|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:FAD
FACD
FA-D2
FANCD
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Fanconi_anemia
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredIn
|
1999
|
|
gptkbp:encodes
|
gptkb:Fanconi_anemia_group_D2_protein
|
|
gptkbp:Entrez_Gene_ID
|
2177
|
|
gptkbp:expressedIn
|
various human tissues
|
|
gptkbp:function
|
DNA repair
|
|
gptkbp:gene
|
gptkb:FANCD2
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
3587
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FANCD2 gene
|
|
gptkbp:interactsWith
|
gptkb:FANCG_protein
gptkb:FANCI_protein
gptkb:FANCA_protein
gptkb:FANCC_protein
gptkb:FANCE_protein
gptkb:FANCF_protein
gptkb:FANCL_protein
gptkb:FANCM_protein
gptkb:BRCA2_protein
|
|
gptkbp:involvedIn
|
Fanconi anemia pathway
|
|
gptkbp:length
|
43,000 base pairs (approximate)
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_3
3p25.3
|
|
gptkbp:monoubiquitinatedBy
|
gptkb:FANCL_protein
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
insertion
missense
increased cancer risk
bone marrow failure
frameshift
splice site
|
|
gptkbp:numberOfExons
|
44
|
|
gptkbp:OMIM
|
227646
|
|
gptkbp:orthologInMouse
|
gptkb:Fancd2
|
|
gptkbp:orthologInZebrafish
|
fancd2
|
|
gptkbp:pathway
|
cell cycle checkpoint
homologous recombination
interstrand crosslink repair
|
|
gptkbp:product
|
gptkb:FANCD2_protein
|
|
gptkbp:referenceGenome
|
gptkb:GRCh37
gptkb:GRCh38
|
|
gptkbp:UniProtID
|
Q9BXW9
|
|
gptkbp:bfsParent
|
gptkb:Fanconi_anemia,_complementation_group_D2
gptkb:Fanconi_anemia_group_D2_protein
|
|
gptkbp:bfsLayer
|
7
|