Gene Gene information from NCBI Gene database.
Entrez ID 79068
Gene name FTO alpha-ketoglutarate dependent dioxygenase
Gene symbol FTO
Synonyms (NCBI Gene)
ALKBH9BMIQ14GDFDIFEX9
Chromosome 16
Chromosome location 16q12.2
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 damag
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs1421085 T>C Risk-factor Intron variant
rs121918214 G>A Pathogenic Genic downstream transcript variant, intron variant, coding sequence variant, missense variant, non coding transcript variant
rs781028867 C>A,T Pathogenic Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs1410999299 A>G Likely-pathogenic 5 prime UTR variant, intron variant, missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
584
miRTarBase ID miRNA Experiments Reference
MIRT052254 hsa-let-7b-5p CLASH 23622248
MIRT703462 hsa-miR-4695-5p HITS-CLIP 23313552
MIRT703461 hsa-miR-4779 HITS-CLIP 23313552
MIRT703460 hsa-miR-4768-3p HITS-CLIP 23313552
MIRT703459 hsa-miR-8060 HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
CUX1 Unknown 23341774
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0001659 Process Temperature homeostasis IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 26458103, 28002401, 30197295
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610966 24678 ENSG00000140718
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9C0B1
Protein name Alpha-ketoglutarate-dependent dioxygenase FTO (Fat mass and obesity-associated protein) (U6 small nuclear RNA (2'-O-methyladenosine-N(6)-)-demethylase FTO) (EC 1.14.11.-) (U6 small nuclear RNA N(6)-methyladenosine-demethylase FTO) (EC 1.14.11.-) (mRNA (2'
Protein 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:25452335, PubMed:26457839, PubMed:
PDB 3LFM , 4CXW , 4CXX , 4CXY , 4IDZ , 4IE0 , 4IE4 , 4IE5 , 4IE6 , 4IE7 , 4QHO , 4QKN , 4ZS2 , 4ZS3 , 5DAB , 5F8P , 5ZMD , 6AEJ , 6AK4 , 6AKW , 7CKK , 7E8Z , 7WCV , 8IT9 , 9KNI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12933 FTO_NTD 36 325 FTO catalytic domain Domain
PF12934 FTO_CTD 329 498 FTO C-terminal domain Domain
Tissue specificity 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) wit
Sequence
Sequence length 505
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Reversal of alkylation damage by DNA dioxygenases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
134
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Body mass index quantitative trait locus 14 Likely pathogenic rs2078991144 RCV003990737
Lethal polymalformative syndrome, Boissel type Likely pathogenic; Pathogenic rs121918214, rs781028867 RCV000001110
RCV000190415
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs113575052 RCV005913750
FTO-related disorder Likely benign; Conflicting classifications of pathogenicity rs752080961, rs144743617 RCV003903999
RCV003983247
Meniere disease Uncertain significance rs139577103, rs550932456, rs757468268 RCV004571969
RCV004571435
RCV004574909
OBESITY (BMIQ14), SUSCEPTIBILITY TO risk factor rs1421085 RCV000201907
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 22504289, 31167208, 31810473
Abortion Habitual Associate 25845303
Acromegaly Associate 28913579, 37446150
Acute Coronary Syndrome Associate 26740239
Adenoma Associate 21317302
Adrenocortical Carcinoma Associate 33725886
Age Related Hearing Impairment 1 Associate 37891192
Alcoholism Associate 25265168, 26458734, 27905213
Alzheimer Disease Associate 23251365
Amyotrophic lateral sclerosis 1 Associate 29216901