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 a... See more...

Aliases for FTO Gene

Aliases for FTO Gene

  • FTO Alpha-Ketoglutarate Dependent Dioxygenase 2 3 5
  • U6 Small Nuclear RNA (2'-O-Methyladenosine-N(6)-)-Demethylase FTO 3 4
  • U6 Small Nuclear RNA N(6)-Methyladenosine-Demethylase FTO 3 4
  • MRNA (2'-O-Methyladenosine-N(6)-)-Demethylase FTO 3 4
  • Alpha-Ketoglutarate-Dependent Dioxygenase FTO 3 4
  • MRNA N(6)-Methyladenosine Demethylase FTO 3 4
  • Fat Mass And Obesity-Associated Protein 3 4
  • TRNA N1-Methyl Adenine Demethylase FTO 3 4
  • Fat Mass And Obesity Associated 2 3
  • M6A(M)-Demethylase FTO 3 4
  • AlkB Homolog 9 2 3
  • FTO, Alpha-Ketoglutarate Dependent Dioxygenase 2
  • Alpha-Ketoglutarate-Dependent Dioxygenase 2
  • EC 1.14.11.53 4
  • 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 (FTO Alpha-Ketoglutarate Dependent Dioxygenase) is a Protein Coding gene. Diseases associated with FTO include Growth Retardation, Developmental Delay, And Facial Dysmorphism and Body Mass Index Quantitative Trait Locus 14. Among its related pathways are DNA Double-Strand Break Repair and DNA Damage Reversal. Gene Ontology (GO) annotations related to this gene include ferrous iron binding and oxidative RNA demethylase activity.

UniProtKB/Swiss-Prot Summary for FTO Gene

  • RNA demethylase that mediates oxidative demethylation of different RNA species, such as mRNAs, tRNAs and snRNAs, and acts as a regulator of fat mass, adipogenesis and energy homeostasis (PubMed:22002720, PubMed:26458103, PubMed:28002401, PubMed:30197295, PubMed:26457839, PubMed:25452335). Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:22002720, PubMed:26458103, PubMed:30197295, PubMed:26457839, PubMed:25452335). M6A demethylation by FTO affects mRNA expression and stability (PubMed:30197295). Also able to demethylate m6A in U6 small nuclear RNA (snRNA) (PubMed:30197295). Mediates demethylation of N(6),2'-O-dimethyladenosine cap (m6A(m)), by demethylating the N(6)-methyladenosine at the second transcribed position of mRNAs and U6 snRNA (PubMed:28002401, PubMed:30197295). Demethylation of m6A(m) in the 5'-cap by FTO affects mRNA stability by promoting susceptibility to decapping (PubMed:28002401). Also acts as a tRNA demethylase by removing N(1)-methyladenine from various tRNAs (PubMed:30197295). Has no activity towards 1-methylguanine (PubMed:20376003). Has no detectable activity towards double-stranded DNA (PubMed:20376003). Also able to repair alkylated DNA and RNA by oxidative demethylation: demethylates single-stranded RNA containing 3-methyluracil, single-stranded DNA containing 3-methylthymine and has low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine (PubMed:18775698, PubMed:20376003). Ability to repair alkylated DNA and RNA is however unsure in vivo (PubMed:18775698, PubMed:20376003). Involved in the regulation of fat mass, adipogenesis and body weight, thereby contributing to the regulation of body size and body fat accumulation (PubMed:18775698, PubMed:20376003). Involved in the regulation of thermogenesis and the control of adipocyte differentiation into brown or white fat cells (PubMed:26287746). Regulates activity of the dopaminergic midbrain circuitry via its ability to demethylate m6A in mRNAs (By similarity). Plays an oncogenic role in a number of acute myeloid leukemias by enhancing leukemic oncogene-mediated cell transformation: acts by mediating m6A demethylation of target transcripts such as MYC, CEBPA, ASB2 and RARA, leading to promote their expression (PubMed:28017614, PubMed:29249359).

Gene Wiki entry for FTO Gene

Additional gene information for FTO Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FTO Gene

Genomics for FTO Gene

GeneHancer (GH) Regulatory Elements for FTO Gene

Promoters and enhancers for FTO 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
GH16J053703 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +2.5 2509 2.8 SIN3A ZBTB40 SIX5 RBPJ POLR2A ATF1 CREB1 HCFC1 MYC NFYC RPGRIP1L FTO RBL2 CHD9 lnc-RBL2-5
GH16J053765 Enhancer 1.5 VISTA Ensembl ENCODE dbSUPER 10.9 +72.9 72939 17.9 SIN3A CTCF FOXA1 MLX RBPJ TCF7L2 USF2 NR2F1 NR2F6 CREB1 CHD9 FTO RPGRIP1L lnc-RPGRIP1L-2 piR-39858-250
GH16J053755 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +54.9 54909 4 FOXA1 NR2F6 CREB1 HLF SP1 CEBPG SP7 PPARG HNF1A PKNOX1 RPGRIP1L FTO RBL2 lnc-RPGRIP1L-2 piR-39858-250
GH16J053743 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.6 +43.6 43561 4.3 CTCF MLX USF2 NFYC RAD21 BCL6B ELF3 TRIM24 KAT8 ZNF644 lnc-RBL2-5 lnc-RPGRIP1L-2 RPGRIP1L RBL2 FTO CHD9
GH16J053611 Enhancer 0.8 Ensembl 11.2 -90.1 -90091 0.4 FOXK2 CTBP1 ZNF133 L3MBTL2 ZNF121 BCL6B SP7 PKNOX1 ZBTB8A ZSCAN4 FTO RPGRIP1L CHD9 RBL2 piR-50308-238 piR-47675-047
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FTO on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FTO gene promoter:
  • aMEF-2
  • Egr-1
  • FOXD3
  • FOXO1
  • FOXO1a
  • MEF-2A
  • NF-AT
  • NF-AT1
  • NF-AT2
  • S8

Genomic Locations for FTO Gene

Genomic Locations for FTO Gene
chr16:53,701,692-54,158,512
(GRCh38/hg38)
Size:
456,821 bases
Orientation:
Plus strand
chr16:53,737,875-54,155,853
(GRCh37/hg19)
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 (By similarity). 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

Post-translational modifications for FTO Gene

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

Antibody Products

  • Abcam antibodies for FTO
  • Boster Bio Antibodies for FTO

No data available for DME Specific Peptides for FTO Gene

Domains & Families for FTO Gene

Gene Families for FTO Gene

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

Protein Domains for FTO Gene

Suggested Antigen Peptide Sequences for FTO Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61116 (B4DHN4_HUMAN)
  • Fat mass and obesity-associated protein (FTO_HUMAN)

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 Function:
RNA demethylase that mediates oxidative demethylation of different RNA species, such as mRNAs, tRNAs and snRNAs, and acts as a regulator of fat mass, adipogenesis and energy homeostasis (PubMed:22002720, PubMed:26458103, PubMed:28002401, PubMed:30197295, PubMed:26457839, PubMed:25452335). Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:22002720, PubMed:26458103, PubMed:30197295, PubMed:26457839, PubMed:25452335). M6A demethylation by FTO affects mRNA expression and stability (PubMed:30197295). Also able to demethylate m6A in U6 small nuclear RNA (snRNA) (PubMed:30197295). Mediates demethylation of N(6),2'-O-dimethyladenosine cap (m6A(m)), by demethylating the N(6)-methyladenosine at the second transcribed position of mRNAs and U6 snRNA (PubMed:28002401, PubMed:30197295). Demethylation of m6A(m) in the 5'-cap by FTO affects mRNA stability by promoting susceptibility to decapping (PubMed:28002401). Also acts as a tRNA demethylase by removing N(1)-methyladenine from various tRNAs (PubMed:30197295). Has no activity towards 1-methylguanine (PubMed:20376003). Has no detectable activity towards double-stranded DNA (PubMed:20376003). Also able to repair alkylated DNA and RNA by oxidative demethylation: demethylates single-stranded RNA containing 3-methyluracil, single-stranded DNA containing 3-methylthymine and has low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine (PubMed:18775698, PubMed:20376003). Ability to repair alkylated DNA and RNA is however unsure in vivo (PubMed:18775698, PubMed:20376003). Involved in the regulation of fat mass, adipogenesis and body weight, thereby contributing to the regulation of body size and body fat accumulation (PubMed:18775698, PubMed:20376003). Involved in the regulation of thermogenesis and the control of adipocyte differentiation into brown or white fat cells (PubMed:26287746). Regulates activity of the dopaminergic midbrain circuitry via its ability to demethylate m6A in mRNAs (By similarity). Plays an oncogenic role in a number of acute myeloid leukemias by enhancing leukemic oncogene-mediated cell transformation: acts by mediating m6A demethylation of target transcripts such as MYC, CEBPA, ASB2 and RARA, leading to promote their expression (PubMed:28017614, PubMed:29249359).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + a 5'-(N(7)-methyl 5'-triphosphoguanosine)-(N(7),2'-O-dimethyladenosine 5'-phosphate) in mRNA + O2 = a 5'-(N(7)-methyl 5'-triphosphoguanosine)-(2'-O-methyladenosine 5'-phosphate) in mRNA + CO2 + formaldehyde + succinate; Xref=Rhea:RHEA:57896, Rhea:RHEA-COMP:11518, Rhea:RHEA-COMP:11519, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:30031, ChEBI:CHEBI:85958, ChEBI:CHEBI:85959; Evidence={ECO:0000269 PubMed:28002401, ECO:0000269 PubMed:30197295};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + N(6)-methyladenosine in mRNA + O2 = adenosine in mRNA + CO2 + formaldehyde + succinate; Xref=Rhea:RHEA:49520, Rhea:RHEA-COMP:12414, Rhea:RHEA-COMP:12417, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:30031, ChEBI:CHEBI:74411, ChEBI:CHEBI:74449; EC=1.14.11.53; Evidence={ECO:0000269 PubMed:25452335, ECO:0000269 PubMed:26457839, ECO:0000269 PubMed:30197295, ECO:0000305 PubMed:22002720};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + N(6)-methyladenosine in U6 snRNA + O2 = adenosine in U6 snRNA + CO2 + formaldehyde + succinate; Xref=Rhea:RHEA:57900, Rhea:RHEA-COMP:13573, Rhea:RHEA-COMP:13574, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:30031, ChEBI:CHEBI:74411, ChEBI:CHEBI:74449; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + a 5'-(N(7)-methyl 5'-triphosphoguanosine)-(N(7),2'-O-dimethyladenosine 5'-phosphate) in U6 snRNA + O2 = a 5'-(N(7)-methyl 5'-triphosphoguanosine)-(2'-O-methyladenosine 5'-phosphate) in U6 snRNA + CO2 + formaldehyde + succinate; Xref=Rhea:RHEA:57904, Rhea:RHEA-COMP:15030, Rhea:RHEA-COMP:15031, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:30031, ChEBI:CHEBI:85958, ChEBI:CHEBI:85959; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + an N(1)-methyladenosine in tRNA + O2 = an adenosine in tRNA + CO2 + formaldehyde + succinate; Xref=Rhea:RHEA:54576, Rhea:RHEA-COMP:10242, Rhea:RHEA-COMP:12312, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:30031, ChEBI:CHEBI:74411, ChEBI:CHEBI:74491; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by ascorbate (By similarity). Inhibited by N-oxalylglycine, fumarate and succinate (By similarity). RNA N(6)-methyladenosine demethylase activity is inhibited by fluorescein derivatives (PubMed:26457839). RNA N(6)-methyladenosine demethylase activity is selectively inhibited by meclofenamic acid; inhibition is specific to FTO and meclofenamic acid does not inhibit ALKBH5 (PubMed:25452335). Specifically inhibited by R-2-hydroxyglutarate (R-2HG), an oncometabolite that also exerts a broad antileukemic activity (PubMed:29249359). Inhibition by R-2HG leads to increased level of N(6)-methyladenosine-containing transcripts, leading to down-regulate expression of MYC and CEBPA transcripts (PubMed:29249359).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.34 uM for m(7)Gppp(m6A(m))CA mRNA {ECO:0000269 PubMed:28002401}; KM=16.09 uM for m(7)Gppp(m6ACA mRNA {ECO:0000269 PubMed:28002401}; KM=9.29 uM for GG(m6A)CU mRNA {ECO:0000269 PubMed:28002401}; KM=6.4 uM for m(7)GpppAC(m6) mRNA {ECO:0000269 PubMed:28002401}; Note=Kcat is 8.78 min(-1) for m(7)Gppp(m6A(m))CA mRNA. Kcat is 7.77 min(-1) for m(7)Gppp(m6A)CA mRNA. Kcat is 0.54 min(-1) for GG(m6A)CU mRNA. Kcat is 0.46 min(-1) for m(7)GpppAC(m6) mRNA. {ECO:0000269 PubMed:28002401}; pH dependence: Optimum pH is 5.5-6. {ECO:0000269 PubMed:18775698};

Enzyme Numbers (IUBMB) for FTO Gene

Phenotypes From GWAS Catalog 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:0016491 oxidoreductase activity IEA --
GO:0016740 transferase activity IEA --
GO:0035515 oxidative RNA demethylase activity IDA,IEA 18775698
GO:0035516 oxidative DNA demethylase activity IDA,IEA 18775698
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:
  • Fto Fto<tm1.2Pzg>
  • Fto Fto<tm1a(EUCOMM)Wtsi>
  • Fto Fto<tm1.3Pzg>
  • Fto Fto<tm1.2Rdc>
  • Fto Fto<tm1Urt>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for FTO

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. Cytoplasm. Note=Localizes mainly in the nucleus, where it is able to demethylate N(6)-methyladenosine (m6A) and N(6),2'-O-dimethyladenosine cap (m6A(m)) in U6 small nuclear RNA (snRNA), N(1)-methyladenine from tRNAs and internal m6A in mRNAs (PubMed:30197295). In the cytoplasm, mediates demethylation of m6A and m6A(m) in mRNAs and N(1)-methyladenine from tRNAs (PubMed:30197295). {ECO:0000269 PubMed:30197295}.

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 FTO gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FTO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,ISS 17991826
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 28002401
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FTO: view

Pathways & Interactions for FTO Gene

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

Pathways by source for FTO Gene

1 BioSystems pathway 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:0006307 DNA dealkylation involved in DNA repair IEA,TAS --
GO:0010883 regulation of lipid storage IMP 26287746
GO:0035552 oxidative single-stranded DNA demethylation IDA,IEA 18775698
GO:0035553 oxidative single-stranded RNA demethylation IEA,IMP 26458103
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

(7) Drugs for FTO Gene - From: DrugBank and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atenolol Approved Pharma Antagonist 111
Azathioprine Approved Pharma 212
Interferon Alfa-2a, Recombinant Approved, Investigational Pharma 0
Mercaptopurine Approved Pharma 226
Ribavirin Approved Pharma 1048
genes like me logo Genes that share compounds with FTO: view

Transcripts for FTO Gene

CRISPR Products

Clone Products

  • Addgene plasmids for FTO

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FTO Gene



Protein tissue co-expression partners for FTO Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FTO Gene:

FTO

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 (PubMed:17434869, PubMed:17496892). Highly expressed in highly expressed in acute myeloid leukemias (AML) with t(11;11)(q23;23) with KMT2A/MLL1 rearrangements, t(15;17)(q21;q21)/PML-RARA, FLT3-ITD, and/or NPM1 mutations (PubMed:28017614).

Evidence on tissue expression from TISSUES for FTO Gene

  • Nervous system(4.9)
  • Eye(4.3)
  • Lung(4.3)
  • Blood(2.7)
  • Muscle(2.4)
  • Liver(2.3)
  • Pancreas(2.2)
  • Skin(2.2)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FTO Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • ear
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • skin
  • spinal column
genes like me logo Genes that share expression patterns with FTO: view

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 33 32
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FTO 33 32
  • 90.74 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FTO 33 32
  • 88.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fto 17 33 32
  • 85.56 (n)
rat
(Rattus norvegicus)
Mammalia Fto 32
  • 84.96 (n)
oppossum
(Monodelphis domestica)
Mammalia FTO 33
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FTO 33
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves FTO 33 32
  • 66.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FTO 33
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fto 32
  • 58.91 (n)
Str.14878 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.34271 32
zebrafish
(Danio rerio)
Actinopterygii fto 33 32
  • 54.24 (n)
OneToOne
Species where no ortholog for FTO was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FTO: view image

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 Variation AA Info Type
rs113662449 likely-benign, Growth retardation, developmental delay, coarse facies, and early death 54,114,249(+) G/A/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs114255834 likely-benign, Growth retardation, developmental delay, coarse facies, and early death 54,114,357(+) A/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs114521424 likely-benign, Growth retardation, developmental delay, coarse facies, and early death 54,112,986(+) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs116372569 likely-benign, Growth retardation, developmental delay, coarse facies, and early death 54,112,846(+) C/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs116753298 uncertain-significance, Growth retardation, developmental delay, coarse facies, and early death 53,810,193(+) C/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv1018277 CNV insertion 17803354
esv2509795 CNV deletion 19546169
esv2671392 CNV deletion 23128226
esv3438845 CNV insertion 20981092
esv3582205 CNV loss 25503493
esv3638657 CNV loss 21293372
esv3638658 CNV loss 21293372
esv3638659 CNV loss 21293372
esv3892861 CNV loss 25118596
nsv1060747 CNV loss 25217958
nsv1060949 CNV loss 25217958
nsv1111140 CNV tandem duplication 24896259
nsv1141292 CNV duplication 24896259
nsv527247 CNV loss 19592680
nsv572619 CNV loss 21841781
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)

Additional Variant Information for FTO Gene

Human Gene Mutation Database (HGMD)
FTO
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FTO

SNP Genotyping and Copy Number Assay Products

Disorders for FTO Gene

MalaCards: The human disease database

(6) MalaCards diseases for FTO Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

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:22002720, 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:24646999, ECO:0000269 PubMed:26287746}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. It is unclear whether variations associated with obesity directly affect FTO function or alter the expression of adjacent genes such as IRX3, rather than FTO itself (PubMed:24646999, PubMed:26287746). A pathogenic intronic FTO variation (rs1421085) disrupts an evolutionarily conserved motif for ARID5B binding (PubMed:26287746). 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 (PubMed:26287746). {ECO:0000269 PubMed:24646999, ECO:0000269 PubMed:26287746}.

Additional Disease Information for FTO

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 TM … McCarthy MI (Science (New York, N.Y.) 2007) 2 3 4 43 56
  2. N6-methyladenosine in nuclear RNA is a major substrate of the obesity-associated FTO. (PMID: 22002720) Jia G … He C (Nature chemical biology 2011) 2 3 4 56
  3. Variation in FTO contributes to childhood obesity and severe adult obesity. (PMID: 17496892) Dina C … Froguel P (Nature genetics 2007) 3 4 43 56
  4. Differential m6A, m6Am, and m1A Demethylation Mediated by FTO in the Cell Nucleus and Cytoplasm. (PMID: 30197295) Wei J … He C (Molecular cell 2018) 3 4 56
  5. Reversible methylation of m6Am in the 5' cap controls mRNA stability. (PMID: 28002401) Mauer J … Jaffrey SR (Nature 2017) 3 4 56

Products for FTO Gene

Sources for FTO Gene