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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
113
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Body mass index quantitative trait locus 14 Likely pathogenic rs2078991144 RCV003990737
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lethal polymalformative syndrome, Boissel type Likely pathogenic; Pathogenic rs121918214, rs781028867 RCV000001110
RCV000190415
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE DISEASE 2 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 28913579
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly Pubtator 28913579, 37446150 Associate
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 20362563
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 22153534
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 21317302
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 33725886 Associate
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis GWASCAT_DG 25085501
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 23251365 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Pubtator 29216901 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis BEFREE 29216901
★☆☆☆☆
Found in Text Mining only