BRAF Gene (Protein Coding)

• This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]

• BRAF mutations are found to be recurrent in many cancer types. Of these, the mutation of valine 600 to glutamic acid (V600E) is the most prevalent. V600E has been determined to be an activating mutation, and cells that harbor it, along with other V600 mutations are sensitive to the BRAF inhibitor dabrafenib. It is also common to use MEK inhibition as a substitute for BRAF inhibitors, and the MEK inhibitor trametinib has seen some success in BRAF mutant melanomas. BRAF mutations have also been correlated with poor prognosis in many cancer types, although there is at least one study that questions this conclusion in papillary thyroid cancer.

BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase) is a Protein Coding gene. Diseases associated with BRAF include Cardiofaciocutaneous Syndrome 1 and Lung Cancer. Among its related pathways are MAPK-Erk Pathway and RANK Signaling in Osteoclasts. Gene Ontology (GO) annotations related to this gene include calcium ion binding and transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is RAF1.

• 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.

  • BRAF_HUMAN,P15056

• 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 (c-Raf) is activated by GTP-bound Ras and recruited to the cell membrane. This activation process is tightly regulated.

• HGNC(1097)
• Entrez Gene(673)
• Ensembl(ENSG00000157764)
• OMIM(164757)
• UniProtKB(P15056)
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• Monarch Initiative
• Search for BRAF at DataMed
• Search for BRAF at HumanCyc

No data available for Rfam classification and piRNA Summary for BRAF Gene

No data available for DME Specific Peptides for BRAF Gene

No data available for Transcription Factor Targets and HOMER Transcription for BRAF Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRAF Gene