MSH3 gene

mutS homolog 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognizes large insertion-deletion loops (IDL) up to 13 nucleotides long. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis.

From NCBI Gene:

  • Endometrial carcinoma
  • FAMILIAL ADENOMATOUS POLYPOSIS 4

From UniProt:

Endometrial cancer (ENDMC): A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. [MIM:608089]

Cytogenetic Location: 5q14.1, which is the long (q) arm of chromosome 5 at position 14.1

Molecular Location: base pairs 80,654,648 to 80,876,815 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q14.1, which is the long (q) arm of chromosome 5 at position 14.1
  • DUP
  • FAP4
  • MRP1