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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:FANCN
Partner and localizer of BRCA2
|
|
gptkbp:associatedWith
|
gptkb:Fanconi_anemia_type_N
gptkb:cancer
gptkb:Fanconi_anemia
gptkb:hereditary_breast_and_ovarian_cancer_syndrome
pancreatic cancer
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for cancer risk
|
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gptkbp:discoveredIn
|
2006
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gptkbp:encodes
|
gptkb:PALB2_protein
|
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gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000083093
79728
|
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gptkbp:expressedIn
|
various human tissues
|
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gptkbp:fullName
|
gptkb:Partner_and_Localizer_of_BRCA2
|
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gptkbp:function
|
DNA repair
homologous recombination
|
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gptkbp:hasTranscriptVariant
|
multiple
|
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gptkbp:HGNC_ID
|
gptkb:HGNC:26144
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PALB2 gene
|
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gptkbp:inheritance
|
autosomal dominant (for cancer risk)
autosomal recessive (for Fanconi anemia)
|
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gptkbp:interactsWith
|
gptkb:BRCA1_protein
gptkb:BRCA2_protein
gptkb:RAD51_protein
|
|
gptkbp:length
|
13 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:16p12.2
16
|
|
gptkbp:mutationAssociatedWith
|
gptkb:ClinVar
gptkb:HGMD
gptkb:LOVD
germline
increased cancer risk
somatic
|
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gptkbp:OMIM
|
610355
|
|
gptkbp:orthologIn
|
present in mammals
|
|
gptkbp:orthologInMouse
|
Palb2
|
|
gptkbp:pathway
|
Fanconi anemia pathway
homologous recombination repair pathway
|
|
gptkbp:product
|
gptkb:PALB2_protein
|
|
gptkbp:proteinFamily
|
coiled-coil domain
WD40 repeats
Fanconi anemia complementation group
chromatin-association motif
|
|
gptkbp:regulates
|
histone modification
transcriptional regulation
|
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gptkbp:species
|
gptkb:Homo_sapiens
|
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gptkbp:UniProtID
|
gptkb:Q86YC2
|
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gptkbp:bfsParent
|
gptkb:Partner_and_localizer_of_BRCA2_protein
|
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gptkbp:bfsLayer
|
7
|