RBM39
RNA binding motif protein 39
Summary
This gene encodes a member of the U2AF65 family of proteins. The encoded protein is found in the nucleus, where it co-localizes with core spliceosomal proteins. It has been shown to play a role in both steroid hormone receptor-mediated transcription and alternative splicing, and it is also a transcriptional coregulator of the viral oncoprotein v-Rel. Multiple transcript variants have been observed for this gene. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Aug 2011]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6058302 | 20:34,290,037 | C/T | downstream gene variant | — |
| rs2515528053 | 20:34,292,439 | C/T | — | uncertain significance |
| rs200574488 | 20:34,292,441 | T/C | — | uncertain significance |
| rs1239930889 | 20:34,292,492 | T/C | — | uncertain significance |
| rs2425073 | 20:34,293,699 | A/G | downstream gene variant | — |
| rs2425084 | 20:34,301,871 | C/G | — | — |
| rs2378392 | 20:34,307,765 | C/T | — | — |
| rs146714571 | 20:34,307,836 | C/A | downstream gene variant | — |
| rs2515687595 | 20:34,312,613 | T/C | — | uncertain significance |
| rs2039112743 | 20:34,317,249 | T/C | — | uncertain significance |
| rs375140256 | 20:34,317,406 | A/C | — | uncertain significance |
| rs754134582 | 20:34,319,935 | C/T | — | uncertain significance |
| rs757598805 | 20:34,319,941 | C/T | — | uncertain significance |
| rs750864321 | 20:34,319,953 | C/T | — | uncertain significance |
| rs1330733852 | 20:34,326,938 | T/C | — | uncertain significance |
| rs750435766 | 20:34,328,750 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.