Homo sapiens Gene: FANCE
Summary
InnateDB Gene IDBG-84018.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FANCE
Gene Name Fanconi anemia, complementation group E
Synonyms FACE; FAE;
Species Homo sapiens
Ensembl Gene ENSG00000112039
Encoded Proteins
Fanconi anemia, complementation group E
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 E. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:35452361-35467103
Strand Forward strand
Band p21.31
Transcripts
ENST00000229769 ENSP00000229769
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
Experimentally validated
Total 25 [view]
Protein-Protein 23 [view]
Protein-DNA 1 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
Biological Process
GO:0006281 DNA repair
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0043240 Fanconi anaemia nuclear complex
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
REACTOME
Fanconi Anemia pathway pathway
DNA Repair 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
Fanconi anemia pathway
BARD1 signaling events
Cross-References
SwissProt Q9HB96
TrEMBL
UniProt Splice Variant
Entrez Gene 2178
UniGene Hs.302003 Hs.620020
RefSeq NM_021922 XM_005248885 XM_005248888
HUGO HGNC:3586
OMIM 613976
CCDS CCDS4805
HPRD 02943
IMGT
EMBL AF265210 AK292522 AL022721 BC046359 CH471081 DQ020173
GenPept AAG16743 AAH46359 AAY26395 BAF85211 CAD92504 EAX03830
RNA Seq Atlas 2178