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FANCE Gene(Protein Coding)

Fanconi Anemia Complementation Group E

GCID:
GC06P039567
GIFtS:
59
Genes Participants
UDN Logo

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

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 Fanconi anemia pathway and Chks in Checkpoint Regulation.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCE Gene

Genomics for FANCE Gene

Products:

  1. Regulatory Element

Regulatory Elements for FANCE Gene


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
ENSR00000196089 361 1401 HDGF HNRNPUL1 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF143 ZNF207

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

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 Structure • Gene Density

RefSeq DNA sequence for FANCE Gene

Proteins for FANCE Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for FANCE Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for FANCE

No data available for DME Specific Peptides for FANCE Gene

Domains & Families for FANCE Gene

Gene Families for FANCE Gene

HGNC:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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

Flow Cytometry Products

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

Nucleus.

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

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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for FANCE Gene

(6) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(39) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FANCE Gene

Fanconi anemia, complementation group E:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FANCE Gene

mRNA expression in normal human tissues for FANCE Gene
mRNA expression by BioGPS for FANCE GenemRNA expression by GTEx 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
Organs:
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 34 35
  • 98.82 (n)
dog
(Canis familiaris)
 Mammalia FANCE 34 35
  • 84.36 (n)
cow
(Bos Taurus)
 Mammalia FANCE 34 35
  • 83.81 (n)
rat
(Rattus norvegicus)
 Mammalia Fance 34
  • 75.62 (n)
mouse
(Mus musculus)
 Mammalia Fance 34 16 35
  • 74.33 (n)
oppossum
(Monodelphis domestica)
 Mammalia FANCE 35
  • 49 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia FANCE 35
  • 40 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FANCE 34 35
  • 53.6 (n)
lizard
(Anolis carolinensis)
 Reptilia FANCE 35
  • 53 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fance 34
  • 46.54 (n)
zebrafish
(Danio rerio)
 Actinopterygii fance 34 35
  • 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 Sequence Context AA Info Type
VAR_038022 Fanconi anemia complementation group E (FANCE) [MIM:600901]
rs121434505 Pathogenic 35,455,853(+) TGCTG(C/T)AGATT nc-transcript-variant, reference, stop-gained
rs121434506 Pathogenic 35,455,919(+) TGCTG(C/T)GAAGG nc-transcript-variant, reference, stop-gained
rs878854342 Pathogenic 35,459,323(+) CTGTT(A/G)GCTGT intron-variant
rs763151358 Likely pathogenic 35,456,096(+) GGAAA(C/T)GCAGA nc-transcript-variant, reference, missense

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)

Relevant External Links 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: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group e
  • fanconi anemia complementation group e
fance-related fanconi anemia
fanconi anemia, complementation group a
  • fanconi's 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 22 64
  2. Regulation of Rev1 by the Fanconi anemia core complex. (PMID: 22266823) Kim H. … D'Andrea A.D. (Nat. Struct. Mol. Biol. 2012) 3 4 64
  3. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PMID: 20496165) Monsees G.M. … Han J. (Breast Cancer Res. Treat. 2011) 3 46 64
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  5. Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population. (PMID: 19714462) Loizidou M.A. … Kyriacou K. (Breast Cancer Res. Treat. 2010) 3 46 64

Products for FANCE Gene

Sources for FANCE Gene

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