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    TET2 tet methylcytosine dioxygenase 2 [ Homo sapiens (human) ]

    Gene ID: 54790, updated on 19-Jan-2017
    Official Symbol
    TET2provided by HGNC
    Official Full Name
    tet methylcytosine dioxygenase 2provided by HGNC
    Primary source
    HGNC:HGNC:25941
    See related
    Ensembl:ENSG00000168769 MIM:612839; Vega:OTTHUMG00000131213
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MDS; KIAA1546
    Summary
    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]
    Orthologs
    Location:
    4q24
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (105145875..105279803)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (106067032..106200960)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 351, pseudogene Neighboring gene nucleoporin Nup43-like Neighboring gene TET2 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 89, pseudogene Neighboring gene pyrophosphatase (inorganic) 2 Neighboring gene RNA, U6 small nuclear 553, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Myelodysplastic syndrome
    MedGen: C0026986 OMIM: 614286 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.
    NHGRI GWA Catalog
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Identification of a melanoma susceptibility locus and somatic mutation in TET2.
    NHGRI GWA Catalog
    Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
    NHGRI GWA Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    • Cytosine methylation, organism-specific biosystem (from WikiPathways)
      Cytosine methylation, organism-specific biosystemDNA, namely cytosine, methylation is the key event in epigentics. The degree of methylation influences gene expression and methylation disorders are known to be major causes of some diseases like Ret...
    • Epigenetic regulation of gene expression, organism-specific biosystem (from REACTOME)
      Epigenetic regulation of gene expression, organism-specific biosystemEpigenetic processes regulate gene expression by modulating the frequency, rate, or extent of gene expression in a mitotically or meiotically heritable way that does not entail a change in the DNA se...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • MECP2 and Associated Rett Syndrome, organism-specific biosystem (from WikiPathways)
      MECP2 and Associated Rett Syndrome, organism-specific biosystemMecp2 is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. Mecp2 plays...
    • TET1,2,3 and TDG demethylate DNA, organism-specific biosystem (from REACTOME)
      TET1,2,3 and TDG demethylate DNA, organism-specific biosystemAbout 2-6% of all cytosine residues and 70-80% of cytosine residues in CG dinucleotides in mammalian cells are methylated at the 5 position of the pyrimidine ring. The cytosine residues are methylate...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20032, KIAA1546, MGC125715

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    ferrous iron binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    methylcytosine dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    methylcytosine dioxygenase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    methylcytosine dioxygenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    5-methylcytosine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA demethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cytosine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    hematopoietic stem cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    hemoglobin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    histone H3-K4 trimethylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    liver morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    myeloid cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    myeloid progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    oxidative demethylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    protein O-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein O-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    spleen development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    methylcytosine dioxygenase TET2
    Names
    probable methylcytosine dioxygenase TET2
    tet oncogene family member 2
    NP_001120680.1
    NP_060098.3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028191.1 RefSeqGene

      Range
      5001..138929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_626

    mRNA and Protein(s)

    1. NM_001127208.2NP_001120680.1  methylcytosine dioxygenase TET2 isoform a

      See identical proteins and their annotated locations for NP_001120680.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BQ006500, BX640738, DR005542, FM992369
      Consensus CDS
      CCDS47120.1
      UniProtKB/Swiss-Prot
      Q6N021
      UniProtKB/TrEMBL
      A0A158SIU0
      Related
      ENSP00000369351, OTTHUMP00000161870, ENST00000380013, OTTHUMT00000253952
      Conserved Domains (1) summary
      pfam12851
      Location:12901417
      Tet_JBP; Oxygenase domain of the 2OGFeDO superfamily
    2. NM_017628.4NP_060098.3  methylcytosine dioxygenase TET2 isoform b

      See identical proteins and their annotated locations for NP_060098.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC026029, BX640738
      Consensus CDS
      CCDS3666.1
      UniProtKB/Swiss-Prot
      Q6N021
      UniProtKB/TrEMBL
      A0A024RDF7
      Related
      ENSP00000306705, OTTHUMP00000161869, ENST00000305737, OTTHUMT00000253951

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      105145875..105279803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263082.2XP_005263139.1  

      See identical proteins and their annotated locations for XP_005263139.1

      UniProtKB/Swiss-Prot
      Q6N021
      UniProtKB/TrEMBL
      A0A158SIU0
      Conserved Domains (1) summary
      pfam12851
      Location:12901417
      Tet_JBP; Oxygenase domain of the 2OGFeDO superfamily
    2. XM_006714242.3XP_006714305.1  

      Conserved Domains (1) summary
      pfam12851
      Location:11901317
      Tet_JBP; Oxygenase domain of the 2OGFeDO superfamily
    3. XM_017008319.1XP_016863808.1  

    RNA

    1. XR_244634.3 RNA Sequence

      Related
      ENST00000265149, OTTHUMT00000363310
    2. XR_244633.3 RNA Sequence

    3. XR_427546.3 RNA Sequence

    4. XR_001741246.1 RNA Sequence

    5. XR_938746.2 RNA Sequence

    6. XR_938747.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      106044130..106178054
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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