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Braf Gene Detail
Summary
  • Symbol
    Braf
  • Name
    Braf transforming gene
  • Synonyms
    9930012E13Rik, Braf2, Braf-2, D6Ertd631e
  • Feature Type
    protein coding gene
  • IDs
    MGI:88190
    NCBI Gene: 109880
  • Gene Overview
    MyGene.info: BRAF
Location & Maps
more
  • Sequence Map
    Chr6:39603237-39725463 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      122227 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 18.43 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    BRAF, B-Raf proto-oncogene, serine/threonine kinase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BRAF, B-Raf proto-oncogene, serine/threonine kinase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    B-raf, BRAF1, B-RAF1, NS7, RAFB1
  • Links
    NCBI Gene ID: 673
    neXtProt AC: NX_P15056

  • Chr Location
    7q34; chr7:140715951-140924764 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Braf mouse models; 5 with human BRAF associations

Human Disease Mouse Models
       Cardiofaciocutaneous Syndrome 1; CFC1   OMIM: 115150 View 4 models
       Thyroid Cancer, Nonmedullary, 1; NMTC1   OMIM: 188550 View 2 models
       Leopard Syndrome 3; LPRD3   OMIM: 613707
Lung Cancer   OMIM: 211980
Noonan Syndrome 1; NS1   OMIM: 163950
Noonan Syndrome 7; NS7   OMIM: 613706
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    13 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    174 phenotypes from 18 alleles in 29 genetic backgrounds
    66 phenotypes from multigenic genotypes
    4 images
    119 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null embryos die during organogenesis, are smaller, have enlarged blood vessels, hemorrhaging, poor circulation, slow heartbeat and abnormal endothelial cell development. Mice homozygous for a targeted allele activated in neurons exhibit impaired neuronal differentiation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035245 VEGA Gene Model | MGI Sequence Detail 122227 C57BL/6J ±  kb
transcript OTTMUST00000089870 VEGA | MGI Sequence Detail 9728 Not Applicable  
polypeptide OTTMUSP00000049160 VEGA | MGI Sequence Detail 804 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    476 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000004801 B-Raf proto-oncogene serine/threonine-protein kinase
  • EC
  • InterPro Domains
    IPR020454 Diacylglycerol/phorbol-ester binding
    IPR017441 Protein kinase, ATP binding site
    IPR002219 Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
    IPR003116 Raf-like Ras-binding
    IPR008271 Serine/threonine-protein kinase, active site
    IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
    IPR029071 Ubiquitin-related domain
Molecular
Reagents
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  • All nucleic 44
    Genomic 4
    cDNA 36
    Primer pair 3
    Other 1

    Microarray probesets 15
Other
Accession IDs
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MGD-MRK-1618, MGD-MRK-1619, MGD-MRK-1621, MGI:1277149, MGI:2141786, MGI:2442536, MGI:3034546, MGI:3034892, MGI:3034940
References
more
  • Summaries
    All 171
    Developmental Gene Expression 20
    Diseases 13
    Gene Ontology 24
    Phenotypes 119
  • Earliest
    J:31016 Ikawa S, et al., B-raf, a new member of the raf family, is activated by DNA rearrangement. Mol Cell Biol. 1988 Jun;8(6):2651-4
  • Latest
    J:234124 Whitley MJ, et al., A mouse-human phase 1 co-clinical trial of a protease-activated fluorescent probe for imaging cancer. Sci Transl Med. 2016 Jan 6;8(320):320ra4

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory