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Aliases for FANCE Gene

Aliases for FANCE Gene

  • Fanconi Anemia Complementation Group E 2 3 5
  • FACE 3 4
  • Fanconi Anemia, Complementation Group E 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
  • GC06P035637
  • GC06P035646

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 fanconi anemia, complementation group a. Among its related pathways are Fanconi anemia pathway 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

Enhancers for FANCE Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FANCE on UCSC Golden Path with GeneCards custom track

Promoters for FANCE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FANCE on UCSC Golden Path with GeneCards custom track

Genomic Location for FANCE Gene

Chromosome:
6
Start:
35,452,339 bp from pter
End:
35,467,106 bp from pter
Size:
14,768 bases
Orientation:
Plus strand

Genomic View for FANCE Gene

Genes around FANCE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FANCE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 84
  • Modification sites at PhosphoSitePlus

Other Protein References for FANCE Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FANCE Gene

Domains & Families for FANCE Gene

Gene Families for FANCE Gene

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

Human Phenotype Ontology for FANCE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for FANCE Gene

miRTarBase miRNAs that target FANCE

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with FANCE: view

Pathways & Interactions 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

SIGNOR curated interactions for FANCE Gene

Is activated by:

Gene Ontology (GO) - Biological Process for FANCE Gene

None

Drugs & Compounds for FANCE Gene

(1) Drugs for FANCE Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with FANCE: view

Transcripts for FANCE Gene

mRNA/cDNA for FANCE Gene

Unigene Clusters for FANCE Gene

Fanconi anemia, complementation group E:
Representative Sequences:

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

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines 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 expression patterns with FANCE: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-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
rs45600543 - 35,455,764(+) GCTGC(A/G/T)ATTGC reference, missense, utr-variant-5-prime
rs7761870 - 35,456,109(+) GGACT(C/T)AGAGG reference, missense
rs45524646 - 35,458,345(+) ACCTC(C/G)GTCTC reference, missense
rs45467798 - 35,458,355(+) CCTGC(A/G)GCTCT reference, missense
rs9462088 - 35,462,909(+) ATCAG(A/G)CTAAC intron-variant, reference, missense

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

Variation tolerance for FANCE Gene

Residual Variation Intolerance Score: 85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.46; 82.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FANCE Gene

HapMap Linkage Disequilibrium report
FANCE
Human Gene Mutation Database (HGMD)
FANCE

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

Disorders for FANCE Gene

MalaCards: The human disease database

(6) MalaCards diseases for FANCE Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group e
  • faces syndrome
fanconi anemia, complementation group a
  • fanconi's anemia
fance-related fanconi anemia
fanconi anemia, complementation group b
  • fanconi anemia complementation group b
congenital hypoplastic anemia
  • congenital aplastic anemia
- elite association - COSMIC cancer census association via MalaCards
Search FANCE in MalaCards View complete list of genes associated with diseases

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. {ECO:0000269 PubMed:11001585, ECO:0000269 PubMed:17924555}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FANCE

Genetic Association Database (GAD)
FANCE
Human Genome Epidemiology (HuGE) Navigator
FANCE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 67
  2. Insights into Fanconi Anaemia from the structure of human FANCE. (PMID: 17308347) Nookala R.K. … Pellegrini L. (Nucleic Acids Res. 2007) 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. 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
  5. The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC. (PMID: 12239156) Taniguchi T. … D'Andrea A.D. (Blood 2002) 3 23

Products for FANCE Gene

Sources for FANCE Gene

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