MSH2 mutS homolog 2
Gene ID: 4436, updated on 21-Mar-2023Gene type: protein coding
Also known as: FCC1; COCA1; HNPCC; LCFS2; MSH-2; hMSH2; HNPCC1; LYNCH1; MMRCS2
- See all available tests in GTR for this gene
- Go to complete Gene record for MSH2
- Go to Variation Viewer for MSH2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Lynch syndrome MedGen: C4552100GeneReviews: Lynch Syndrome | See labs |
| Lynch syndrome 1 | See labs |
| Mismatch repair cancer syndrome 2 | See labs |
| Muir-Torre syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-10-13) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-13) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 2p21-p16.3
- Sequence:
- Chromosome: 2; NC_000002.12 (47403067..47709830)
- Total number of exons:
- 46
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | GeneView ReportGo to Variation Viewer for MSH2 variants |
| 1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- MSH2 @ ZAC-GGM
- MSH2 homepage - Colon cancer gene variant databases
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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