You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020

MSH6 (NM_001281493) - mutS homolog 6

Dna Mismatch Repair Protein Msh6 Isoform 3

Mutations Visualisation

Protein summary

This is an alternative isoform of MSH6 protein. View all 4 isoforms
MSH6: DNA mismatch repair protein Msh6 isoform 3
Description:

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].

Strand
+
Chromosome
2
Protein
1058 residues
All mutations
1948
PTM sites
62
CDS
48,026,028 - 48,033,999
Transcription
48,010,220 - 48,034,092
10.11% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 2956
UniProt
Ensembl