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Aliases for FTO Gene

Aliases for FTO Gene

  • Fat Mass And Obesity Associated 2 3 5
  • Fat Mass And Obesity-Associated Protein 3 4
  • AlkB Homolog 9 2 3
  • Alpha-Ketoglutarate-Dependent Dioxygenase 2
  • EC 1.14.11.- 4
  • KIAA1752 4
  • ALKBH9 3
  • BMIQ14 3
  • GDFD 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, Facial Dysmorphism and Growth Retardation, Developmental Delay, Coarse Facies, And Early Death. Among its related pathways are Glucose / Energy Metabolism. 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 (PubMed:18775698, PubMed:20376003). Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:22002720, PubMed:26458103). 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 (PubMed:18775698, PubMed:20376003). In particular, it is involved in the regulation of thermogenesis and the control of adipocyte differentiation into brown or white fat cells (PubMed:26287746).

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

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

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

ENSRs around FTO on UCSC Golden Path with GeneCards custom track

Genomic Location for FTO Gene

Chromosome:
16
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

Genes around FTO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FTO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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 Lys 45, Lys 48, Lys 88, Lys 107, Lys 121, and Lys 211
  • 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 & Families for FTO Gene

Gene Families for FTO Gene

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 :
  • 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.
  • Belongs to the fto family.
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 (PubMed:18775698, PubMed:20376003). Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:22002720, PubMed:26458103). 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 (PubMed:18775698, PubMed:20376003). In particular, it is involved in the regulation of thermogenesis and the control of adipocyte differentiation into brown or white fat cells (PubMed:26287746).

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

Human Phenotype Ontology for FTO Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FTO Gene

MGI Knock Outs for FTO:

Animal Model Products

No data available for Transcription Factor Targets 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 5
cytosol 4
plasma membrane 2
extracellular 1
mitochondrion 1
peroxisome 1

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

Pathways & Interactions for FTO Gene

SuperPathways for FTO Gene

Superpath Contained pathways
1 Glucose / Energy Metabolism
genes like me logo Genes that share pathways with FTO: view

Pathways by source for FTO Gene

1 Cell Signaling Technology pathway for FTO Gene

Gene Ontology (GO) - Biological Process for FTO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001659 temperature homeostasis IEA --
GO:0010883 regulation of lipid storage IEA,IMP 26287746
GO:0040014 regulation of multicellular organism growth IEA --
GO:0070350 regulation of white fat cell proliferation IEA --
GO:0070989 oxidative demethylation IDA 18775698
genes like me logo Genes that share ontologies with FTO: view

No data available for SIGNOR curated interactions for FTO Gene

Drugs & Compounds for FTO Gene

(4) Drugs for FTO Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atenolol Approved Pharma Antagonist 99
Interferon Alfa-2a, Recombinant Approved Pharma 0
Interferon Alfa-2b, Recombinant Approved Pharma 0
Ribavirin Approved Pharma 962
genes like me logo Genes that share compounds with FTO: view

Transcripts for FTO Gene

Unigene Clusters for FTO Gene

Fat mass and obesity associated:
Representative Sequences:

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

Protein differential expression in normal tissues from HIPED for FTO Gene

This gene is overexpressed in Lymph node (7.1) and Retina (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with FTO: view

Protein tissue co-expression partners for FTO Gene

- Elite partner

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia FTO 35
  • 99.41 (n)
  • 99.6 (a)
FTO 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fto 35
  • 84.96 (n)
  • 87.82 (a)
oppossum
(Monodelphis domestica)
Mammalia FTO 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FTO 36
  • 60 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia fto 35
  • 58.91 (n)
  • 55.93 (a)
Str.14878 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.34271 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

FTO_HUMAN-Q9C0B1
Genetic variations at the FTO locus define the body mass index quantitative trait locus 14 (BMIQ14) [MIM:612460]. Variance in body mass index is a susceptibility factor for obesity.

Sequence variations from dbSNP and Humsavar for FTO Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs16952624 - 53,888,926(+) GGAAG(C/T)ACTGT reference, missense
VAR_063252 Growth retardation, developmental delay, and facial dysmorphism (GDFD)
VAR_075468 Growth retardation, developmental delay, and facial dysmorphism (GDFD)
VAR_075469 Growth retardation, developmental delay, and facial dysmorphism (GDFD)
rs3859088 -- 54,018,413(-) tgtat(C/G)tatct 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

Variation tolerance for FTO Gene

Residual Variation Intolerance Score: 72.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.14; 38.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FTO Gene

Human Gene Mutation Database (HGMD)
FTO

Disorders for FTO Gene

MalaCards: The human disease database

(8) MalaCards diseases for FTO Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
growth retardation, developmental delay, facial dysmorphism
  • growth retardation, developmental delay, coarse facies, and early death
growth retardation, developmental delay, coarse facies, and early death
  • growth retardation developmental delay coarse facies early death
overnutrition
lethal polymalformative syndrome, boissel type
obesity
  • obesity, association with
- elite association - COSMIC cancer census association via MalaCards
Search FTO in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FTO_HUMAN
  • Growth retardation, developmental delay, and facial dysmorphism (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, ECO:0000269 PubMed:26378117, ECO:0000269 PubMed:26697951}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269 PubMed:26287746}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A pathogenic intronic FTO variation (rs1421085) disrupts an evolutionarily conserved motif for ARID5B binding. Loss of ARID5B binding results in overexpression of two genes distal to FTO, IRX3 and IRX5. IRX3 and IRX5 overexpression shifts pre-adipocytes differentiation from brown to white fat cells, resulting in increased lipid storage and loss of mitochondrial thermogenesis. {ECO:0000269 PubMed:26287746}.

Relevant External Links for FTO

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

No data available for Genatlas for FTO Gene

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 67
  2. 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
  3. The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase. (PMID: 17991826) Gerken T. … Schofield C.J. (Science 2007) 2 3
  4. FTO genotype and aging: pleiotropic longitudinal effects on adiposity, brain function, impulsivity and diet. (PMID: 24863145) Chuang Y.F. … Thambisetty M. (Mol. Psychiatry 2015) 3
  5. Do genetic risk scores for body mass index predict risk of phobic anxiety? Evidence for a shared genetic risk factor. (PMID: 25065638) Walter S. … Kubzansky L.D. (Psychol Med 2015) 3

Products for FTO Gene

Sources for FTO Gene

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