MSH6 mutS homolog 6
Gene ID: 2956, updated on 8-Apr-2024Gene type: protein coding
Also known as: GTBP; HSAP; p160; GTMBP; MSH-6; HNPCC5; LYNCH5; MMRCS3
- See all available tests in GTR for this gene
- Go to complete Gene record for MSH6
- Go to Variation Viewer for MSH6 variants
Summary
This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Endometrial carcinoma | See labs |
| Genome-wide association study of smoking behaviours in patients with COPD. GeneReviews: Not available | |
| Lynch syndrome MedGen: C4552100GeneReviews: Lynch Syndrome | See labs |
| Lynch syndrome 5 | See labs |
| Mismatch repair cancer syndrome 3 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-13) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2021-10-13) ClinGen Genome Curation Page |
Genomic context
- Location:
- 2p16.3
- Sequence:
- Chromosome: 2; NC_000002.12 (47783145..47810101)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MSH6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- MSH6 @ ZAC-GGM
- MSH6 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
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.