Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79068
Gene name Gene Name - the full gene name approved by the HGNC.
FTO alpha-ketoglutarate dependent dioxygenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FTO
Synonyms (NCBI Gene) Gene synonyms aliases
ALKBH9, BMIQ14, GDFD, IFEX9
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q12.2
Summary Summary of gene provided in NCBI Entrez 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 damag
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
CUX1 Unknown 23341774
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610966 24678 ENSG00000140718
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Lethal Polymalformative Syndrome lethal polymalformative syndrome, boissel type rs121918214, rs781028867 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Breast Cancer Postmenopausal breast cancer N/A N/A GWAS
Breast cancer Breast cancer (estrogen-receptor negative), Breast cancer N/A N/A GWAS
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Associations from Text Mining Disease 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