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Brca2 Gene Detail
Summary
  • Symbol
    Brca2
  • Name
    breast cancer 2, early onset
  • Synonyms
    Fancd1, RAB163
  • Feature Type
    protein coding gene
  • IDs
    MGI:109337
    NCBI Gene: 12190
  • Gene Overview
    MyGene.info: BRCA2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr5:150522630-150570329 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      47700 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 89.52 cM
  • Mapping Data
    11 experiments
Homology
more
  • Human Ortholog
    BRCA2, BRCA2, DNA repair associated
  • Vertebrate Orthologs
    8
  • Human Ortholog
    BRCA2, BRCA2, DNA repair associated
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11
  • Links
    NCBI Gene ID: 675
    neXtProt AC: NX_P51587
    UniProt: P51587

  • Chr Location
    13q13.1; chr13:32315480-32399672 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Brca2 mouse models; 9 with human BRCA2 associations

Human Disease Mouse Models
      
IDs
View 6 models
IDs
View 1 model
      
IDs
IDs
IDs
IDs
View 2 models
IDs
IDs
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    88 phenotypes from 15 alleles in 24 genetic backgrounds
    44 phenotypes from multigenic genotypes
    5 images
    65 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 mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA2 protein survive, are small, infertile, show improper tissue differentiation and develop lymphomas and carcinomas.
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 OTTMUSG00000055512 VEGA Gene Model | MGI Sequence Detail 47700 C57BL/6J ±  kb
    transcript OTTMUST00000137399 VEGA | MGI Sequence Detail 10517 Not Applicable  
    polypeptide OTTMUSP00000072371 VEGA | MGI Sequence Detail 3329 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      227 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 45
      Genomic 10
      cDNA 27
      Primer pair 8

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-38382, MGI:2140824, MGI:2141125
    References
    more
    • Summaries
      All 144
      Developmental Gene Expression 17
      Diseases 9
      Gene Ontology 28
      Phenotypes 65
    • Earliest
      J:36562 Rajan JV, et al., Brca2 is coordinately regulated with Brca1 during proliferation and differentiation in mammary epithelial cells. Proc Natl Acad Sci U S A. 1996 12;93(23):13078-83
    • Latest
      J:263685 Kitami K, et al., BRCA1 and BRCA2 tumor suppressors in neural crest cells are essential for craniofacial bone development. PLoS Genet. 2018 May;14(5):e1007340

    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