Version 5.4
Homo sapiens Gene: FANCD2
Summary
InnateDB Gene IDBG-17539.6
Last Modified 2014-10-13 [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
IDBP-17541
Fanconi anemia, complementation group D2
IDBP-17545
Fanconi anemia, complementation group D2
IDBP-362737
Fanconi anemia, complementation group D2
IDBP-362739
Fanconi anemia, complementation group D2
IDBP-362743
Fanconi anemia, complementation group D2
IDBP-362746
Fanconi anemia, complementation group D2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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 3:10026414-10101930
Strand Forward strand
Band p25.3
Transcripts
ENST00000383807 ENSP00000373318
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 76 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 76 [view]
Protein-Protein 73 [view]
Protein-DNA 2 [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
GO:0070182 DNA polymerase binding
Biological Process
GO:0006281 DNA repair
GO:0006974 cellular 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:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005794 Golgi apparatus
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000034023
View Gene Order
ENSBTAG00000010077
Not yet available
Pathways
NETPATH
NetPath_9
TNFalpha pathway
REACTOME
REACT_18265
Regulation of the Fanconi anemia pathway pathway
REACT_18410
Fanconi Anemia pathway pathway
REACT_216
DNA Repair pathway
KEGG
INOH
PID NCI
fanconi_pathway
Fanconi anemia pathway
bard1pathway
BARD1 signaling events
atm_pathway
ATM pathway
atr_pathway
ATR signaling pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.208388 Hs.682425
RefSeq NM_001018115 NM_033084 XM_005264946 XM_006713021 XM_006713022
HUGO
OMIM
CCDS CCDS2595 CCDS33696
HPRD 01968
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca