BRAF

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]

Description

B-Raf proto-oncogene, serine/threonine kinase

Tissue specificity

Low tissue specificity

Subcell location

Vesicles, Cytosol

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

7 (140719327 - 140924929)

Ensembl ID

ENSG00000157764  (ver. 103.38)

Orthologs

Mouse Braf: ENSMUSG00000002413

UniProt

P15056

neXtProt

NX_P15056

Human splice variants
Mouse splice variants

Protein structure