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Aliases for TET2 Gene

Aliases for TET2 Gene

  • Tet Methylcytosine Dioxygenase 2 2 3 5
  • KIAA1546 2 3 4
  • Tet Oncogene Family Member 2 2 3
  • EC 1.14.11.n2 4 63
  • Probable Methylcytosine Dioxygenase TET2 3
  • MDS 3

External Ids for TET2 Gene

Previous HGNC Symbols for TET2 Gene

  • KIAA1546

Previous GeneCards Identifiers for TET2 Gene

  • GC04P106287
  • GC04P106067
  • GC04P101803

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 myelodysplastic syndrome and refractory anemia. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Gene Expression. GO annotations related to this gene include ferrous iron binding and 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

Regulatory Elements for TET2 Gene

Enhancers for TET2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TET2 on UCSC Golden Path with GeneCards custom track

Promoters for TET2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TET2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TET2 Gene

Chromosome:
4
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

Genes around TET2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TET2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TET2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    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

Antibody Products

Domains & Families 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 :
  • Belongs to the TET family.
Family:
  • Belongs to the TET family.
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

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

Human Phenotype Ontology for TET2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TET2 Gene

MGI Knock Outs for TET2:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 4
cytosol 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 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 & Interactions for TET2 Gene

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

Pathways by source for TET2 Gene

SIGNOR curated interactions for TET2 Gene

Activates:

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 IEA,IMP 23353889
GO:0009791 post-embryonic development IEA --
genes like me logo Genes that share ontologies with TET2: view

Drugs & Compounds for TET2 Gene

(2) Drugs for TET2 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrochlorothiazide Approved Pharma Inhibition, Inhibitor 396
Succinic acid Approved Nutra Full agonist, Agonist 0

(2) Additional Compounds for TET2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
genes like me logo Genes that share compounds with TET2: view

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 (x5.8).

Protein differential expression in normal tissues from HIPED for TET2 Gene

This gene is overexpressed in Heart (46.5) and Placenta (22.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with TET2: view

Protein tissue co-expression partners for TET2 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
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 36
  • 53 (a)
OneToOne
Tet2 16
chimpanzee
(Pan troglodytes)
Mammalia TET2 35
  • 99.63 (n)
  • 99.2 (a)
TET2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tet2 35
  • 74.62 (n)
  • 63.8 (a)
oppossum
(Monodelphis domestica)
Mammalia TET2 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 18 (a)
ManyToMany
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

(1) 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
VAR_039841 -
VAR_039842 -
VAR_039843 -
VAR_039844 -
VAR_058130 -

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

Variation tolerance for TET2 Gene

Residual Variation Intolerance Score: 7.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.73; 93.28% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(33) MalaCards diseases for TET2 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myelodysplastic syndrome
  • myelodysplastic syndrome, somatic
refractory anemia
  • refractory anemias
refractory anemia with excess blasts
acquired idiopathic sideroblastic anemia
  • aisa
aml with myelodysplasia-related features
  • acute myeloid leukemia with multilineage dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search TET2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TET2_HUMAN
  • 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.
  • 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.
  • 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.
  • 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.

Relevant External Links for TET2

Genetic Association Database (GAD)
TET2
Human Genome Epidemiology (HuGE) Navigator
TET2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TET2
genes like me logo Genes that share disorders with TET2: view

No data available for Genatlas for TET2 Gene

Publications for TET2 Gene

  1. Mutation in TET2 in myeloid cancers. (PMID: 19474426) Delhommeau F. … Bernard O.A. (N. Engl. J. Med. 2009) 3 4 48 67
  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
  3. 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. Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. (PMID: 25429064) He M. … Qi L. (Hum. Mol. Genet. 2015) 3
  5. Oxidized low-density lipoprotein inhibits THP-1-derived macrophage autophagy via TET2 down-regulation. (PMID: 25503193) Li G. … Wei D. (Lipids 2015) 3

Products for TET2 Gene

Sources for TET2 Gene

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