RPA2
replication protein A2
Summary
This gene encodes a subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating the cellular response to DNA damage through activation of the ataxia telangiectasia and Rad3-related protein (ATR) kinase. The RPA complex protects single-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different genome maintenance factors. The heterotrimeric complex has two different modes of ssDNA binding, a low-affinity and high-affinity mode, determined by which oligonucleotide/oligosaccharide-binding (OB) domains of the complex are utilized, and differing in the length of DNA bound. This subunit contains a single OB domain that participates in high-affinity DNA binding and also contains a winged helix domain at its carboxy terminus, which interacts with many genome maintenance protein. Post-translational modifications of the RPA complex also plays a role in co-ordinating different damage response pathways. [provided by RefSeq, Sep 2017]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2521998403 | 1:28,218,682 | C/T | — | uncertain significance |
| rs367687334 | 1:28,218,701 | G/T | — | uncertain significance |
| rs2522008825 | 1:28,220,565 | T/C | — | uncertain significance |
| rs2522008855 | 1:28,220,566 | C/T | — | uncertain significance |
| rs751138848 | 1:28,220,599 | C/A | — | uncertain significance |
| rs373117782 | 1:28,220,887 | T/C | — | uncertain significance |
| rs28905181 | 1:28,221,996 | A/T | — | — |
| rs374603144 | 1:28,223,550 | T/C | — | uncertain significance |
| rs781289959 | 1:28,223,616 | A/C | — | uncertain significance |
| rs758110434 | 1:28,224,199 | G/A | — | uncertain significance |
| rs11247712 | 1:28,229,681 | C/A | — | — |
| rs367965034 | 1:28,233,735 | A/C | — | uncertain significance |
| rs2474470 | 1:28,234,999 | C/G | — | — |
| rs2522149264 | 1:28,240,576 | A/G | — | uncertain significance |
| rs201492173 | 1:28,240,653 | G/A | — | uncertain significance |
| rs11247718 | 1:28,242,447 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.