|
gptkbp:instanceOf
|
gptkb:Ensembl_gene_ID
|
|
gptkbp:associatedWith
|
gptkb:cancer
|
|
gptkbp:chromosomeArm
|
q
|
|
gptkbp:describes
|
gptkb:BRCA2_DNA_repair_associated
|
|
gptkbp:discoveredBy
|
gptkb:Michael_Stratton
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:essentialGene
|
true
|
|
gptkbp:function
|
DNA repair
homologous recombination
|
|
gptkbp:gene
|
gptkb:BRCA2
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO_term
|
GO:0005515
GO:0005634
GO:0000724
GO:0003677
GO:0006281
GO:0006289
GO:0006974
|
|
gptkbp:hasMouseModel
|
MGI:104537
|
|
gptkbp:hasPseudogene
|
gptkb:BRCA2P1
|
|
gptkbp:hasTranscript
|
gptkb:ENST00000544455
gptkb:ENST00000530893
ENST00000380152
ENST00000533771
|
|
gptkbp:HGNC_ID
|
HGNC:1101
|
|
gptkbp:isClinicallyActionable
|
true
|
|
gptkbp:isHereditaryCancerGene
|
true
|
|
gptkbp:isInPathway
|
Fanconi anemia pathway
DNA double-strand break repair
Homologous recombination repair pathway
|
|
gptkbp:isTumorSuppressor
|
true
|
|
gptkbp:locatedOnChromosome
|
13
13q13.1
|
|
gptkbp:location
|
gptkb:nucleus
|
|
gptkbp:OMIM
|
600185
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
Danio rerio brca2
Mus musculus Brca2
|
|
gptkbp:product
|
gptkb:BRCA2_protein
|
|
gptkbp:RefSeq
|
NM_000059
|
|
gptkbp:startPoint
|
32315474
32400266
|
|
gptkbp:strand
|
minus
|
|
gptkbp:target
|
PARP inhibitors
|
|
gptkbp:UniProtID
|
P51587
|
|
gptkbp:bfsParent
|
gptkb:ENST00000393449
gptkb:ENST00000404293
gptkb:ENSP00000265335
gptkb:ENST00000265335
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ENSG00000139618
|