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

Gene ID: 79068, updated on 9-Dec-2018

Summary

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
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]
Expression
Ubiquitous expression in brain (RPKM 7.3), adrenal (RPKM 4.2) and 25 other tissues See more
Orthologs

Genomic context

See FTO in Genome Data Viewer
Location:
16q12.2
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 VISTA enhancer hs59 Neighboring gene VISTA enhancer hs155 Neighboring gene VISTA enhancer hs157 Neighboring gene VISTA enhancer hs156 Neighboring gene uncharacterized LOC105371271 Neighboring gene FTO intronic transcript 1 Neighboring gene VISTA enhancer hs52 Neighboring gene long intergenic non-protein coding RNA 2169 Neighboring gene iroquois homeobox 3

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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
 
tRNA demethylase activity IDA
Inferred from Direct Assay
more info
PubMed 
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
 
mRNA destabilization IDA
Inferred from Direct Assay
more info
PubMed 
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
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
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 

General protein information

Preferred Names
alpha-ketoglutarate-dependent dioxygenase FTO
Names
AlkB homolog 9
U6 small nuclear RNA (2'-O-methyladenosine-N(6)-)-demethylase FTO
U6 small nuclear RNA N(6)-methyladenosine-demethylase FTO
fat mass and obesity associated
fat mass and obesity-associated protein
m6A(m)-demethylase FTO
mRNA (2'-O-methyladenosine-N(6)-)-demethylase FTO
mRNA N(6)-methyladenosine demethylase FTO
tRNA N1-methyl adenine demethylase FTO
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
XP_024306205.1

NCBI Reference Sequences (RefSeq)

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_001080432.3NP_001073901.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform 3

    See identical proteins and their annotated locations for NP_001073901.1

    Status: REVIEWED

    Source sequence(s)
    AB051539, AC007347, AK096554, BC001284, BC030798, DA324897, U79260
    Consensus CDS
    CCDS32448.1
    UniProtKB/Swiss-Prot
    Q9C0B1
    UniProtKB/TrEMBL
    B3KU60, Q99770
    Related
    ENSP00000418823.1, ENST00000471389.5
    Conserved Domains (2) summary
    pfam12933
    Location:36325
    FTO_NTD; FTO catalytic domain
    pfam12934
    Location:329498
    FTO_CTD; FTO C-terminal domain
  2. NM_001363891.1NP_001350820.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC007347, AC007496, AC007909
    Conserved Domains (2) summary
    pfam12933
    Location:36335
    FTO_NTD; FTO catalytic domain
    pfam12934
    Location:339508
    FTO_CTD; FTO C-terminal domain
  3. NM_001363894.1NP_001350823.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC007347, AC007496, AC007909
  4. NM_001363896.1NP_001350825.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC007347, AC007496, AC007909
  5. NM_001363897.1NP_001350826.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC007347, AC007496, AC007909
  6. NM_001363898.1NP_001350827.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC007347, AC007496, AC007909
  7. NM_001363899.1NP_001350828.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC007347, AC007496, AC007909
    Conserved Domains (2) summary
    pfam12933
    Location:36287
    FTO_NTD; FTO catalytic domain
    pfam12934
    Location:291460
    FTO_CTD; FTO C-terminal domain
  8. NM_001363900.1NP_001350829.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC007347, AC007496, AC007909
  9. NM_001363901.1NP_001350830.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC007347, AC007496, AC007909
  10. NM_001363903.1NP_001350832.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC007347, AC007496, AC007909
  11. NM_001363905.1NP_001350834.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC007347, AC007496, AC007909
    Conserved Domains (2) summary
    pfam12933
    Location:21154
    FTO_NTD; FTO catalytic domain
    pfam12934
    Location:158327
    FTO_CTD; FTO C-terminal domain
  12. NM_001363988.1NP_001350917.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC007347, AC007496, AC007909
    Conserved Domains (2) summary
    pfam12933
    Location:36325
    FTO_NTD; FTO catalytic domain
    pfam12934
    Location:329455
    FTO_CTD; FTO C-terminal domain

RNA

  1. NR_156761.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007347, AC007496, AC007909

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011523313.3XP_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_011523316.3XP_011521618.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X6

    Conserved Domains (2) summary
    pfam12933
    Location:36335
    FTO_NTD; FTO catalytic domain
    pfam12934
    Location:339464
    FTO_CTD; FTO C-terminal domain
  3. XM_011523314.3XP_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
  4. XM_017023654.2XP_016879143.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X2

  5. XM_011523315.3XP_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
  6. XM_017023658.2XP_016879147.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X10

  7. XM_024450437.1XP_024306205.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X9

    Related
    ENSP00000489936.1, ENST00000637001.1
    Conserved Domains (2) summary
    pfam12933
    Location:36325
    FTO_NTD; FTO catalytic domain
    pfam12934
    Location:329454
    FTO_CTD; FTO C-terminal domain
  8. XM_017023656.2XP_016879145.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X7

  9. XM_017023655.2XP_016879144.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X3

    Conserved Domains (2) summary
    pfam12933
    Location:36325
    FTO_NTD; FTO catalytic domain
    pfam12934
    Location:329455
    FTO_CTD; FTO C-terminal domain
  10. XM_017023657.2XP_016879146.1  alpha-ketoglutarate-dependent dioxygenase FTO isoform X8

    UniProtKB/TrEMBL
    A0A1B0GTC5
    Related
    ENSP00000489641.1, ENST00000636218.1

RNA

  1. XR_002957840.1 RNA Sequence

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