FTO: Polycystic Ovarian Syndrome Database

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FTO

Gene Information

SNPs

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

FTO

Aliases

ALKBH9, BMIQ14, GDFD

Entrez Gene ID

79068

Gene Name

FTO alpha-ketoglutarate dependent dioxygenase

Chromosomal Location

16q12.2

HGNC ID

HGNC:24678

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 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. [provided by RefSeq, Jul 2011]

RefSeq DNA

NG_012969.1

RefSeq mRNA

NM_001080432.3, NR_156761.1, NM_001363891.1, NM_001363894.1, NM_001363896.1, NM_001363897.1, NM_001363898.1, NM_001363899.1, NM_001363900.1, NM_001363901.1, NM_001363903.1, NM_001363905.1, NM_001363988.1

e!Ensembl

Gene	ENSG00000140718
Transcript	ENST00000636491, ENST00000636218, ENST00000471389, ENST00000637001, ENST00000636992, ENST00000637969, ENST00000637562, ENST00000637845, ENST00000464071, ENST00000563011, ENST00000612285, ENST00000431610, ENST00000460382, ENST00000637062, ENST00000463855, ENST00000268349, ENST00000637049, ENST00000640179
Protein	ENSP00000490047, ENSP00000489641, ENSP00000418823, ENSP00000489936, ENSP00000489886, ENSP00000490516, ENSP00000490426, ENSP00000489638, ENSP00000418424, ENSP00000489714, ENSP00000490300, ENSP00000415636, ENSP00000417422, ENSP00000489904, ENSP00000417843, ENSP00000268349, ENSP00000489891, ENSP00000490980

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs9939609	AGAAGACTTGGACTGGCCTCCAGGCA	G/T	CCCACAAGAGCCTCTGTGCCTGGTG	Intron variant	26032905, 20092643, 20092643, 25498334, 19859840, 18478198, 27264388
rs8050136	AGAAGACTTGGACTGGCCTCCAGGCA	G/T	CCCACAAGAGCCTCTGTGCCTGGTG	Intron variant	25498334
rs9930506	AGAAGACTTGGACTGGCCTCCAGGCA	G/T	CCCACAAGAGCCTCTGTGCCTGGTG	Intron variant	25498334
rs8057044	AGAAGACTTGGACTGGCCTCCAGGCA	G/T	CCCACAAGAGCCTCTGTGCCTGGTG	Intron variant	25498334

Gene Ontology (GO)

Show/Hide all(21 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006307	Biological process	DNA dealkylation involved in DNA repair	IDA	18775698, 20376003
GO:0010883	Biological process	Regulation of lipid storage	IMP	26287746
GO:0035552	Biological process	Oxidative single-stranded DNA demethylation	IDA	18775698, 20376003
GO:0035553	Biological process	Oxidative single-stranded RNA demethylation	IDA	18775698, 22002720, 25452335, 26457839, 28002401, 30197295
GO:0035553	Biological process	Oxidative single-stranded RNA demethylation	IMP	26458103
GO:0042245	Biological process	RNA repair	IDA	18775698
GO:0061157	Biological process	MRNA destabilization	IDA	28002401, 30197295
GO:0070989	Biological process	Oxidative demethylation	IDA	18775698
GO:0080111	Biological process	DNA demethylation	IDA	18775698
GO:0090335	Biological process	Regulation of brown fat cell differentiation	IMP	26287746
GO:0005634	Cellular component	Nucleus	IDA	26458103, 28002401, 30197295
GO:0005634	Cellular component	Nucleus	ISS	17991826
GO:0005737	Cellular component	Cytoplasm	IDA	28002401
GO:0016607	Cellular component	Nuclear speck	IDA	22002720
GO:0008198	Molecular function	Ferrous iron binding	IDA	20376003
GO:0035515	Molecular function	Oxidative RNA demethylase activity	IDA	18775698, 22002720, 28002401, 30197295
GO:0035516	Molecular function	Oxidative DNA demethylase activity	IDA	18775698, 20376003
GO:0043734	Molecular function	DNA-N1-methyladenine dioxygenase activity	IDA	20376003
GO:1990931	Molecular function	RNA N6-methyladenosine dioxygenase activity	IDA	25452335, 26457839, 30197295
GO:1990931	Molecular function	RNA N6-methyladenosine dioxygenase activity	IMP	26458103
GO:1990984	Molecular function	TRNA demethylase activity	IDA	30197295

Protein Information

Protein Name

Alpha-ketoglutarate-dependent dioxygenase FTO, AlkB homolog 9, U6 small nuclear RNA (2`-O-methyladenosine-N(6)-)-demethylase FTO, U6 small nuclear RNA N(6)-methyladenosine-demethylase FTO, fat mass and obesity associated, fat mass and obesity-associated protein, m6A(m)-demethylase FTO, mRNA (2`-O-methyladenosine-N(6)-)-demethylase FTO, mRNA N(6)-methyladenosine demethylase FTO, tRNA N1-methyl adenine demethylase FTO

Function

Refseq Proteins

NP_001073901.1, , NP_001350820.1, NP_001350823.1, NP_001350825.1, NP_001350826.1, NP_001350827.1, NP_001350828.1, NP_001350829.1, NP_001350830.1, NP_001350832.1, NP_001350834.1, NP_001350917.1

UniProt

Q9C0B1

PDB

3LFM, 4CXW, 4CXX, 4CXY, 4IDZ, 4IE0, 4IE4, 4IE5, 4IE6, 4IE7, 4QHO, 4QKN, 4ZS2, 4ZS3, 5DAB, 5F8P, 5ZMD

Pfam

Pfam Accession	Pfam ID
PF12934	FTO_CTD
PF12933	FTO_NTD

Pathways
	Reactome
		Reversal of alkylation damage by DNA dioxygenases

Interactions

STRING	MINT	IntAct
ENSP00000370698	P40189	P40189

View interactions

Associated Diseases

Show/Hide all(10 )

Disease group	Disease Name	References
Blood Disorders
Blood Disorders	Leukopenia	27558924
Cardiovascular Diseases
	Heart Failure	27790247
	Atrial Fibrillation	27790247
	Coronary heart disease	21347282, 27790247
Digestive System Diseases
Digestive System Diseases	Inflammatory Bowel Diseases	27558924
Endocrine System Diseases
	Diabetes Mellitus	17554300, 20581827, 17463248, 17463249, 22693455, 19056611, 26818947, 28869590, 24509480, 22885922, 22158537, 23300278, 21647700, 23104008, 27790247
	PCOS	30910557, 29463151, 19859840
Immune System Diseases
Immune System Diseases	Allergic rhinitis	25085501
Neoplasms
Neoplasms	Breast Cancer	23535733, 23535729, 27117709, 25751625, 29059683
Nervous System Diseases
Nervous System Diseases	Stroke	27790247
Nutritional and Metabolic Diseases
	Obesity	19553259, 19151714, 20421936, 21544081, 22484627, 21706003, 23563609, 18159244, 21935397, 21552555, 23563607, 17496892, 19079260, 21076408, 19079261, 19918250, 25137265
	Metabolic Syndrome X	22399527
Psychiatric/Brain disorders
	Intellectual Disability	19559399, 26378117
	Mental Depression	21502950, 25656382, 23164817
	Mood Disorders	21502950
	Eating Disorders	30822753, 30677719, 28282466
	Obstructive Sleep Apnea	30600310
Respiratory Tract Diseases
Respiratory Tract Diseases	Chronic Obstructive Pulmonary Disease	21037115

References

Show/Hide all(7)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
19859840		Obesity and type 2 diabetes mellitus	FTO variant-rs9939609		Related	Chinese- 215 PCOS and 227 controls	In conclusions, the rs9939609 variant in the FTO gene is associated with PCOS susceptibility in the Chinese population, probably because of its effect on BMI.
19913856		Obesity,type 2 diabetes mellitus,hyperandrogenemia	FTO variant-rs9939609		Related		The demonstrated that variants within the FTO gene influence hyperandrogenemia and anthropometric parameters in women with PCOS, indicating an important role of FTO variants not only in obesity and diabetes but also in hyperandrogenism in women with PCOS.
19625203		Obesity	FTO variant-rs9939609		Related		Variation in the FTO gene modifies weight, adiposity and other measures of obesity and insulin sensitivity in PCOS.
18572014		Obesity and type 2 diabetes mellitus	(SNP) rs1421085 (C/T)	Rotterdam criteria	Related	European-207 PCOS and 100 controls	In logistic regression, this genotype strongly associated with MetS (P<0.0001, OR 3.2, 95% CI 1.8-5.7) and impaired fasting glucose (IFG) with P<0.0007, OR 7.7, 95% CI 2.1-28.6, independently of BMI or age, and to AUC(gluc) during OGTT (P<0.0001, alpha=0.99), indicating an influential role of the FTO gene in the glucose intolerance component of MetS.
18478198		Obesity and type 2 diabetes mellitus	FTO variant rs9939609		Related	UK British/Irish-463 PCOS and 1336 controls	The predominant effect of FTO variants on PCOS susceptibility is probably mediated through adiposity.
23840863		PCOS, Obesity	rs9939609	Rotterdam criteria	Related	741 PCOS and 704 control subjects	Variant rs9939609 in FTO is associated with PCOS in Chinese women, not only in obese PCOS subjects, but also in non-obese cases.
20092643	INSIG2,TCF7L2,MC4R	Obesity and type 2 diabetes mellitus	FTO intron 1 SNP rs9939609		Related		The stronger effect on body weight of the FTO SNP in PCOS might well have implications for the etiology of the disease.

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