Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
673
Gene name Gene Name - the full gene name approved by the HGNC.
B-Raf proto-oncogene, serine/threonine kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BRAF
Synonyms (NCBI Gene) Gene synonyms aliases
B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q34
Summary Summary of gene provided in NCBI Entrez Gene.
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,
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs113488022 A>C,G,T Pathogenic, likely-pathogenic, uncertain-significance, other, drug-response Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913225 A>G Likely-pathogenic Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913226 TTT>- Likely-pathogenic Non coding transcript variant, inframe deletion, intron variant, coding sequence variant
rs121913227 AC>CT,TT Drug-response, pathogenic Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913335 T>G Likely-pathogenic Non coding transcript variant, intron variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT045803 hsa-miR-191-5p CLASH 23622248
MIRT043975 hsa-miR-378a-5p CLASH 23622248
MIRT037574 hsa-miR-744-5p CLASH 23622248
MIRT053218 hsa-miR-143-3p Luciferase reporter assay, qRT-PCR, Western blot 23128394
MIRT053219 hsa-miR-145-5p Luciferase reporter assay, qRT-PCR, Western blot 23128394
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IDA 18567582, 29433126
GO:0000166 Function Nucleotide binding IEA
GO:0002318 Process Myeloid progenitor cell differentiation IEA
GO:0003824 Function Catalytic activity IEA
GO:0004672 Function Protein kinase activity IDA 17563371
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164757 1097 ENSG00000157764
Protein
UniProt ID P15056
Protein name Serine/threonine-protein kinase B-raf (EC 2.7.11.1) (Proto-oncogene B-Raf) (p94) (v-Raf murine sarcoma viral oncogene homolog B1)
Protein function Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). Phosph
PDB 1UWH , 1UWJ , 2FB8 , 2L05 , 3C4C , 3D4Q , 3IDP , 3II5 , 3NY5 , 3OG7 , 3PPJ , 3PPK , 3PRF , 3PRI , 3PSB , 3PSD , 3Q4C , 3Q96 , 3SKC , 3TV4 , 3TV6 , 4CQE , 4DBN , 4E26 , 4E4X , 4EHE , 4EHG , 4FC0 , 4FK3 , 4G9C , 4G9R , 4H58 , 4JVG , 4KSP , 4KSQ , 4MBJ , 4MNE , 4MNF , 4PP7 , 4R5Y , 4RZV , 4RZW , 4WO5 , 4XV1 , 4XV2 , 4XV3 , 4XV9 , 4YHT , 5C9C , 5CSW , 5CSX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02196 RBD 156 225 Raf-like Ras-binding domain Domain
PF00130 C1_1 235 282 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF07714 PK_Tyr_Ser-Thr 457 714 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Brain and testis.
Sequence
MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVWNIKQMIKLTQEH
IEALLDKFGGEHNPPSIYLEAYEEYTSKLDALQQREQQLLESLGNGTDFSVSSSASMDTV
TSSSSSSLSVLPSSLSVFQNPTDVARSNPKSPQKPIVRVFLPNKQRTVVPARCGVTVRDS
LKKALMMRGLIPECCAVYRIQDGEKKPIGWDTDISWLTGEELHVE
VLENVPLTTHNFVRK
TFFTLAFCDFCRKLLFQGFRCQTCGYKFHQRCSTEVPLMCVN
YDQLDLLFVSKFFEHHPI
PQEEASLAETALTSGSSPSAPASDSIGPQILTSPSPSKSIPIPQPFRPADEDHRNQFGQR
DRSSSAPNVHINTIEPVNIDDLIRDQGFRGDGGSTTGLSATPPASLPGSLTNVKALQKSP
GPQRERKSSSSSEDRNRMKTLGRRDSSDDWEIPDGQITVGQRIGSGSFGTVYKGKWHGDV
AVKMLNVTAPTPQQLQAFKNEVGVLRKTRHVNILLFMGYSTKPQLAIVTQWCEGSSLYHH
LHIIETKFEMIKLIDIARQTAQGMDYLHAKSIIHRDLKSNNIFLHEDLTVKIGDFGLATV
KSRWSGSHQFEQLSGSILWMAPEVIRMQDKNPYSFQSDVYAFGIVLYELMTGQLPYSNIN
NRDQIIFMVGRGYLSPDLSKVRSNCPKAMKRLMAECLKKKRDERPLFPQILASI
ELLARS
LPKIHRSASEPSLNRAGFQTEDFSLYACASPKTPIQAGGYGAFPVH
Sequence length 766
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
MAPK signaling pathway
ErbB signaling pathway
Rap1 signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
FoxO signaling pathway
mTOR signaling pathway
Vascular smooth muscle contraction
Focal adhesion
Natural killer cell mediated cytotoxicity
Long-term potentiation
Neurotrophin signaling pathway
Serotonergic synapse
Long-term depression
Regulation of actin cytoskeleton
Insulin signaling pathway
Progesterone-mediated oocyte maturation
Parathyroid hormone synthesis, secretion and action
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Alcoholism
Hepatitis C
Hepatitis B
Pathways in cancer
Proteoglycans in cancer
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Renal cell carcinoma
Pancreatic cancer
Endometrial cancer
Glioma
Prostate cancer
Thyroid cancer
Melanoma
Bladder cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  Spry regulation of FGF signaling
Frs2-mediated activation
RAF activation
MAP2K and MAPK activation
Negative feedback regulation of MAPK pathway
Negative regulation of MAPK pathway
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Signaling downstream of RAS mutants
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
ardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome 1 rs180177042, rs397507483, rs121913348, rs180177037, rs397507476, rs397507484, rs180177039, rs121913375, rs397516892, rs180177038, rs1585930903, rs121913355, rs397516903, rs387906660, rs1586237312
View all (13 more)
N/A
Cardiofaciocutaneous syndrome cardio-facio-cutaneous syndrome rs180177034, rs1586140512, rs397507476, rs121913349, rs397516892, rs121913348, rs121913337, rs180177042, rs113488022, rs397516893, rs397507465, rs121913338, rs397507473, rs397507484, rs180177038
View all (23 more)
N/A
LEOPARD Syndrome leopard syndrome 3 rs180177035, rs397507466, rs387906661 N/A
lung adenocarcinoma Lung adenocarcinoma rs121913364, rs121913351, rs121913370, rs397516896, rs121913366 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Anaplastic Astrocytoma anaplastic astrocytoma N/A N/A GenCC
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Cardiomyopathy Primary dilated cardiomyopathy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 36003386
Abdominal Pain Associate 37358854
Aberrant Crypt Foci Associate 15793287, 25314065, 29222172
Abnormalities Drug Induced Associate 38066633
Absent Eyebrows and Eyelashes with Mental Retardation Associate 37697378
Accessory Atrioventricular Bundle Associate 37352472
Acromegaly Associate 25329702
ACTH Secreting Pituitary Adenoma Associate 30093687
Acute erythroleukemia Associate 30385823
Adenoameloblastoma Associate 37093491