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Aliases for FTO Gene

Aliases for FTO Gene

  • Fat Mass And Obesity Associated 2 3
  • Fat Mass And Obesity-Associated Protein 3 4
  • AlkB Homolog 9 2 3
  • Alpha-Ketoglutarate-Dependent Dioxygenase FTO 3
  • Alpha-Ketoglutarate-Dependent Dioxygenase 2
  • EC 1.14.11.- 4
  • Protein Fto 3
  • KIAA1752 4
  • ALKBH9 3

External Ids for FTO Gene

Previous GeneCards Identifiers for FTO Gene

  • GC16U990090
  • GC16P053475
  • GC16P053516
  • GC16P053622
  • GC16P052295
  • GC16P039624

Summaries for FTO Gene

Entrez Gene Summary for FTO Gene

  • This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]

GeneCards Summary for FTO Gene

FTO (Fat Mass And Obesity Associated) is a Protein Coding gene. Diseases associated with FTO include growth retardation, developmental delay, coarse facies, and early death and spastic quadriplegia. GO annotations related to this gene include ferrous iron binding and oxidative RNA demethylase activity.

UniProtKB/Swiss-Prot for FTO Gene

  • Dioxygenase that repairs alkylated DNA and RNA by oxidative demethylation. Has highest activity towards single-stranded RNA containing 3-methyluracil, followed by single-stranded DNA containing 3-methylthymine. Has low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine. Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes. Has no activity towards 1-methylguanine. Has no detectable activity towards double-stranded DNA. Requires molecular oxygen, alpha-ketoglutarate and iron. Contributes to the regulation of the global metabolic rate, energy expenditure and energy homeostasis. Contributes to the regulation of body size and body fat accumulation.

Gene Wiki entry for FTO Gene

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

Genomics for FTO Gene

Regulatory Elements for FTO Gene

Genomic Location for FTO Gene

Start:
53,703,963 bp from pter
End:
54,121,941 bp from pter
Size:
417,979 bases
Orientation:
Plus strand

Genomic View for FTO Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FTO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FTO Gene

Proteins for FTO Gene

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

    Protein Symbol:
    Q9C0B1-FTO_HUMAN
    Recommended name:
    Alpha-ketoglutarate-dependent dioxygenase FTO
    Protein Accession:
    Q9C0B1
    Secondary Accessions:
    • A2RUH1
    • B2RNS0
    • Q0P676
    • Q7Z785

    Protein attributes for FTO Gene

    Size:
    505 amino acids
    Molecular mass:
    58282 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Note=Binds 1 Fe(2+) ion per subunit.;
    Quaternary structure:
    • Monomer. May also exist as homodimer (By similarity).
    SequenceCaution:
    • Sequence=BAB21843.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FTO Gene

    Alternative splice isoforms for FTO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FTO Gene

Proteomics data for FTO Gene at MOPED

Post-translational modifications for FTO Gene

  • Ubiquitination at Lys45, Lys48, Lys88, Lys107, Lys121, Lys211, and Lys216
  • Modification sites at PhosphoSitePlus

Other Protein References for FTO Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FTO (FTO)

No data available for DME Specific Peptides for FTO Gene

Domains for FTO Gene

Gene Families for FTO Gene

HGNC:
  • ALKB :Alkylation repair homologs

Protein Domains for FTO Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FTO Gene

Graphical View of Domain Structure for InterPro Entry

Q9C0B1

UniProtKB/Swiss-Prot:

FTO_HUMAN :
  • Q9C0B1
Domain:
  • The 3D-structure of the Fe2OG dioxygenase domain is similar to that of the Fe2OG dioxygenase domain found in the bacterial DNA repair dioxygenase alkB and its mammalian orthologs, but sequence similarity is very low. As a consequence, the domain is not detected by protein signature databases.
Family:
  • Belongs to the fto family.
genes like me logo Genes that share domains with FTO: view

Function for FTO Gene

Molecular function for FTO Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: pH dependence: Optimum pH is 5.5-6. {ECO:0000269 PubMed:18775698};
UniProtKB/Swiss-Prot EnzymeRegulation: Activated by ascorbate. Inhibited by N-oxalylglycine, fumarate and succinate (By similarity).
UniProtKB/Swiss-Prot Function: Dioxygenase that repairs alkylated DNA and RNA by oxidative demethylation. Has highest activity towards single-stranded RNA containing 3-methyluracil, followed by single-stranded DNA containing 3-methylthymine. Has low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine. Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes. Has no activity towards 1-methylguanine. Has no detectable activity towards double-stranded DNA. Requires molecular oxygen, alpha-ketoglutarate and iron. Contributes to the regulation of the global metabolic rate, energy expenditure and energy homeostasis. Contributes to the regulation of body size and body fat accumulation.

Enzyme Numbers (IUBMB) for FTO Gene

Gene Ontology (GO) - Molecular Function for FTO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008198 ferrous iron binding IDA 20376003
GO:0035515 oxidative RNA demethylase activity IDA 18775698
GO:0035516 oxidative DNA demethylase activity IDA 18775698
GO:0043734 DNA-N1-methyladenine dioxygenase activity IDA 20376003
genes like me logo Genes that share ontologies with FTO: view
genes like me logo Genes that share phenotypes with FTO: view

Animal Models for FTO Gene

MGI Knock Outs for FTO:

Animal Model Products

CRISPR Products

miRNA for FTO Gene

miRTarBase miRNAs that target FTO

No data available for Transcription Factor Targeting and HOMER Transcription for FTO Gene

Localization for FTO Gene

Subcellular locations from UniProtKB/Swiss-Prot for FTO Gene

Nucleus. Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FTO Gene COMPARTMENTS Subcellular localization image for FTO gene
Compartment Confidence
nucleus 3
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for FTO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS 17991826
GO:0016607 nuclear speck IDA 22002720
genes like me logo Genes that share ontologies with FTO: view

Pathways for FTO Gene

SuperPathways for FTO Gene

No Data Available

Gene Ontology (GO) - Biological Process for FTO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001659 temperature homeostasis IEA --
GO:0006307 DNA dealkylation involved in DNA repair IDA 18775698
GO:0010883 regulation of lipid storage IEA --
GO:0035552 oxidative single-stranded DNA demethylation IDA 18775698
GO:0035553 oxidative single-stranded RNA demethylation IDA 18775698
genes like me logo Genes that share ontologies with FTO: view

No data available for Pathways by source for FTO Gene

Transcripts for FTO Gene

Unigene Clusters for FTO Gene

Fat mass and obesity associated:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FTO

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for FTO

Flow Cytometry Products

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

No ASD Table

Relevant External Links for FTO Gene

GeneLoc Exon Structure for
FTO
ECgene alternative splicing isoforms for
FTO

Expression for FTO Gene

mRNA expression in normal human tissues for FTO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FTO Gene

SOURCE GeneReport for Unigene cluster for FTO Gene Hs.528833

mRNA Expression by UniProt/SwissProt for FTO Gene

Q9C0B1-FTO_HUMAN
Tissue specificity: Ubiquitously expressed, with relatively high expression in adrenal glands and brain; especially in hypothalamus and pituitary.
genes like me logo Genes that share expressions with FTO: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for FTO Gene

Orthologs for FTO Gene

This gene was present in the common ancestor of chordates.

Orthologs for FTO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FTO 35
  • 99.41 (n)
  • 99.6 (a)
FTO 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FTO 35
  • 88.45 (n)
  • 87.72 (a)
FTO 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FTO 35
  • 90.74 (n)
  • 91.47 (a)
FTO 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fto 35
  • 85.56 (n)
  • 87.43 (a)
Fto 16
Fto 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FTO 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FTO 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fto 35
  • 84.96 (n)
  • 87.82 (a)
chicken
(Gallus gallus)
Aves FTO 35
  • 66.2 (n)
  • 59.88 (a)
FTO 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FTO 36
  • 54 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.34271 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fto 35
  • 58.91 (n)
  • 55.93 (a)
Str.14878 35
zebrafish
(Danio rerio)
Actinopterygii fto 35
  • 54.24 (n)
  • 49.7 (a)
fto 36
  • 41 (a)
OneToOne
Species with no ortholog for FTO:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 FTO Gene

ENSEMBL:
Gene Tree for FTO (if available)
TreeFam:
Gene Tree for FTO (if available)

Paralogs for FTO Gene

Pseudogenes.org Pseudogenes for FTO Gene

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

No data available for Paralogs for FTO Gene

Variants for FTO Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for FTO Gene

Q9C0B1-FTO_HUMAN
At least one intronic variation within the gene predisposes to childhood and adult obesity

Sequence variations from dbSNP and Humsavar for FTO Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs697769 -- 54,087,835(+) CAAAG(A/G)AATTG intron-variant
rs697770 -- 54,087,813(+) AGAAA(A/T)TTACA intron-variant
rs697771 -- 54,081,288(-) CTAAT(C/T)GCCTT intron-variant
rs708245 -- 54,097,141(+) GGAAG(A/G)CCTTT intron-variant
rs708246 -- 54,096,816(+) catga(A/C)ctaat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FTO Gene

Variant ID Type Subtype PubMed ID
esv2671392 CNV Deletion 23128226
esv2509795 CNV Deletion 19546169
nsv527247 CNV Loss 19592680
nsv906669 CNV Loss 21882294
esv271058 CNV Insertion 20981092
esv273135 CNV Insertion 20981092
nsv906670 CNV Loss 21882294
esv1018277 CNV Insertion 17803354
nsv906671 CNV Loss 21882294
nsv827654 CNV Loss 20364138
nsv833234 CNV Gain 17160897

Relevant External Links for FTO Gene

HapMap Linkage Disequilibrium report
FTO
Human Gene Mutation Database (HGMD)
FTO

Disorders for FTO Gene

(1) OMIM Diseases for FTO Gene (610966)

UniProtKB/Swiss-Prot

FTO_HUMAN
  • Growth retardation developmental delay coarse facies early death (GDFD) [MIM:612938]: A severe polymalformation syndrome characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits and characteristic facial dysmorphism. In some patients, structural brain malformations, cardiac defects, genital anomalies, and cleft palate are observed. Early death occurs by the age of 3 years. {ECO:0000269 PubMed:19559399}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for FTO Gene

Relevant External Links for FTO

Genetic Association Database (GAD)
FTO
Human Genome Epidemiology (HuGE) Navigator
FTO
genes like me logo Genes that share disorders with FTO: view

Publications for FTO Gene

  1. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. (PMID: 17434869) Frayling T.M. … McCarthy M.I. (Science 2007) 2 3 4 48
  2. Variation in FTO contributes to childhood obesity and severe adult obesity. (PMID: 17496892) Dina C. … Froguel P. (Nat. Genet. 2007) 3 4 48
  3. N6-methyladenosine in nuclear RNA is a major substrate of the obesity-associated FTO. (PMID: 22002720) Jia G. … He C. (Nat. Chem. Biol. 2011) 2 3 4
  4. Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. (PMID: 21706003) KilpelAoinen T.O. … Loos R.J. (Nat. Genet. 2011) 3 48
  5. Examining overweight and obesity as risk factors for common mental disorders using fat mass and obesity-associated (FTO) genotype-instrumented analysis: The Whitehall II Study, 1985-2004. (PMID: 21248310) KivimAoki M. … Batty G.D. (Am. J. Epidemiol. 2011) 3 48

Products for FTO Gene

Sources for FTO Gene

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