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    BRAF B-Raf proto-oncogene, serine/threonine kinase [ Homo sapiens (human) ]

    Gene ID: 673, updated on 4-Jun-2020

    Summary

    Official Symbol
    BRAFprovided by HGNC
    Official Full Name
    B-Raf proto-oncogene, serine/threonine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:1097
    See related
    Ensembl:ENSG00000157764 MIM:164757
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NS7; B-raf; BRAF1; RAFB1; B-RAF1
    Summary
    This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in testis (RPKM 6.6), brain (RPKM 5.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See BRAF in Genome Data Viewer
    Location:
    7q34
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (140713328..140924929, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (140415749..140624564, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NDUFB2 antisense RNA 1 Neighboring gene aarF domain containing kinase 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit B2 Neighboring gene RNA, U6 small nuclear 85, pseudogene Neighboring gene uncharacterized LOC105375536 Neighboring gene uncharacterized LOC107986720 Neighboring gene chaperonin containing TCP1 subunit 4 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cardiofaciocutaneous syndrome 1
    MedGen: CN029449 OMIM: 115150 GeneReviews: Cardiofaciocutaneous Syndrome
    Compare labs
    Dabrafenib response
    MedGen: CN239586 GeneReviews: Not available
    not available
    LEOPARD syndrome 3 Compare labs
    Lung cancer
    MedGen: C0684249 OMIM: 211980 GeneReviews: Not available
    Compare labs
    Noonan syndrome 1
    MedGen: C4551602 OMIM: 163950 GeneReviews: Noonan Syndrome
    Compare labs
    Noonan syndrome 7
    MedGen: C3150970 OMIM: 613706 GeneReviews: Noonan Syndrome
    Compare labs
    Vemurafenib response
    MedGen: CN239577 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2014-08-04)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated (2014-08-04)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
    NHGRI GWA Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ95109, MGC126806, MGC138284

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    scaffold protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    serine/threonine-protein kinase B-raf
    Names
    94 kDa B-raf protein
    B-Raf proto-oncogene serine/threonine-protein kinase (p94)
    B-Raf serine/threonine-protein
    murine sarcoma viral (v-raf) oncogene homolog B1
    proto-oncogene B-Raf
    v-raf murine sarcoma viral oncogene homolog B
    v-raf murine sarcoma viral oncogene homolog B1
    NP_001341538.1
    NP_001361173.1
    NP_001361187.1
    NP_001365396.1
    NP_001365397.1
    NP_001365398.1
    NP_001365399.1
    NP_001365400.1
    NP_001365401.1
    NP_001365402.1
    NP_001365403.1
    NP_001365404.1
    NP_004324.2
    XP_016868048.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007873.3 RefSeqGene

      Range
      5001..195753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_299

    mRNA and Protein(s)

    1. NM_001354609.2NP_001341538.1  serine/threonine-protein kinase B-raf isoform 2

      Status: REVIEWED

      Source sequence(s)
      AA975673, AC006006, AC006344, AC006347
      Consensus CDS
      CCDS87555.1
      Related
      ENSP00000419060.2, ENST00000496384.7
      Conserved Domains (3) summary
      cd01816
      Location:156227
      Raf_RBD; Ubiquitin domain of Raf serine/threonine kinases
      cd14062
      Location:463715
      STKc_Raf; Catalytic domain of the Serine/Threonine Kinases, Raf (Rapidly Accelerated Fibrosarcoma) kinases
      pfam00130
      Location:235280
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    2. NM_001374244.1NP_001361173.1  serine/threonine-protein kinase B-raf isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC006006, AC006344, AC006347
      Related
      ENSP00000288602.7, ENST00000288602.11
    3. NM_001374258.1NP_001361187.1  serine/threonine-protein kinase B-raf isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC006006, AC006344, AC006347
      Related
      ENSP00000496776.1, ENST00000644969.1
    4. NM_001378467.1NP_001365396.1  serine/threonine-protein kinase B-raf isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC006006, AC006344, AC006347
    5. NM_001378468.1NP_001365397.1  serine/threonine-protein kinase B-raf isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC006006, AC006344, AC006347
    6. NM_001378469.1NP_001365398.1  serine/threonine-protein kinase B-raf isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC006006, AC006344, AC006347
    7. NM_001378470.1NP_001365399.1  serine/threonine-protein kinase B-raf isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC006006, AC006344, AC006347
    8. NM_001378471.1NP_001365400.1  serine/threonine-protein kinase B-raf isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC006006, AC006344, AC006347
    9. NM_001378472.1NP_001365401.1  serine/threonine-protein kinase B-raf isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC006006, AC006344, AC006347
    10. NM_001378473.1NP_001365402.1  serine/threonine-protein kinase B-raf isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC006006, AC006344, AC006347
    11. NM_001378474.1NP_001365403.1  serine/threonine-protein kinase B-raf isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC006006, AC006344, AC006347
    12. NM_001378475.1NP_001365404.1  serine/threonine-protein kinase B-raf isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC006006, AC006344, AC006347
    13. NM_004333.6NP_004324.2  serine/threonine-protein kinase B-raf isoform 1

      See identical proteins and their annotated locations for NP_004324.2

      Status: REVIEWED

      Source sequence(s)
      AC006006, AC006344, AW971583, BC101757, DB454480, M95712
      Consensus CDS
      CCDS5863.1
      UniProtKB/Swiss-Prot
      P15056
      Related
      ENSP00000493543.1, ENST00000646891.1
      Conserved Domains (3) summary
      cd01816
      Location:156227
      Raf_RBD; Ubiquitin domain of Raf serine/threonine kinases
      cd14062
      Location:463715
      STKc_Raf; Catalytic domain of the Serine/Threonine Kinases, Raf (Rapidly Accelerated Fibrosarcoma) kinases
      pfam00130
      Location:235280
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      140713328..140924929 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012559.1XP_016868048.1  serine/threonine-protein kinase B-raf isoform X2

    RNA

    1. XR_001744858.1 RNA Sequence

    2. XR_001744857.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_148928.2: Suppressed sequence

      Description
      NR_148928.2: This RefSeq was removed because currently there is insufficient support for the transcript.
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