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PMS2 |
Gene Facts External Data Attribution
- HGNC Symbol
- PMS2 (HGNC:9122) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- PMS1 homolog 2, mismatch repair system component
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- PMSL2
- Alias symbols
- H_DJ0042M02.9, HNPCC4, MLH4, PMS-2
- %HI
- 59.43(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.9(Read more about gnomAD LOEUF score)
- Cytoband
- 7p22.1
- Genomic Coordinates
-
GRCh37/hg19: chr7:6010556-6048737 NCBI Ensembl UCSC GRCh38/hg38: chr7:5970925-6009106 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000535.7 ENST00000265849.12 (Read more about MANE Select)
- Function
- Component of the post-replicative DNA mismatch repair system (MMR) (PubMed:30653781, PubMed:35189042). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-36673
ClinGen Curation ID:
CCID:007688
Curation Status:
Under Group Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Last Evaluated:
Under Group Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)
