BRAF

BRAF Gene Summary

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]

Details

Type
Protein Coding
Official Symbol
BRAF
Official Name
B-Raf proto-oncogene, serine/threonine kinase [Source:HGNC Symbol;Acc:HGNC:1097]
Ensembl ID
ENSG00000157764
Bio databases IDs NCBI: 673 Ensembl: ENSG00000157764
Aliases B-Raf proto-oncogene, serine/threonine kinase
Synonyms
9930012E13RIK,AI447469,B-RAF1,Braf-2,B-Raf proto-oncogene, serine/threonine kinase,Braf transforming gene,C230098H17,C87398,D6Ertd631e,NS7,RAFB,RAFB1
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • 14-3-3 binding domain
  • protein serine/threonine kinase
  • protein kinase
  • regulatory domain
  • enzyme
  • Protein kinase domain
  • identical protein binding
  • dimer interface domain
  • Ras-binding domain
  • protein kinase C conserved region 1 (C1 domain) superfamily
  • alcohol group acceptor phosphotransferase
  • tail domain
  • Tyrosine kinase, catalytic domain
  • glycine rich domain
  • activation domain
  • Protein kinase (unclassified specificity)
  • protein kinase binding
  • autoinhibitory protein domain
  • catalytic domain
  • Protein tyrosine and serine/threonine kinase
  • CR1 domain
  • CR2 domain
  • enzyme binding
  • calcium ion binding
  • CR3 domain
  • protein binding
  • MAP kinase kinase kinase
  • kinase
  • Serine/Threonine protein kinases, catalytic domain
  • MAP kinase kinase
  • kinase domain
  • binding protein
  • Protein Kinases, catalytic domain
  • Raf-like Ras-binding domain
  • Ubl1_cv_Nsp3_N-like
  • ERK phosphorylation site

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • estrogen receptor
  • KSR1
  • RAF1
  • ARAF
  • RAP1
  • KSR2
  • MYO9B
  • YWHAE
  • YWHAG
  • NTRK1
disease
  • neoplasia
  • epithelial neoplasia
  • benign neoplasia
  • rheumatoid arthritis
  • plasma cell myeloma
  • breast cancer
  • metastatic melanoma
  • cutaneous melanoma
  • angiosarcoma
  • gastroesophageal junction adenocarcinoma
regulated by
  • avutometinib
  • budesonide
  • TP53
  • PRKG1
  • FGFR2
  • LY294002
  • PLX8394
  • SHOC2
  • calcimycin
  • cyclic AMP
regulates
  • NR3C2
  • CCL2
  • DNA promoter
  • DNA endogenous promoter
  • histone H3
  • IL1B
  • IL6
  • NT5E
  • HFE
  • HLA-B
role in cell
  • expression in
  • migration
  • proliferation
  • invasion by
  • growth
  • formation in
  • production in
  • cell viability
  • quantity
  • frequency

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • early endosomal fractions
  • glutaminergic synapse
  • intracellular membrane-bounded organelle
  • cilia
  • postsynaptic region
  • Nucleus
  • Plasma Membrane
  • basal bodies
  • centrosome
  • Mitochondria
  • cytosol
  • neurites
  • perikaryon
  • clathrin-coated vesicles
  • plasma
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the BRAF gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • epidermal growth factor receptor signaling pathway
  • response to cAMP
  • CD4-positive, alpha-beta T cell differentiation
  • visual learning
  • protein phosphorylation
  • stress fiber assembly
  • CD4-positive or CD8-positive, alpha-beta T cell lineage commitment
  • head morphogenesis
  • face development
  • establishment of protein localization in membrane
  • negative regulation of neuron apoptotic process
  • thymus development
  • MAPK cascade
  • positive regulation of axonogenesis
  • positive regulation of axon regeneration
  • cellular response to calcium ion
  • myeloid progenitor cell differentiation
  • substrate adhesion-dependent cell spreading
  • somatic stem cell maintenance
  • long-term synaptic potentiation
  • negative regulation of endothelial cell apoptotic process
  • synaptic vesicle exocytosis
  • T cell receptor signaling pathway
  • positive regulation of peptidyl-serine phosphorylation
  • T cell differentiation in thymus
  • positive regulation of substrate adhesion-dependent cell spreading
  • response to peptide hormone stimulus
  • regulation of cell proliferation
  • organ morphogenesis
  • ERK1 and ERK2 cascade
  • positive regulation of glucose transport
  • regulation of T cell differentiation
  • thyroid gland development
  • positive regulation of stress fiber assembly
  • negative regulation of apoptotic process
  • positive regulation of gene expression
  • positive regulation of ERK1 and ERK2 cascade
  • negative regulation of fibroblast migration
  • cellular response to xenobiotic stimulus
  • endothelial cell apoptotic process
  • negative regulation of synaptic vesicle exocytosis

CELLULAR COMPONENT

Where in the cell the gene product is active
  • nucleus
  • intracellular membrane-bounded organelle
  • cell body
  • mitochondrion
  • cytosol
  • neuron projection
  • plasma membrane

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • ATP binding
  • scaffold protein binding
  • identical protein binding
  • protein binding
  • calcium ion binding
  • MAP kinase kinase activity
  • small GTPase binding
  • protein kinase activity
  • MAP kinase kinase kinase activity
  • protein serine/threonine kinase activity
  • mitogen-activated protein kinase kinase binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.