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Aliases for FANCE Gene

Aliases for FANCE Gene

  • Fanconi Anemia, Complementation Group E 2 3
  • FACE 3 4 6
  • Fanconi Anemia Group E Protein 3
  • Protein FACE 4
  • FAE 3

External Ids for FANCE Gene

Previous HGNC Symbols for FANCE Gene

  • FACE

Previous GeneCards Identifiers for FANCE Gene

  • GC06P035422
  • GC06P035466
  • GC06P035528
  • GC06P035140
  • GC06P035565
  • GC06P035783
  • GC06P036308
  • GC06P037294

Summaries for FANCE Gene

Entrez Gene Summary for FANCE Gene

  • 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]

GeneCards Summary for FANCE Gene

FANCE (Fanconi Anemia, Complementation Group E) is a Protein Coding gene. Diseases associated with FANCE include fanconi anemia, complementation group e and fance-related fanconi anemia. Among its related pathways are Chks in Checkpoint Regulation and BRCA1 Pathway.

UniProtKB/Swiss-Prot for FANCE Gene

  • As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.

Gene Wiki entry for FANCE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCE Gene

Genomics for FANCE Gene

Regulatory Elements for FANCE Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FANCE Gene

Start:
35,452,339 bp from pter
End:
35,467,141 bp from pter
Size:
14,803 bases
Orientation:
Plus strand

Genomic View for FANCE Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FANCE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANCE Gene

Proteins for FANCE Gene

  • Protein details for FANCE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HB96-FANCE_HUMAN
    Recommended name:
    Fanconi anemia group E protein
    Protein Accession:
    Q9HB96
    Secondary Accessions:
    • A8K907
    • Q4ZGH2

    Protein attributes for FANCE Gene

    Size:
    536 amino acids
    Molecular mass:
    58711 Da
    Quaternary structure:
    • Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. Interacts with FANCC and FANCD2.

    Three dimensional structures from OCA and Proteopedia for FANCE Gene

neXtProt entry for FANCE Gene

Proteomics data for FANCE Gene at MOPED

Post-translational modifications for FANCE Gene

  • Phosphorylated. Phosphorylation by CHEK1 at Thr-346 and Ser-374 regulates its function in DNA cross-links repair.
  • Ubiquitinated. Phosphorylation by CHEK1 induces polyubiquitination and degradation.
  • Ubiquitination at Lys84
  • Modification sites at PhosphoSitePlus

Other Protein References for FANCE Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for FANCE Gene

Domains for FANCE Gene

Gene Families for FANCE Gene

HGNC:
  • FANC :Fanconi anemia, complementation groups

Protein Domains for FANCE Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FANCE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FANCE: view

No data available for UniProtKB/Swiss-Prot for FANCE Gene

Function for FANCE Gene

Molecular function for FANCE Gene

UniProtKB/Swiss-Prot Function:
As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.

Gene Ontology (GO) - Molecular Function for FANCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with FANCE: view

Phenotypes for FANCE Gene

genes like me logo Genes that share phenotypes with FANCE: view

Animal Model Products

miRNA for FANCE Gene

miRTarBase miRNAs that target FANCE

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for FANCE Gene

Localization for FANCE Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANCE Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FANCE Gene COMPARTMENTS Subcellular localization image for FANCE gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for FANCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 11001585
GO:0005654 nucleoplasm TAS --
GO:0043240 Fanconi anaemia nuclear complex IDA 20347428
genes like me logo Genes that share ontologies with FANCE: view

Pathways for FANCE Gene

genes like me logo Genes that share pathways with FANCE: view

Pathways by source for FANCE Gene

1 BioSystems pathway for FANCE Gene
2 Reactome pathways for FANCE Gene
1 KEGG pathway for FANCE Gene

Gene Ontology (GO) - Biological Process for FANCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair TAS --
genes like me logo Genes that share ontologies with FANCE: view

Compounds for FANCE Gene

(1) Novoseek inferred chemical compound relationships for FANCE Gene

Compound -log(P) Hits PubMed IDs
mitomycin c 55.8 1
genes like me logo Genes that share compounds with FANCE: view

Transcripts for FANCE Gene

Unigene Clusters for FANCE Gene

Fanconi anemia, complementation group E:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FANCE

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FANCE Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for FANCE Gene

GeneLoc Exon Structure for
FANCE
ECgene alternative splicing isoforms for
FANCE

Expression for FANCE Gene

mRNA expression in normal human tissues for FANCE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for FANCE Gene

This gene is overexpressed in Blymphocyte (16.9), Rectum (15.6), Platelet (11.5), Pancreas (8.7), Bone (7.5), and Kidney (6.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FANCE Gene

SOURCE GeneReport for Unigene cluster for FANCE Gene Hs.302003

genes like me logo Genes that share expressions with FANCE: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Expression partners for FANCE Gene

Orthologs for FANCE Gene

This gene was present in the common ancestor of chordates.

Orthologs for FANCE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FANCE 35
  • 83.81 (n)
  • 79.05 (a)
FANCE 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FANCE 35
  • 84.36 (n)
  • 79.15 (a)
FANCE 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fance 35
  • 74.33 (n)
  • 66.28 (a)
Fance 16
Fance 36
  • 71 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FANCE 35
  • 98.82 (n)
  • 98.32 (a)
FANCE 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fance 35
  • 75.62 (n)
  • 67.65 (a)
oppossum
(Monodelphis domestica)
Mammalia FANCE 36
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FANCE 36
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves FANCE 35
  • 53.6 (n)
  • 42.63 (a)
FANCE 36
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FANCE 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fance 35
  • 46.54 (n)
  • 36.4 (a)
zebrafish
(Danio rerio)
Actinopterygii fance 35
  • 47.57 (n)
  • 35.62 (a)
fance 36
  • 32 (a)
OneToOne
Species with no ortholog for FANCE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FANCE Gene

ENSEMBL:
Gene Tree for FANCE (if available)
TreeFam:
Gene Tree for FANCE (if available)

Paralogs for FANCE Gene

No data available for Paralogs for FANCE Gene

Variants for FANCE Gene

Sequence variations from dbSNP and Humsavar for FANCE Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs2395626 -- 35,454,977(+) TTTAG(G/T)AACTC intron-variant
rs3800376 -- 35,458,213(-) AGCAG(A/G)CAGAG intron-variant
rs3800377 -- 35,456,411(-) CCCCA(C/T)GGATA intron-variant
rs3823434 -- 35,458,398(-) TTGCT(A/G)AGGCT reference, synonymous-codon
rs4713866 -- 35,452,490(+) TCAGC(C/T)TCTGA utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for FANCE Gene

Variant ID Type Subtype PubMed ID
nsv830641 CNV Loss 17160897
nsv528351 CNV Loss 19592680
nsv885799 CNV Loss 21882294
nsv519370 CNV Loss 19592680

Relevant External Links for FANCE Gene

HapMap Linkage Disequilibrium report
FANCE
Human Gene Mutation Database (HGMD)
FANCE
Locus Specific Mutation Databases (LSDB)
FANCE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCE Gene

Disorders for FANCE Gene

(1) OMIM Diseases for FANCE Gene (613976)

UniProtKB/Swiss-Prot

FANCE_HUMAN
  • Fanconi anemia complementation group E (FANCE) [MIM:600901]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for FANCE Gene

(5) Novoseek inferred disease relationships for FANCE Gene

Disease -log(P) Hits PubMed IDs
fanconis anemia 94 8
hnscc 49.5 2
cancer 36.7 2
anemia 20.8 2
breast cancer 12.5 1

Relevant External Links for FANCE

GeneTests
FANCE
GeneReviews
FANCE
Genetic Association Database (GAD)
FANCE
Human Genome Epidemiology (HuGE) Navigator
FANCE
genes like me logo Genes that share disorders with FANCE: view

No data available for Genatlas for FANCE Gene

Publications for FANCE Gene

  1. Isolation of a cDNA representing the Fanconi anemia complementation group E gene. (PMID: 11001585) de Winter J.P. … Joenje H. (Am. J. Hum. Genet. 2000) 2 3 4 23
  2. FANCC, FANCE, and FANCD2 form a ternary complex essential to the integrity of the Fanconi anemia DNA damage response pathway. (PMID: 16127171) Gordon S.M. … Buchwald M. (J. Biol. Chem. 2005) 3 23
  3. The nuclear accumulation of the Fanconi anemia protein FANCE depends on FANCC. (PMID: 16513431) LAcveillAc F. … de Winter J.P. (DNA Repair (Amst.) 2006) 3 23
  4. The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC. (PMID: 12239156) Taniguchi T. … D'Andrea A.D. (Blood 2002) 3 23
  5. Insights into Fanconi Anaemia from the structure of human FANCE. (PMID: 17308347) Nookala R.K. … Pellegrini L. (Nucleic Acids Res. 2007) 3 23

Products for FANCE Gene

Sources for FANCE Gene

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