FTO (FTO alpha-ketoglutarate dependent dioxygenase)

2010-02-01  

Identity

HGNC
FTO
LOCATION
16q12.2
LOCUSID
79068
ALIAS
ALKBH9,BMIQ14,GDFD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79068
MIM: 610966
HGNC: 24678
Ensembl: ENSG00000140718

Variants:

dbSNP: 79068
ClinVar: 79068
TCGA: ENSG00000140718
COSMIC: FTO

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140718ENST00000268349X6R3I0
ENSG00000140718ENST00000431610Q9C0B1
ENSG00000140718ENST00000460382Q9C0B1
ENSG00000140718ENST00000463855Q9C0B1
ENSG00000140718ENST00000464071F8WCB8
ENSG00000140718ENST00000471389Q9C0B1
ENSG00000140718ENST00000563011A0A1B0GTI3
ENSG00000140718ENST00000612285A0A1B0GUY7
ENSG00000140718ENST00000636218A0A1B0GTC5
ENSG00000140718ENST00000636491A0A1B0GUC3
ENSG00000140718ENST00000636992A0A1B0GTY1
ENSG00000140718ENST00000637001A0A1B0GU26
ENSG00000140718ENST00000637049A0A1B0GTY5
ENSG00000140718ENST00000637062A0A1B0GTZ8
ENSG00000140718ENST00000637562A0A1B0GV98
ENSG00000140718ENST00000637845A0A1B0GTC3
ENSG00000140718ENST00000637969A0A1B0GVH5
ENSG00000140718ENST00000640179F8WCB8

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
DNA RepairREACTOMER-HSA-73894
DNA Damage ReversalREACTOMER-HSA-73942
Reversal of alkylation damage by DNA dioxygenasesREACTOMER-HSA-73943

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406954Weight gainDiseaseMultilinkAnnotationassociated24279860
PA164779048interferon alfa-2a, recombinantChemicalClinicalAnnotationassociatedPD25367448
PA164783990interferon alfa-2b, recombinantChemicalClinicalAnnotationassociatedPD25367448
PA166048887Irritable Bowel SyndromeDiseaseClinicalAnnotationassociatedPD27558924
PA443309AlcoholismDiseaseClinicalAnnotationassociatedPD32451486
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD
PA444773LeukopeniaDiseaseClinicalAnnotationassociatedPD27558924
PA446863Hepatitis C, ChronicDiseaseClinicalAnnotationassociatedPD25367448
PA447230HIVDiseaseClinicalAnnotationassociatedPD25367448
PA448073ethanolChemicalClinicalAnnotationassociatedPD32451486
PA448499atenololChemicalClinicalAnnotationassociatedPD
PA448515azathioprineChemicalClinicalAnnotationassociatedPD27558924
PA450379mercaptopurineChemicalClinicalAnnotationassociatedPD27558924
PA451241ribavirinChemicalClinicalAnnotationassociatedPD25367448

References

Pubmed IDYearTitleCitations
174348692007A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.1362
174348692007A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.1362
174632482007A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.1102
190792612009Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.700
220027202011N6-methyladenosine in nuclear RNA is a major substrate of the obesity-associated FTO.631
176589512007Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.566
176589512007Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.566
190792602009Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.517
174968922007Variation in FTO contributes to childhood obesity and severe adult obesity.481
174968922007Variation in FTO contributes to childhood obesity and severe adult obesity.481

Citation

Dessen P

FTO (FTO alpha-ketoglutarate dependent dioxygenase)

Atlas Genet Cytogenet Oncol Haematol. 2010-02-01

Online version: http://atlasgeneticsoncology.org/gene/51352/fto