FTO Alpha-Ketoglutarate-Dependent Dioxygenase

Alternative Names

  • FTO
  • Fat Mass-and-Obesity-Associated Gene
  • Fatso, Mouse, Homolog of
  • AlkB Homolog 9
  • ALKBH9
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OMIM Number

610966

NCBI Gene ID

79068

Uniprot ID

Q9C0B1

Length

456,821 bases

No. of Exons

16

No. of isoforms

4

Protein Name

Alpha-ketoglutarate-dependent dioxygenase FTO

Molecular Mass

58282 Da

Amino Acid Count

505

Genomic Location

chr16:53,701,692-54,158,512

Gene Map Locus
16q12.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001080432.2:c.46-12906C>TUnited Arab EmiratesNC_000016.10:g.53797234C>TNG_012969.1:g.98272C>T; NM_001080432.2:c.46-12906C>T; NP_001073901.1:p.?9922708
NM_001080432.2:c.46-18564C>TUnited Arab EmiratesNC_000016.10:g.53791576C>TObesityNG_012969.1:g.92614C>T; NM_001080432.2:c.46-18564C>T; NP_001073901.1:p.?9941349
NM_001080432.2:c.46-25592G>TUnited Arab EmiratesNC_000016.10:g.53784548G>TAssociationObesityNG_012969.1:g.85586G>T; NM_001080432.2:c.46-25592G>T; NP_001073901.1:p.?3751812
NM_001080432.2:c.46-27777C>ALebanon; United Arab E...NC_000016.10:g.53782363C>AAssociation, BenignType 2 Diabetes MellitusNG_012969.1:g.83401C>A; NM_001080432.2:c.46-27777C>A; NP_001073901.1:p.?8050136
NM_001080432.2:c.46-30685T>GLebanonNC_000016.10:g.53779455T>GBenignNG_012969.1:g.80493T>G; NM_001080432.2:c.46-30685T>G; NP_001073901.1:p.?17817449
NM_001080432.2:c.46-34805G>AUnited Arab EmiratesNC_000016.10:g.53775335G>ANG_012969.1:g.76373G>A; NM_001080432.2:c.46-34805G>A; NP_001073901.1:p.?1121980
NM_001080432.2:c.46-34805G>TLebanonNC_000016.10:g.53775335G>TBenignNG_012969.1:g.76373G>T; NM_001080432.2:c.46-34805G>T; NP_001073901.1:p.?1121980
NM_001080432.2:c.46-43098T>CUnited Arab EmiratesNC_000016.10:g.53767042T>CRisk factorAssociationType 2 Diabetes Mellitus; ObesityNG_012969.1:g.68080T>C; NM_001080432.2:c.46-43098T>C; NP_001073901.1:p.?1421085217824
NM_001080432.2:c.46-43484G>AUnited Arab EmiratesNC_000016.10:g.53766656G>ANG_012969.1:g.67694G>A; NM_001080432.2:c.46-43484G>A; NP_001073901.1:p.?9939973
NM_001363894.1:c.46-13587A>GUnited Arab EmiratesNC_000016.10:g.53796553A>GUncertain SignificanceNG_012969.1:g.97591A>G; NM_001363894.1:c.46-13587A>G; NP_001350823.1:p.?9930506
NM_001363894.1:c.46-23525=United Arab EmiratesNC_000016.10:g.53786615=Uncertain SignificanceNG_012969.1:g.87653=; NM_001363894.1:c.46-23525=; NP_001350823.1:p.?9939609
NM_001363894.1:c.46-23525T>AUnited Arab EmiratesNC_000016.10:g.53786615T>AAssociationObesityNG_012969.1:g.87653T>A; NM_001363894.1:c.46-23525T>A; NP_001350823.1:p.?9939609
NM_001363894.1:c.46-40478T>ALebanonchr16:53769662Likely BenignNG_012969.1:g.70700T>A; NM_001363894.1:c.46-40478T>A1558902
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