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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
  • Alliance
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: HGNC, HomoloGene
  • Synonyms
    B-raf, BRAF1, B-RAF1, NS7, RAFB1
  • Links
    NCBI Gene ID: 673
    neXtProt AC: NX_P15056
    UniProt: P15056

  • Chr Location
    7q34; chr7:140719331-140924764 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 6 models
      
IDs
View 2 models
IDs
View 3 models
IDs
View 3 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    14 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    235 phenotypes from 19 alleles in 35 genetic backgrounds
    68 phenotypes from multigenic genotypes
    4 images
    169 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • 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
    less
    • SNPs within 2kb
      476 from dbSNP Build 142
    Protein
    Information
    less
    • 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 superfamily
      IPR003116 Raf-like Ras-binding
      IPR008271 Serine/threonine-protein kinase, active site
      IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain
      IPR029071 Ubiquitin-like domain superfamily
    Molecular
    Reagents
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    • All nucleic 45
      Genomic 4
      cDNA 37
      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 250
      Developmental Gene Expression 23
      Diseases 14
      Gene Ontology 26
      Phenotypes 169
    • 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:264352 Shimamura M, et al., Mouse models of sporadic thyroid cancer derived from BRAFV600E alone or in combination with PTEN haploinsufficiency under physiologic TSH levels. PLoS One. 2018;13(8):e0201365

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory