| Entrez Gene ID | 4437 |
|---|---|
| Official Gene Symbol | MSH3 (GeneCards) |
| Full name | mutS homolog 3 |
| Location | 5q14.1 |
| Other ids | Vega : OTTHUMG00000162540 MIM : 600887 HGNC : HGNC:7326 Ensembl : ENSG00000113318 |
| Other names | DUP, FAP4, MRP1 |
| Summary | The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 8699 | 4437 | MSH3 | 5 | 80171235 | 80171235 | Cockayne syndrome | HiSeq X Ten |
| 25811 | 4437 | MSH3 | 5 | 80197259 | 80197259 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 25887 | 4437 | MSH3 | 5 | 80197259 | 80197259 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 25916 | 4437 | MSH3 | 5 | 80197259 | 80197259 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29772 | 4437 | MSH3 | 5 | 80169078 | 80169078 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |