Homo sapiens Gene: FANCD2
Summary
InnateDB Gene IDBG-17539.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol FANCD2
Gene Name Fanconi anemia, complementation group D2
Synonyms FA-D2; FA4; FACD; FAD; FAD2; FANCD;
Species Homo sapiens
Ensembl Gene ENSG00000144554
Encoded Proteins
Fanconi anemia, complementation group D2
Fanconi anemia, complementation group D2
Fanconi anemia, complementation group D2
Fanconi anemia, complementation group D2
Fanconi anemia, complementation group D2
Fanconi anemia, complementation group D2
Fanconi anemia, complementation group D2
Protein Structure
Entrez Gene
Summary The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:10068098-10143614
Strand Forward strand
Band p25.3
Transcripts
ENST00000383807 ENSP00000373318
ENST00000383806 ENSP00000373317
ENST00000287647 ENSP00000287647
ENST00000435522 ENSP00000402166
ENST00000419585 ENSP00000398754
ENST00000431693 ENSP00000399354
ENST00000438741
ENST00000421731 ENSP00000389936
ENST00000483276
ENST00000464934
ENST00000470757
ENST00000480909
ENST00000470028
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 66 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 66 [view]
Protein-Protein 64 [view]
Protein-DNA 1 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
GO:0005515 protein binding
Biological Process
GO:0006281 DNA repair
GO:0006974 response to DNA damage stimulus
GO:0007129 synapsis
GO:0007276 gamete generation
GO:0010332 response to gamma radiation
Cellular Component
GO:0000793 condensed chromosome
GO:0005654 nucleoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
TNFalpha pathway
REACTOME
Regulation of the Fanconi anemia pathway pathway
Fanconi Anemia pathway pathway
KEGG
INOH
PID BIOCARTA
Brca1 dependent ub ligase activity [Biocarta view]
Role of brca1 brca2 and atr in cancer susceptibility [Biocarta view]
PID NCI
BARD1 signaling events
ATM pathway
ATR signaling pathway
Fanconi anemia pathway
Cross-References
SwissProt Q9BXW9
TrEMBL F8WE37 H7BZ21
UniProt Splice Variant
Entrez Gene 2177
UniGene Hs.208388 Hs.682425
RefSeq NM_001018115 NM_033084
HUGO 3585
OMIM 613984
CCDS CCDS2595 CCDS33696
HPRD 01968
IMGT
EMBL AC034193 AF230336 AF273222 AF273223 AF273224 AF273225 AF273226 AF273227 AF273228 AF273229 AF273230 AF273231 AF273232 AF273233 AF273234 AF273235 AF273236 AF273237 AF273238 AF273239 AF273240 AF273241 AF273242 AF273243 AF273244 AF273245 AF273246 AF273247 AF273248 AF273249 AF273250 AF273251 AF340183 AK022613 AL832427 BC013582 DQ341263
GenPept AAH13582 AAK15369 AAK18772 AAK18773 AAL05980 ABC67466 BAB14132 CAH10647
ImmGen FANCD2 (murine)
RNA Seq Atlas 2177