NCBP2
nuclear cap binding protein subunit 2
Summary
The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants5 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1436504113 | 3:196,664,417 | C/G | — | uncertain significance |
| rs1716324273 | 3:196,664,454 | C/T | — | uncertain significance |
| rs2474150035 | 3:196,664,490 | G/A | — | uncertain significance |
| rs2474152776 | 3:196,666,251 | A/G | — | uncertain significance |
| rs187414617 | 3:196,670,385 | G/A | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.