Statements (68)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
gptkb:protein |
| gptkbp:associated_with |
gptkb:Oncology
ovarian cancer |
| gptkbp:clinical_trial |
high penetrance for breast cancer
moderate penetrance for pancreatic cancer |
| gptkbp:discovery |
gptkb:Nicolas_J._A._van_der_Heijden
|
| gptkbp:discovery_year |
gptkb:2006
|
| gptkbp:diseases |
gptkb:anemia
breast-ovarian cancer syndrome |
| gptkbp:function |
DNA repair
|
| gptkbp:genetic_studies |
increased cancer risk
frameshift mutation missense mutation nonsense mutation |
| https://www.w3.org/2000/01/rdf-schema#label |
PALB2
|
| gptkbp:interacts_with |
gptkb:BRCA2
gptkb:BRCA1 |
| gptkbp:is_expressed_in |
upregulated in tumors
breast tissue downregulated in normal tissues |
| gptkbp:is_tested_for |
genetic testing for mutations
|
| gptkbp:located_in |
gptkb:Atom
gptkb:human_chromosome_16 |
| gptkbp:nutritional_value |
PALB2 protein
|
| gptkbp:orthologs |
PALB2 in mice
PALB2 in zebrafish |
| gptkbp:pathway |
homologous recombination
DNA double-strand break repair |
| gptkbp:promoter |
gptkb:BRCA_family
gptkb:PALB2 DNA repair genes PALB2 gene |
| gptkbp:ref_seq |
NM_024675.4
|
| gptkbp:research |
potential biomarker for cancer
potential for personalized medicine involved in cell cycle regulation studied in clinical trials influences tumor microenvironment associated with DNA repair syndromes associated with cancer susceptibility genes associated with clinical guidelines for testing associated with treatment response important for cancer prevention strategies important for genome stability important for therapeutic strategies influences cancer prognosis influences cancer treatment outcomes involved in DNA damage response involved in homologous recombination repair linked to familial cancer syndromes linked to genetic counseling recommendations linked to hereditary breast cancer linked to hereditary ovarian cancer plays role in apoptosis studied for drug resistance mechanisms studied for its role in tumorigenesis target for gene therapy |
| gptkbp:research_focus |
DNA repair mechanisms
cancer genetics |
| gptkbp:role |
homologous recombination
|
| gptkbp:seed_dispersal |
tumor suppressor gene
|
| gptkbp:targets |
chemotherapy
PARP inhibitors |
| gptkbp:uniprot_id |
Q8 IYB0
|
| gptkbp:bfsParent |
gptkb:BRCA1
gptkb:FANCD3 |
| gptkbp:bfsLayer |
6
|