DDX39B
DExD-box helicase 39B
Summary
This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs138849178 | 6:31,498,914 | T/C | — | benign |
| rs3853601 | 6:31,499,603 | C/G | downstream gene variant | — |
| rs115843100 | 6:31,499,713 | G/C | downstream gene variant | — |
| rs745700709 | 6:31,500,561 | T/C | — | uncertain significance |
| rs11796 | 6:31,501,212 | A/C | — | — |
| rs1767799754 | 6:31,504,323 | A/C | — | uncertain significance |
| rs2481412217 | 6:31,504,461 | C/A | — | uncertain significance |
| rs377444138 | 6:31,504,466 | G/A | — | benign |
| rs2734583 | 6:31,505,480 | A/G | upstream gene variant | — |
| rs9267485 | 6:31,505,790 | G/C | — | — |
| rs2481434228 | 6:31,506,604 | C/T | — | uncertain significance |
| rs2481439394 | 6:31,506,988 | C/T | — | uncertain significance |
| rs148931659 | 6:31,507,055 | A/G | — | benign |
| rs2269476 | 6:31,507,938 | G/A | upstream gene variant | — |
| rs2481452309 | 6:31,508,129 | C/A | — | uncertain significance |
| rs763394152 | 6:31,508,178 | G/C | — | uncertain significance |
| rs2481452992 | 6:31,508,201 | C/A | — | uncertain significance |
| rs375215990 | 6:31,508,218 | G/A | — | uncertain significance |
| rs2481453337 | 6:31,508,219 | C/G | — | uncertain significance |
| rs754842685 | 6:31,508,245 | G/C | — | uncertain significance |
| rs778941682 | 6:31,508,246 | C/G | — | uncertain significance |
| rs371047190 | 6:31,508,828 | G/A | regulatory region variant | — |
| rs3130059 | 6:31,509,284 | G/C | regulatory region variant | — |
| rs2239525 | 6:31,509,372 | G/C | — | — |
| rs2239527 | 6:31,509,779 | C/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.