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 instab... See more...

Aliases for FANCE Gene

Aliases for FANCE Gene

  • FA Complementation Group E 2 3 5
  • Fanconi Anemia Complementation Group E 2 3
  • Fanconi Anemia Group E Protein 3 4
  • FACE 3 4
  • FAE 2 3
  • Protein FACE 4
  • FANCE 5

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
  • GC06P042789
  • GC06P043125
  • GC06P043343
  • GC06P046034
  • GC06P037765
  • GC06P038389
  • GC06P038979
  • GC06P039567
  • GC06P040128
  • GC06P041195
  • GC06P041880
  • GC06P042522
  • GC06P047438
  • GC06P049494

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 (FA 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 DNA Double-Strand Break Repair and Chks in Checkpoint Regulation.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FANCE Gene

Genomics for FANCE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FANCE Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FANCE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FANCE

Top Transcription factor binding sites by QIAGEN in the FANCE gene promoter:
  • ARP-1
  • Bach1
  • CREB
  • deltaCREB
  • E47
  • NF-1
  • NF-1/L
  • Olf-1
  • RFX1
  • ZID

Genomic Locations for FANCE Gene

Latest Assembly
chr6:35,452,338-35,467,106
(GRCh38/hg38)
Size:
14,769 bases
Orientation:
Plus strand

Previous Assembly
chr6:35,420,115-35,434,879
(GRCh37/hg19 by Entrez Gene)
Size:
14,765 bases
Orientation:
Plus strand

chr6:35,420,138-35,434,880
(GRCh37/hg19 by Ensembl)
Size:
14,743 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

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

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:
  • Fanconi anemia group E protein (FANCE_HUMAN)
genes like me logo Genes that share domains with FANCE: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for FANCE Gene

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

miRNA for FANCE Gene

miRTarBase miRNAs that target FANCE

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCE

No data available for Enzyme Numbers (IUBMB) , 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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

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 IEA,IDA 20347428
genes like me logo Genes that share ontologies with FANCE: view

Pathways & Interactions for FANCE Gene

PathCards logo

SuperPathways for FANCE Gene

SuperPathway Contained pathways
1 Fanconi anemia pathway
2 BRCA1 Pathway
.01
-
3 Chks in Checkpoint Regulation
.32
4 DNA Double-Strand Break Repair
5 BARD1 signaling events
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
3 Qiagen pathways for FANCE Gene
  • BRCA1 Pathway
  • DNA Repair Mechanisms
  • Fanconi's Anaemia Pathway

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 IEA,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

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCE

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

Expression for FANCE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for FANCE Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 for research

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 29 30
  • 98.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FANCE 29 30
  • 84.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FANCE 29 30
  • 83.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fance 29
  • 75.62 (n)
Mouse
(Mus musculus)
Mammalia Fance 29 16 30
  • 74.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FANCE 30
  • 49 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FANCE 30
  • 40 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FANCE 29 30
  • 53.6 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FANCE 30
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fance 29
  • 46.54 (n)
Zebrafish
(Danio rerio)
Actinopterygii fance 29 30
  • 47.57 (n)
OneToOne
Species where no ortholog for FANCE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for FANCE: view image
Alliance of Genome Resources:
Additional Orthologs for FANCE

Paralogs for FANCE Gene

No data available for Paralogs for FANCE Gene

Variants for FANCE Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FANCE Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1005434 Uncertain Significance: Fanconi anemia, complementation group E 35,456,159(+) C/T
NM_021922.3(FANCE):c.661C>T (p.Arg221Trp)
MISSENSE
1005762 Uncertain Significance: Fanconi anemia, complementation group E 35,452,745(+) T/C
NM_021922.3(FANCE):c.200T>C (p.Leu67Pro)
MISSENSE
1007334 Uncertain Significance: Fanconi anemia, complementation group E 35,457,944(+) C/T
NM_021922.3(FANCE):c.929C>T (p.Pro310Leu)
MISSENSE
1012140 Uncertain Significance: Fanconi anemia, complementation group E 35,466,341(+) C/G
NM_021922.3(FANCE):c.1607C>G (p.Pro536Arg)
MISSENSE
1014467 Uncertain Significance: Fanconi anemia, complementation group E 35,455,775(+) A/T
NM_021922.3(FANCE):c.277A>T (p.Ile93Leu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FANCE Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
FANCE

SNP Genotyping and Copy Number Assays for research

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

Disorders for FANCE Gene

MalaCards: The human disease database

(22) MalaCards diseases for FANCE Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

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 variants affecting the gene represented in this entry.

Additional Disease Information for FANCE

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  2. Insights into Fanconi Anaemia from the structure of human FANCE. (PMID: 17308347) Nookala RK … Pellegrini L (Nucleic acids research 2007) 3 22 72
  3. Regulation of Rev1 by the Fanconi anemia core complex. (PMID: 22266823) Kim H … D'Andrea AD (Nature structural & molecular biology 2012) 3 4
  4. 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 40
  5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 40

Products for FANCE Gene

Sources for FANCE Gene