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BRAF Gene

protein-coding   GIFtS: 75

GC07M140080
v-raf murine sarcoma viral oncogene homolog B1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
B-RAF1 2
B-Raf 2
BRAF1 1, 2, 3
EC 2.7.11.1 3
FLJ95109 2
MGC126806 2
MGC138284 2
RAFB1 2, 3
p94 3
Descriptions
94 kDa B-raf protein 2
B-Raf proto-oncogene serine/threonine-protein kinase (p94) 2
murine sarcoma viral (v-raf) oncogene homolog B1 2
v-raf murine sarcoma viral oncogene homolog B1 2, 3
External Ids
HGNC: 10971
Entrez Gene: 6732
UniProtKB: P150563
Ensembl: ENSG000001577647
Search outside databases for aliases for BRAF gene

Previous GC identifers: GC07M138705 GC07M139764 GC07M139841 GC07M139754 GC07M139887

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

EntrezGene 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]

UniProtKB/Swiss-Prot: BRAF1_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

Gene Wiki entry for BRAF

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the BRAF gene  

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)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M140080:     (about GC identifiers)

Start:
140,080,751 bp from pter
End:
140,271,033 bp from pter
Size:
190,283 bases
Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 139,772,459-139,962,886     
RefSeq DNA sequence:
NC_000007.12  NT_007914.14  NT_079596.2  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: BRAF1_HUMAN, P15056 (See protein sequence)
Recommended Name: B-Raf proto-oncogene serine/threonine-protein kinase  
Size: 766 amino acids; 84437 Da
Cofactor: Binds 2 zinc ions per subunit (By similarity)
Subunit: Interacts with RIT1 (By similarity)
Subcellular location: Cytoplasm
Sequence caution: Sequence=AAD43193.1; Type=Erroneous gene model prediction;
PDB structures from and Proteopedia :
1UWH (3D)    1UWJ (3D)    2FB8 (3D)    3C4C (3D)    3C4D (3D)    3D4Q (3D)    
Secondary accessions: Q13878 Q3MIN6 Q9UDP8 Q9Y6T3

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_004324.2  

    ENSEMBL proteins: 
    ENSP00000288602 


    Human Recombinant Proteins 
    Invitrogen human recombinant proteins for BRAF
    Millipore Purified and/or Recombinant BRAF Protein
    Sigma-Aldrich Proteins for BRAF  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (B Raf)
    Human Recombinant Proteins from Abnova (BRAF)
                  OriGene Purified Recombinant Human Protein: BRAF 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA18029348
    GO:0005737 cytoplasm IEA--
    About this table

    Antibodies for BRAF: 
    Invitrogen Antibodies for BRAF
    Millipore Mono- and Polyclonal Antibodies for the study of BRAF
    Sigma-Aldrich Antibodies for BRAF
    R&D Systems Antibodies for BRAF (B-Raf)
    Cell Signaling Technology (CST) Antibodies for BRAF  (B-Raf)
    Antibodies from Abcam (B Raf), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (BRAF)
    Novus Biologicals Antibodies for BRAF

    Assays for BRAF: 
    Invitrogen Assays for BRAF
    Millipore Kits and Assays for the Analysis of BRAF
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    5/6 InterPro domains/families (see all 6 ):
     IPR017441 Protein_kinase_ATP_BS
     IPR017442 Se/Thr_pkinase-rel
     IPR008271 Ser_thr_pkin_AS
     IPR002219 DAG_PE_bd
     IPR000719 Prot_kinase_core


       GeneDecks  BRAF for the domains selected above  
    About GeneDecksing

    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: BRAF1_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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (BRAF)
    Millipore RNAi Products for the Analysis of BRAF Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (BRAF)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004333

                  Applied Biosystems Silencer® siRNAs for BRAF

                  Sigma-Aldrich siRNA and siRNA Panels for BRAF  
                         Sigma-Aldrich shRNA Panels and shRNA for BRAF  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_004333
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_004333
                                     untagged cDNA clone in CMV expression vector: NM_004333 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_004333

    UniProtKB/Swiss-Prot: BRAF1_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 Number (IUBMB): EC 2.7.11.1 

    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

    15/20 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Braf) (see all 20 ):

    behavior/neurologicalcellularcraniofacialembryogenesis
    endocrine/exocrine glandgrowth/sizehematopoietic systemhomeostasis/metabolismimmune system
    lethality-postnatallethality-prenatal/perinatallife span-post-weaning/agingliver/biliary systemnervous system

    5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0004674 protein serine/threonine kinase activity IEA--
    GO:0005057 receptor signaling protein activity IEA--
    GO:0005515 protein binding IPI17353931
    GO:0005524 ATP binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    5/8 Invitrogen iPath™ Online BioAtlas - Pathways for BRAF (see all 8 ) (Maps provided by GeneGo):
     Ras family GTPases in kinase cascades (scheme)
     G-Protein alpha-i signaling cascades
     G-Proteins mediated regulation MARK-ERK signaling
     Focal adhesion complex formation: WASF-proteins and activation of RAP GTP-ase
     Rap1A regulation pathway

       GeneDecks  BRAF for the pathways selected above  
    About GeneDecksing

    5/17 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

       GeneDecks  BRAF for the pathways selected above  
    About GeneDecksing

    5/16 Sigma-Aldrich "Your Favorite Gene" Pathways for  BRAF  (Your Favorite Gene powered by Ingenuity) (see all 16
     Integrin Signaling
     G-Protein Coupled Receptor Signaling
     Endothelin-1 Signaling
     Thyroid Cancer Signaling
     Acute Myeloid Leukemia Signaling

       GeneDecks  BRAF for the pathways selected above  
    About GeneDecksing

    1 Cell Signaling Technology (CST) Pathway for BRAF: 
     MAPK/Erk in Growth and Differentiation

       GeneDecks  BRAF for the pathways selected above  
    About GeneDecksing

    5/23 Kegg Pathways  (Kegg details for BRAF) (see all 23 ):
     hsa04010 MAPK signaling pathway
     hsa04012 ErbB signaling pathway
     hsa04150 mTOR signaling pathway
     hsa04270 Vascular smooth muscle contraction
     hsa04510 Focal adhesion

       GeneDecks  BRAF for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  BRAF 


    5/93 Interacting proteins for BRAF (ENSP000002886023 P150561, 2) via UniProtKB, MINT, and/or STRING (see all 93 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKCAP172522STRING (score=.952) MINT-2833162
    YWHAZP631041, 2STRING (score=.801) EBI-365980, EBI-347088 MINT-3295552 MINT-51024 EBI-365980, EBI-347088 MINT-3295552 MINT-51024
    YWHABP319461, 2STRING (score=.99) EBI-365980, EBI-359815 MINT-50344 EBI-365980, EBI-359815 MINT-50344
    YWHAQP273481, 2STRING (score=.752) EBI-365980, EBI-359854 MINT-50372 EBI-365980, EBI-359854 MINT-50372
    YWHAGP619811, 2EBI-365980, EBI-359832 MINT-50888 EBI-365980, EBI-359832 MINT-50888
    About this table

    4 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468 protein amino acid phosphorylation TAS2284096
    GO:0006916 anti-apoptosis TAS9207797
    GO:0007264 small GTPase mediated signal transduction EXP10712923
    GO:0009887 organ morphogenesis TAS9207797
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Compounds for BRAF available from Tocris Bioscience
    CompoundAction CAS number
    ZM 336372Potent, selective c-Raf inhibitor[208260-29-1]
    GW 5074Potent, selective c-Raf1 kinase inhibitor[220904-83-6]
    L-779,450Potent Raf kinase inhibitor[303727-31-3]
    About this table


    10/32 Novoseek chemical compound relationships for BRAF gene (see all 32 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    crcs 76.28 18 19147861 (2), 18435933 (2), 15542810 (2), 14639609 (1) (see all 12)
    gw-5074 63.91 11 18194435 (5), 16314406 (1), 15255937 (1)
    17-(allylamino)-17-demethoxygeldanamycin 62.63 10 18375819 (2), 16371460 (1), 18281615 (1), 18676857 (1)
    threonine 61.53 37 8557035 (1), 14508525 (1), 19206169 (1), 1630826 (1) (see all 31)
    o6-methylguanine 52.14 5 17867575 (1), 18300810 (1), 15616773 (1), 16118624 (1) (see all 5)
    phosphatidylinositol 41.15 6 15263001 (2), 8576262 (1), 17183069 (1), 19118027 (1) (see all 5)
    tyrosine 40.80 24 10205168 (2), 9020159 (2), 12446733 (2), 9844921 (1) (see all 16)
    sodium iodide 40.02 1 16254036 (1)
    pd 98,059 31.91 6 17709622 (3), 18194435 (1), 17424890 (1), 15705790 (1) (see all 6)
    thymine 30.84 10 15968271 (1), 15641040 (1), 16708643 (1), 15126572 (1) (see all 8)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (BRAF)
    Millipore RNAi Products for the Analysis of BRAF Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (BRAF)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004333

                  Sigma-Aldrich siRNA and siRNA Panels for BRAF  
                         Sigma-Aldrich shRNA Panels and shRNA for BRAF  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_004333  

    REFSEQ mRNAs for BRAF gene: 

    NM_004333.4   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_004333  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_004333
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_004333
                                     untagged cDNA clone in CMV expression vector: NM_004333 

    Additional cDNA sequence: 

    AK314346.1 BC038966.1 BC101757.1 BC112079.1 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 ):

    CA396753 BF089752 BQ771705 BM684937 BE620440 AI040223 BX280711 AL135067 
    AA812678 AK098095 AA705424 AI384098 AI635384 AA279937 BM931879 AA907838 
    AI378370 BU742293 AI435611 AU118767 CB241287 AA679780 AA905230 AW613053 

    highest scoring ESTs for BRAF:

    M95712 AA741481 AI018295 AI203435 AL039290 AW295124 AA252274 AA262800 AA805671 AA815165 

    Unigene Cluster for BRAF:

    V-raf murine sarcoma viral oncogene homolog B1
    Hs.550061  [show with all ESTs]
    Unigene Representative Sequence: NM_004333


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000288602  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    BRAF expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for BRAF

    1 / 2 / 3

    7 probe-sets matching BRAF gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    1654_at2, 3 U95-A 2 1.00 0.72 -0.17 1.03 M95712 1.00 1.00 1.00 1

    40306_at2, 3 U95-A 2 1.00 0.59 0.10 0.62 M95712 1.00 1.00 1.00 1

    86199_r_at2, 3 U95-D 1 0.69 1.00 1.00 1.00 R17104 0.60 1.00 0.82 1

    243829_at2, 3 U133-B 1 1.00 1.00 -- -- AW613053 0.60 1.00 0.82 1

    206044_s_at2, 3 U133-A 2 1.00 0.73 -- -- NM_004333 0.60 1.00 0.82 1

    243829_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    206044_s_at2 U133Plus2 2 1.00 0.73 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AAGAGATTAA

    SOURCE GeneReport for Unigene cluster: Hs.550061

    Expression variation in blood from EXPOLDB for BRAF

    UniProtKB/Swiss-Prot: BRAF1_HUMAN, P15056
    Tissue specificity: Brain and testis

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for BRAF gene from 5/13 species (see all 13 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    BRAF1   -- v-raf murine sarcoma viral oncogene homolog B1 94.9(n)
    98.75(a)
    475526  XM_532749.2  XP_532749.2 
    chimpanzee
    (Pan troglodytes)
    BRAF1   -- v-raf murine sarcoma viral oncogene homolog B1 99.78(n)
    99.87(a)
    463781  XM_001155024.1  XP_001155024.1 
    cow
    (Bos taurus)
    BRAF1   -- v-raf murine sarcoma viral oncogene homolog B1 95.43(n)
    98.54(a)
    536051  XM_864068.2  XP_869161.2 
    rat
    (Rattus norvegicus)
    Braf1   -- v-raf murine sarcoma viral oncogene homolog B1 92.52(n)
    98.2(a)
    114486  XM_231692.4  XP_231692.4 
    mouse
    (Mus musculus)
    Braf1, 5 6 (15.50 cM)5
    Braf transforming gene1, 5 93.03(n)1
    98.06(a)1
    1098801  NM_139294.41  NP_647455.21 
     AA1205515  AA3867325  (see all 43)
    About this table        Species with no ortholog for BRAF

    ENSEMBL Gene Tree for BRAF
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for BRAF gene
    ARAF2  RAF12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/854 NCBI SNPs in BRAF are shown (see all 854 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 173)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 7 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    --
    rs64641491,2
    A,C140272305(+) TACTGA/CCTTCT 1 -- ng310--------
    rs347763391,2
    C140146710(+) CTGTGG/ATATTG 1 S/P mis14Minor allele frequency- A:0.00EU EA WA 420
    --
    rs96486961,2
    A,C,F140095619(+) ACAATT/CCCAAA 1 G/G syn11Minor allele frequency- C:0.39NA 62
    --
    rs10421791,2
    C,F140095619(-) TTTGGA/GATTGT 1 G/G syn10--------
    --
    rs22285201,2
    F140146696(-) GAGGCG/ATCCTT 1 A/A syn18Minor allele frequency- A:0.00MN NA EU EA WA 626
    --
    rs12676181,2
    A,C,F,H,O140206487(+) CAGAAC/TGGACT 1 -- int15Minor allele frequency- T:0.27MN EU EA WA 602
    rs12676211,2
    A,C,F,H,O140202636(+) AACCAC/TTTAGT 1 -- int112Minor allele frequency- T:0.22MN NA EU EA WA 1106
    rs12676121,2
    A,C,F,H,O140158229(+) CATTCG/ATCTTC 1 -- int115Minor allele frequency- A:0.31EU EA WA NA 1388
    rs12676481,2
    A,C,F,H,O140151569(+) AAATGT/CCTATT 1 -- int111Minor allele frequency- C:0.34NA EU EA WA 960
    rs12676221,2
    A,C,F,H,O140174786(+) ATGTGA/GTATAC 1 -- int117Minor allele frequency- G:0.39NS EU EA WA NA 1160
    About this table

    HapMap Linkage Disequilibrium images for BRAF (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 164757

    UniProtKB/Swiss-Prot: BRAF1_HUMAN, P15056

  • 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 involved in a wide range of cancers
  • Defects in BRAF are involved in lung cancer [MIM:211980]
  • 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 may be a cause of colorectal cancer (CRC) [MIM:114500]
  • 10/96 Novoseek disease relationships for BRAF gene (see all 96 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    thyroid papillary carcinoma 90.60 135 15968271 (6), 17060774 (4), 15095090 (2), 16452550 (2) (see all 96)
    cfc syndrome 89.44 14 18651097 (2), 17366577 (2), 17551924 (2), 19206169 (1) (see all 10)
    microsatellite instability 87.39 79 16403224 (4), 18718023 (3), 15221372 (2), 18517279 (2) (see all 64)
    papillary thyroid cancer 86.23 49 16487015 (3), 16174717 (2), 12970315 (2), 16708643 (2) (see all 34)
    melanoma 84.94 739 15824163 (9), 15917418 (8), 17699719 (8), 15060100 (7) (see all 99)
    somatic mutations 80.22 50 16567964 (2), 14688025 (2), 14612909 (1), 15093535 (1) (see all 43)
    thyroid carcinoma anaplastic 78.75 18 15195111 (7), 16533790 (2), 15880523 (1), 17878251 (1) (see all 9)
    thyroid cancer 77.38 53 17878251 (5), 12970315 (3), 17179987 (3), 17911174 (2) (see all 31)
    colorectal cancer 75.39 163 14734469 (7), 17924122 (6), 15782118 (5), 15340260 (5) (see all 77)
    nevi 73.35 108 16799476 (6), 15009715 (5), 15824163 (4), 15330192 (4) (see all 38)
    About this table

    1 PharmGKB disease relationship for BRAF gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Nevi and MelanomasFA  15694309
    About this table

    GeneTests: BRAF
    Cardiofaciocutaneous Syndrome

    Human Gene Mutation Database: BRAF
    Genetic Association Database: BRAF
    Human Genome Epidemiology Navigator: BRAF (108 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

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

    10/1036 PubMed articles for BRAF gene (see all 1036 ):
    (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, and/or H-InvDB)
    About This Section

    Entrez Gene: 673 HGNC: 1097 AceView: BRAF Ensembl:ENSG00000157764 euGenes: HUgn673
    ECgene: BRAF H-InvDB: BRAF
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for BRAF Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=BRAF
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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