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 FANCF Gene

Aliases for FANCF Gene

  • FA Complementation Group F 2 3 5
  • Fanconi Anemia Complementation Group F 2 3
  • Fanconi Anemia Group F Protein 3 4
  • FAF 2 3
  • Protein FACF 4
  • FANCF 5

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 (FA 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 DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity.

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

Genomics for FANCF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FANCF 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
GH11J022624 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 259.7 +0.8 812 3.6 BCLAF1 SP1 ZNF600 MYC KLF9 POLR2A CEBPA ZIC2 YY1 MXD4 FANCF GAS2 HSALNG0083148 lnc-SLC17A6-3 HSALNG0083144 SLC17A6
GH11J022634 Enhancer 1.2 Ensembl ENCODE dbSUPER 8.8 -9.5 -9496 1.8 CEBPA NFIC MXD4 HOMEZ KMT2B THAP11 FOXA2 KDM6A SMAD4 SAP130 FANCF GAS2 lnc-SLC17A6-3 piR-37026-086 SVIP
GH11J022701 Enhancer 1.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas 1.9 -77.1 -77062 2.8 ZNF600 JUND ATF2 CEBPA ZNF10 ATF3 HOMEZ FOXA2 SAP130 TEAD3 GAS2 FANCF SLC17A6 piR-39858-083 RF00001-056 MF281437-015 RNA5SP338 SVIP
GH11J022558 Enhancer 0.3 Ensembl 8 +66.9 66931 0.6 CHD2 HSALNG0083144 FANCF HSALNG0083142 HSALNG0083143 GAS2 SLC17A6
GH11J023555 Enhancer 0.4 Ensembl ENCODE 4.1 -929.8 -929781 2.4 CTCF FANCF piR-60246-032 piR-31937-031 CCDC179 LUZP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the FANCF gene promoter:
  • E2F
  • E2F-1
  • E47
  • Elk-1
  • FOXO4
  • GATA-3
  • HFH-1
  • Pax-5
  • Tal-1beta

Genomic Locations for FANCF Gene

Latest Assembly
chr11:22,622,533-22,625,823
(GRCh38/hg38)
Size:
3,291 bases
Orientation:
Minus strand

Previous Assembly
chr11:22,644,079-22,647,369
(GRCh37/hg19 by Entrez Gene)
Size:
3,291 bases
Orientation:
Minus strand

chr11:22,644,079-22,647,387
(GRCh37/hg19 by Ensembl)
Size:
3,309 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

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

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

Protein Domains for FANCF Gene

InterPro:

Suggested Antigen Peptide Sequences for FANCF Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ10854 fis, clone NT2RP4001507, highly similar to Fanconi anemia group F protein (A3KME0_HUMAN)
  • Fanconi anemia group F protein (FANCF_HUMAN)
genes like me logo Genes that share domains with FANCF: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FANCF Gene

Function for FANCF Gene

Molecular function for FANCF Gene

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).
GENATLAS Biochemistry:
putative RNA binding protein,highly homolog to the prokaryotic RNA-binding protein ROM,intronless

Phenotypes From GWAS Catalog for FANCF Gene

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
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 Models for FANCF Gene

MGI Knock Outs for FANCF:

Inhibitory RNAs for research

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

No data available for Enzyme Numbers (IUBMB) , 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
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 FANCF gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FANCF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0043240 Fanconi anaemia nuclear complex IBA,IDA 20347428
genes like me logo Genes that share ontologies with FANCF: view

Pathways & Interactions for FANCF Gene

PathCards logo

SuperPathways for FANCF 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 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
3 Qiagen pathways for FANCF Gene
  • BRCA1 Pathway
  • DNA Repair Mechanisms
  • Fanconi's Anaemia Pathway

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:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IBA 21873635
GO:0008150 biological_process ND --
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 :
13 NCBI additional mRNA sequence :
1 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 FANCF

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

No ASD Table

Relevant External Links for FANCF Gene

GeneLoc Exon Structure for
FANCF

Expression for FANCF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for FANCF Gene



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

SOURCE GeneReport for Unigene cluster for FANCF Gene:

Hs.632151

Evidence on tissue expression from TISSUES for FANCF Gene

  • Nervous system(4.7)
  • Skin(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FANCF 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 FANCF: 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 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
Chimpanzee
(Pan troglodytes)
Mammalia FANCF 29 30
  • 99.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FANCF 29 30
  • 80.62 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fancf 29 16 30
  • 61.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fancf 29
  • 60.87 (n)
Dog
(Canis familiaris)
Mammalia FANCF 30
  • 50 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FANCF 30
  • 42 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FANCF 29 30
  • 53.12 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FANCF 30
  • 42 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fancf 29
  • 43 (n)
Zebrafish
(Danio rerio)
Actinopterygii fancf 29 30
  • 43.48 (n)
OneToOne
Species where no ortholog for FANCF 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 FANCF Gene

ENSEMBL:
Gene Tree for FANCF (if available)
TreeFam:
Gene Tree for FANCF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FANCF: view image
Alliance of Genome Resources:
Additional Orthologs for FANCF

Paralogs for FANCF Gene

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

  • FANCF_HUMAN
  • A3KME0_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FANCF Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1001623 Uncertain Significance: Fanconi anemia 22,625,728(-) G/C
NM_022725.4(FANCF):c.83C>G (p.Pro28Arg)
MISSENSE
1001967 Uncertain Significance: Fanconi anemia 22,624,990(-) T/G
NM_022725.4(FANCF):c.821A>C (p.Tyr274Ser)
MISSENSE
1002405 Uncertain Significance: Fanconi anemia 22,625,378(-) T/C
NM_022725.4(FANCF):c.433A>G (p.Met145Val)
MISSENSE
1007553 Uncertain Significance: Fanconi anemia 22,625,194(-) G/A
NM_022725.4(FANCF):c.617C>T (p.Ala206Val)
MISSENSE
1011535 Uncertain Significance: Fanconi anemia 22,625,128(-) T/C
NM_022725.4(FANCF):c.683A>G (p.Lys228Arg)
MISSENSE

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

Variant ID Type Subtype PubMed ID
nsv1046773 CNV loss 25217958

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)

Additional Variant Information for FANCF Gene

Human Gene Mutation Database (HGMD)
FANCF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FANCF
Leiden Open Variation Database (LOVD)
FANCF

SNP Genotyping and Copy Number Assays for research

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

Disorders for FANCF Gene

MalaCards: The human disease database

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

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 variants affecting the gene represented in this entry.

Additional Disease Information for FANCF

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 FANCF: view

No data available for Genatlas for FANCF Gene

Publications for FANCF Gene

  1. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (PMID: 10615118) de Winter JP … Joenje H (Nature genetics 2000) 3 4 22 72
  2. Structural determinants of human FANCF protein that function in the assembly of a DNA damage signaling complex. (PMID: 17082180) Kowal P … Ellenberger T (The Journal of biological chemistry 2007) 3 4 22
  3. The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. (PMID: 11063725) de Winter JP … Joenje H (Human molecular genetics 2000) 3 4 22
  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. The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. (PMID: 19536649) Barroso E … Ribas G (Breast cancer research and treatment 2009) 3 40

Products for FANCF Gene

Sources for FANCF Gene