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

rsidPosition (GRCh37)AllelesClassClinVar
rs25219984031:28,218,682C/Tuncertain significance
rs3676873341:28,218,701G/Tuncertain significance
rs25220088251:28,220,565T/Cuncertain significance
rs25220088551:28,220,566C/Tuncertain significance
rs7511388481:28,220,599C/Auncertain significance
rs3731177821:28,220,887T/Cuncertain significance
rs289051811:28,221,996A/T
rs3746031441:28,223,550T/Cuncertain significance
rs7812899591:28,223,616A/Cuncertain significance
rs7581104341:28,224,199G/Auncertain significance
rs112477121:28,229,681C/A
rs3679650341:28,233,735A/Cuncertain significance
rs24744701:28,234,999C/G
rs25221492641:28,240,576A/Guncertain significance
rs2014921731:28,240,653G/Auncertain significance
rs112477181:28,242,447G/C

Gene information from NCBI Gene. Variant classifications from ClinVar.