|
gptkbp:instanceOf
|
gptkb:Ensembl_gene_ID
|
|
gptkbp:alias
|
gptkb:FAD
gptkb:BRCC2
gptkb:FAD1
gptkb:FANCD1
|
|
gptkbp:associatedWith
|
gptkb:cancer
gptkb:Fanconi_anemia
|
|
gptkbp:biologicalProcess
|
gptkb:cell_cycle_checkpoint
DNA repair
DNA binding
recombinase activator activity
|
|
gptkbp:cellularComponent
|
gptkb:nucleus
|
|
gptkbp:discoveredBy
|
gptkb:Michael_Stratton
|
|
gptkbp:discoveredIn
|
1994
|
|
gptkbp:Entrez_Gene_ID
|
675
|
|
gptkbp:function
|
DNA repair
homologous recombination
|
|
gptkbp:gene
|
gptkb:BRCA2
|
|
gptkbp:geneType
|
protein_coding
|
|
gptkbp:hasParalog
|
gptkb:BRCA1
|
|
gptkbp:hasTranscript
|
gptkb:ENST00000544455
ENST00000380152
|
|
gptkbp:HGNC_ID
|
HGNC:1101
|
|
gptkbp:length
|
3418 amino acids
|
|
gptkbp:locatedOnChromosome
|
13
13q13.1
|
|
gptkbp:location
|
gptkb:nucleus
|
|
gptkbp:mutationAssociatedWith
|
gptkb:hereditary_breast_and_ovarian_cancer_syndrome
increased cancer risk
|
|
gptkbp:numberOfExons
|
27
|
|
gptkbp:OMIM
|
600185
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
Danio rerio brca2
Mus musculus Brca2
|
|
gptkbp:pathway
|
gptkb:Fanconi_anemia_pathway_(KEGG:_hsa03460)
gptkb:Homologous_recombination_(KEGG:_hsa03440)
|
|
gptkbp:product
|
gptkb:Breast_cancer_type_2_susceptibility_protein
|
|
gptkbp:RefSeq
|
NM_000059
|
|
gptkbp:startPoint
|
32315474
32400266
|
|
gptkbp:strand
|
minus
|
|
gptkbp:tissue_specificity
|
gptkb:breast
gptkb:prostate
gptkb:testis
pancreas
|
|
gptkbp:transcriptCount
|
12
|
|
gptkbp:UniProtID
|
P51587
|
|
gptkbp:bfsParent
|
gptkb:PKLR
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ENSG00000143627
|