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Brca2
Gene Detail
Symbol

Name
ID
Brca2
breast cancer 2
MGI:109337
Synonyms
Fancd1, RAB163
Feature Type
protein coding gene
Genetic Map
Chromosome 5
89.52 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr5:150522630-150569746 bp, + strand
From Ensembl annotation of GRCm38

  47117 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:41  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

HCOP human homology predictions: BRCA2
Protein SuperFamily: DNA recombination repair protein, BRCA2 type
Gene Tree: Brca2

Human
homologs
BRCA2, breast cancer 2, early onset
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 675
neXtProt AC: NX_P51587

Human Synonyms: BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11

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

Disease Associations: (9) Diseases Associated with Human BRCA2

Mutations,
alleles, and
phenotypes
All mutations/alleles(53) : Gene trapped(36) Targeted(17)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Human Diseases Modeled in Mice Using Brca2 (2)    Mutations Annotated to Human Diseases (7)   
Interactions
Brca2 interacts with 218 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (77 annotations)
Process brain development, cell aging, ...
Component BRCA2-MAGE-D1 complex, centrosome, ...
Function DNA binding, gamma-tubulin binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (17 records)
Data Summary: Results (276)    Tissues (157)    Images (22)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 124
Northern blot 16
RT-PCR 136
cDNA source data(24)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase brca2 ; ZFIN brca2    NEW 
Molecular
reagents
All nucleic(44) Genomic(10) cDNA(26) Primer pair(8)
Microarray probesets(4)
Other database
links
Ensembl Gene Model ENSMUSG00000041147 (Evidence)
Entrez Gene 12190 (Evidence)
DFCI TC1693182, TC1578283
DoTS DT.529022, DT.110704169, DT.110704159, DT.55281027, DT.94252366
NIA Mouse Gene Index U006487
PDB 1MJE, 1MIU
Consensus CDS Project CCDS39411.1
International Mouse Phenotyping Consortium Status Brca2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000041147 Ensembl Gene Model | MGI Sequence Detail 47117 C57BL/6J ±  kb
transcript ENSMUST00000044620 Ensembl | MGI Sequence Detail 10724 Not Applicable 
polypeptide ENSMUSP00000038576 Ensembl | MGI Sequence Detail 3329 Not Applicable 

For the selected sequences
All sequences(73) RefSeq(13) UniProt(3)
Polymorphisms
All PCR and RFLP(4) : PCR(2) RFLP(2) SNPs within 2kb(225 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR015187 BRCA2, oligonucleotide/oligosaccharide-binding 1
InterPro IPR015188 BRCA2, oligonucleotide/oligosaccharide-binding 3
InterPro IPR002093 BRCA2 repeat
InterPro IPR015525 Breast cancer type 2 susceptibility protein
InterPro IPR015252 DNA recombination/repair protein BRCA2, helical domain
InterPro IPR012340 Nucleic acid-binding, OB-fold
InterPro IPR015205 Tower
Protein Ontology PR:000004804 breast cancer type 2 susceptibility protein
References
(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:215685 Lamparter C, et al., Tissue-specific effects of valproic acid on DNA repair genes and apoptosis in postimplantation mouse embryos. Toxicol Sci. 2014 Sep;141(1):59-67
All references(120)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-38382, MGI:2140824, MGI:2141125

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
07/21/2015
MGI 5.22
The Jackson Laboratory