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Aliases for BRAF Gene

Aliases for BRAF Gene

  • B-Raf Proto-Oncogene, Serine/Threonine Kinase 2 3
  • V-Raf Murine Sarcoma Viral Oncogene Homolog B1 3 4
  • V-Raf Murine Sarcoma Viral Oncogene Homolog B 2 3
  • Proto-Oncogene B-Raf 3 4
  • BRAF1 3 4
  • RAFB1 3 4
  • NS7 3 6
  • B-Raf Proto-Oncogene Serine/Threonine-Protein Kinase (P94) 3
  • Murine Sarcoma Viral (V-Raf) Oncogene Homolog B1 3
  • Serine/Threonine-Protein Kinase B-Raf 3
  • 94 KDa B-Raf Protein 3
  • EC 2.7.11.1 4
  • B-RAF1 3
  • P94 4

External Ids for BRAF Gene

Previous GeneCards Identifiers for BRAF Gene

  • GC07M138705
  • GC07M139764
  • GC07M139841
  • GC07M139754
  • GC07M139887
  • GC07M140080
  • GC07M140424
  • GC07M134729

Summaries for BRAF Gene

Entrez Gene Summary for BRAF Gene

  • This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for BRAF Gene

BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase) is a Protein Coding gene. Diseases associated with BRAF include noonan syndrome 7 and leopard syndrome 3. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include calcium ion binding and protein serine/threonine kinase activity. An important paralog of this gene is MAP3K9.

UniProtKB/Swiss-Prot for BRAF Gene

  • 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.

Tocris Summary for BRAF Gene

  • 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 (or c-Raf) is activated by GTP-bound Ras and recruited to the cell membrane. This activation process is tightly regulated by a number of factors including phosphatases (e.g. PP1, PP2A, PP5), kinases (e.g. Src, ERK, Akt, PKC) and proteins that bind directly to Raf-1 (e.g. RKIP, 14-3-3zeta, KSR, Hsp90). Raf-1 is also thought to be able to dimerize with wild type B-Raf in a Ras-dependent process. B-raf is commonly mutated and thereby activated in many human cancers, the most frequent mutation being the V600E mutation of the kinase domain. Whilst wt b-Raf and Raf-1 are strongly activated by growth factor signals via Ras and Src, a-Raf is only modestly activated and has low basal activity. All three isoforms of Raf are considered to be oncogenic.

Gene Wiki entry for BRAF Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRAF Gene

Genomics for BRAF Gene

Regulatory Elements for BRAF Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BRAF Gene

Start:
140,719,327 bp from pter
End:
140,924,764 bp from pter
Size:
205,438 bases
Orientation:
Minus strand

Genomic View for BRAF Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BRAF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRAF Gene

Proteins for BRAF Gene

  • Protein details for BRAF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15056-BRAF_HUMAN
    Recommended name:
    Serine/threonine-protein kinase B-raf
    Protein Accession:
    P15056
    Secondary Accessions:
    • A4D1T4
    • B6HY61
    • B6HY62
    • B6HY63
    • B6HY64
    • B6HY65
    • B6HY66
    • Q13878
    • Q3MIN6
    • Q9UDP8
    • Q9Y6T3

    Protein attributes for BRAF Gene

    Size:
    766 amino acids
    Molecular mass:
    84437 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 2 Zn(2+) ions per subunit.;
    Quaternary structure:
    • Monomer. Homodimer. Heterodimerizes with RAF1, and the heterodimer possesses a highly increased kinase activity compared to the respective homodimers or monomers. Heterodimerization is mitogen-regulated and enhanced by 14-3-3 proteins. MAPK1/ERK2 activation can induce a negative feedback that promotes the dissociation of the heterodimer by phosphorylating BRAF at Thr-753. Found in a complex with at least BRAF, HRAS, MAP2K1, MAPK3 and RGS14. Interacts with RIT1. Interacts (via N-terminus) with RGS14 (via RBD domains); the interaction mediates the formation of a ternary complex with RAF1, a ternary complex inhibited by GNAI1 (By similarity). Interacts with DGKH. Interacts with PRMT5. Interacts with KSR2.
    SequenceCaution:
    • Sequence=AAD43193.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAQ43111.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAQ43112.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAQ43113.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAQ43114.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAQ43115.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAQ43116.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BRAF Gene

neXtProt entry for BRAF Gene

Proteomics data for BRAF Gene at MOPED

Post-translational modifications for BRAF Gene

  • Methylation at Arg-671 decreases stability and kinase activity.
  • Phosphorylation at Ser-365 by SGK1 inhibits its activity.
  • Ubiquitinated by RNF149; which leads to proteasomal degradation. Polyubiquitinated at Lys-578 in response to EGF.
  • Ubiquitination at Lys578
  • Modification sites at PhosphoSitePlus

Other Protein References for BRAF Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BRAF (BRAF)

No data available for DME Specific Peptides for BRAF Gene

Domains for BRAF Gene

Gene Families for BRAF Gene

Graphical View of Domain Structure for InterPro Entry

P15056

UniProtKB/Swiss-Prot:

BRAF_HUMAN :
  • P15056
Domain:
  • Contains 1 protein kinase domain.
  • Contains 1 RBD (Ras-binding) domain.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily.
Similarity:
  • Contains 1 phorbol-ester/DAG-type zinc finger.
genes like me logo Genes that share domains with BRAF: view

Function for BRAF Gene

Molecular function for BRAF Gene

GENATLAS Biochemistry: murine sarcoma 3611 viral (v-raf) oncogene homolog B1 (Rmil),expressed in cerebrum and testis,fused with TIF1A to form the oncoprotein T18
UniProtKB/Swiss-Prot CatalyticActivity: ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation: Activity is increased by EGF and HGF
UniProtKB/Swiss-Prot Function: 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.

Enzyme Numbers (IUBMB) for BRAF Gene

Gene Ontology (GO) - Molecular Function for BRAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IDA 17563371
GO:0004674 protein serine/threonine kinase activity IDA 19667065
GO:0004709 MAP kinase kinase kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
GO:0005057 receptor signaling protein activity --
genes like me logo Genes that share ontologies with BRAF: view
genes like me logo Genes that share phenotypes with BRAF: view

Animal Models for BRAF Gene

MGI Knock Outs for BRAF:

Animal Model Products

CRISPR Products

miRNA for BRAF Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BRAF

In Situ Assay Products

Flow Cytometry Products

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

Localization for BRAF Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRAF Gene

Nucleus. Cytoplasm. Cell membrane. Note=Colocalizes with RGS14 and RAF1 in both the cytoplasm and membranes. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BRAF Gene COMPARTMENTS Subcellular localization image for BRAF gene
Compartment Confidence
cytosol 4
plasma membrane 4
nucleus 2

Gene Ontology (GO) - Cellular Components for BRAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with BRAF: view

Pathways for BRAF Gene

genes like me logo Genes that share pathways with BRAF: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for BRAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IEA --
GO:0000186 activation of MAPKK activity TAS --
GO:0002318 myeloid progenitor cell differentiation IEA --
GO:0006468 protein phosphorylation IDA 17563371
GO:0007165 signal transduction --
genes like me logo Genes that share ontologies with BRAF: view

Compounds for BRAF Gene

Compound Products

(5) Tocris Compounds for BRAF Gene

Compound Action Cas Number
AZ 628 Potent Raf kinase inhibitor [878739-06-1]
GDC 0879 Potent B-Raf inhibitor [905281-76-7]
GW 5074 Potent, selective c-Raf1 kinase inhibitor [220904-83-6]
ML 786 dihydrochloride Potent Raf kinase inhibitor; orally bioavailable [1237536-18-3]
SB 590885 Potent B-Raf inhibitor [405554-55-4]

(13) ApexBio Compounds for BRAF Gene

Compound Action Cas Number
AZ 628 selective RAF inhibitor. [878739-06-1]
B-Raf inhibitor useful in the treatment of cancer and proliferative diseases. [1315330-11-0]
BRAF inhibitor a potent BRAF inhibitor. [918505-61-0]
CEP-32496 Potent BRAF inhibitor [1188910-76-0]
Dabrafenib Mesylate (GSK-2118436) selective BRAFV600E inhibitor [1195768-06-9]
GDC-0879 Potent and selective B-Raf inhibitor [905281-76-7]
PF-04880594 RAF inhibitor for BRAF/BRAFV599E and c-RAF. [1111636-35-1]
PLX-4720 Potent and selective inhibitor of BRAF with V600E mutation [918505-84-7]
RAF265 Potent and selective Raf inhibitor, also inhibits VEGFR [927880-90-8]
Sorafenib Multi-target kinase inhibitor of Raf kinases and tyrosine kinases [284461-73-0]
TAK-632 Pan-Raf inhibitor [1228591-30-7]
Vemurafenib (PLX4032, RG7204) Potent and selective inhibitor of BRAF with V600E mutation [918504-65-1]
ZM336372 reversible tyrosine kinase modulator selectively inhibiting protein kinase Raf-1. [208260-29-1]

(845) HMDB Compounds for BRAF Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
DG(14:0/14:0/0:0)
  • DAG(14:0/14:0)
Not Available
DG(14:0/14:1(9Z)/0:0)
  • DAG(14:0/14:1)
Not Available
DG(14:0/15:0/0:0)
  • Diacylglycerol(29:0)
Not Available

(58) Novoseek inferred chemical compound relationships for BRAF Gene

Compound -log(P) Hits PubMed IDs
crcs 79.1 21
panitumumab 77.9 9
cetuximab 71.4 20
sorafenib 71.2 28
threonine 60.8 35

(3) PharmGKB related drug/compound annotations for BRAF Gene

Drug/compound Annotation
dabrafenib
trametinib
vemurafenib
genes like me logo Genes that share compounds with BRAF: view

Transcripts for BRAF Gene

Unigene Clusters for BRAF Gene

V-raf murine sarcoma viral oncogene homolog B1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BRAF

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BRAF Gene

No ASD Table

Relevant External Links for BRAF Gene

GeneLoc Exon Structure for
BRAF
ECgene alternative splicing isoforms for
BRAF

Expression for BRAF Gene

mRNA expression in normal human tissues for BRAF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BRAF Gene

SOURCE GeneReport for Unigene cluster for BRAF Gene Hs.550061

mRNA Expression by UniProt/SwissProt for BRAF Gene

P15056-BRAF_HUMAN
Tissue specificity: Brain and testis
genes like me logo Genes that share expressions with BRAF: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for BRAF Gene

Orthologs for BRAF Gene

This gene was present in the common ancestor of animals.

Orthologs for BRAF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BRAF 35
  • 99.78 (n)
  • 99.87 (a)
BRAF 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BRAF 35
  • 95.48 (n)
  • 98.55 (a)
BRAF 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BRAF 35
  • 94.73 (n)
  • 98.99 (a)
BRAF 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Braf 35
  • 92.6 (n)
  • 97.07 (a)
Braf 16
Braf 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BRAF 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRAF 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Braf 35
  • 91.99 (n)
  • 96.93 (a)
chicken
(Gallus gallus)
Aves BRAF 35
  • 85.58 (n)
  • 94.63 (a)
BRAF 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRAF 36
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia BRAF 35
tropical clawed frog
(Silurana tropicalis)
Amphibia braf 35
  • 76.82 (n)
  • 88.86 (a)
Str.13377 35
zebrafish
(Danio rerio)
Actinopterygii braf 35
  • 73.32 (n)
  • 88.07 (a)
braf 36
  • 80 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004699 35
  • 55.01 (n)
  • 53.32 (a)
fruit fly
(Drosophila melanogaster)
Insecta phl 35
  • 52.06 (n)
  • 49.14 (a)
phl 36
  • 43 (a)
OneToMany
phl 37
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea lin-45 35
  • 52.97 (n)
  • 50.97 (a)
lin-45 36
  • 35 (a)
OneToMany
lin-45 37
  • 54 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3462 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10630 36
  • 43 (a)
OneToMany
Species with no ortholog for BRAF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BRAF Gene

ENSEMBL:
Gene Tree for BRAF (if available)
TreeFam:
Gene Tree for BRAF (if available)

Paralogs for BRAF Gene

Pseudogenes.org Pseudogenes for BRAF Gene

genes like me logo Genes that share paralogs with BRAF: view

Variants for BRAF Gene

Sequence variations from dbSNP and Humsavar for BRAF Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs722011 -- 140,857,338(+) CCTTA(C/T)TGTCT intron-variant
rs964942 -- 140,922,555(+) CTACT(C/T)ATTAC intron-variant
rs986050 -- 140,791,128(+) caaaa(A/C)CCGAA intron-variant
rs1009772 -- 140,728,200(-) cctca(C/T)agggt intron-variant
rs1045559 -- 140,721,698(+) CATTT(C/T)AAGGA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for BRAF Gene

Variant ID Type Subtype PubMed ID
nsv831158 CNV Loss 17160897
nsv518139 CNV Loss 19592680
esv2656982 CNV Deletion 23128226
esv2672232 CNV Deletion 23128226
esv2735245 CNV Deletion 23290073

Relevant External Links for BRAF Gene

HapMap Linkage Disequilibrium report
BRAF
Human Gene Mutation Database (HGMD)
BRAF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRAF Gene

Disorders for BRAF Gene

(4) OMIM Diseases for BRAF Gene (164757)

UniProtKB/Swiss-Prot

BRAF_HUMAN
  • Note=Defects in BRAF are found in a wide range of cancers. {ECO:0000269 PubMed:18974108}.
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:12198537, ECO:0000269 PubMed:23263490, ECO:0000269 PubMed:24455489}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Lung cancer (LNCR) [MIM:211980]: A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. {ECO:0000269 PubMed:12460919}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Familial non-Hodgkin lymphoma (NHL) [MIM:605027]: Cancer that starts in cells of the lymph system, which is part of the bodys immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss. {ECO:0000269 PubMed:14612909}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]: A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. {ECO:0000269 PubMed:16439621, ECO:0000269 PubMed:16474404, ECO:0000269 PubMed:18042262, ECO:0000269 PubMed:19206169}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Noonan syndrome 7 (NS7) [MIM:613706]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269 PubMed:19206169}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • LEOPARD syndrome 3 (LPRD3) [MIM:613707]: A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269 PubMed:19206169}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving BRAF is found in pilocytic astrocytomas. A tandem duplication of 2 Mb at 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducing cell transformation. {ECO:0000269 PubMed:18974108}.

(1) University of Copenhagen DISEASES for BRAF Gene

(97) Novoseek inferred disease relationships for BRAF Gene

Disease -log(P) Hits PubMed IDs
thyroid papillary carcinoma 91.4 133
cfc syndrome 89.8 16
microsatellite instability 89.4 101
papillary thyroid cancer 86.7 51
melanoma 85.4 389

Relevant External Links for BRAF

GeneTests
BRAF
GeneReviews
BRAF
Genetic Association Database (GAD)
BRAF
Human Genome Epidemiology (HuGE) Navigator
BRAF
genes like me logo Genes that share disorders with BRAF: view

Publications for BRAF Gene

  1. Chromosomal assignment of two human B-raf(Rmil) proto-oncogene loci: B-raf-1 encoding the p94Braf/Rmil and B-raf-2, a processed pseudogene. (PMID: 1630826) Eychene A. … Calothy G. (Oncogene 1992) 3 4 23
  2. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. (PMID: 12198537) Rajagopalan H. … Velculescu V.E. (Nature 2002) 3 4 23
  3. Missense mutations of the BRAF gene in human lung adenocarcinoma. (PMID: 12460919) Naoki K. … Meyerson M. (Cancer Res. 2002) 3 4 23
  4. Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers. (PMID: 12970315) Namba H. … Yamashita S. (J. Clin. Endocrinol. Metab. 2003) 3 23 48
  5. Suppression of BRAF(V599E) in human melanoma abrogates transformation. (PMID: 14500344) Hingorani S.R. … Tuveson D.A. (Cancer Res. 2003) 3 4 23

Products for BRAF Gene

  • Addgene plasmids for BRAF

Sources for BRAF Gene

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