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 more...

Aliases for TET2 Gene

Aliases for TET2 Gene

  • Tet Methylcytosine Dioxygenase 2 2 3 5
  • KIAA1546 2 3 4
  • Methylcytosine Dioxygenase TET2 3 4
  • Tet Oncogene Family Member 2 2 3
  • EC 1.14.11.n2 4 52
  • 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]

CIViC Summary for TET2 Gene

GeneCards Summary for TET2 Gene

TET2 (Tet Methylcytosine Dioxygenase 2) is a Protein Coding gene. Diseases associated with TET2 include Refractory Anemia and Myelodysplastic Syndrome With Excess Blasts. Among its related pathways are Gene Expression and MECP2 and Associated Rett Syndrome. Gene Ontology (GO) annotations related to this gene include ferrous iron binding and methylcytosine dioxygenase activity. An important paralog of this gene is TET3.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for TET2 Gene

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TET2 Gene

Genomics for TET2 Gene

GeneHancer (GH) Regulatory Elements for TET2 Gene

Promoters and enhancers for TET2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TET2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TET2

Top Transcription factor binding sites by QIAGEN in the TET2 gene promoter:
  • Egr-4
  • Evi-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HEN1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Pax-4a
  • Sox5

Genomic Locations for TET2 Gene

Genomic Locations for TET2 Gene
chr4:105,145,875-105,279,816
(GRCh38/hg38)
Size:
133,942 bases
Orientation:
Plus strand
chr4:106,067,032-106,200,973
(GRCh37/hg19)
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.
    Miscellaneous:
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    SequenceCaution:
    • Sequence=BAA90898.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=BAA90898.1; Type=Frameshift; 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=Truncated N-terminus.; 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

Selected DME Specific Peptides for TET2 Gene

Q6N021:
  • SLVFYQHK
  • GCPIAKWV
  • YTHLGAGP
  • EEKLLCLVR
  • EGRPFSGVT

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

Domains & Families for TET2 Gene

Gene Families for TET2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for TET2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TET2 Gene

GenScript: Design optimal peptide antigens:
  • TET2 protein (A7E237_HUMAN)
  • Methylcytosine dioxygenase TET2 (TET2_HUMAN)

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

Function for TET2 Gene

Molecular function for TET2 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + a 5-methyl-2'-deoxycytidine in DNA + O2 = a 5-hydroxymethyl-2'-deoxycytidine in DNA + CO2 + succinate; Xref=Rhea:RHEA:52636, Rhea:RHEA-COMP:11370, Rhea:RHEA-COMP:13315, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:85454, ChEBI:CHEBI:136731; EC=1.14.11.n2; Evidence=. ;.

Enzyme Numbers (IUBMB) for TET2 Gene

Phenotypes From GWAS Catalog 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:0005506 iron ion binding IBA 21873635
GO:0005515 protein binding IPI 23222540
GO:0008198 ferrous iron binding IDA 24315485
GO:0008270 zinc ion binding IDA 24315485
genes like me logo Genes that share ontologies with TET2: view
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:
  • Tet2 Tet2<tm1.2Mjxu>
  • Tet2 Tet2<tm1.1Mjxu>
  • Tet2 Tet2<tm1.2Rao>

Clone Products

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

Localization for TET2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TET2 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TET2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with TET2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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

1 Cell Signaling Technology pathway for TET2 Gene

SIGNOR curated interactions for TET2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TET2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006211 5-methylcytosine catabolic process IDA 24315485
GO:0006325 chromatin organization IEA --
GO:0006493 protein O-linked glycosylation IMP 23353889
GO:0007049 cell cycle IEA --
GO:0014070 response to organic cyclic compound IEA --
genes like me logo Genes that share ontologies with TET2: view

Drugs & Compounds for TET2 Gene

(11) Drugs for TET2 Gene - From: PharmGKB, ClinicalTrials, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra 739,739
Hydrochlorothiazide Approved, Vet_approved Pharma Inhibition, Inhibitor 447
Oxygen Approved, Vet_approved Pharma 0
Succinic acid Approved Nutra Full agonist, Agonist 0
Oxogluric acid Experimental, Investigational Nutra 0
genes like me logo Genes that share compounds with TET2: view

Transcripts for TET2 Gene

mRNA/cDNA for TET2 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

Expression for TET2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TET2 Gene



Protein tissue co-expression partners for TET2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TET2

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.

Evidence on tissue expression from TISSUES for TET2 Gene

  • Nervous system(4.5)
  • Blood(3.8)
  • Bone marrow(3.7)
  • Skin(2.1)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TET2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns 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 31 30
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TET2 31 30
  • 90.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TET2 31 30
  • 88.18 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tet2 30
  • 74.62 (n)
mouse
(Mus musculus)
Mammalia Tet2 17 31 30
  • 74.51 (n)
oppossum
(Monodelphis domestica)
Mammalia TET2 31
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 18 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TET2 31 30
  • 70.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TET2 31
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tet2 30
  • 64.77 (n)
zebrafish
(Danio rerio)
Actinopterygii tet2 31
  • 34 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG43444 31
  • 12 (a)
OneToMany
Species where no ortholog for TET2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TET2: view image

Paralogs for TET2 Gene

Paralogs for TET2 Gene

(1) SIMAP similar genes for TET2 Gene using alignment to 6 proteins:

  • TET2_HUMAN
  • A7E237_HUMAN
  • D6RE87_HUMAN
  • E7EPB1_HUMAN
  • E7EQS8_HUMAN
  • L8E8T1_HUMAN
genes like me logo Genes that share paralogs with TET2: view

Variants for TET2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TET2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
716821 Benign: not provided 105,243,566(+) G/A INTRON_VARIANT
721415 Likely Benign: not provided 105,275,310(+) C/G SYNONYMOUS_VARIANT
737539 Likely Benign: not provided 105,234,821(+) T/C SYNONYMOUS_VARIANT
740778 Likely Benign: not provided 105,259,667(+) C/T SYNONYMOUS_VARIANT
746874 Benign: not provided 105,234,548(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TET2 Gene

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

Variant ID Type Subtype PubMed ID
esv1980765 CNV deletion 18987734
esv2009359 CNV deletion 18987734
esv2597001 CNV deletion 19546169
esv2665439 CNV deletion 23128226
esv2728093 CNV deletion 23290073
esv2728094 CNV deletion 23290073
esv3601657 CNV loss 21293372
esv3601659 CNV loss 21293372
esv3798 CNV loss 18987735
nsv1000196 CNV loss 25217958
nsv292428 CNV deletion 16902084
nsv461609 CNV loss 19166990
nsv470063 CNV loss 18288195
nsv595007 CNV loss 21841781
nsv830025 CNV loss 17160897
nsv950373 CNV duplication 24416366

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)

Additional Variant Information for TET2 Gene

Human Gene Mutation Database (HGMD)
TET2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TET2

SNP Genotyping and Copy Number Assay Products

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

Disorders for TET2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
refractory anemia
  • anemia refractory
myelodysplastic syndrome with excess blasts
  • raeb
myelodysplastic syndrome
  • mds
polycythemia vera
  • pv
autosomal recessive pyridoxine-refractory sideroblastic anemia 2
  • pyridoxine-refractory autosomal recessive sideroblastic anemia
- 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
  • 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.

Additional Disease Information for TET2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 OA (The New England journal of medicine 2009) 3 4 41 54
  2. Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. (PMID: 19262599) Tefferi A … Gilliland DG (Leukemia 2009) 3 4 41 54
  3. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. (PMID: 19262601) Tefferi A … Levine RL (Leukemia 2009) 3 4 41 54
  4. Acquired mutations in TET2 are common in myelodysplastic syndromes. (PMID: 19483684) Langemeijer SM … Jansen JH (Nature genetics 2009) 3 4 41 54
  5. Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. (PMID: 19420352) Abdel-Wahab O … Levine RL (Blood 2009) 3 4 41 54

Products for TET2 Gene

Sources for TET2 Gene