|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:cancer
melanoma
pancreatic cancer
prostate cancer
|
|
gptkbp:discoveredBy
|
gptkb:Michael_Stratton
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodes
|
gptkb:BRCA2_protein
|
|
gptkbp:Entrez_Gene_ID
|
675
|
|
gptkbp:expressedIn
|
gptkb:cervix
gptkb:epididymis
gptkb:fallopian_tube
gptkb:leukocytes
gptkb:thyroid
gptkb:cancer
gptkb:pituitary_gland
gptkb:skeletal_muscle
gptkb:adrenal_gland
gptkb:kidney
gptkb:placenta
gptkb:prostate
gptkb:small_intestine
gptkb:testis
gptkb:thymus
gptkb:pancreatic_islets
brain
heart
liver
spleen
bladder
bone marrow
colon
esophagus
pancreas
prostate gland
salivary gland
stomach
uterus
umbilical cord
breast tissue
ovarian tissue
placental villi
fetal liver
amniotic membrane
chorion
fetal adrenal gland
fetal amnion
fetal bladder
fetal bone marrow
fetal brain
fetal chorion
fetal colon
fetal esophagus
fetal heart
fetal intestine
fetal kidney
fetal leukocytes
fetal lung
fetal ovary
fetal pancreas
fetal pituitary gland
fetal placenta
fetal salivary gland
fetal small intestine
fetal spleen
fetal stomach
fetal testis
fetal thymus
fetal thyroid
fetal umbilical cord
ovarian follicle
testicular tissue
|
|
gptkbp:fullName
|
gptkb:Breast_cancer_type_2_susceptibility_protein
|
|
gptkbp:function
|
DNA repair
homologous recombination
|
|
gptkbp:geneType
|
tumor suppressor
|
|
gptkbp:HGNC_ID
|
1101
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
BRCA2
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
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
|
|
gptkbp:OMIM
|
600185
|
|
gptkbp:orthologInMouse
|
Brca2
|
|
gptkbp:orthologInZebrafish
|
brca2
|
|
gptkbp:UniProtID
|
P51587
|
|
gptkbp:bfsParent
|
gptkb:ENSG00000145675
gptkb:HGNC:1097
gptkb:BRCM
gptkb:FANCD2
gptkb:FANCG
gptkb:FANCN
gptkb:ENSG00000135605
gptkb:advanced_hormone_receptor-positive,_HER2-negative_breast_cancer
|
|
gptkbp:bfsLayer
|
6
|