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

TET2 Gene

protein-coding   GIFtS: 55
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)
About This Section

Aliases
Tet Methylcytosine Dioxygenase 21 2     MDS2
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 and oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen. 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. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TET2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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 (By similarity)
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;
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:

  • UniProtKB: 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
    ortholog
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6N021

  • 4/5 DME Specific Peptides for TET2 (Q6N021) (see all 5)
     SLVFYQHK  YTHLGAGP  GCPIAKWV  EGRPFSGVT 

    TET2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TET2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001120680.1  NP_060098.3  

    ENSEMBL proteins: 
     ENSP00000306705   ENSP00000425443   ENSP00000369351   ENSP00000265149   ENSP00000391448  
     ENSP00000426885   ENSP00000442788   ENSP00000442867   ENSP00000378245  

    Human Recombinant Protein Products for TET2: 
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for TET2
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    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 Antibodies
    Abcam antibodies for TET2
    Cloud-Clone Corp. Antibodies for TET2 
    ThermoFisher Antibodies for TET2
    LSBio Antibodies in human, mouse, rat for TET2 

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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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: 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. 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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ----
    GO:0046872metal ion binding IEA--
    GO:0070579methylcytosine dioxygenase activity ISS--
         
    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  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 - Custom generated mouse model solutions for TET2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TET2
    8/151 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of TET2

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for TET2 (see all 9)
    OriGene ORF clones in mouse, rat for TET2
    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)
    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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    Search LifeMap BioReagents cell lines for TET2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TET2


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TET2

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

    2 Interacting proteins for TET2 (Q6N0213 ENSP000003693514) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TBC1D4O603433, ENSP000003668634I2D: score=2 STRING: ENSP00000366863
    TCF3ENSP000002629654STRING: ENSP00000262965
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IEA--
    GO:0006493protein O-linked glycosylation IMP--
    GO:0007049cell cycle IEA--
    GO:0009791post-embryonic development IEA--
    GO:0030097hemopoiesis ----

    TET2 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 TET2

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 TET2 gene (2 alternative transcripts): 
    NM_001127208.2  NM_017628.4  

    Unigene Clusters for TET2:

    Tet methylcytosine dioxygenase 2
    Hs.367639  [show with all ESTs], Hs.706276  [show with all ESTs]
    Unigene Representative Sequences: BX640738, FM992369
    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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TET2
    8/151 QIAGEN miScript miRNA 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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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TET2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TET2
    Clone
    Products:
         
    OriGene clones in human, mouse for TET2 (see all 9)
    OriGene ORF clones in mouse, rat for TET2
    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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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TET2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TET2

    Additional mRNA sequence: 

    AB046766.1 AB075496.1 AK000039.1 BC019007.2 BC110509.1 BC110510.2 BC150180.1 BC150201.1 
    CR936743.1 FM992369.1 

    13 DOTS entries:

    DT.95371075  DT.121225878  DT.304914  DT.97788902  DT.91923504  DT.91754095  DT.75175261  DT.206010 
    DT.97764488  DT.121225986  DT.91653734  DT.92439447  DT.86850719 

    24/148 AceView cDNA sequences (see all 148):

    AB046766 AI969934 BM832761 BM996545 AI075783 BM787203 BQ006500 BC019007 
    BQ962464 CA776280 CB216849 AK027819 BE468212 AI800374 BG655477 BE264571 
    AW195209 BE062911 BX644042 AA018223 BX091743 BM128649 AI094374 AW576543 

    GeneLoc Exon Structure

    5/7 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™, 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

    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


    See TET2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TET2

    SOURCE GeneReport for Unigene clusters: Hs.367639 Hs.706276

    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

        SABiosciences Custom PCR Arrays for TET2
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TET2
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TET2 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tet21 , 5 tet methylcytosine dioxygenase 21, 5 75.12(n)1
    63.45(a)1
      3 (61.84 cM)5
    2141331  NM_001040400.21  NP_001035490.21 
     1334636795 
    chicken
    (Gallus gallus)
    Aves TET26
    Uncharacterized protein
    62(a)
    1 ↔ 1
    4(38256307-38277565)
    lizard
    (Anolis carolinensis)
    Reptilia TET26
    Uncharacterized protein
    55(a)
    1 ↔ 1
    GL343375.1(410831-426272)
    zebrafish
    (Danio rerio)
    Actinopterygii tet26
    tet methylcytosine dioxygenase 2
    39(a)
    1 ↔ 1
    1(25256874-25269817)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG434446
    --
    11(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)
    About This Section
    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) 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

    10/2672 SNPs in TET2 are shown (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) 10/12 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
    5/17 SABiosciences Cancer Mutation PCR Assays for TET2 (see all 17):
    Cosmic IdAA Change
    46456p.Q557*
    43437p.N275fs*18
    87138p.C1298Y
    87130p.R1261C
    43520p.S460fs*26
    4 SABiosciences Cancer Mutation PCR Arrays 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612839    OMIM disorders: --

    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

  • 20/28 diseases for TET2 (see all 28):    About MalaCards
    refractory anemia    acute myeloid leukemia with multilineage dysplasia    acquired idiopathic sideroblastic anemia    systemic mastocytosis
    chronic myelomonocytic leukemia    essential thrombocythemia    mastocytosis    juvenile myelomonocytic leukemia
    childhood leukemia    splenomegaly    myelofibrosis    polycythemia vera
    polycythemia    thrombocytosis    acute myeloid leukemia    peripheral t-cell lymphoma
    myelodysplastic syndromes    alcohol dependence    myeloid leukemia    chronic myeloid leukemia

    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)
    About This Section

    PubMed articles for TET2 gene, integrated from 9 sources (see all 113):
    (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. (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. (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. (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. (2009)
    5. Acquired mutations in TET2 are common in myelodysplastic syndromes. (PubMed id 19483684)1, 2, 4 Langemeijer S.M.C....Jansen J.H. (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. (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. (2000)
    8. TET2 promotes histone O-GlcNAcylation during gene transcription. (PubMed id 23222540)1, 2 Chen Q.... Yu X. (2013)
    9. Incidence and prognostic value of TET2 alterations in de novo acute myeloid leukemia achieving complete remission. (PubMed id 20489055)1, 4 Nibourel O....Preudhomme C. (2010)
    10. Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, J AK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes a nd acute myeloid leukemias. (PubMed id 20678218)1, 4 Rocquain J....Mozziconacci M.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54790 HGNC: 25941 AceView: FLJ20032andKIAA1546 Ensembl:ENSG00000168769 euGenes: HUgn54790
    ECgene: TET2 H-InvDB: TET2

    (According to HUGE)
    About This Section
    HUGE: KIAA1546

    (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 TET2 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 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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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     Regulatory tfbs in TET2 promoter
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