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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BRAF Gene

protein-coding   GIFtS: 72
GCID: GC07M140424

v-raf murine sarcoma viral oncogene homolog B1

 Explore 150 diseases affiliated with
BRAF via our new
 Human Malady Compendium 
Biological research products
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
V-Raf Murine Sarcoma Viral Oncogene Homolog B11 2 3     94 KDa B-Raf Protein2
BRAF11 2 3     B-RAF12
Proto-Oncogene B-Raf2 3     B-Raf Proto-Oncogene Serine/Threonine-Protein Kinase (P94)2
RAFB12 3     Murine Sarcoma Viral (V-Raf) Oncogene Homolog B12
P941     Serine/Threonine-Protein Kinase B-Raf2
NS72 5     EC 2.7.11.13

External Ids:    HGNC: 10971   Entrez Gene: 6732   Ensembl: ENSG000001577647   OMIM: 1647575   UniProtKB: P150563   

Export aliases for BRAF gene to outside databases

Previous GC identifers: GC07M138705 GC07M139764 GC07M139841 GC07M139754 GC07M139887 GC07M140080 GC07M134729


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BRAF:
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)

UniProtKB/Swiss-Prot: BRAF_HUMAN, P15056
Function: 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

summary for BRAF:
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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007914.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BRAF gene promoter:
         p53   AP-1   ATF-2   E2F-2   C/EBPalpha   E2F   E2F-1   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): BRAF promoter sequence
   Search SABiosciences Chromatin IP Primers for BRAF

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BRAF


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q34   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q34

BRAF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BRAF gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M140424:  view genomic region     (about GC identifiers)

Start:
140,424,943 bp from pter      End:
140,624,564 bp from pter
Size:
199,622 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 139,771,989-139,962,886     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BRAF_HUMAN, P15056 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase B-raf  
Size: 766 amino acids; 84437 Da
Cofactor: Binds 2 zinc ions per subunit (By similarity)
Subunit: 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, HRAS1, 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
Subcellular location: Nucleus (By similarity). Cytoplasm. Cell membrane (By similarity). Note=Colocalizes with RGS14
and RAF1 in both the cytoplasm and membranes (By similarity)
Sequence caution: Sequence=AAD43193.1; Type=Erroneous gene model prediction; Sequence=CAQ43111.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=CAQ43112.1; Type=Erroneous initiation; Note=Translation
N-terminally shortened; Sequence=CAQ43113.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAQ43114.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAQ43115.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAQ43116.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened;
6/27 PDB 3D structures from and Proteopedia for BRAF (see all 27):
1UWH (3D)        1UWJ (3D)        2FB8 (3D)        2L05 (3D)        3C4C (3D)        3D4Q (3D)    
Secondary accessions: A4D1T4 B6HY61 B6HY62 B6HY63 B6HY64 B6HY65 B6HY66 Q13878 Q3MIN6 Q9UDP8 Q9Y6T3

Explore the universe of human proteins at neXtProt for BRAF: NX_P15056

Post-translational modifications:

  • Phosphorylation at Ser-365 by SGK1 inhibits its activity1
  • Methylation at Arg-671 decreases stability and kinase activity1
  • Ubiquitinated by RNF149; which leads to proteasomal degradation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P15056

  • BRAF Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004324.2  
    ENSEMBL proteins: 
     ENSP00000419060   ENSP00000288602   ENSP00000418033   ENSP00000420119  
    Reactome Protein details: P15056
    Human Recombinant Protein Products: 
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    Novus Biologicals BRAF Proteins
    Novus Biologicals BRAF Lysate
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    Uscn Proteins for BRAF

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005625soluble fraction ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--


    BRAF for ontologies           About GeneDecksing



    BRAF Antibody Products: 
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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for BRAF


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BRAF for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR017441 Protein_kinase_ATP_BS
     IPR001245 Ser-Thr/Tyr_kinase_cat_dom
     IPR020454 DAG/PE-bd
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS

    Graphical View of Domain Structure for InterPro Entry P15056

    ProtoNet protein and cluster: P15056

    2 Blocks protein families:
    IPB002219 Protein kinase C
    IPB003116 Raf-like Ras-binding


    UniProtKB/Swiss-Prot: BRAF_HUMAN, P15056
    Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily
    Similarity: Contains 1 phorbol-ester/DAG-type zinc finger
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 1 RBD (Ras-binding) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: BRAF_HUMAN, P15056
    Function: 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
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Activity is increased by EGF and HGF

         Genatlas biochemistry entry for BRAF:
    murine sarcoma 3611 viral (v-raf) oncogene homolog B1 (Rmil),expressed in cerebrum and testis,fused with TIF1A to form
    the oncoprotein T18

    Enzyme Number (IUBMB): EC 2.7.11.11

    miRNA
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    hsa-miR-9 hsa-miR-659
    SwitchGear 3'UTR luciferase reporter plasmidBRAF 3' UTR sequence
    Inhib. RNA
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    Clone
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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity IDA17563371
    GO:0004674protein serine/threonine kinase activity IDA19667065
    GO:0004709MAP kinase kinase kinase activity ----
    GO:0005057receptor signaling protein activity IEA--
    GO:0005509calcium ion binding IDA18567582


    BRAF for ontologies           About GeneDecksing


    4 GenomeRNAi human phenotypes for BRAF:
     Decreased substrate adherent c  Synthetic lethal with Ras  Synthetic lethal with c-Myc af  Upregulation of Wnt/beta-caten 

    Animal Models:
         Mouse knock-outs for BRAF: Braftm1.1Wds Braftm1.1Sva Braftm1Zim
         15/25 MGI mutant phenotypes (inferred from 14 alleles(MGI details for Braf) (see all 25):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 

    BRAF for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/83 super-pathways (see all 83About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1IL-9 Signaling Pathways
    8/12 pathways (see all 12)
    IL-9 Signaling Pathways1.00
    IL-4 Signaling Pathways0.80
    IL-21 Signaling Pathways0.90
    Development_Thrombopoietin-regulated cell processes0.36
    IL-7 Signaling Pathways0.90
    Development Thrombopoietin-regulated cell processes0.36
    Common Cytokine Receptor Gamma-Chain Family Signaling Pathways0.90
    Adipocytokines & Insulin Signaling0.33
    2ErbB4 Pathway
    ErbB4 Pathway1.00
    UVC-Induced MAPK Signaling0.44
    ErbB Family Pathway0.59
    TREM1 Pathway0.32
    Prolactin Signaling0.54
    IL-4 Pathway0.28
    ErbB2-ErbB3 Heterodimers0.47
    3G-protein signaling_G-Protein alpha-i signaling cascades
    G-protein signaling_G-Protein alpha-i signaling cascades1.00
    Development Beta-adrenergic receptors regulation of ERK0.55
    G-protein signaling G-Protein alpha-i signaling cascades1.00
    G-protein signaling_G-Protein alpha-s signaling cascades0.44
    Development_Beta-adrenergic receptors regulation of ERK0.55
    G-protein signaling G-Protein alpha-s signaling cascades0.44
    4GPCR Pathway
    GPCR Pathway1.00
    Estrogen Pathway0.55
    Ras Pathway0.62
    Pancreatic Adenocarcinoma0.55
    Breast Cancer Regulation by Stathmin10.58
    P2Y Receptor Signaling0.38
    5Glioma
    Glioma1.00
    Prostate cancer0.39
    Non-small cell lung cancer0.53
    Signaling Pathways in Glioblastoma0.36
    Melanoma0.43

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/17 EMD Millipore Pathways for BRAF (see all 17)
        G-protein signaling Ras family GTPases in kinase cascades (scheme)
    G-protein signaling N-RAS regulation pathway
    G-protein signaling G-Protein alpha-s signaling cascades
    Development G-Proteins mediated regulation MARK-ERK signaling
    G-protein signaling Cross-talk between Ras-family GTPases

    5/9 R&D Systems Pathways for BRAF (see all 9)
        IL-21 Signaling Pathways
    IL-2 Signaling Pathways
    IL-4 Signaling Pathways
    Adipocytokines & Insulin Signaling
    IL-7 Signaling Pathways

    5/59 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BRAF (see all 59)
        FLT3 Signaling
    IL-4 Pathway
    Molecular Mechanisms of Cancer
    eIF2 Pathway
    TRKA Signaling

    1 Cell Signaling Technology (CST) Pathway for BRAF
        MAP Kinase Signaling

    3 Tocris Bioscience Pathways for BRAF
        Insulin Pathway
    VEGF Pathway
    MAPK Pathway

    5/17 GeneGo (Thomson Reuters) Pathways for BRAF (see all 17)
        G-protein signaling G-Protein alpha-s signaling cascades
    G-protein signaling M-RAS regulation pathway
    Development A2A receptor signaling
    Development Neurotrophin family signaling
    Development Thrombopoietin-regulated cell processes

    5/19 BioSystems Pathways for BRAF (see all 19
        Integrated Breast Cancer Pathway
    Integrin-mediated cell adhesion
    Signaling Pathways in Glioblastoma
    Senescence and Autophagy
    Focal Adhesion

    5/20        Reactome Pathways for BRAF (see all 20)
        Transmission across Chemical Synapses
    Post NMDA receptor activation events
    Neuronal System
    Disease
    Negative regulation of FGFR signaling

    2 PharmGKB Pathways for BRAF
        Sorafenib Pharmacodynamics
    Vemurafenib Pathway, Pharmacodynamics

    5/27         Kegg Pathways  (Kegg details for BRAF) (see all 27):
        MAPK signaling pathway
    ErbB signaling pathway
    Chemokine signaling pathway
    mTOR signaling pathway
    Vascular smooth muscle contraction


    BRAF for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BRAF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/122 Interacting proteins for BRAF (P150561, 2, 3 ENSP000002886024) via UniProtKB, MINT, STRING, and/or I2D (see all 122)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K1Q132332, 3, ENSP000003824234MINT-3374124 MINT-2833404 I2D: score=1 STRING: ENSP00000382423
    RPS6KA2Q153492, 3, ENSP000003860504MINT-2833347 MINT-2833314 I2D: score=1 STRING: ENSP00000386050
    KSR1Q8IVT52, 3, ENSP000002687634MINT-8396979 I2D: score=2 STRING: ENSP00000268763
    HSP90AB1P082381, 3, ENSP000003258754EBI-365980,EBI-352572 I2D: score=1 STRING: ENSP00000325875
    SFNP319472, 3MINT-3975375 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade ----
    GO:0000186activation of MAPKK activity TAS--
    GO:0006468protein phosphorylation IDA17563371
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007268synaptic transmission TAS--


    BRAF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BRAF for compounds           About GeneDecksing

    EMD Millipore small molecules for BRAF:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for BRAF available from Tocris Bioscience    About this table
    CompoundAction CAS #
    GDC 0879Potent B-Raf inhibitor[905281-76-7]
    ZM 336372 Potent, selective c-Raf inhibitor [208260-29-1]
    SB 590885Potent B-Raf inhibitor[405554-55-4]
    GW 5074 Potent, selective c-Raf1 kinase inhibitor [220904-83-6]
    L-779,450 Potent Raf kinase inhibitor[303727-31-3]

    10/845 HMDB Compounds for BRAF (see all 845)    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----

    4 DrugBank Compounds for BRAF    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Sorafenib-- 284461-73-0targetinhibitor16901402 16880785 11752352 17575107 16609060 20812347
    (1E)-5-(1-piperidin-4-yl-3-pyridin-4-yl-1H-pyrazol-4-yl)-2,3-dihydro-1H-inden-1-one oxime-- --target--10592235
    N-{2,4-difluoro-3-[(5-pyridin-3-yl-1H-pyrrolo[2,3-b]pyridin-3-yl)carbonyl]phenyl}ethanesulfonamide-- --target--10592235
    N-{3-[(5-chloro-1H-pyrrolo[2,3-b]pyridin-3-yl)carbonyl]-2,4-difluorophenyl}propane-1-sulfonamide-- --target--10592235

    10/58 Novoseek chemical compound relationships for BRAF gene (see all 58)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    crcs 79.1 24 19474002 (4), 19147861 (2), 18435933 (2), 15542810 (2) (see all 15)
    panitumumab 77.9 3 19001320 (4), 19806185 (2), 18621636 (2), 19935791 (1)
    cetuximab 71.4 23 19001320 (4), 20146801 (3), 19806185 (2), 19884556 (2) (see all 13)
    sorafenib 71.2 33 19638574 (5), 18676765 (3), 19878585 (3), 18192256 (1) (see all 20)
    threonine 60.8 41 8557035 (1), 14508525 (1), 19206169 (1), 1630826 (1) (see all 35)
    gw-5074 59.5 11 18194435 (5), 16314406 (1), 15255937 (1)
    17-(allylamino)-17-demethoxygeldanamycin 58.8 10 18375819 (2), 16371460 (1), 18281615 (1), 18676857 (1)
    o6-methylguanine 51.4 6 19164452 (1), 17867575 (1), 18300810 (1), 15616773 (1) (see all 6)
    valine 47.7 10 15688405 (1), 16964379 (1), 19149686 (1), 19200582 (1) (see all 9)
    phosphatidylinositol 46.1 6 15263001 (2), 8576262 (1), 17183069 (1), 19118027 (1) (see all 5)

    1 PharmGKB related drug/compound annotation for BRAF gene
    Drug/compound PharmGKB Annotation
    vemurafenibDL  
    About this table

    Search CenterWatch for drugs/clinical trials and news about BRAF 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for BRAF gene: 
    NM_004333.4  

    Unigene Cluster for BRAF:

    V-raf murine sarcoma viral oncogene homolog B1
    Hs.550061  [show with all ESTs]
    Unigene Representative Sequence: NM_004333
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000496384 ENST00000288602(uc003vwc.4) ENST00000479537 ENST00000497784
    ENST00000469930

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    hsa-miR-9 hsa-miR-659
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK314346.1 BC038966.1 BC101757.1 BC112079.1 GU149303.1 HM053972.1 HM437233.1 M21001.1 
    M95712.2 

    8 DOTS entries:

    DT.412400  DT.95121279  DT.92070713  DT.121078775  DT.75172532  DT.121078703  DT.40105916  DT.445289 

    24/151 AceView cDNA sequences (see all 151):

    AK098095 AI435611 AA676542 AL135067 CB241287 AA907838 BQ771705 AA705424 
    BE620440 AI378370 CA396753 AA279937 AI796104 AA905230 BU742293 BX280711 
    AI378339 AA812678 AA679780 BM931879 CA868313 AI384098 AU118767 BF089752 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BRAF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGAGATTAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See BRAF Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BRAF

    SOURCE GeneReport for Unigene cluster: Hs.550061

    UniProtKB/Swiss-Prot: BRAF_HUMAN, P15056
    Tissue specificity: Brain and testis

        SABiosciences Expression via Pathway-Focused PCR Arrays including BRAF (see all 7): 
              Lung Cancer in human mouse rat
              Insulin Signaling Pathway in human mouse rat
              EGF / PDGF Signaling Pathway in human mouse rat
              Focal Adhesions in human mouse rat
              Apoptosis 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for BRAF gene from 8/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves BRAF1 v-raf murine sarcoma viral oncogene homolog B1 85.67(n)
    94.63(a)
      396239  NM_205302.1  NP_990633.1 
    lizard
    (Anolis carolinensis)
    Reptilia BRAF6
    --
    86(a)
    1 ↔ 1
    5(15603244-15652623)
    African clawed frog
    (Xenopus laevis)
    Amphibia BRAF2 serine/threonine protein kinase BRAF 79.22(n)    AB113401.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AB113402.12   -- 76.52(n)    AB113402.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta phl1 , 3 dorsal/ventral axis determination,
    follicular more3
    pole hole1
    42(a)3
    50.9(n)1
    48.16(a)1
      1 3A13
    312211  NM_080308.21  NP_525047.11 
    worm
    (Caenorhabditis elegans)
    Secernentea lin-451 , 3 Expression: head neurons, neurons3
    Protein LIN-451
    54(a)3
    51.83(n)1
    48.29(a)1
      IV(6743426-6747592)3
    1774361  NM_171367.41  NP_741430.31 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G247156
    AT3G469206
    (see all 7)
    octicosapeptide/Phox/Bem1p domain-containing prote...
    octicosapeptide/Phox/Bem1p domain-containing prote...
    (see all 7)
    9(a)
    9(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    3(9025849-9029948)
    3(17280430-17284857)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 5)
    protein kinase domain containing protein, expresse...
    protein kinase domain containing protein, expresse...
    (see all 5)
    9(a)
    9(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    6(26398279-26404234)
    2(33380337-33387027)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BRAF gene
    MAP3K112  MAP3K122  KIAA18042  RAF12  KSR22  KSR12  MOS2  MAP3K102  
    MAP3K92  ARAF2  MAP3K72  MAP3K7CL2  TNNI3K2  ZAK2  MAP3K132  ILK2  
    18/106 SIMAP similar genes for BRAF using alignment to 8 protein entries:     BRAF_HUMAN (see all proteins) (see all similar genes):
    RAF1    ARAF    MARK2    BLK    RPS6KA2    JAK2
    MARK4    TESK2    TYRO3    MAP3K9    MAP3K6    NEK5
    MAP3K15    MERTK    NEK8    PHKG2    RPS6KA3    CDK16

    BRAF for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BRAF
    PGOHUM00000241860


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2883 NCBI SNPs in BRAF are shown (see all 2883    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219133691,2
    Cpathogenic139791327(-) TTGGTC/GTAGCT 2 L V mis10--------
    rs1219133641,2
    Cother139791315(-) CAGTGA/GAATCT 2 K E mis10--------
    rs1134880221,2
    Cother139791317(-) TACAGA/C/TGAAAT 3 E A V mis10--------
    rs1219133781,2
    Cother139791318(-) CTACAA/G/TTGAAA 3 M V L mis10--------
    rs1219133381,2
    Cother139791335(-) AGGTGA/G/TTTTTG 3 D G V mis10--------
    rs1219133551,2
    Cother139819576(-) ATTTGA/C/G/
            
    AACAG
    4 E A G V mis10--------
    rs1219133571,2
    Cother139819577(-) CATTTA/C/GGAACA 3 R G mis10--------
    rs1219133511,2
    Cother139819585(-) ATCTGA/C/G/
            
    ATCAT
    4 E A G V mis10--------
    rs1219133481,2
    Cother139819591(-) AATTGA/G/TATCTG 3 E G V mis10--------
    rs69483771,2
    C,--134880089(+) gtgtgC/Tgtgtg 1 -- int10--------

    HapMap Linkage Disequilibrium report for BRAF (140424943 - 140624564 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for BRAF
         1 Indel: 41033
    Human Gene Mutation Database (HGMD): BRAF

    5/38 SABiosciences Cancer Mutation PCR Assays for BRAF (see all 38):
    Cosmic IdAA Change
    463p.E586K
    461p.G469E
    6265p.K601N
    458p.G469S
    462p.N581S
    5/31 SABiosciences Cancer Mutation PCR Arrays containing BRAF (see all 31):
    Breast Cancer
    Receptor Tyrosine Kinase (RTK) (Panel II)
    Cancer Comprehensive Panel 384HT
    Lung Cancer
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BRAF
    DNA2.0 Custom Variant and Variant Library Synthesis for BRAF

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BRAF for disorders           About GeneDecksing

    OMIM gene information: 164757   
    OMIM disorders: 211980  115150  613706  613707  
    UniProtKB/Swiss-Prot: BRAF_HUMAN, P15056
  • Note=Defects in BRAF are found in a wide range of cancers
  • Defects in BRAF may be a cause of colorectal cancer (CRC) [MIM:114500]
  • Defects in BRAF are involved in lung cancer (LNCR) [MIM:211980]. LNCR is 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
  • Defects in BRAF are involved in non-Hodgkin lymphoma (NHL) [MIM:605027]. NHL is a cancer that starts in cells
  • of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by
    enlarged lymph nodes, fever and weight loss
  • Defects in BRAF are a cause of cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]; also known as
  • cardio-facio-cutaneous syndrome. CFC syndrome is 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. The inheritance of CFC syndrome is
    autosomal dominant
  • Defects in BRAF are the cause of Noonan syndrome type 7 (NS7) [MIM:613706]. Noonan syndrome is a disorder
  • characterized by facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated
    ears. Other features can include short stature, a short neck with webbing or redundancy of skin, cardiac anomalies,
    deafness, motor delay and variable intellectual deficits
  • Defects in BRAF are the cause of LEOPARD syndrome type 3 (LEOPARD3) [MIM:613707]. LEOPARD3 is a disorder
  • characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis,
    abnormalities of genitalia, retardation of growth, and sensorineural deafness
  • 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

    20/150 diseases for BRAF (see all 150):    About MalaCards
    non-small cell lung carcinoma    non-hodgkin lymphoma    hodgkin's lymphoma    cardiofaciocutaneous syndrome
    thyroid carcinoma    colorectal cancer    carcinoma    adenocarcinoma
    nonsmall cell lung cancer, somatic    lung carcinoma    thyroiditis    melanoma
    spitz nevus    sarcoma    struma ovarii    familial adenomatous polyposis
    pilocytic astrocytoma of cerebellum    posterior uveal melanoma    melanoma, malignant, somatic    developmental disabilities

    1 disease from the University of Copenhagen DISEASES database for BRAF:
    Melanoma

    10/97 Novoseek disease relationships for BRAF gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thyroid papillary carcinoma 91.4 159 15968271 (6), 17060774 (4), 20012784 (3), 15095090 (2) (see all 99)
    cfc syndrome 89.8 17 18651097 (2), 17366577 (2), 17551924 (2), 19376813 (2) (see all 12)
    microsatellite instability 89.4 103 16403224 (4), 18718023 (3), 15221372 (2), 18517279 (2) (see all 87)
    papillary thyroid cancer 86.7 58 16487015 (3), 16174717 (2), 12970315 (2), 16708643 (2) (see all 41)
    melanoma 85.4 857 15824163 (9), 15917418 (8), 17699719 (8), 15060100 (7) (see all 99)
    somatic mutations 81.4 66 20200438 (3), 16567964 (2), 14688025 (2), 14612909 (1) (see all 54)
    thyroid cancer 80.5 69 17878251 (5), 19878585 (5), 12970315 (3), 17179987 (3) (see all 40)
    thyroid carcinoma anaplastic 79.9 20 15195111 (7), 16533790 (2), 15880523 (1), 17878251 (1) (see all 11)
    colorectal cancer 79.9 211 14734469 (7), 17924122 (6), 15782118 (5), 15340260 (5) (see all 99)
    tumors 74.1 721 16199894 (6), 18473997 (6), 18235983 (5), 19919912 (5) (see all 99)

    GeneTests: BRAF
    Costello Syndrome
    Cardiofaciocutaneous Syndrome

    Genetic Association Database (GAD): BRAF
    Human Genome Epidemiology (HuGE) Navigator: BRAF (256 documents)

    Export disorders for BRAF gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BRAF gene, integrated from 9 sources (see all 1671):
    (articles sorted by number of sources associating them with BRAF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete coding sequence of a human B-raf cDNA and detection of B-raf protein kinase with isozyme specific antibodies. (PubMed id 2284096)1, 2, 3 Sithanandam G.... Rapp U.R. (1990)
    2. BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. (PubMed id 16174717)1, 4, 9 Xing M....Ladenson P.W. (2005)
    3. BRAF mutations in non-Hodgkin's lymphoma. (PubMed id 14612909)1, 2, 9 Lee J.W.... Lee S.H. (2003)
    4. No Evidence for BRAF as a melanoma/nevus susceptibility gene. (PubMed id 15824163)1, 4, 9 Jackson S....Newton Bishop J.A. (2005)
    5. BRAF gene is somatically mutated but does not make a major contribution to malignant melanoma susceptibility: the Italian Melanoma Intergroup Study. (PubMed id 14722037)1, 4, 9 Casula M....Palmieri G. (2004)
    6. BRAF mutation in endometrial carcinoma and hyperplasi a: correlation with KRAS and p53 mutations and mismatch repair protein expressi on. (PubMed id 16144912)1, 4, 9 Feng Y.Z....Konishi I. (2005)
    7. Mutations of the BRAF gene in papillary thyroid carcinoma and in Hashimoto's thyroiditis. (PubMed id 16143028)1, 4, 9 Kim K.H....Kang D.Y. (2005)
    8. BRAF mutations in colorectal carcinoma suggest two entities of microsatellite-unstable tumors. (PubMed id 16015629)1, 4, 9 Lubomierski N....Raedle J. (2005)
    9. BRAF and NRAS mutations are frequent in nodular melanoma but are not associated with tumor cell proliferation or patient survival. (PubMed id 16098042)1, 4, 9 Akslen L.A....Kumar R. (2005)
    10. Diacylglycerol kinase eta augments C-Raf activity and B-Raf/C-Raf heterodimerization. (PubMed id 19710016)1, 2, 9 Yasuda S....Sakane F. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 673 HGNC: 1097 AceView: BRAF Ensembl:ENSG00000157764 euGenes: HUgn673
    ECgene: BRAF Kegg: 673 H-InvDB: BRAF

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BRAF Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BRAF Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BRAF

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BRAF gene:
    Search GeneIP for patents involving BRAF

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRAF
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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