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; 1 zebrafish

Protein SuperFamily: DNA recombination repair protein, BRCA2 type
Gene Tree: Brca2

Human homologs

Human Homolog		BRCA2, breast cancer 2, early onset
NCBI Gene ID		675
neXtProt AC		NX_P51587
Human Synonyms		BRCC2, BROVCA2, FACD, FAD, FAD1, FANCB, FANCD, FANCD1, GLM3, PNCA2
Human Chr (Location)		13q12.3; chr13:32889617-32973809 (+)  GRCh37.p10
Disease Associations		(8) Diseases Associated with Human BRCA2

Alleles and phenotypes

All alleles(53) : Targeted(17) Gene trapped(36)
 

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 Using Mouse Brca2 (5)    Alleles Annotated to Human Diseases(7)   

Gene Ontology (GO) classifications

All GO classifications: (70 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: (16 records)
Data Summary: Results (270)    Tissues (151)    Images (22)
Theiler Stages: 2, 3, 13, 15, 17, 19, 20, 21, 22, 23, 28

Assay Type	Results
RNA in situ	124
Northern blot	16
RT-PCR	130

cDNA source data(24)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(43) Genomic(10) cDNA(26) Primer pair(7)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000041147 (Evidence)
Entrez Gene	12190 (Evidence)
DFCI	TC1578283, TC1693182
DoTS	DT.110704159, DT.110704169, DT.529022, DT.55281027, DT.94252366
NIA Mouse Gene Index	U006487
PDB	1MIU, 1MJE
Consensus CDS Project	CCDS39411.1
International Mouse Knockout Project Status	Brca2

Sequences

Length	Strain/Species
genomic	ENSMUSG00000041147	Ensembl Gene Model | MGI Sequence Detail	47117	C57BL/6J
transcript	ENSMUST00000044620	Ensembl | MGI Sequence Detail	10724	Not Applicable
polypeptide	ENSMUSP00000038576	Ensembl | MGI Sequence Detail	3329	Not Applicable

All sequences(64) RefSeq(4) UniProt(3)

Polymorphisms

All PCR and RFLP(4) : PCR(2) RFLP(2) SNPs(210 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194529 Titus S, et al., Impairment of BRCA1-related DNA double-strand break repair leads to ovarian aging in mice and humans. Sci Transl Med. 2013 Feb 13;5(172):172ra21
All references(116)

Other accession IDs

MGD-MRK-38382, MGI:2140824, MGI:2141125