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Aliases for FANCF Gene

Aliases for FANCF Gene

  • Fanconi Anemia, Complementation Group F 2 3
  • Protein FACF 4
  • FAF 3

External Ids for FANCF Gene

Previous GeneCards Identifiers for FANCF Gene

  • GC11M024061
  • GC11M023445
  • GC11M022683
  • GC11M022608
  • GC11M022327

Summaries for FANCF Gene

Entrez Gene Summary for FANCF 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 F. [provided by RefSeq, Jul 2008]

GeneCards Summary for FANCF Gene

FANCF (Fanconi Anemia, Complementation Group F) is a Protein Coding gene. Diseases associated with FANCF include fanconi anemia, complementation group f and fancf-related fanconi anemia. Among its related pathways are Chks in Checkpoint Regulation and BRCA1 Pathway. GO annotations related to this gene include ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot for FANCF Gene

  • DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity).

Gene Wiki entry for FANCF Gene

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

Genomics for FANCF Gene

Regulatory Elements for FANCF Gene

Epigenetics Products

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

Genomic Location for FANCF Gene

22,622,519 bp from pter
22,626,787 bp from pter
4,269 bases
Minus strand

Genomic View for FANCF Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for FANCF Gene

Proteins for FANCF Gene

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

    Protein Symbol:
    Recommended name:
    Fanconi anemia group F protein
    Protein Accession:
    Secondary Accessions:
    • Q52LM0

    Protein attributes for FANCF Gene

    374 amino acids
    Molecular mass:
    42254 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. In complex with FANCA, FANCG and FANCL, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins.

    Three dimensional structures from OCA and Proteopedia for FANCF Gene

neXtProt entry for FANCF Gene

Proteomics data for FANCF Gene at MOPED

Post-translational modifications for FANCF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FANCF Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for FANCF Gene

Domains & Families for FANCF Gene

Gene Families for FANCF Gene

Protein Domains for FANCF Gene


Suggested Antigen Peptide Sequences for FANCF Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for FANCF Gene

Molecular function for FANCF Gene

GENATLAS Biochemistry:
putative RNA binding protein,highly homolog to the prokaryotic RNA-binding protein ROM,intronless
UniProtKB/Swiss-Prot Function:
DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity).

Gene Ontology (GO) - Molecular Function for FANCF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 11063725
GO:0061630 ubiquitin protein ligase activity IEA --
genes like me logo Genes that share ontologies with FANCF: view
genes like me logo Genes that share phenotypes with FANCF: view

Animal Model Products

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

Localization for FANCF Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANCF Gene

Subcellular locations from

Jensen Localization Image for FANCF Gene COMPARTMENTS Subcellular localization image for FANCF gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for FANCF Gene

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

Pathways & Interactions for FANCF Gene

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

Pathways by source for FANCF Gene

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

SIGNOR curated interactions for FANCF Gene

Is activated by:

Gene Ontology (GO) - Biological Process for FANCF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0006281 DNA repair TAS --
GO:0006974 cellular response to DNA damage stimulus --
GO:0007283 spermatogenesis IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with FANCF: view

Drugs & Compounds for FANCF Gene

(1) Drugs for FANCF Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mitomycin Approved Pharma Inhibits DNA synthesis,antibiotic and antitumor agent 0
genes like me logo Genes that share compounds with FANCF: view

Transcripts for FANCF Gene

mRNA/cDNA for FANCF Gene

(1) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FANCF Gene

Fanconi anemia, complementation group F:
Representative Sequences:

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

No ASD Table

Relevant External Links for FANCF Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FANCF Gene

mRNA expression in normal human tissues for FANCF Gene

Protein differential expression in normal tissues from HIPED for FANCF Gene

This gene is overexpressed in Bone (35.6), Liver, secretome (13.2), Lung (11.2), and Plasma (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FANCF Gene

SOURCE GeneReport for Unigene cluster for FANCF Gene Hs.632151

genes like me logo Genes that share expression patterns with FANCF: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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 FANCF Gene

Orthologs for FANCF Gene

This gene was present in the common ancestor of chordates.

Orthologs for FANCF Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia FANCF 35
  • 80.62 (n)
  • 74.16 (a)
  • 74 (a)
(Mus musculus)
Mammalia Fancf 35
  • 61.11 (n)
  • 53.27 (a)
Fancf 16
Fancf 36
  • 52 (a)
(Pan troglodytes)
Mammalia FANCF 35
  • 99.2 (n)
  • 98.4 (a)
  • 98 (a)
(Rattus norvegicus)
Mammalia Fancf 35
  • 60.87 (n)
  • 56.05 (a)
(Canis familiaris)
Mammalia FANCF 36
  • 50 (a)
(Monodelphis domestica)
Mammalia FANCF 36
  • 42 (a)
(Gallus gallus)
Aves FANCF 35
  • 53.12 (n)
  • 42.11 (a)
  • 35 (a)
(Anolis carolinensis)
Reptilia FANCF 36
  • 42 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fancf 35
  • 43 (n)
  • 28.7 (a)
(Danio rerio)
Actinopterygii fancf 35
  • 43.48 (n)
  • 31.37 (a)
fancf 36
  • 29 (a)
Species with no ortholog for FANCF:
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 FANCF Gene

Gene Tree for FANCF (if available)
Gene Tree for FANCF (if available)

Paralogs for FANCF Gene

(1) SIMAP similar genes for FANCF Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FANCF: view

No data available for Paralogs for FANCF Gene

Variants for FANCF Gene

Sequence variations from dbSNP and Humsavar for FANCF Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs377719 -- 22,622,059(+) ATATG(A/G)TAAGT downstream-variant-500B
rs414664 -- 22,623,266(+) GATTA(C/T)ACAAC utr-variant-3-prime
rs444879 -- 22,622,381(+) AATAC(A/G)TAAGA downstream-variant-500B
rs444923 -- 22,624,054(+) ATATT(C/T)GTATT utr-variant-3-prime
rs450946 -- 22,623,867(+) CCTGC(A/G)CCTGT utr-variant-3-prime

Variation tolerance for FANCF Gene

Residual Variation Intolerance Score: 61.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.31; 41.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FANCF Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FANCF Gene

Disorders for FANCF Gene

MalaCards: The human disease database

(10) MalaCards diseases for FANCF Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group f
  • fanconi anemia complementation group f
fancf-related fanconi anemia
fanconi anemia, complementation group a
  • fanconi's anemia
gnathodiaphyseal dysplasia
  • gdd, osteogenesis imperfecta with unusual skeletal lesions
fanconi anemia, complementation group e
  • faces syndrome
- elite association
Search FANCF in MalaCards View complete list of genes associated with diseases


  • Fanconi anemia complementation group F (FANCF) [MIM:603467]: 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:10615118}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FANCF

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FANCF: view

No data available for Genatlas for FANCF Gene

Publications for FANCF Gene

  1. Cancer epigenomics: implications of DNA methylation in personalized cancer therapy. (PMID: 19236379) Toyota M. … Shinomura Y. (Cancer Sci. 2009) 23 67
  2. Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. (PMID: 19861535) Zhi G. … Kupfer G.M. (Cancer Res. 2009) 23 67
  3. Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. (PMID: 19405097) Ali A.M. … Meetei A.R. (Hum. Mutat. 2009) 23 67
  4. The interferon consensus sequence binding protein (ICSBP/IRF8) activates transcription of the FANCF gene during myeloid differentiation. (PMID: 19801548) Saberwal G. … Eklund E.A. (J. Biol. Chem. 2009) 23 67
  5. Estrogen receptor alpha, BRCA1, and FANCF promoter methylation occur in distinct subsets of sporadic breast cancers. (PMID: 17932744) Wei M. … Olopade O.I. (Breast Cancer Res. Treat. 2008) 23 67

Products for FANCF Gene

Sources for FANCF Gene

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