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TET2 Gene

protein-coding   GIFtS: 56
GCID: GC04P106067

Tet Methylcytosine Dioxygenase 2

(Previous names: KIAA1546, tet oncogene family member 2)
(Previous symbol: KIAA1546)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tet Methylcytosine Dioxygenase 21 2     MDS2 5
KIAA15461 2 3 5     Methylcytosine Dioxygenase TET22
Tet Oncogene Family Member 21 2     Probable Methylcytosine Dioxygenase TET22
EC 1.14.11.n23 8     

External Ids:    HGNC: 259411   Entrez Gene: 547902   Ensembl: ENSG000001687697   OMIM: 6128395   UniProtKB: Q6N0213   

Export aliases for TET2 gene to outside databases

Previous GC identifers: GC04P106287 GC04P101803


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TET2 Gene:
The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine
to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been
associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Mar 2011)

GeneCards Summary for TET2 Gene:
TET2 (tet methylcytosine dioxygenase 2) is a protein-coding gene. Diseases associated with TET2 include refractory anemia, and acute myeloid leukemia with multilineage dysplasia. GO annotations related to this gene include methylcytosine dioxygenase activity. An important paralog of this gene is TET1.

UniProtKB/Swiss-Prot: TET2_HUMAN, Q6N021
Function: Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into
5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for
5-hydroxymethylcytosine in CpG motifs. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC),
and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably
constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an
epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. In
addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to
CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TET2 gene promoter:
         Sox5   Egr-4   Meis-1b   Evi-1   HEN1   FOXJ2 (long isoform)   FOXJ2   Meis-1a   Pax-4a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TET2 promoter sequence
   Search Chromatin IP Primers for TET2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TET2


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

Entrez Gene cytogenetic band: 4q24   Ensembl cytogenetic band:  4q24   HGNC cytogenetic band: 4q24

TET2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TET2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P106067:  view genomic region     (about GC identifiers)

Start:
106,067,032 bp from pter      End:
106,200,973 bp from pter
Size:
133,942 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TET2_HUMAN, Q6N021 (See protein sequence)
Recommended Name: Methylcytosine dioxygenase TET2  
Size: 2002 amino acids; 223811 Da
Cofactor: Binds 1 Fe(2+) ion per subunit (PubMed:24315485)
Cofactor: Binds 3 zinc ions per subunit. The zinc ions have a structural role (PubMed:24315485)
Subunit: Interacts with HCFC1 and OGT
Caution: Subsequent steps in cytosine demethylation are subject to discussion. According to a first model cytosine
demethylation occurs through deamination of 5hmC into 5-hydroxymethyluracil (5hmU) and subsequent replacement by
unmethylated cytosine by the base excision repair system. According to another model, cytosine demethylation is
rather mediated via conversion of 5hmC into 5fC and 5caC, followed by excision by TDG (PubMed:21817016)
Sequence caution: Sequence=BAA90898.1; Type=Erroneous termination; Positions=325; Note=Translated as Gln;
Sequence=BAA90898.1; Type=Frameshift; Positions=323; Sequence=BAA90898.1; Type=Miscellaneous discrepancy;
Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAB55391.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for TET2:
4NM6 (3D)    
Secondary accessions: B5MDU0 Q2TB88 Q3LIB8 Q96JX5 Q9HCM6 Q9NXW0
Alternative splicing: 3 isoforms:  Q6N021-1   Q6N021-2   Q6N021-3   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for TET2: NX_Q6N021

Explore proteomics data for TET2 at MOPED

Post-translational modifications: 

  • May be glycosylated. It is unclear whether interaction with OGT leads to GlcNAcylation. According to a report, it
    is not GlcNAcylated by OGT (PubMed:23353889). In contrast, another group reports GlcNAcylation by OGT in mouse
    ortholog1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TET2 (Q6N021) (see all 5)
     SLVFYQHK  YTHLGAGP  GCPIAKWV  EGRPFSGVT 


    See TET2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001120680.1  NP_060098.3  

    ENSEMBL proteins: 
     ENSP00000306705   ENSP00000425443   ENSP00000369351   ENSP00000265149   ENSP00000391448  
     ENSP00000426885   ENSP00000442788   ENSP00000442867   ENSP00000378245  
    Reactome Protein details: Q6N021

    TET2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TET2

    TET2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TET2
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    Novus Biologicals TET2 Antibody
    Abcam antibodies for TET2
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    LSBio Antibodies in human, mouse, rat for TET2

    TET2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for TET2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR024779 2OGFeDO_nucleic_acid_mod

    Graphical View of Domain Structure for InterPro Entry Q6N021

    ProtoNet protein and cluster: Q6N021

    UniProtKB/Swiss-Prot: TET2_HUMAN, Q6N021
    Similarity: Belongs to the TET family


    TET2 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TET2_HUMAN, Q6N021
    Function: Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into
    5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for
    5-hydroxymethylcytosine in CpG motifs. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC),
    and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably
    constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an
    epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. In
    addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to
    CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT
    Catalytic activity: DNA 5-methylcytosine + 2-oxoglutarate + O(2) = DNA 5-hydroxymethylcytosine + succinate + CO(2)

         Enzyme Number (IUBMB): EC 1.14.11.n21 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI--
    GO:0008198ferrous iron binding IDA--
    GO:0008270zinc ion binding IDA--
    GO:0046872metal ion binding ----
         
    TET2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for TET2:
     Decreased Wnt reporter activit  Increased cell number in G2M,   Increased gamma-H2AX phosphory 

         11 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Tet2):
     cardiovascular system  cellular  growth/size/body  hematopoietic system  immune system 
     liver/biliary system  mortality/aging  no phenotypic analysis  normal  renal/urinary system 
     tumorigenesis 

    TET2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tet2tm1.2Rao for TET2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TET2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TET2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TET2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TET2

    miRNA
    Products:
        
    miRTarBase miRNAs that target TET2:
    hsa-mir-92a-3p (MIRT049648), hsa-mir-335-5p (MIRT016981), hsa-mir-484 (MIRT042185)

    Block miRNA regulation of human, mouse, rat TET2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TET2 (see all 151):
    hsa-miR-124* hsa-miR-100* hsa-miR-3938 hsa-miR-520f hsa-miR-106a hsa-miR-605 hsa-miR-138-2* hsa-miR-520b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TET2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): TET2 (NM_017628)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TET2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TET2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TET2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus2
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1
    peroxisome1
    plasma membrane1

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Pathways by sourceSee SuperPaths
    Show all pathways


    1 Reactome Pathway for TET2
        TET1,2,3 and TDG demethylate DNA



    TET2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TET2
    Interactions:

        Search GeneGlobe Interaction Network for TET2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for TET2 (Q6N0213 ENSP000003693514) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TBC1D4O603433, ENSP000003668634I2D: score=2 STRING: ENSP00000366863
    HNRNPA1L2ENSP000003500904STRING: ENSP00000350090 STRING: ENSP00000341285
    TCF3ENSP000002629654STRING: ENSP00000262965
    YLPM1ENSP000003244634STRING: ENSP00000324463
    RBBP6ENSP000003178724STRING: ENSP00000317872
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IEA--
    GO:00062115-methylcytosine catabolic process IDA--
    GO:0006493protein O-linked glycosylation IMP--
    GO:0007049cell cycle IEA--
    GO:0009791post-embryonic development IEA--

    TET2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TET2



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TET2 gene (2 alternative transcripts): 
    NM_001127208.2  NM_017628.4  

    Unigene Cluster for TET2:

    Tet methylcytosine dioxygenase 2
    Hs.367639  [show with all ESTs]
    Unigene Representative Sequence: BX640738
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000305737(uc021xqk.1) ENST00000513237 ENST00000380013 ENST00000265149(uc003hxj.2)
    ENST00000504042 ENST00000413648 ENST00000505801 ENST00000514870 ENST00000540549(uc003hxk.3 uc011cez.2)
    ENST00000545826 ENST00000394764(uc010ilp.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TET2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TET2 (see all 151):
    hsa-miR-124* hsa-miR-100* hsa-miR-3938 hsa-miR-520f hsa-miR-106a hsa-miR-605 hsa-miR-138-2* hsa-miR-520b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TET2 (NM_017628)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TET2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TET2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TET2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TET2
      QuantiTect SYBR Green Assays in human, mouse, rat TET2
      QuantiFast Probe-based Assays in human, mouse, rat TET2

    Additional mRNA sequence: 

    AK027819.1 AK055149.1 BX640738.1 

    5 DOTS entries:

    DT.97788902  DT.304914  DT.91754095  DT.206010  DT.97764488 

    Selected AceView cDNA sequences (see all 148):

    BM787203 BM832761 CB216849 AB046766 BM996545 AK027819 BQ962464 AI075783 
    BE468212 AI969934 CA776280 BQ006500 BC019007 BG655477 AI800374 AW195209 
    AK000039 AW576543 BE062911 AL698305 T67037 BX644042 BM128649 BM476614 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TET2 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11
    SP1:                                                                          -                 -         
    SP2:        -     -     -     -           -                                                               
    SP3:                          -           -                                                               
    SP4:                          -                                                                           
    SP5:                                      -                                                               


    ECgene alternative splicing isoforms for TET2

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TET2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTATTTTTC
    TET2 Expression
    About this image

    TET2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TET2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.367639

    UniProtKB/Swiss-Prot: TET2_HUMAN, Q6N021
    Tissue specificity: Broadly expressed. Highly expressed in hematopoietic cells; highest expression observed in
    granulocytes. Expression is reduced in granulocytes from peripheral blood of patients affected by myelodysplastic
    syndromes

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TET2

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TET2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tet21 , 5 tet methylcytosine dioxygenase 21, 5 74.51(n)1
    62.55(a)1
      3 (61.84 cM)5
    2141331  NM_001040400.21  NP_001035490.21 
     1334636795 
    chicken
    (Gallus gallus)
    Aves TET21 tet methylcytosine dioxygenase 2 70.02(n)
    64.79(a)
      422540  NM_001277794.1  NP_001264723.1 
    lizard
    (Anolis carolinensis)
    Reptilia TET26
    tet methylcytosine dioxygenase 2
    48(a)
    1 ↔ 1
    GL343375.1(410831-426272)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tet21 tet methylcytosine dioxygenase 2 64.77(n)
    59.21(a)
      100380145  XM_002934777.2  XP_002934823.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tet26
    tet methylcytosine dioxygenase 2
    34(a)
    1 ↔ 1
    1(25256874-25269817) ENSDARG00000076928
    fruit fly
    (Drosophila melanogaster)
    Insecta CG434446
    --
    12(a)
    1 → many
    3L(2786206-2879158)


    ENSEMBL Gene Tree for TET2 (if available)
    TreeFam Gene Tree for TET2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TET2 gene
    TET12  TET32  
    1 SIMAP similar gene for TET2 using alignment to 6 protein entries:     TET2_HUMAN (see all proteins):
    TET3

    TET2 for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TET2 (see all 2672)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0581884
    A chronic myelomonocytic leukemia sample4--see VAR_0581882 V F mis40--------
    VAR_0581684
    A chronic myelomonocytic leukemia sample4--see VAR_0581682 R H mis40--------
    VAR_0581784
    A chronic myelomonocytic leukemia sample4--see VAR_0581782 P S mis40--------
    VAR_0581594
    A primary acute myeloid leukemia sample4--see VAR_0581592 R M mis40--------
    VAR_0581484
    Chronic myelomonocytic leukemia samples4--see VAR_0581482 E G mis40--------
    VAR_0581754
    A chronic myelomonocytic leukemia sample4--see VAR_0581752 S F mis40--------
    VAR_0581694
    A chronic myelomonocytic leukemia sample4--see VAR_0581692 R M mis40--------
    VAR_0581494
    A chronic myelomonocytic leukemia sample4--see VAR_0581492 P S mis40--------
    VAR_0581874
    A chronic myelomonocytic leukemia sample4--see VAR_0581872 R H mis40--------
    VAR_0581604
    A secondary acute myeloid leukemia sample4--see VAR_0581602 S F mis40--------

    HapMap Linkage Disequilibrium report for TET2 (106067032 - 106200973 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TET2 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2665439CNV Deletion23128226
    esv3798CNV Deletion18987735
    esv2728093CNV Deletion23290073
    esv1980765CNV Deletion18987734
    esv2597001CNV Deletion19546169
    esv2728094CNV Deletion23290073
    esv2009359CNV Deletion18987734
    nsv292428CNV Loss16902084
    nsv830025CNV Loss17160897
    nsv879698CNV Loss21882294

    Human Gene Mutation Database (HGMD): TET2
    Selected Site Specific Mutation Identification with PCR Assays for TET2 (see all 17):
    Cosmic IdAA Change
    46456p.Q557*
    43437p.N275fs*18
    87138p.C1298Y
    87130p.R1261C
    43520p.S460fs*26
    4 Site Specific Cancer Mutation PCR Panels containing TET2:
    Acute Myeloid Leukemia
    Cancer Comprehensive Panel 384HT
    Myelodysplastic Syndromes
    Tumor Suppressor Panel 384HT
    SeqTarget long-range PCR primers for resequencing TET2
    DNA2.0 Custom Variant and Variant Library Synthesis for TET2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612839   
    OMIM disorders: 614286  
    UniProtKB/Swiss-Prot: TET2_HUMAN, Q6N021
  • Note=TET2 is frequently mutated in myeloproliferative disorders (MPD). These constitute a heterogeneous
    group of disorders, also known as myeloproliferative diseases or myeloproliferative neoplasms (MPN),
    characterized by cellular proliferation of one or more hematologic cell lines in the peripheral blood, distinct
    from acute leukemia. Included diseases are: essential thrombocythemia, polycythemia vera, primary myelofibrosis
    (chronic idiopathic myelofibrosis). Bone marrow samples from patients display uniformly low levels of hmC in
    genomic DNA compared to bone marrow samples from healthy controls as well as hypomethylation relative to controls
    at the majority of differentially methylated CpG sites
  • Polycythemia vera (PV) [MIM:263300]: A myeloproliferative disorder characterized by abnormal
    proliferation of all hematopoietic bone marrow elements, erythroid hyperplasia, an absolute increase in total
    blood volume, but also by myeloid leukocytosis, thrombocytosis and splenomegaly. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Note=TET2 is frequently mutated in systemic mastocytosis; also known as systemic mast cell disease. A
    condition with features in common with myeloproliferative diseases. It is a clonal disorder of the mast cell and
    its precursor cells. The clinical symptoms and signs of systemic mastocytosis are due to accumulation of clonally
    derived mast cells in different tissues, including bone marrow, skin, the gastrointestinal tract, the liver, and
    the spleen
  • Myelodysplastic syndrome (MDS) [MIM:614286]: A heterogeneous group of closely related clonal
    hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired
    morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral
    blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA),
    refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory
    cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML)
    is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of
    patients that often progresses to acute myeloid leukemia (AML). Note=The disease is caused by mutations affecting
    the gene represented in this entry. Bone marrow samples from patients display uniformly low levels of hmC in
    genomic DNA compared to bone marrow samples from healthy controls as well as hypomethylation relative to controls
    at the majority of differentially methylated CpG sites

  • Selected diseases for TET2 (see all 34):    
    About MalaCards
    refractory anemia    acute myeloid leukemia with multilineage dysplasia    refractory anemia with excess blasts    acquired idiopathic sideroblastic anemia
    myelofibrosis with myeloid metaplasia, somatic    myelodysplastic syndrome, somatic    polycythemia vera    thrombocythemia 1
    chronic myelomonocytic leukemia    blastic plasmacytoid dendritic cell    myeloproliferative disorder    systemic mastocytosis
    essential thrombocythemia    mastocytosis    splenomegaly    sideroblastic anemia
    childhood leukemia    peripheral t-cell lymphoma    myelofibrosis    thrombocytosis

    5 diseases from the University of Copenhagen DISEASES database for TET2:
    Myelofibrosis     Thrombocytosis     Polycythemia vera     Leukemia
    Systemic mastocytosis

    TET2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TET2
    Human Genome Epidemiology (HuGE) Navigator: TET2 (24 documents)

    Export disorders for TET2 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)
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    PubMed articles for TET2 gene, integrated from 10 sources (see all 124):
    (articles sorted by number of sources associating them with TET2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation in TET2 in myeloid cancers. (PubMed id 19474426)1, 2, 4 Delhommeau F.... Bernard O.A. (N. Engl. J. Med. 2009)
    2. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. (PubMed id 19262601)1, 2, 4 Tefferi A.... Levine R.L. (Leukemia 2009)
    3. Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. (PubMed id 19262599)1, 2, 4 Tefferi A....Gilliland D.G. (Leukemia 2009)
    4. Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. (PubMed id 19420352)1, 2, 4 Abdel-Wahab O.... Levine R.L. (Blood 2009)
    5. Acquired mutations in TET2 are common in myelodysplastic syndromes. (PubMed id 19483684)1, 2, 4 Langemeijer S.M.C....Jansen J.H. (Nat. Genet. 2009)
    6. TET1, a member of a novel protein family, is fused to MLL in acute myeloid leukemia containing the t(10;11)(q22;q23). (PubMed id 12646957)1, 2, 3 Lorsbach R.B....Downing J.R. (Leukemia 2003)
    7. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    8. Crystal structure of TET2-DNA complex: insight into TET-mediated 5mC oxidation. (PubMed id 24315485)1, 2 Hu L.... Xu Y. (Cell 2013)
    9. TET2 promotes histone O-GlcNAcylation during gene transcription. (PubMed id 23222540)1, 2 Chen Q.... Yu X. (Nature 2013)
    10. TET2 mutations in childhood leukemia. (PubMed id 21042320)1, 4 Langemeijer S.M....Kuiper R.P. (Leukemia 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54790 HGNC: 25941 AceView: FLJ20032andKIAA1546 Ensembl:ENSG00000168769 euGenes: HUgn54790
    ECgene: TET2 H-InvDB: TET2

    (According to HUGE)
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    HUGE: KIAA1546

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TET2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TET2 gene:
    Search GeneIP for patents involving TET2

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



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