|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:FAD
gptkb:BRCC2
gptkb:FANCD1
FACD
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:hereditary_breast_cancer
gptkb:Fanconi_anemia
hereditary ovarian cancer
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for cancer risk
|
|
gptkbp:discoveredBy
|
gptkb:Michael_Stratton
|
|
gptkbp:discoveredIn
|
1994
|
|
gptkbp:encodes
|
gptkb:BRCA2_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000139618
675
|
|
gptkbp:expressedIn
|
gptkb:prostate
gptkb:testis
various tissues
pancreas
breast tissue
ovarian tissue
|
|
gptkbp:fullName
|
Breast cancer type 2 susceptibility protein gene
|
|
gptkbp:function
|
DNA repair
homologous recombination
|
|
gptkbp:gene
|
gptkb:BRCA2
|
|
gptkbp:geneType
|
tumor suppressor
|
|
gptkbp:HGNC_ID
|
HGNC:1101
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
BRCA2 gene
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
gptkb:RPA
gptkb:PALB2
gptkb:DSS1
gptkb:BRCA1
gptkb:RAD51
|
|
gptkbp:length
|
3418 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_13
13q13.1
|
|
gptkbp:mutationAssociatedWith
|
germline mutation
somatic mutation
increased cancer risk
genomic instability
defective DNA repair
|
|
gptkbp:numberOfExons
|
27
|
|
gptkbp:OMIM
|
600185
|
|
gptkbp:orthologInFruitFly
|
dmbrca2
|
|
gptkbp:orthologInMouse
|
Brca2
|
|
gptkbp:orthologInZebrafish
|
brca2
|
|
gptkbp:pathway
|
Fanconi anemia pathway
Homologous recombination repair pathway
|
|
gptkbp:proteinFamily
|
DNA-binding domain
BRC repeats
OB-fold domain
Tower domain
|
|
gptkbp:therapeuticArea
|
PARP inhibitors
|
|
gptkbp:UniProtID
|
P51587
|
|
gptkbp:bfsParent
|
gptkb:Breast_Cancer_Association_Consortium
gptkb:hereditary_breast_and_ovarian_cancer_syndrome
|
|
gptkbp:bfsLayer
|
7
|