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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 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
  • GC06P035637
  • GC06P035646
  • GC06P037765
  • GC06P038389
  • GC06P038979
  • GC06P039567
  • GC06P040128

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 DNA Double-Strand Break Repair.

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

Additional gene information for FANCE Gene

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

Genomics for FANCE Gene

GeneHancer (GH) Regulatory Elements for FANCE Gene

Promoters and enhancers for FANCE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I035451 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 557.3 +0.9 921 3.8 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 E2F8 ZNF207 ZNF143 KLF13 FANCE RPL10A UHRF1BP1
GH06I035341 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31.2 -109.1 -109091 3.2 HDGF HNRNPUL1 PKNOX1 MLX ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 PPARD FANCE TAF11 FKBP5 RPS10 RPL10A TEAD3 BRPF3 ENSG00000219023 MAPK14
GH06I035723 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17.8 +276.8 276758 10.8 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 ZNF548 MCM3 SP3 NFYC FKBP5 TAF11 SRSF3 ZNF76 ENSG00000272374 RPL10A STK38 ENSG00000219023 FANCE PPARD
GH06I035467 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 18.2 +17.8 17801 5.4 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 RPL10A MIR7111 TAF11 BRPF3 ZNF76 ENSG00000272374 FANCE PPARD ARMC12 ANKS1A
GH06I034791 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 13 -660.0 -659987 2.7 HDGF FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2 UHRF1BP1 TAF11 FANCE RPL35P2 ENSG00000272374 ZNF76 RPS10 ENSG00000206717
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FANCE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FANCE gene promoter:

Genomic Locations for FANCE Gene

Genomic Locations for FANCE Gene
chr6:35,452,339-35,467,106
(GRCh38/hg38)
Size:
14,768 bases
Orientation:
Plus strand
chr6:35,420,138-35,434,881
(GRCh37/hg19)

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

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 posLast=8484

Other Protein References for FANCE Gene

No data available for DME Specific Peptides for FANCE Gene

Domains & Families for FANCE Gene

Gene Families for FANCE Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for FANCE Gene

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
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

CRISPR Products

miRNA for FANCE Gene

miRTarBase miRNAs that target FANCE

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FANCE gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

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 & 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0036297 interstrand cross-link repair TAS --
genes like me logo Genes that share ontologies with FANCE: view

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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FANCE Gene



NURSA nuclear receptor signaling pathways regulating expression of FANCE Gene:

FANCE

SOURCE GeneReport for Unigene cluster for FANCE Gene:

Hs.302003

Evidence on tissue expression from TISSUES for FANCE Gene

  • Eye(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FANCE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • radius
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FANCE: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia FANCE 33 34
  • 98.82 (n)
dog
(Canis familiaris)
Mammalia FANCE 33 34
  • 84.36 (n)
cow
(Bos Taurus)
Mammalia FANCE 33 34
  • 83.81 (n)
rat
(Rattus norvegicus)
Mammalia Fance 33
  • 75.62 (n)
mouse
(Mus musculus)
Mammalia Fance 33 16 34
  • 74.33 (n)
oppossum
(Monodelphis domestica)
Mammalia FANCE 34
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FANCE 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves FANCE 33 34
  • 53.6 (n)
lizard
(Anolis carolinensis)
Reptilia FANCE 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fance 33
  • 46.54 (n)
zebrafish
(Danio rerio)
Actinopterygii fance 33 34
  • 47.57 (n)
Species where no ortholog for FANCE was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1008512809 likely-benign, Fanconi anemia, complementation group E 35,452,755(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant
rs1056033165 uncertain-significance, Fanconi anemia 35,452,441(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1060501873 uncertain-significance, Fanconi anemia, complementation group E 35,466,340(+) C/G 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1060501874 uncertain-significance, Fanconi anemia, complementation group E 35,456,310(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1060504374 likely-benign, Fanconi anemia, complementation group E 35,460,628(+) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
nsv519370 CNV loss 19592680
nsv528351 CNV loss 19592680
nsv602909 CNV loss 21841781
nsv602910 CNV loss 21841781
nsv830641 CNV loss 17160897

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)

Additional Variant Information for FANCE Gene

Human Gene Mutation Database (HGMD)
FANCE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group e
  • fance
fanconi anemia, complementation group a
  • fanca
tracheoesophageal fistula
  • tracheoesophageal fistula with or without esophageal atresia
fanconi anemia, complementation group b
  • fancb
congenital hypoplastic anemia
  • fanconi 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.

Additional Disease Information for FANCE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JP … Joenje H (American journal of human genetics 2000) 2 3 4 22 58
  2. Regulation of Rev1 by the Fanconi anemia core complex. (PMID: 22266823) Kim H … D'Andrea AD (Nature structural & molecular biology 2012) 3 4 58
  3. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PMID: 20496165) Monsees GM … Han J (Breast cancer research and treatment 2011) 3 44 58
  4. Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population. (PMID: 19714462) Loizidou MA … Kyriacou K (Breast cancer research and treatment 2010) 3 44 58
  5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58

Products for FANCE Gene

Sources for FANCE Gene

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