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Aliases for FANCF Gene

Aliases for FANCF Gene

  • Fanconi Anemia Complementation Group F 2 3 5
  • Fanconi Anemia, Complementation Group F 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 fanconi anemia, complementation group a. Among its related pathways are Fanconi anemia pathway 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

Enhancers for FANCF 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 FANCF on UCSC Golden Path with GeneCards custom track

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

ENSRs around FANCF on UCSC Golden Path with GeneCards custom track

Genomic Location for FANCF Gene

Chromosome:
11
Start:
22,622,519 bp from pter
End:
22,626,787 bp from pter
Size:
4,269 bases
Orientation:
Minus strand

Genomic View for FANCF Gene

Genes around FANCF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FANCF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FANCF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANCF Gene

Proteins for FANCF Gene

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

    Protein Symbol:
    Q9NPI8-FANCF_HUMAN
    Recommended name:
    Fanconi anemia group F protein
    Protein Accession:
    Q9NPI8
    Secondary Accessions:
    • Q52LM0

    Protein attributes for FANCF Gene

    Size:
    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:

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

InterPro:
ProtoNet:

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 --
genes like me logo Genes that share ontologies with FANCF: view
genes like me logo Genes that share phenotypes with FANCF: view

Human Phenotype Ontology for FANCF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

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

COMPARTMENTS
Jensen Localization Image for FANCF Gene COMPARTMENTS Subcellular localization image for FANCF gene
Compartment Confidence
nucleus 5
cytosol 1
extracellular 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for FANCF Gene

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:0007283 spermatogenesis IEA --
GO:0008150 biological_process ND --
GO:0016567 protein ubiquitination IEA --
GO:0036297 interstrand cross-link repair TAS --
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
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
FANCF
ECgene alternative splicing isoforms for
FANCF

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

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
cow
(Bos Taurus)
Mammalia FANCF 35
  • 80.62 (n)
  • 74.16 (a)
FANCF 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fancf 35
  • 61.11 (n)
  • 53.27 (a)
Fancf 16
Fancf 36
  • 52 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FANCF 35
  • 99.2 (n)
  • 98.4 (a)
FANCF 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fancf 35
  • 60.87 (n)
  • 56.05 (a)
dog
(Canis familiaris)
Mammalia FANCF 36
  • 50 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FANCF 36
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves FANCF 35
  • 53.12 (n)
  • 42.11 (a)
FANCF 36
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FANCF 36
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fancf 35
  • 43 (n)
  • 28.7 (a)
zebrafish
(Danio rerio)
Actinopterygii fancf 35
  • 43.48 (n)
  • 31.37 (a)
fancf 36
  • 29 (a)
OneToOne
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

ENSEMBL:
Gene Tree for FANCF (if available)
TreeFam:
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
rs45451294 - 22,624,852(-) TCCAC(C/T)TCTGA reference, missense
rs7103293 - 22,624,928(+) TCCAA(C/T)CCAAA reference, missense
rs11601411 -- 22,624,338(+) AATAA(A/C)CCATA utr-variant-3-prime
rs61752917 -- 22,624,757(+) AGCTA(A/G)TAAGA reference, synonymous-codon
rs61889392 -- 22,623,978(+) AGAGC(A/G)AGACT utr-variant-3-prime

Variation tolerance for FANCF Gene

Residual Variation Intolerance Score: 61.1% 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
FANCF
Human Gene Mutation Database (HGMD)
FANCF

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

(8) 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
fanconi anemia, complementation group a
  • fanconi's anemia
fancf-related fanconi anemia
fanconi anemia, complementation group e
  • faces syndrome
gnathodiaphyseal dysplasia
  • levin syndrome 2
- elite association - COSMIC cancer census association via MalaCards
Search FANCF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

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

No data available for Genatlas for FANCF Gene

Publications for FANCF Gene

  1. Structural determinants of human FANCF protein that function in the assembly of a DNA damage signaling complex. (PMID: 17082180) Kowal P. … Ellenberger T. (J. Biol. Chem. 2007) 3 4 23 67
  2. 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) 3 23
  3. 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) 3 23
  4. Promoter hypermethylation of FANCF plays an important role in the occurrence of ovarian cancer through disrupting Fanconi anemia-BRCA pathway. (PMID: 16418574) Wang Z. … Wang H. (Cancer Biol. Ther. 2006) 3 23
  5. 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

Products for FANCF Gene

Sources for FANCF Gene

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