RBBP5
RB binding protein 5, histone lysine methyltransferase complex subunit
Summary
This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12033493 | 1:205,062,433 | C/T | downstream gene variant | — |
| rs761453173 | 1:205,065,833 | T/A | — | uncertain significance |
| rs2526544024 | 1:205,065,894 | T/C | — | uncertain significance |
| rs146021606 | 1:205,065,947 | G/A | — | uncertain significance |
| rs1268179012 | 1:205,070,738 | G/A | — | uncertain significance |
| rs748242807 | 1:205,070,768 | T/C | — | uncertain significance |
| rs146352640 | 1:205,072,413 | C/T | intron variant | — |
| rs17854844 | 1:205,073,069 | C/T | — | benign |
| rs61759883 | 1:205,073,107 | T/C | — | uncertain significance |
| rs6692170 | 1:205,074,019 | G/A | intron variant | — |
| rs548138620 | 1:205,077,026 | A/G | — | — |
| rs4950982 | 1:205,078,247 | T/G | — | — |
| rs61822568 | 1:205,081,166 | C/G | intron variant | — |
| rs2526658558 | 1:205,084,014 | C/T | — | uncertain significance |
| rs542569864 | 1:205,092,871 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.