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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FTO Gene

protein-coding   GIFtS: 56
GCID: GC16P053737

Fat Mass And Obesity Associated

Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Fat Mass And Obesity Associated1 2     Alpha-Ketoglutarate-Dependent Dioxygenase FTO2
AlkB Homolog 91 2     Protein Fto2
Fat Mass And Obesity-Associated Protein2 3     EC 1.14.11.-3
Alpha-Ketoglutarate-Dependent Dioxygenase1     KIAA17523
ALKBH92     

External Ids:    HGNC: 246781   Entrez Gene: 790682   Ensembl: ENSG000001407187   OMIM: 6109665   UniProtKB: Q9C0B13   

Export aliases for FTO gene to outside databases

Previous GC identifers: GC16U990090 GC16P053475 GC16P053516 GC16P053622 GC16P052295 GC16P039624


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FTO Gene:
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)

GeneCards Summary for FTO Gene: 
FTO (fat mass and obesity associated) is a protein-coding gene. Diseases associated with FTO include obesity, association with, and growth retardation, developmental delay, coarse facies, and early death. GO annotations related to this gene include oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen and DNA-N1-methyladenine dioxygenase activity.

UniProtKB/Swiss-Prot: FTO_HUMAN, Q9C0B1
Function: Dioxygenase that repairs alkylated DNA and RNA by oxidative demethylation. Has highest activity towards
single-stranded RNA containing 3-methyluracil, followed by single-stranded DNA containing 3-methylthymine. Has
low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine. Has no
activity towards 1-methylguanine. Has no detectable activity towards double-stranded DNA. Requires molecular
oxygen, alpha-ketoglutarate and iron. Contributes to the regulation of the global metabolic rate, energy
expenditure and energy homeostasis. Contributes to the regulation of body size and body fat accumulation

Gene Wiki entry for FTO (FTO gene) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FTO gene promoter:
         Egr-1   FOXD3   NF-AT   MEF-2A   S8   NF-AT2   FOXO1a   aMEF-2   NF-AT1   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FTO

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FTO


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q12.2   Ensembl cytogenetic band:  16q12.2   HGNC cytogenetic band: 16q12.2

FTO Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FTO gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P053737:  view genomic region     (about GC identifiers)

Start:
53,737,875 bp from pter      End:
54,155,853 bp from pter
Size:
417,979 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FTO_HUMAN, Q9C0B1 (See protein sequence)
Recommended Name: Alpha-ketoglutarate-dependent dioxygenase FTO  
Size: 505 amino acids; 58282 Da
Cofactor: Binds 1 Fe(2+) ion per subunit
Subunit: Monomer. May also exist as homodimer (By similarity)
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=BAB21843.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
6/7 PDB 3D structures from and Proteopedia for FTO (see all 7):
3LFM (3D)        4IDZ (3D)        4IE0 (3D)        4IE4 (3D)        4IE5 (3D)        4IE6 (3D)    
Secondary accessions: A2RUH1 B2RNS0 Q0P676 Q7Z785
Alternative splicing: 4 isoforms:  Q9C0B1-1   Q9C0B1-2   Q9C0B1-3   Q9C0B1-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FTO: NX_Q9C0B1

Explore proteomics data for FTO at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9C0B1

  • FTO Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FTO Protein Expression
    REFSEQ proteins: NP_001073901.1  
    ENSEMBL proteins: 
     ENSP00000418823   ENSP00000418424   ENSP00000415636   ENSP00000417422   ENSP00000417843  
     ENSP00000268349   ENSP00000378142  

    Human Recombinant Protein Products for FTO: 
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    Enzo Life Sciences proteins for FTO
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    OriGene Protein Over-expression Lysate for FTO
    OriGene MassSpec for FTO 
    OriGene Custom Protein Services for FTO
    GenScript Custom Purified and Recombinant Proteins Services for FTO
    Novus Biologicals FTO Proteins
    Novus Biologicals FTO Lysate
    Sino Biological Recombinant Protein for FTO
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FTO 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS17991826

    FTO for ontologies           About GeneDecksing



    FTO Antibody Products: 
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    Abcam antibodies for FTO
    Cloud-Clone Corp. Antibodies for FTO 
    ThermoFisher Antibodies for FTO
    LSBio Antibodies in human, mouse, rat for FTO 

    Assay Products for FTO: 
    Browse Kits and Assays available from EMD Millipore
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    Enzo Life Sciences assays for FTO
    Cloud-Clone Corp. ELISAs for FTO 
    Cloud-Clone Corp. CLIAs for FTO


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ALKB: Alkylation repair homologs

    2 InterPro protein domains:
     IPR024366 FTO_C
     IPR024367 FTO_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q9C0B1

    ProtoNet protein and cluster: Q9C0B1

    UniProtKB/Swiss-Prot: FTO_HUMAN, Q9C0B1
    Domain: The 3D-structure of the Fe2OG dioxygenase domain is similar to that of the Fe2OG dioxygenase domain found
    in the bacterial DNA repair dioxygenase alkB and its mammalian orthologs, but sequence similarity is very low. As
    a consequence, the domain is not detected by protein signature databases
    Similarity: Belongs to the fto family


    FTO for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FTO_HUMAN, Q9C0B1
    Function: Dioxygenase that repairs alkylated DNA and RNA by oxidative demethylation. Has highest activity towards
    single-stranded RNA containing 3-methyluracil, followed by single-stranded DNA containing 3-methylthymine. Has
    low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine. Has no
    activity towards 1-methylguanine. Has no detectable activity towards double-stranded DNA. Requires molecular
    oxygen, alpha-ketoglutarate and iron. Contributes to the regulation of the global metabolic rate, energy
    expenditure and energy homeostasis. Contributes to the regulation of body size and body fat accumulation
    Enzyme regulation: Activated by ascorbate. Inhibited by N-oxalylglycine, fumarate and succinate (By similarity)
    Biophysicochemical properties: pH dependence: Optimum pH is 5.5-6;

         Enzyme Number (IUBMB): EC 1.14.11.-1

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008198ferrous iron binding IDA--
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ----
    GO:0035515oxidative RNA demethylase activity IDA18775698
    GO:0035516oxidative DNA demethylase activity IDA18775698
    GO:0043734DNA-N1-methyladenine dioxygenase activity IDA--
         
    FTO for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Fto):
     adipose tissue  behavior/neurological  growth/size  homeostasis/metabolism  immune system 
     integument  mortality/aging  renal/urinary system  skeleton 

    FTO for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FTO: Ftotm1Urt Ftotm1.2Pzg Ftotm1.2Rdc Ftotm1.3Pzg

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FTO 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FTO

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FTO 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FTO 

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate FTO:
    hsa-miR-146a* hsa-miR-593 hsa-miR-130b* hsa-miR-3915 hsa-miR-150 hsa-miR-384
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FTO

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of FTO

    Clone
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    GenScript: all cDNA clones in your preferred vector: FTO (NM_001080432)
    Sino Biological Human cDNA Clone for FTO
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FTO
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FTO
    Sirion Biotech Customized lentivirus for stable overexpression of FTO 
                         Customized lentivirus expression plasmids for stable overexpression of FTO 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FTO


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FTO

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for FTO (Q9C0B13 ENSP000004188234) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLX4Q8IY923, ENSP000002940084I2D: score=1 STRING: ENSP00000294008
    UBCENSP000003448184STRING: ENSP00000344818
    --Q6FG913I2D: score=1 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001659temperature homeostasis IEA--
    GO:0006307DNA dealkylation involved in DNA repair IDA18775698
    GO:0010883regulation of lipid storage IEA--
    GO:0035552oxidative single-stranded DNA demethylation IDA18775698
    GO:0035553oxidative single-stranded RNA demethylation IDA18775698

    FTO for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FTO

    Search CenterWatch for drugs/clinical trials and news about FTO

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FTO gene: 
    NM_001080432.2  

    Unigene Cluster for FTO:

    Fat mass and obesity associated
    Hs.528833  [show with all ESTs]
    Unigene Representative Sequence: NM_001080432
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471389(uc002ehr.3 uc010vha.2 uc010cbz.3 uc002ehs.3)
    ENST00000570395 ENST00000464071 ENST00000431610 ENST00000460382 ENST00000463855
    ENST00000268349 ENST00000472835 ENST00000394647

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FTO
    6 QIAGEN miScript miRNA Assays for microRNAs that regulate FTO:
    hsa-miR-146a* hsa-miR-593 hsa-miR-130b* hsa-miR-3915 hsa-miR-150 hsa-miR-384
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for FTO
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FTO
    Clone
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    GenScript: all cDNA clones in your preferred vector: FTO (NM_001080432)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FTO
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FTO
    Sirion Biotech Customized lentivirus for stable overexpression of FTO 
                         Customized lentivirus expression plasmids for stable overexpression of FTO 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FTO
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FTO

    Additional mRNA sequence: 

    AB051539.1 AK096554.1 AK295196.1 BC001284.1 BC003583.1 BC030798.1 BC132892.1 BC137091.1 
    U79260.1 

    7 DOTS entries:

    DT.92421723  DT.99980614  DT.451627  DT.97839626  DT.120723834  DT.95259693  DT.100647408 

    24/102 AceView cDNA sequences (see all 102):

    AL709243 CB960336 BQ949757 AA599311 BU170586 AI278722 BC001284 CR594763 
    BF513960 BF437240 F10991 F13404 AI394660 BX406351 CB112503 BC030798 
    AI659161 BQ426064 AI745667 Z39140 AW292058 AI282038 BQ721767 AI620894 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FTO expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGTGCTCT
    FTO Expression
    About this image


    See FTO Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FTO

    SOURCE GeneReport for Unigene cluster: Hs.528833

    UniProtKB/Swiss-Prot: FTO_HUMAN, Q9C0B1
    Tissue specificity: Ubiquitously expressed, with relatively high expression in adrenal glands and brain;
    especially in hypothalamus and pituitary

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FTO

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for FTO gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fto1 , 5 fat mass and obesity associated1, 5 85.56(n)1
    87.43(a)1
      8 (44.34 cM)5
    263831  NM_011936.21  NP_036066.21 
     913135325 
    chicken
    (Gallus gallus)
    Aves FTO1 fat mass and obesity associated 66.26(n)
    60(a)
      415718  NM_001185147.1  NP_001172076.1 
    lizard
    (Anolis carolinensis)
    Reptilia FTO6
    Uncharacterized protein
    55(a)
    1 ↔ 1
    LGc(623981-889335)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.342712 Xenopus laevis transcribed sequences 78.23(n)    CF288914.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fto1 fat mass and obesity associated 54.68(n)
    50.51(a)
      553363  XM_001345874.3  XP_001345910.3 


    ENSEMBL Gene Tree for FTO (if available)
    TreeFam Gene Tree for FTO (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FTO gene

    FTO for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FTO
    PGOHUM00000240025


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: FTO_HUMAN, Q9C0B1
    Polymorphism: At least one intronic variation within the gene predisposes to childhood and adult obesity


    10/8054 SNPs in FTO are shown (see all 8054)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0632524
    Growth retardation developmental delay coarse facies early death (GDFD)4--see VAR_0632522 R Q mis40--------
    rs358144191,2
    C--39625757(+) CCCAC-/TTTTTT 1 -- int11Minor allele frequency- T:0.00CSA 2
    rs345220721,2
    C--39643572(+) ACCTC-/AAAAAA 1 -- int10--------
    rs1461203171,2
    C--39646919(+) TAAAC-/AG/GA 
            
    ACTCT
    1 -- int10--------
    rs106808021,2
    C--39646920(+) AAACA-/AG/GA 
            
    CTCTA
    1 -- int11CSA 2
    rs71971101,2
    C--39652792(+) tttttA/Tttttt 1 -- int1 trp32Minor allele frequency- T:0.00NA CSA 3
    rs58169031,2
    C--39659945(+) Attac-/TATT  
            
    tattt
    1 -- int10--------
    rs347555341,2
    C--39665577(+) CCCCC-/TCATAT 1 -- int10--------
    rs113544361,2
    C--39679652(+) AAAAA-/AGTTGT 1 -- int10--------
    rs717191811,2
    C--39680996(+) TGTGT-/G/GTGTGTGTG
    TGTGTGTGTGTGTG
    TGTGT
    1 -- int10--------

    HapMap Linkage Disequilibrium report for FTO (53737875 - 53987875 bp, first 250kb of FTO)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for FTO (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2509795CNV Deletion19546169
    esv2671392CNV Deletion23128226
    esv273135CNV Insertion20981092
    esv1018277CNV Insertion17803354
    esv271058CNV Insertion20981092
    nsv827654CNV Loss20364138
    nsv906671CNV Loss21882294
    nsv527247CNV Loss19592680
    nsv906669CNV Loss21882294
    nsv906670CNV Loss21882294


    Human Gene Mutation Database (HGMD): FTO
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610966   
    OMIM disorders: 612938  
    UniProtKB/Swiss-Prot: FTO_HUMAN, Q9C0B1
  • Growth retardation developmental delay coarse facies early death (GDFD) [MIM:612938]: A severe
    polymalformation syndrome characterized by postnatal growth retardation, microcephaly, severe psychomotor delay,
    functional brain deficits and characteristic facial dysmorphism. In some patients, structural brain
    malformations, cardiac defects, genital anomalies, and cleft palate are observed. Early death occurs by the age
    of 3 years. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/31 diseases for FTO (see all 31):    About MalaCards
    obesity, association with    growth retardation, developmental delay, coarse facies, and early death    overnutrition    obesity
    brain malformations    mental disorders    morbid obesity    gestational diabetes
    polycystic ovary syndrome    microcephaly    cleft palate    alcohol dependence
    anorexia nervosa    cataract    hyperglycemia    alcoholism
    insulin resistance    diabetes mellitus    type 1 diabetes    myocardial infarction

    2 diseases from the University of Copenhagen DISEASES database for FTO:
    Diabetes mellitus     Morbid obesity

    FTO for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): FTO
    Human Genome Epidemiology (HuGE) Navigator: FTO (256 documents)

    Export disorders for FTO gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FTO gene, integrated from 9 sources (see all 409):
    (articles sorted by number of sources associating them with FTO)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. (PubMed id 17434869)1, 2, 3, 4 Frayling T.M.... McCarthy M.I. (2007)
    2. Variation in FTO contributes to childhood obesity and severe adult obesity. (PubMed id 17496892)1, 2, 4 Dina C.... Froguel P. (2007)
    3. Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations. (PubMed id 22344221)1, 4 Okada Y....Tanaka T. (2012)
    4. Genome-wide screen for metabolic syndrome susceptibili ty Loci reveals strong lipid gene contribution but no evidence for common geneti c basis for clustering of metabolic syndrome traits. (PubMed id 22399527)1, 4 Kristiansson K....Salomaa V. (2012)
    5. Replication of 13 obesity loci among Singaporean Chin ese, Malay and Asian-Indian populations. (PubMed id 21544081)1, 4 Dorajoo R....Tai E.S. (2011)
    6. Genetic variation near IRS1 associates with reduced a diposity and an impaired metabolic profile. (PubMed id 21706003)1, 4 KilpelAoinen T.O....Loos R.J. (2011)
    7. Examining overweight and obesity as risk factors for common mental disorders using fat mass and obesity-associated (FTO) genotype-in strumented analysis: The Whitehall II Study, 1985-2004. (PubMed id 21248310)1, 4 KivimAoki M....Batty G.D. (2011)
    8. N6-methyladenosine in nuclear RNA is a major substrat e of the obesity-associated FTO. (PubMed id 22002720)1, 3 Jia G....He C. (2011)
    9. A genome-wide association study on obesity and obesit y-related traits. (PubMed id 21552555)1, 4 Wang K....Price R.A. (2011)
    10. Genetic susceptibility to obesity and related traits in childhood and adolescence: influence of loci identified by genome-wide assoc iation studies. (PubMed id 20724581)1, 4 den Hoed M....Loos R.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79068 HGNC: 24678 AceView: FTO Ensembl:ENSG00000140718 euGenes: HUgn79068
    ECgene: FTO H-InvDB: FTO

    (According to HUGE)
    About This Section
    HUGE: KIAA1752

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FTO Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FTO gene:
    Search GeneIP for patents involving FTO

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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