FTO Alpha-Ketoglutarate-Dependent Dioxygenase

Alternative Names

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

Length

456,821 bases

No. of Exons

No. of isoforms

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

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001080432.2:c.46-12906C>T	United Arab Emirates	NC_000016.10:g.53797234C>T				NG_012969.1:g.98272C>T; NM_001080432.2:c.46-12906C>T; NP_001073901.1:p.?	9922708
NM_001080432.2:c.46-18564C>T	United Arab Emirates	NC_000016.10:g.53791576C>T			Obesity	NG_012969.1:g.92614C>T; NM_001080432.2:c.46-18564C>T; NP_001073901.1:p.?	9941349
NM_001080432.2:c.46-25592G>T	United Arab Emirates	NC_000016.10:g.53784548G>T		Association	Obesity	NG_012969.1:g.85586G>T; NM_001080432.2:c.46-25592G>T; NP_001073901.1:p.?	3751812
NM_001080432.2:c.46-27777C>A	Lebanon; United Arab E...	NC_000016.10:g.53782363C>A		Association, Benign	Type 2 Diabetes Mellitus	NG_012969.1:g.83401C>A; NM_001080432.2:c.46-27777C>A; NP_001073901.1:p.?	8050136
NM_001080432.2:c.46-30685T>G	Lebanon	NC_000016.10:g.53779455T>G		Benign		NG_012969.1:g.80493T>G; NM_001080432.2:c.46-30685T>G; NP_001073901.1:p.?	17817449
NM_001080432.2:c.46-34805G>A	United Arab Emirates	NC_000016.10:g.53775335G>A				NG_012969.1:g.76373G>A; NM_001080432.2:c.46-34805G>A; NP_001073901.1:p.?	1121980
NM_001080432.2:c.46-34805G>T	Lebanon	NC_000016.10:g.53775335G>T		Benign		NG_012969.1:g.76373G>T; NM_001080432.2:c.46-34805G>T; NP_001073901.1:p.?	1121980
NM_001080432.2:c.46-43098T>C	United Arab Emirates	NC_000016.10:g.53767042T>C	Risk factor	Association	Type 2 Diabetes Mellitus; Obesity	NG_012969.1:g.68080T>C; NM_001080432.2:c.46-43098T>C; NP_001073901.1:p.?	1421085	217824
NM_001080432.2:c.46-43484G>A	United Arab Emirates	NC_000016.10:g.53766656G>A				NG_012969.1:g.67694G>A; NM_001080432.2:c.46-43484G>A; NP_001073901.1:p.?	9939973
NM_001363894.1:c.46-13587A>G	United Arab Emirates	NC_000016.10:g.53796553A>G		Uncertain Significance		NG_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 Emirates	NC_000016.10:g.53786615=		Uncertain Significance		NG_012969.1:g.87653=; NM_001363894.1:c.46-23525=; NP_001350823.1:p.?	9939609
NM_001363894.1:c.46-23525T>A	United Arab Emirates	NC_000016.10:g.53786615T>A		Association	Obesity	NG_012969.1:g.87653T>A; NM_001363894.1:c.46-23525T>A; NP_001350823.1:p.?	9939609
NM_001363894.1:c.46-40478T>A	Lebanon	chr16:53769662		Likely Benign		NG_012969.1:g.70700T>A; NM_001363894.1:c.46-40478T>A	1558902

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=FTO https://www.ncbi.nlm.nih.gov/gene/79068

Contributors

Pratibha Nair: 01.04.2022
Pratibha Nair: 07.03.2022
Sami Bizzari: 08.02.2022
Asha Deepthi: 26.08.2021
Asha Deepthi: 04.08.2021
Asha Deepthi: 15.07.2021
Asha Deepthi: 11.07.2021
Asha Deepthi: 15.04.2021
Pratibha Nair: 07.10.2020

Edit History

Pratibha Nair: 01.04.2022
Pratibha Nair: 07.03.2022
Sami Bizzari: 08.02.2022
Asha Deepthi: 26.08.2021
Asha Deepthi: 04.08.2021
Asha Deepthi: 15.07.2021
Asha Deepthi: 11.07.2021
Asha Deepthi: 15.04.2021
Pratibha Nair: 07.10.2020

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