Bos taurus Gene: FANCD2
Summary
InnateDB Gene IDBG-644629.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FANCD2
Gene Name Fanconi anemia group D2 protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000010077
Encoded Proteins
Fanconi anemia, complementation group D2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000144554:
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 22:16783190-16832321
Strand Reverse strand
Band
Transcripts
ENSBTAT00000013299 ENSBTAP00000013299
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 39 interaction(s) predicted by orthology.
Predicted by orthology
Total 39 [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:0005794 Golgi apparatus
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
TNFalpha pathway
REACTOME
Regulation of the Fanconi anemia pathway pathway
Fanconi Anemia pathway pathway
DNA Repair pathway
DNA Repair pathway
Fanconi Anemia pathway pathway
Regulation of the Fanconi anemia pathway pathway
KEGG
INOH
PID NCI
Fanconi anemia pathway
BARD1 signaling events
ATM pathway
ATR signaling pathway
Cross-References
SwissProt
TrEMBL E1BE83
UniProt Splice Variant
Entrez Gene 515845
UniGene Bt.59671
RefSeq NM_001192429
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02053753 DAAA02053754 DAAA02053755
GenPept
RNA Seq Atlas 515845