MSH2 Gene Summary [Human]
This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Details
| Type | Protein Coding |
| Official Symbol | MSH2 |
| Official Name | mutS homolog 2 [Source:HGNC Symbol;Acc:HGNC:7325] |
| Ensembl ID | ENSG00000095002 |
| Bio databases IDs | |
| Aliases | mutS homolog 2, DNA mismatch repair protein Msh2 |
| Synonyms | COCA1, FCC1, hMSH2, HNPCC, HNPCC1, LCFS2, LOC124907764, LYNCH1, MMRCS2, mutS homolog 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MSH2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ADP binding
- ATPase domain of DNA mismatch repair MUTS family
- DNA secondary structure binding
- ATP binding
- chromatin binding
- enzyme
- enzyme activator activity
- ATPase
- MutS domain II
- MutS domain I
- MutS domain III
- P-loop containing Nucleoside Triphosphate Hydrolases
- DNA mismatch repair protein MutS
- protein binding
- MutS domain V
- DNA dependent ATPase
- magnesium ion binding
- centromeric DNA binding
- DNA binding
- binding protein
- damaged DNA binding
- single-stranded DNA binding
- double-stranded DNA binding
- MutS family domain IV
- protein homodimerization
- DNA-binding domain of DNA mismatch repair MUTS family
Pathways
Biological processes and signaling networks where the MSH2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- esophageal squamous cell carcinoma
- non-small cell lung cancer
- lung cancer
- gastric cancer
- esophageal squamous cell cancer
- COVID-19
- hypertension
- epithelial cancer
- epithelial neoplasia
- cancer
role in cell
- expression in
- number
- damage
- colony survival
- cell viability
- activation in
- quantity
- formation
- apoptosis
- proliferation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- cell surface
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MSH2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- somatic recombination of immunoglobulin gene segments
- DNA repair
- response to X-ray
- male gonad development
- determination of adult lifespan
- positive regulation of helicase activity
- DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis
- postreplication repair
- negative regulation of neuron apoptotic process
- double-strand break repair
- oxidative phosphorylation
- maintenance of DNA repeat elements
- in utero embryonic development
- intra-S DNA damage checkpoint
- B cell mediated immunity
- isotype switching
- germ cell development
- B cell differentiation
- positive regulation of isotype switching to IgG isotypes
- mismatch repair
- mitotic recombination
- negative regulation of DNA recombination
- positive regulation of isotype switching to IgA isotypes
- somatic recombination of immunoglobulin genes involved in immune response
- protein localization to chromatin
- response to UV-B
- somatic hypermutation of immunoglobulin genes
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromosome, telomeric region
- membrane
- MutSalpha complex
- MutSbeta complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- DNA-dependent ATPase activity
- protein homodimerization activity
- dinucleotide repeat insertion binding
- single guanine insertion binding
- single thymine insertion binding
- double-stranded DNA binding
- ADP binding
- chromatin binding
- four-way junction DNA binding
- single-stranded DNA binding
- magnesium ion binding
- DNA binding
- ATP binding
- MutLalpha complex binding
- protein binding
- mismatched DNA binding
- dinucleotide insertion or deletion binding
- centromeric DNA binding
- guanine/thymine mispair binding
- oxidized purine DNA binding