Aliases for BRAF Gene
External Ids for BRAF Gene
This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for BRAF Gene
BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase) is a Protein Coding gene. Diseases associated with BRAF include noonan syndrome 7 and leopard syndrome 3. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include calcium ion binding and protein serine/threonine kinase activity. An important paralog of this gene is MAP3K9.
UniProtKB/Swiss-Prot for BRAF Gene
Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron. Phosphorylates MAP2K1, and thereby contributes to the MAP kinase signal transduction pathway.
Raf kinases, a family of three serine/threonine kinases, are part of the ras-MAPK signaling cascade and phosphorylate MEK. Upon growth factor stimulation, Raf-1 (or c-Raf) is activated by GTP-bound Ras and recruited to the cell membrane. This activation process is tightly regulated by a number of factors including phosphatases (e.g. PP1, PP2A, PP5), kinases (e.g. Src, ERK, Akt, PKC) and proteins that bind directly to Raf-1 (e.g. RKIP, 14-3-3zeta, KSR, Hsp90). Raf-1 is also thought to be able to dimerize with wild type B-Raf in a Ras-dependent process. B-raf is commonly mutated and thereby activated in many human cancers, the most frequent mutation being the V600E mutation of the kinase domain. Whilst wt b-Raf and Raf-1 are strongly activated by growth factor signals via Ras and Src, a-Raf is only modestly activated and has low basal activity. All three isoforms of Raf are considered to be oncogenic.