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

Gene ID: 54790, updated on 7-Dec-2014
Official Symbol
TET2provided by HGNC
Official Full Name
tet methylcytosine dioxygenase 2provided by HGNC
Primary source
HGNC:HGNC:25941
Locus tag
Nbla00191
See related
Ensembl:ENSG00000168769; HPRD:07876; 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]
See TET2 in Epigenomics, MapViewer
Location:
4q24
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 nucleoporin Nup43-like Neighboring gene uncharacterized LOC101929491 Neighboring gene pyrophosphatase (inorganic) 2 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 9

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 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
  • 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...
  • 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
 
histone H3-K4 trimethylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
kidney development IEA
Inferred from Electronic Annotation
more info
 
myeloid cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
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 
Preferred Names
methylcytosine dioxygenase TET2
Names
methylcytosine dioxygenase TET2
tet oncogene family member 2
probable methylcytosine dioxygenase TET2
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 

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

mRNA and Protein(s)

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

    See proteins identical to 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
    Related
    ENSP00000369351, OTTHUMP00000161870, ENST00000380013, OTTHUMT00000253952
    Conserved Domains (1) summary
    pfam12851
    Location:12901424
    Tet_JBP; Oxygenase domain of the 2OGFeDO superfamily
  2. NM_017628.4NP_060098.3  methylcytosine dioxygenase TET2 isoform b

    See proteins identical to 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/TrEMBL
    A0A024RDF7
    UniProtKB/Swiss-Prot
    Q6N021
    Related
    ENSP00000306705, OTTHUMP00000161869, ENST00000305737, OTTHUMT00000253951

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

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

mRNA and Protein(s)

  1. XM_006714242.1XP_006714305.1  

    Conserved Domains (1) summary
    pfam12851
    Location:11901324
    Tet_JBP; Oxygenase domain of the 2OGFeDO superfamily
  2. XM_005263082.1XP_005263139.1  

    See proteins identical to XP_005263139.1

    UniProtKB/Swiss-Prot
    Q6N021
    Conserved Domains (1) summary
    pfam12851
    Location:12901424
    Tet_JBP; Oxygenase domain of the 2OGFeDO superfamily
  3. XM_006714243.1XP_006714306.1  

    UniProtKB/TrEMBL
    E7EPB1
    Related
    ENSP00000391448, OTTHUMP00000219511, ENST00000413648, OTTHUMT00000363309

RNA

  1. XR_244634.1 RNA Sequence

  2. XR_244633.1 RNA Sequence

  3. XR_427546.1 RNA Sequence

  4. XR_427547.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

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

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    101802173..101936091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)