MSH2
Sign in to saveAlso known as mutS homolog 2, COCA1, FCC1, HNPCC, HNPCC1, LCFS2, hMSH2, MMRCS2
DNA mismatch repair protein Msh2 also known as MutS homolog 2 or MSH2 is a protein that in humans is encoded by the MSH2 gene, which is located on chromosome 2. MSH2 is a tumor suppressor gene and more specifically a caretaker gene that codes for a DNA mismatch repair (MMR) protein, MSH2, which forms a heterodimer with MSH6 to make the human MutSα mismatch repair complex. It also dimerizes with MSH3 to form the MutSβ DNA repair complex. MSH2 is involved in many different forms of DNA repair, including transcription-coupled repair, homologous recombination, and base excision repair.
Gene data
MSH2- Name
- mutS homolog 2
- Type
- protein-coding
- Position
- 47,403,067–47,663,146 (+)
- Aliases
- COCA1, FCC1, HNPCC, HNPCC1, LCFS2, LYNCH1, MMRCS2, MSH-2, hMSH2
- Ensembl
- ENSG00000095002
- RefSeq RNA
- NM_000251.3, NM_001258281.1, NM_001406631.1, NM_001406632.1, NM_001406633.1
- RefSeq protein
- NP_000242.1, NP_001245210.1, NP_001393560.1, NP_001393561.1, NP_001393562.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
mutS homolog 2
- Symbol
- MSH2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:47,403,067-47,663,146
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein MSH2 PDB 2o8b.png
Show 5 more facts
- HomoloGene ID
- 210
- exact match
- identifiers.org/ncbigene/4436
- genomic end
- 47663146
- genomic start
- 47403067
- cytogenetic location
- 2p21-p16.3
Sources (7)
via Wikidata · CC0
~8 min read
Article
10 sectionsContents
- Clinical significance
- Microsatellite instability
- Role in mismatch repair
- Double-strand break repair
- Interactions
- Epigenetic MSH2 deficiencies in cancer
- See also
- References
- Further reading
- External links
DNA mismatch repair protein Msh2 also known as MutS homolog 2 or MSH2 is a protein that in humans is encoded by the MSH2 gene, which is located on chromosome 2. MSH2 is a tumor suppressor gene and more specifically a caretaker gene that codes for a DNA mismatch repair (MMR) protein, MSH2, which forms a heterodimer with MSH6 to make the human MutSα mismatch repair complex. It also dimerizes with MSH3 to form the MutSβ DNA repair complex. MSH2 is involved in many different forms of DNA repair, including transcription-coupled repair, homologous recombination, and base excision repair.
Mutations in the MSH2 gene are associated with microsatellite instability and some cancers, especially with hereditary nonpolyposis colorectal cancer (HNPCC). At least 114 disease-causing mutations in this gene have been discovered.