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    FTO FTO, alpha-ketoglutarate dependent dioxygenase [ Homo sapiens (human) ]

    Gene ID: 79068, updated on 21-May-2017
    Official Symbol
    FTOprovided by HGNC
    Official Full Name
    FTO, alpha-ketoglutarate dependent dioxygenaseprovided by HGNC
    Primary source
    HGNC:HGNC:24678
    See related
    Ensembl:ENSG00000140718 MIM:610966; Vega:OTTHUMG00000158780
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GDFD; ALKBH9; BMIQ14
    Summary
    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]
    Orthologs
    Location:
    16q12.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (53703963..54114467)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (53737875..54148379)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371269 Neighboring gene RPGRIP1 like Neighboring gene uncharacterized LOC105371271 Neighboring gene FTO intronic transcript 1 Neighboring gene long intergenic non-protein coding RNA 2169 Neighboring gene iroquois homeobox 3

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Body mass index quantitative trait locus 14
    MedGen: C2675914 OMIM: 612460 GeneReviews: Not available
    not available
    Growth retardation, developmental delay, coarse facies, and early death
    MedGen: C2752001 OMIM: 612938 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.
    NHGRI GWA Catalog
    A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
    NHGRI GWA Catalog
    A genome-wide association study on obesity and obesity-related traits.
    NHGRI GWA Catalog
    A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.
    NHGRI GWA Catalog
    A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.
    NHGRI GWA Catalog
    A variant in FTO shows association with melanoma risk not due to BMI.
    NHGRI GWA Catalog
    Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
    NHGRI GWA Catalog
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    NHGRI GWA Catalog
    Common body mass index-associated variants confer risk of extreme obesity.
    NHGRI GWA Catalog
    Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.
    NHGRI GWA Catalog
    Common variants near MC4R are associated with fat mass, weight and risk of obesity.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.
    NHGRI GWA Catalog
    FTO genotype is associated with phenotypic variability of body mass index.
    NHGRI GWA Catalog
    Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
    NHGRI GWA Catalog
    Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.
    NHGRI GWA Catalog
    Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
    NHGRI GWA Catalog
    Genome-wide association analysis of body mass in chronic obstructive pulmonary disease.
    NHGRI GWA Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.
    NHGRI GWA Catalog
    Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
    NHGRI GWA Catalog
    Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.
    NHGRI GWA Catalog
    Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.
    NHGRI GWA Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    NHGRI GWA Catalog
    Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
    NHGRI GWA Catalog
    Genome-wide association study of height-adjusted BMI in childhood identifies functional variant in ADCY3.
    NHGRI GWA Catalog
    Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake.
    NHGRI GWA Catalog
    Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
    NHGRI GWA Catalog
    Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
    NHGRI GWA Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    NHGRI GWA Catalog
    Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
    NHGRI GWA Catalog
    Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
    NHGRI GWA Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
    NHGRI GWA Catalog
    NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.
    NHGRI GWA Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog
    Replication of 13 obesity loci among Singaporean Chinese, Malay and Asian-Indian populations.
    NHGRI GWA Catalog
    Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
    NHGRI GWA Catalog
    Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
    NHGRI GWA Catalog
    Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.
    NHGRI GWA Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    NHGRI GWA Catalog
    Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.
    NHGRI GWA Catalog
    • DNA Damage Reversal, organism-specific biosystem (from REACTOME)
      DNA Damage Reversal, organism-specific biosystemDNA damage can be directly reversed by dealkylation (Mitra and Kaina 1993). Three enzymes play a major role in reparative DNA dealkylation: MGMT, ALKBH2 and ALKBH3. MGMT dealkylates O-6-methylguanine...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • FTO Obesity Variant Mechanism, organism-specific biosystem (from WikiPathways)
      FTO Obesity Variant Mechanism, organism-specific biosystemMechanism underlying the association of FTO locus variants and obesity. The wild type T allele at rs1421085 in the FTO locus comprises a protein-DNA binding motif for ARID5B that represses the transc...
    • Reversal of alkylation damage by DNA dioxygenases, organism-specific biosystem (from REACTOME)
      Reversal of alkylation damage by DNA dioxygenases, organism-specific biosystemDNA in cells is susceptible to different types of cytotoxic and mutagenic damage caused by alkylating agents. These genotoxic chemicals generate major lesions like 1-methyladenine, 3-methyladenine, 3...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC5149, KIAA1752

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-N1-methyladenine dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA N6-methyladenosine dioxygenase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ferrous iron binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidative DNA demethylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidative RNA demethylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidative RNA demethylase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    DNA dealkylation involved in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA dealkylation involved in DNA repair TAS
    Traceable Author Statement
    more info
     
    DNA demethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adipose tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    oxidative demethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidative single-stranded DNA demethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidative single-stranded RNA demethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidative single-stranded RNA demethylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of brown fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of lipid storage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of respiratory system process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of white fat cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    temperature homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Preferred Names
    alpha-ketoglutarate-dependent dioxygenase FTO
    Names
    AlkB homolog 9
    fat mass and obesity associated
    fat mass and obesity-associated protein
    NP_001073901.1
    XP_011521615.1
    XP_011521616.1
    XP_011521617.1
    XP_011521618.1
    XP_016879143.1
    XP_016879144.1
    XP_016879145.1
    XP_016879146.1
    XP_016879147.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012969.1 RefSeqGene

      Range
      5001..415505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080432.2NP_001073901.1  alpha-ketoglutarate-dependent dioxygenase FTO

      See identical proteins and their annotated locations for NP_001073901.1

      Status: REVIEWED

      Source sequence(s)
      AB051539, AK096554, BC001284, BC030798, DA324897, U79260
      Consensus CDS
      CCDS32448.1
      UniProtKB/Swiss-Prot
      Q9C0B1
      UniProtKB/TrEMBL
      B3KU60, Q99770
      Related
      ENSP00000418823.1, OTTHUMP00000213475, ENST00000471389.5, OTTHUMT00000352196
      Conserved Domains (2) summary
      pfam12933
      Location:36325
      FTO_NTD; FTO catalytic domain
      pfam12934
      Location:329498
      FTO_CTD; FTO C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      53703963..54114467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523313.2XP_011521615.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X1

      Conserved Domains (2) summary
      pfam12933
      Location:36335
      FTO_NTD; FTO catalytic domain
      pfam12934
      Location:339508
      FTO_CTD; FTO C-terminal domain
    2. XM_011523316.2XP_011521618.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X6

      Related
      ENSP00000490047.1, OTTHUMP00000281640, ENST00000636491.1, OTTHUMT00000488922
      Conserved Domains (2) summary
      pfam12933
      Location:36335
      FTO_NTD; FTO catalytic domain
      pfam12934
      Location:339464
      FTO_CTD; FTO C-terminal domain
    3. XM_017023656.1XP_016879145.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X7

    4. XM_011523314.2XP_011521616.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X4

      Conserved Domains (2) summary
      pfam12933
      Location:36335
      FTO_NTD; FTO catalytic domain
      pfam12934
      Location:339465
      FTO_CTD; FTO C-terminal domain
    5. XM_017023654.1XP_016879143.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X2

    6. XM_017023655.1XP_016879144.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X3

    7. XM_011523315.2XP_011521617.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X5

      Conserved Domains (2) summary
      pfam12933
      Location:36335
      FTO_NTD; FTO catalytic domain
      pfam12934
      Location:339465
      FTO_CTD; FTO C-terminal domain
    8. XM_017023657.1XP_016879146.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X8

      UniProtKB/TrEMBL
      A0A1B0GTC5
      Related
      ENSP00000489641.1, OTTHUMP00000281641, ENST00000636218.1, OTTHUMT00000488923
    9. XM_017023658.1XP_016879147.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X9

    RNA

    1. XR_001751980.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      55145011..55555415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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