BRCA2 DNA repair associated

URI: https://gptkb.org/entity/BRCA2_DNA_repair_associated

GPTKB entity

Statements (100)

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alsoKnownAs	gptkb:BRCA2
gptkbp:associatedWith	gptkb:cancer pancreatic cancer prostate cancer
gptkbp:discoveredBy	gptkb:Michael_Stratton
gptkbp:discoveredIn	1995
gptkbp:encodes	gptkb:BRCA2_protein
gptkbp:Entrez_Gene_ID	gptkb:ENSG00000139618 675
gptkbp:expressedIn	gptkb:cervix gptkb:epididymis gptkb:fallopian_tube gptkb:seminal_vesicle gptkb:thyroid gptkb:cancer gptkb:bone gptkb:skin gptkb:pituitary_gland gptkb:skeletal_muscle gptkb:adrenal_gland gptkb:kidney gptkb:placenta gptkb:prostate gptkb:small_intestine gptkb:spinal_cord gptkb:testis gptkb:thymus gptkb:pancreatic_islets brain heart retina liver collagen spleen adipose tissue bladder bone marrow colon esophagus lymph node pancreas parathyroid gland prostate gland salivary gland stomach uterus peripheral neuropathy umbilical cord breast tissue ovarian tissue placental villi fetal liver fetal muscle amniotic membrane chorion fetal adrenal gland fetal bladder fetal bone marrow fetal brain fetal esophagus fetal heart fetal intestine fetal kidney fetal lung fetal ovary fetal pancreas fetal spleen fetal stomach fetal testis fetal thymus lung epithelium fetal lymph node fetal prostate prostate epithelium fetal skin
gptkbp:function	DNA repair homologous recombination
gptkbp:geneType	tumor suppressor
gptkbp:HGNC_ID	HGNC:1101
https://www.w3.org/2000/01/rdf-schema#label	BRCA2 DNA repair associated
gptkbp:inheritance	autosomal dominant
gptkbp:interactsWith	gptkb:PALB2 gptkb:DSS1 gptkb:BRCA1 gptkb:RAD51
gptkbp:involvedIn	tumor suppression double-strand break repair
gptkbp:length	3418 amino acids
gptkbp:locatedOnChromosome	gptkb:chromosome_13 13q13.1
gptkbp:mutationAssociatedWith	germline mutation somatic mutation
gptkbp:numberOfExons	27
gptkbp:OMIM	600185
gptkbp:orthologInMouse	Brca2
gptkbp:orthologInZebrafish	brca2
gptkbp:UniProtID	P51587
gptkbp:bfsParent	gptkb:ENSG00000136826
gptkbp:bfsLayer	7