Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
gptkb:Fanconi_anemia
|
gptkbp:discoveredIn |
2003
|
gptkbp:encodes |
gptkb:Fanconi_anemia_group_B_protein
|
gptkbp:Entrez_Gene_ID |
2187
ENSG00000181544 |
gptkbp:expressedIn |
various human tissues
|
gptkbp:function |
DNA repair
|
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
HGNC:3582
|
https://www.w3.org/2000/01/rdf-schema#label |
FANCB
|
gptkbp:involvedIn |
interstrand crosslink repair
|
gptkbp:locatedOnChromosome |
gptkb:Xp22.2
X |
gptkbp:mutationAssociatedWith |
increased cancer risk
bone marrow failure |
gptkbp:OMIM |
300515
|
gptkbp:orthologInMouse |
gptkb:Fancb
|
gptkbp:partOf |
gptkb:Fanconi_anemia_core_complex
|
gptkbp:UniProtID |
Q8NB91
|
gptkbp:bfsParent |
gptkb:Fanconi_anemia
|
gptkbp:bfsLayer |
5
|