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]
Tumor type associations:
- Bladder
- Breast
- Cervical
- Colorectal
- Endometrial
- Esophageal
- Gastric
- Kidney
- Liver
- Lymphoma
- Melanoma
- Ovarian
- Pancreatic
- Prostate
- Involved in MAPK cascade
- Positive regulation of protein phosphorylation
- Myeloid progenitor cell differentiation
- Involved in protein phosphorylation
- Signal transduction
- Located in nucleus
- Cytoplasm
- Mitochondrion
- Located in cytosol
- Located in plasma membrane
- Nucleotide binding
- Catalytic activity
- Enables protein kinase activity
- Enables protein serine/threonine kinase activity
- Enables MAP kinase kinase activity
- Cardiofaciocutaneous Syndrome 1
- Lung Cancer
- Leopard Syndrome 3
- Noonan Syndrome 7
- Colorectal Cancer
- Noonan Syndrome With Multiple Lentigines
- Pseudo-Turner Syndrome
- Noonan Syndrome And Noonan-Related Syndrome
- Ganglioglioma
- Nonseminomatous Germ Cell Tumor
- Tethered Spinal Cord Syndrome
- Phace Association
- Syringocystadenoma Papilliferum
- Classic Hairy Cell Leukemia
- Differentiated Thyroid Carcinoma
- Lymphoma, Non-Hodgkin, Familial
- Thyroid Cancer, Nonmedullary, 1
- Leopard Syndrome 1
- Wilms Tumor 5
- Cardiomyopathy, Familial Hypertrophic, 4
- Langerhans Cell Histiocytosis
- Lung Cancer Susceptibility 3
BRAF localizations – Subcellular Localization Database
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]
Tumor type associations:
- Bladder
- Breast
- Cervical
- Colorectal
- Endometrial
- Esophageal
- Gastric
- Kidney
- Liver
- Lymphoma
- Melanoma
- Ovarian
- Pancreatic
- Prostate
- Involved in MAPK cascade
- Positive regulation of protein phosphorylation
- Myeloid progenitor cell differentiation
- Involved in protein phosphorylation
- Signal transduction
- Located in nucleus
- Cytoplasm
- Mitochondrion
- Located in cytosol
- Located in plasma membrane
- Nucleotide binding
- Catalytic activity
- Enables protein kinase activity
- Enables protein serine/threonine kinase activity
- Enables MAP kinase kinase activity
- Cardiofaciocutaneous Syndrome 1
- Lung Cancer
- Leopard Syndrome 3
- Noonan Syndrome 7
- Colorectal Cancer
- Noonan Syndrome With Multiple Lentigines
- Pseudo-Turner Syndrome
- Noonan Syndrome And Noonan-Related Syndrome
- Ganglioglioma
- Nonseminomatous Germ Cell Tumor
- Tethered Spinal Cord Syndrome
- Phace Association
- Syringocystadenoma Papilliferum
- Classic Hairy Cell Leukemia
- Differentiated Thyroid Carcinoma
- Lymphoma, Non-Hodgkin, Familial
- Thyroid Cancer, Nonmedullary, 1
- Leopard Syndrome 1
- Wilms Tumor 5
- Cardiomyopathy, Familial Hypertrophic, 4
- Langerhans Cell Histiocytosis
- Lung Cancer Susceptibility 3
BRAF localizations – Subcellular Localization Database
Gene Location
