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]
Transcription factors with Perturb-seq knockdown data for PMS2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = PMS2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of PMS2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr7:5,781,073–5,781,919 | 227.5 kb | Distal (>10kb) Multiome | 696 | |
| chr7:5,822,727–5,823,386 | 186.0 kb | Distal (>10kb) Multiome | 650 | |
| chr7:6,008,669–6,009,907 | 113 bp | At TSS Multiome | 1068 | |
| chr7:6,058,614–6,059,749 | 50.1 kb | Distal (>10kb) Multiome | 916 | |
| chr7:6,081,109–6,081,851 | 72.5 kb | Distal (>10kb) Multiome | 904 | |
| chr7:6,103,982–6,105,662 | 95.7 kb | Distal (>10kb) Multiome | 1040 | |
| chr7:6,271,933–6,273,059 | 263.6 kb | Distal (>10kb) Multiome | 582 | |
| chr7:6,348,284–6,349,527 | 339.9 kb | Distal (>10kb) Multiome HiCAR | 787 |
Genomic view of the PMS2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.