C1333234;

OMIM relation
- Muts homolog 2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- DNA mismatch repair protein Msh2 (substance) [SNOMED CT 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]
- MSH2 Gene [NCIt concept]
gene_product_expressed_in_tissue
- Blood [NCIt concept]
- Muscle [NCIt concept]
gene_product_has_associated_anatomy
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- ATPase [NCIt concept]
- Mismatch Repair Protein [NCIt concept]
gene_product_has_gene_product_variant
- MSH2 NP_000242.1:p.A636P [NCIt concept]
- MSH2 Protein Variant [NCIt concept]
gene_product_has_organism_source
- Human [NCIt concept]
gene_product_has_structural_domain_or_motif
- Walker-A Motif [NCIt concept]
gene_product_is_element_in_pathway
- Colorectal Cancer Pathway [NCIt concept]
- 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]
- Malignant Ovarian Neoplasm [NCIt concept]
gene_product_plays_role_in_biological_process
- DNA Repair [NCIt concept]
- Mismatch Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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