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Aliases for TET2 Gene

Aliases for TET2 Gene

  • Tet Methylcytosine Dioxygenase 2 2 3
  • KIAA1546 2 3 4 6
  • Tet Oncogene Family Member 2 2 3
  • EC 1.14.11.n2 4 63
  • MDS 3 6
  • Probable Methylcytosine Dioxygenase TET2 3
  • Methylcytosine Dioxygenase TET2 3

External Ids for TET2 Gene

Previous Symbols for TET2 Gene

  • KIAA1546

Summaries for TET2 Gene

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 with excess blasts 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 for TET2 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TET2 Gene

Genomics for TET2 Gene

Genomic Location for TET2 Gene

Start:
105,145,875 bp from pter
End:
105,279,816 bp from pter
Size:
133,942 bases
Orientation:
Plus strand

Genomic View for TET2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TET2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TET2 Gene

Regulatory Elements for TET2 Gene

Proteins for TET2 Gene

  • Protein details for TET2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6N021-TET2_HUMAN
    Recommended name:
    Methylcytosine dioxygenase TET2
    Protein Accession:
    Q6N021
    Secondary Accessions:
    • B5MDU0
    • Q2TB88
    • Q3LIB8
    • Q96JX5
    • Q9HCM6
    • Q9NXW0

    Protein attributes for TET2 Gene

    Size:
    2002 amino acids
    Molecular mass:
    223811 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Note=Binds 1 Fe(2+) ion per subunit.;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 3 zinc ions per subunit. The zinc ions have a structural role (PubMed:24315485).;
    Quaternary structure:
    • Interacts with HCFC1 and OGT.
    SequenceCaution:
    • Sequence=BAA90898.1; Type=Erroneous termination; Positions=325; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=BAA90898.1; Type=Frameshift; Positions=323; Evidence={ECO:0000305}; Sequence=BAA90898.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB55391.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TET2 Gene

    Alternative splice isoforms for TET2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TET2 Gene

Proteomics data for TET2 Gene at MOPED

Selected DME Specific Peptides for TET2 Gene

Post-translational modifications for TET2 Gene

  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TET2 Gene

Domains for TET2 Gene

Protein Domains for TET2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TET2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6N021

UniProtKB/Swiss-Prot:

TET2_HUMAN
Family:
  • Belongs to the TET family.:
    • Q6N021
genes like me logo Genes that share domains with TET2: view

No data available for Gene Families for TET2 Gene

Function for TET2 Gene

Molecular function for TET2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: DNA 5-methylcytosine + 2-oxoglutarate + O(2) = DNA 5-hydroxymethylcytosine + succinate + CO(2).
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for TET2 Gene

Gene Ontology (GO) - Molecular Function for TET2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 23222540
GO:0008198 ferrous iron binding IDA 24315485
GO:0008270 zinc ion binding IDA 24315485
GO:0070579 methylcytosine dioxygenase activity ISS --
genes like me logo Genes that share ontologies with TET2: view
genes like me logo Genes that share phenotypes with TET2: view

Animal Models for TET2 Gene

MGI Knock Outs for TET2:

miRNA for TET2 Gene

miRTarBase miRNAs that target TET2

No data available for Transcription Factor Targeting and HOMER Transcription for TET2 Gene

Localization for TET2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TET2 Gene COMPARTMENTS Subcellular localization image for TET2 gene
Compartment Confidence
nucleus 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TET2 Gene

Pathways for TET2 Gene

SuperPathways for TET2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TET2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0002318 myeloid progenitor cell differentiation IEA --
GO:0006211 5-methylcytosine catabolic process IDA 24315485
GO:0006493 protein O-linked glycosylation IMP 23353889
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with TET2: view

No data available for Pathways by source for TET2 Gene

Transcripts for TET2 Gene

Unigene Clusters for TET2 Gene

Tet methylcytosine dioxygenase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TET2 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11
SP1: - -
SP2: - - - - -
SP3: - -
SP4: -
SP5: -
SP6:
SP7: - - -

Relevant External Links for TET2 Gene

GeneLoc Exon Structure for
TET2
ECgene alternative splicing isoforms for
TET2

Expression for TET2 Gene

mRNA expression in normal human tissues for TET2 Gene

mRNA differential expression in normal tissues according to GTEx for TET2 Gene

This gene is overexpressed in Whole Blood (5.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TET2 Gene

SOURCE GeneReport for Unigene cluster for TET2 Gene Hs.367639

mRNA Expression by UniProt/SwissProt for TET2 Gene

Q6N021-TET2_HUMAN
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.
genes like me logo Genes that share expressions with TET2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TET2 Gene

Orthologs for TET2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TET2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TET2 35
  • 99.63 (n)
  • 99.2 (a)
TET2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TET2 35
  • 88.18 (n)
  • 83.16 (a)
TET2 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TET2 35
  • 90.3 (n)
  • 86.36 (a)
TET2 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tet2 35
  • 74.51 (n)
  • 62.55 (a)
Tet2 16
Tet2 36
  • 53 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TET2 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 18 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Tet2 35
  • 74.62 (n)
  • 63.8 (a)
chicken
(Gallus gallus)
Aves TET2 35
  • 70.02 (n)
  • 64.79 (a)
TET2 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TET2 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tet2 35
  • 64.77 (n)
  • 59.21 (a)
zebrafish
(Danio rerio)
Actinopterygii tet2 36
  • 34 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG43444 36
  • 12 (a)
OneToMany
Species with no ortholog for TET2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TET2 Gene

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

Paralogs for TET2 Gene

Paralogs for TET2 Gene

Selected SIMAP similar genes for TET2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with TET2: view

Variants for TET2 Gene

Sequence variations from dbSNP and Humsavar for TET2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs763480 -- 105,150,440(-) ACAAT(A/T)ACATT intron-variant
rs871215 -- 105,247,579(-) TCACA(C/G)TTTCT intron-variant
rs931653 -- 105,230,055(-) CAAAA(A/T)ATATA intron-variant
rs949681 -- 105,209,868(-) AACTT(C/T)TTGTC intron-variant
rs953256 -- 105,219,576(-) CACAT(C/G)CCCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TET2 Gene

Variant ID Type Subtype PubMed ID
nsv461609 CNV Loss 19166990
nsv470063 CNV Loss 18288195
nsv830025 CNV Loss 17160897
esv1980765 CNV Deletion 18987734
esv2597001 CNV Deletion 19546169
esv2728093 CNV Deletion 23290073
esv2009359 CNV Deletion 18987734
esv3798 CNV Deletion 18987735
esv2665439 CNV Deletion 23128226
esv2728094 CNV Deletion 23290073
nsv292428 CNV Loss 16902084
nsv879698 CNV Loss 21882294

Relevant External Links for TET2 Gene

HapMap Linkage Disequilibrium report
TET2
Human Gene Mutation Database (HGMD)
TET2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TET2 Gene

Disorders for TET2 Gene

(1) OMIM Diseases for TET2 Gene (612839)

UniProtKB/Swiss-Prot

TET2_HUMAN
  • 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). {ECO:0000269 PubMed:19372255, ECO:0000269 PubMed:19483684, ECO:0000269 PubMed:21057493}. 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.

(5) University of Copenhagen DISEASES for TET2 Gene

Relevant External Links for TET2

Genetic Association Database (GAD)
TET2
Human Genome Epidemiology (HuGE) Navigator
TET2
genes like me logo Genes that share disorders with TET2: view

Publications for TET2 Gene

  1. 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. (PMID: 10997877) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4
  2. TET1, a member of a novel protein family, is fused to MLL in acute myeloid leukemia containing the t(10;11)(q22;q23). (PMID: 12646957) Lorsbach R.B. … Downing J.R. (Leukemia 2003) 2 3 4
  3. Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. (PMID: 19420352) Abdel-Wahab O. … Levine R.L. (Blood 2009) 3 4 48
  4. Mutation in TET2 in myeloid cancers. (PMID: 19474426) Delhommeau F. … Bernard O.A. (N. Engl. J. Med. 2009) 3 4 48
  5. Acquired mutations in TET2 are common in myelodysplastic syndromes. (PMID: 19483684) Langemeijer S.M.C. … Jansen J.H. (Nat. Genet. 2009) 3 4 48

Products for TET2 Gene

Sources for TET2 Gene

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