PMS2 Chromosome 7
PMS1 homolog 2, mismatch repair system component
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What This Gene Does
The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
MutL homologs
Locus Type
gene with protein product
Location
7p22.1
Ensembl
ENSG00000122512
Associated Conditions (59)
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome
Mismatch repair cancer syndrome 4
Malignant tumor of breast
PMS2-related disorder
Ovarian cancer
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Breast and/or ovarian cancer
Hereditary cancer
Mismatch repair cancer syndrome 1
Thymoma
Cholangiocarcinoma
Malignant tumor of esophagus
Hereditary breast ovarian cancer syndrome
Endometrial carcinoma
Carcinoma of colon
Cervical cancer
+39 more conditions
Key Variants
RS1057520512
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
Health Risk
RS1057522327
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1057523755
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1060503111
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 4
Health Risk
RS1060503113
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 4
Health Risk
RS1060503126
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 4, Lynch syndrome 4
Health Risk
RS1060503128
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
Health Risk
RS1060503130
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 4
Health Risk
RS1060503132
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome
Health Risk
RS1060503133
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 4
Health Risk
RS1060503135
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4, Hereditary cancer-predisposing syndrome
Health Risk
RS1060504841
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 4
Health Risk
All Variants (1161)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS876658964 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome, Lynch syndrome 4 |
| RS876659162 | Health Risk | Pathogenic/Likely pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 4 |
| RS876659900 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4 |
| RS876660198 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms |
| RS876661113 | Health Risk | Pathogenic/Likely pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer |
| RS876661203 | Health Risk | Pathogenic/Likely pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 4 |
| RS886039615 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms |
| RS886039646 | Health Risk | Pathogenic/Likely pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 1 |
| RS886062400 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS939641251 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS988423880 | Health Risk | Pathogenic/Likely pathogenic | Endometrial carcinoma, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |