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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
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: HomoloGene, HGNC
  • Synonyms
    BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11
  • Links
    NCBI Gene ID: 675
    neXtProt AC: NX_P51587

  • Chr Location
    13q12.3; chr13:32314862-32399850 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Breast Cancer   OMIM: 114480 View 6 models
Fanconi Anemia, Complementation Group D1; FANCD1   OMIM: 605724 View 1 model
       Breast-Ovarian Cancer, Familial, Susceptibility to, 2; BROVCA2   OMIM: 612555
Glioma Susceptibility 3; GLM3   OMIM: 613029
Medulloblastoma; MDB   OMIM: 155255 View 2 models
Pancreatic Cancer, Susceptibility to, 2   OMIM: 613347
Prostate Cancer   OMIM: 176807 View 1 model
Tracheoesophageal Fistula with or without Esophageal Atresia   OMIM: 189960
Wilms Tumor 1; WT1   OMIM: 194070
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    10 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
    59 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 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
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 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
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000004804 breast cancer type 2 susceptibility protein
  • PDB
  • InterPro Domains
    IPR015187 BRCA2, oligonucleotide/oligosaccharide-binding 1
    IPR015188 BRCA2, oligonucleotide/oligosaccharide-binding 3
    IPR002093 BRCA2 repeat
    IPR015525 Breast cancer type 2 susceptibility protein
    IPR015252 Breast cancer type 2 susceptibility protein, helical domain
    IPR012340 Nucleic acid-binding, OB-fold
    IPR015205 Tower domain
Molecular
Reagents
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  • All nucleic 44
    Genomic 10
    cDNA 26
    Primer pair 8

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-38382, MGI:2140824, MGI:2141125
References
more
  • Summaries
    All 125
    Developmental Gene Expression 17
    Diseases 10
    Gene Ontology 29
    Phenotypes 59
  • 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:234167 Hartford SA, et al., Interaction with PALB2 Is Essential for Maintenance of Genomic Integrity by BRCA2. PLoS Genet. 2016 Aug;12(8):e1006236

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
09/27/2016
MGI 6.05
The Jackson Laboratory