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BRAF Gene(Protein Coding)

B-Raf Proto-Oncogene, Serine/Threonine Kinase

GCID:
GC07M140719
GIFtS:
78
Genes Participants
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Aliases for BRAF Gene

Aliases for BRAF Gene

  • B-Raf Proto-Oncogene, Serine/Threonine Kinase 2 3 5
  • 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
  • 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
  • B-Raf 3
  • NS7 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]

CIViC summary for BRAF Gene

  • BRAF mutations are found to be recurrent in many cancer types. Of these, the mutation of valine 600 to glutamic acid (V600E) is the most prevalent. V600E has been determined to be an activating mutation, and cells that harbor it, along with other V600 mutations are sensitive to the BRAF inhibitor dabrafenib. It is also common to use MEK inhibition as a substitute for BRAF inhibitors, and the MEK inhibitor trametinib has seen some success in BRAF mutant melanomas. BRAF mutations have also been correlated with poor prognosis in many cancer types, although there is at least one study that questions this conclusion in papillary thyroid cancer.

GeneCards Summary for BRAF Gene

BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase) is a Protein Coding gene. Diseases associated with BRAF include Cardiofaciocutaneous Syndrome and Lung Cancer. Among its related pathways are Trk receptor signaling mediated by the MAPK pathway and mTOR Pathway. GO annotations related to this gene include calcium ion binding and transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is RAF1.

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 (c-Raf) is activated by GTP-bound Ras and recruited to the cell membrane. This activation process is tightly regulated.

Gene Wiki entry for BRAF Gene

PharmGKB "VIP" Summary for BRAF Gene

No data available for fRNAdb sequence ontologies and piRNA Summary for BRAF Gene

Genomics for BRAF Gene

Products:

  1. Regulatory Element

Regulatory Elements for BRAF Gene

Enhancers for BRAF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G140972 1.1 ENCODE 21.2 -48.5 -48533 1.7 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 FEZF1 BRAF TMEM178B TAS2R6P NDUFB2-AS1 NDUFB2 TAS2R5 CCT4P1 LOC105375536
GH07G140672 1.6 FANTOM5 Ensembl ENCODE 10.8 +250.2 250154 4.8 HDGF PKNOX1 ARNT CREB3L1 SIN3A FEZF1 DMAP1 ZNF766 CBX5 ZNF207 ADCK2 BRAF KDM7A DENND2A NDUFB2
GH07G140475 1.3 Ensembl ENCODE 10.8 +448.7 448744 0.4 FOXA2 PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A FEZF1 ZNF2 YY1 BRAF MKRN1 GC07M140466
GH07G141013 1.2 ENCODE 10.8 -89.6 -89568 2.6 CREB3L1 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D GLIS1 TMEM178B BRAF NDUFB2-AS1 NDUFB2 MRPS33 CCT4P1
GH07G140637 1.2 ENCODE dbSUPER 10.8 +284.9 284925 5.6 HDGF GLI4 ZNF2 GLIS2 ZNF416 KLF7 ZNF263 YY2 ZNF488 ZFP41 NDUFB2 NDUFB2-AS1 BRAF PARP12 ADCK2 TMEM178B LOC105375535 GC07P140619
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BRAF on UCSC Golden Path with GeneCards custom track

Promoters for BRAF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000219140 264 2600 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1

Transcription factor binding sites by QIAGEN in the BRAF gene promoter:

Genomic Location for BRAF Gene

Chromosome:
7
Start:
140,715,951 bp from pter
End:
140,924,764 bp from pter
Size:
208,814 bases
Orientation:
Minus strand

Genomic View for BRAF Gene

Genes around BRAF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRAF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRAF Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BRAF Gene

Proteins for BRAF Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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;
    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 (PubMed:19710016). Interacts with PRMT5 (PubMed:21917714). Interacts with KSR2 (PubMed:21441910). Interacts with AKAP13, MAP2K1 and KSR1. Identified in a complex with AKAP13, MAP2K1 and KSR1 (PubMed:21102438). Interacts with FNIP1 and FNIP2 (PubMed:27353360).
    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

Protein Expression for BRAF Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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:
REFSEQ proteins:

No data available for DME Specific Peptides for BRAF Gene

Domains & Families for BRAF Gene

Gene Families for BRAF Gene

HGNC:
IUPHAR :

Protein Domains for BRAF Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for BRAF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15056

UniProtKB/Swiss-Prot:

BRAF_HUMAN :
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily.
genes like me logo Genes that share domains with BRAF: view

Function for BRAF Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IDA,IEA 17563371
GO:0004674 protein serine/threonine kinase activity IDA,IEA 19667065
GO:0004709 MAP kinase kinase kinase activity IBA,IEA --
GO:0005057 signal transducer activity, downstream of receptor IEA --
genes like me logo Genes that share ontologies with BRAF: view

Phenotypes for BRAF Gene

MGI mutant phenotypes for BRAF:
inferred from 18 alleles
GenomeRNAi human phenotypes for BRAF:
genes like me logo Genes that share phenotypes with BRAF: view

Human Phenotype Ontology for BRAF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BRAF Gene

MGI Knock Outs for BRAF:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BRAF gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for BRAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BRAF: view

Pathways & Interactions for BRAF Gene

SuperPathways for BRAF Gene

PathCards logo More details on SuperPathways for BRAF
SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
NCAM signaling for neurite out-growth
.89
DAP12 interactions
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.56
2 Glioma
Glioma
.47
Non-small cell lung cancer
.47
EGFR tyrosine kinase inhibitor resistance
.42
Melanoma
.41
Prostate cancer
.37
Breast cancer
.36
Signaling Pathways in Glioblastoma
.35
Endocrine resistance
.33
Vemurafenib Pathway, Pharmacodynamics
.31
3 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
IL-21 Signaling Pathways
.90
IL-7 Signaling Pathways
.90
IL-9 Signaling Pathways
.90
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
.90
IL-15 Signaling Pathways
.88
IL-2 Signaling Pathways
.88
IL-4 Signaling Pathways
.84
Development Thrombopoietin-regulated cell processes
.38
Adipokines and Insulin Signaling Pathways
.34
4 Negative regulation of FGFR1 signaling
Signaling by FGFR3
.84
Signaling by FGFR4
.84
Negative regulation of FGFR3 signaling
.82
Negative regulation of FGFR4 signaling
.82
Negative regulation of FGFR1 signaling
.81
Negative regulation of FGFR2 signaling
.81
Signaling by FGFR1
.70
Spry regulation of FGF signaling
.01
5 IL-2 Pathway
ErbB Family Pathway
.59
ErbB4 Pathway
.59
Prolactin Signaling
.54
ErbB2-ErbB3 Heterodimers
.49
UVC-Induced MAPK Signaling
.44
TREM1 Pathway
.43
IL-4 Pathway
.34
genes like me logo Genes that share pathways with BRAF: view

Pathways by source for BRAF Gene

2 Sino Biological pathways for BRAF Gene
2 GeneTex pathways for BRAF Gene
1 Cell Signaling Technology pathway for BRAF Gene
3 Tocris pathways for BRAF Gene

SIGNOR curated interactions for BRAF Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BRAF Gene

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

Drugs & Compounds for BRAF Gene

Products:

  1. Drug

(159) Drugs for BRAF Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sorafenib Approved, Investigational Pharma inhibitors, inhibitor, Target Raf kinases and tyrosine kinases inhibitor, RAF, VEGFR2, and PDGFR-beta inhibitors, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 700
Dabrafenib Approved Pharma Inhibition, inhibitor, Target BRAF kinase inhibitor, Kinase Inhibitors, Mutant BRAF Kinase 84
Trametinib Approved Pharma inhibitor, Biomarker MEK 1/2 inhibitor, MEK Inhibitors, Kinase Inhibitors, Mitogen-activated protein/extracellular signal-regulated kinase (MEK) inhibitors 131
Vemurafenib Approved Pharma inhibitor, Biomarker, activator, Target BRAF kinase inhibitor, B-RAF Inhibitors, Kinase Inhibitors, BRAF inhibitors 0
nivolumab Approved Pharma Therapeutic Antibodies, Immunotherapies 424

(32) Additional Compounds for BRAF Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
 Full agonist, Agonist 58-64-0
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Hexadecanoyl-3-(11-eicosenoyl)-sn-glycerol
  • 1-Palmitoyl-3-eicosenoyl-sn-glycerol
  • DAG(16:0/0:0/20:1)
  • DAG(16:0/0:0/20:1n9)
  • DAG(16:0/0:0/20:1w9)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)

(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
SB 590885 Potent B-Raf inhibitor 405554-55-4
ZM 336372 Potent, selective c-Raf inhibitor 208260-29-1

(25) ApexBio Compounds for BRAF Gene

Compound Action Cas Number
AZ 628 Raf kinases,potent and ATP-competitive 878739-06-1
B-Raf IN 1 950736-05-7
B-Raf inhibitor A B-Raf inhibitor 1315330-11-0
BRAF inhibitor Potent B-raf inhibitor 918505-61-0
B-Raf inhibitor 1 1093100-40-3
B-Raf inhibitor 1 dihydrochloride B-Raf inhibitor,potent and selective 1191385-19-9
CEP-32496 BRAF(V600E)inhibitor,highly potent 1188910-76-0
CEP-32496 hydrochloride B-Raf/C-Raf inhibitor,highly potent 1227678-26-3
Dabrafenib (GSK2118436) Inhibitor of BRAF(V600) mutants 1195765-45-7
Dabrafenib Mesylate (GSK-2118436) Inhibitor of BRAF(V600) mutants 1195768-06-9
GDC-0879 B-Raf inhibitor,potent and selective 905281-76-7
HG6-64-1 1315329-43-1
L-779,450 303727-31-3
LGX818 RAF inhibitor,potent and selective 1269440-17-6
LY3009120 pan-RAF and RAF dimer inhibitor 1454682-72-4
ML 786 dihydrochloride Raf kinase inhibitor 1237536-18-3
MLN 2480 Pan-Raf kinase inhibitor,investigational 1096708-71-2
PF-04880594 RAF inhibitor 1111636-35-1
PLX-4720 BRAF kinase inhibitor 918505-84-7
RAF265 Multiple intracellular kinases inhibitor 927880-90-8
SB590885 Potent B-Raf inhibitor 405554-55-4
Sorafenib Raf kinases and tyrosine kinases inhibitor 284461-73-0
Sorafenib Tosylate Raf kinases and tyrosine kinases inhibitor 475207-59-1
TAK-632 Pan-RAF inhibitor,potent and selective 1228591-30-7
Vemurafenib (PLX4032, RG7204) BRAF kinase inhibitor 918504-65-1
genes like me logo Genes that share compounds with BRAF: view

Drug Products

Transcripts for BRAF Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for BRAF Gene

(4) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(151) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BRAF Gene

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

Inhibitory RNA 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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BRAF Gene

mRNA expression in normal human tissues for BRAF Gene
mRNA expression by BioGPS for BRAF GenemRNA expression by GTEx for BRAF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BRAF Gene

This gene is overexpressed in Fetal Brain (22.8), Frontal cortex (19.4), and Testis (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BRAF Gene



Protein tissue co-expression partners for BRAF Gene

NURSA nuclear receptor signaling pathways regulating expression of BRAF Gene:

BRAF

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.

Evidence on tissue expression from TISSUES for BRAF Gene

  • Nervous system(4.6)
  • Liver(4.2)
  • Intestine(2.3)
  • Thyroid gland(2.3)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BRAF Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pituitary gland
  • scalp
  • skull
  • thyroid
  • tongue
  • tooth
Thorax:
  • aorta
  • breast
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • spleen
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • rectum
  • testicle
  • ureter
  • urethra
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with BRAF: view

Primer 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 34 35
  • 99.78 (n)
cow
(Bos Taurus)
 Mammalia BRAF 34 35
  • 95.48 (n)
oppossum
(Monodelphis domestica)
 Mammalia BRAF 35
  • 95 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia BRAF 34 35
  • 94.73 (n)
mouse
(Mus musculus)
 Mammalia Braf 16 35 34
  • 92.6 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia BRAF 35
  • 92 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Braf 34
  • 91.99 (n)
chicken
(Gallus gallus)
 Aves BRAF 35 34
  • 85.58 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia BRAF 35
  • 84 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia braf 34
  • 76.82 (n)
Str.13377 34
African clawed frog
(Xenopus laevis)
 Amphibia BRAF 34
zebrafish
(Danio rerio)
 Actinopterygii braf 34 35
  • 73.32 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004699 34
  • 55.01 (n)
fruit fly
(Drosophila melanogaster)
 Insecta phl 36 34 35
  • 52.06 (n)
worm
(Caenorhabditis elegans)
 Secernentea lin-45 36 34 35
  • 52.97 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.10630 35
  • 43 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.3462 34
Species where no ortholog for BRAF was found in the sources mined by GeneCards:
  • 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

Paralogs for BRAF Gene

(139) SIMAP similar genes for BRAF Gene using alignment to 8 proteins:

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
rs113488022 Pathogenic, Colorectal cancer (CRC) [MIM:114500] 140,753,336(-) TACAG(A/C/G/T)GAAAT intron-variant, nc-transcript-variant, reference, missense
rs121913338 Pathogenic, Familial non-Hodgkin lymphoma (NHL) [MIM:605027] 140,753,354(-) AGGTG(A/G/T)TTTTG intron-variant, nc-transcript-variant, reference, missense
rs121913340 Uncertain significance, Ovarian cancer 140,753,379(-) TTCAT(A/G)AAGAC intron-variant, nc-transcript-variant, reference, missense
rs121913341 Pathogenic, Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150], Colon cancer 140,753,350(-) GATTT(A/G/T)GGTCT intron-variant, nc-transcript-variant, reference, missense
rs121913348 Pathogenic, Colorectal cancer (CRC) [MIM:114500], A colorectal cancer cell line 140,781,617(-) AATTG(A/C/G/T)ATCTG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv6643n100 CNV gain 25217958
dgv6644n100 CNV gain 25217958
dgv6645n100 CNV gain 25217958
esv2656982 CNV deletion 23128226
esv2672232 CNV deletion 23128226
esv2735245 CNV deletion 23290073
esv2761117 CNV loss 21179565
esv3542526 CNV deletion 23714750
esv3542527 CNV deletion 23714750
esv3615242 CNV loss 21293372
esv3615243 CNV loss 21293372
esv3615244 CNV loss 21293372
nsv1015269 CNV gain 25217958
nsv1015486 CNV gain 25217958
nsv1029363 CNV gain 25217958
nsv1030989 CNV gain 25217958
nsv1033652 CNV loss 25217958
nsv1124273 CNV deletion 24896259
nsv1130869 CNV deletion 24896259
nsv518139 CNV loss 19592680
nsv831158 CNV loss 17160897

Variation tolerance for BRAF Gene

Residual Variation Intolerance Score: 9.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.63; 31.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BRAF Gene

Human Gene Mutation Database (HGMD)
BRAF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRAF

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

Disorders for BRAF Gene

MalaCards: The human disease database

(74) MalaCards diseases for BRAF Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiofaciocutaneous syndrome
  • cardio-facial-cutaneous syndrome
lung cancer
  • lung cancer, protection against
noonan syndrome 7
  • ns7
colorectal cancer
  • colorectal cancer, somatic
leopard syndrome 3
  • lprd3
- elite association - COSMIC cancer census association via MalaCards
Search BRAF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BRAF_HUMAN
  • 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.
  • 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:21917714, ECO:0000269 PubMed:23263490, ECO:0000269 PubMed:24455489}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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}.
  • Note=Defects in BRAF are found in a wide range of cancers. {ECO:0000269 PubMed:18974108}.

Relevant External Links for BRAF

Genetic Association Database (GAD)
BRAF
Human Genome Epidemiology (HuGE) Navigator
BRAF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BRAF
genes like me logo Genes that share disorders with BRAF: view

No data available for Genatlas for BRAF Gene

Publications for BRAF Gene

  1. Prognostic and predictive value of TOPK stratified by KRAS and BRAF gene alterations in sporadic, hereditary and metastatic colorectal cancer patients. (PMID: 19935791) Zlobec I. … Lugli A. (Br. J. Cancer 2010) 3 22 46 64
  2. Mitogen-activated protein kinase phosphatase-1 (MKP-1) impairs the response to anti-epidermal growth factor receptor (EGFR) antibody cetuximab in metastatic colorectal cancer patients. (PMID: 20234366) Montagut C. … Albanell J. (Br. J. Cancer 2010) 3 22 46 64
  3. Molecular analysis of PIK3CA, BRAF, and RAS oncogenes in periampullary and ampullary adenomas and carcinomas. (PMID: 19440799) SchAPnleben F. … Su G.H. (J. Gastrointest. Surg. 2009) 3 22 46 64
  4. BRAF mutation testing of thyroid fine-needle aspiration biopsy specimens for preoperative risk stratification in papillary thyroid cancer. (PMID: 19414674) Xing M. … Tufano R. (J. Clin. Oncol. 2009) 3 22 46 64
  5. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. (PMID: 19206169) Sarkozy A. … Tartaglia M. (Hum. Mutat. 2009) 3 4 22 64

Products for BRAF Gene

  • Addgene plasmids for BRAF

Sources for BRAF Gene

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