1. Gene
  2. TET2 - tet methylcytosine dioxygenase 2 Gene

TET2 - tet methylcytosine dioxygenase 2 Gene

Homo sapiens

Also known as MDS; IMD75; KIAA1546

Gene ID: 54790 | Gene type: protein coding

About TET2

Cytogenetic location: 4q24 Genomic coordinates (GRCh38): 4:105,145,875-105,279,803 (from NCBI)

This gene has 9 transcripts (splice variants), 199 orthologues, 2 paralogues and is associated with 160 phenotypes. Ubiquitous expression in bone marrow (RPKM 5.5), appendix (RPKM 4.6) and 25 other tissues.

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]

TET2 Products(2)

mRNA Protein Name
NM_001127208.3 NP_001120680.1 methylcytosine dioxygenase TET2 isoform a
NM_017628.4 NP_060098.3 methylcytosine dioxygenase TET2 isoform b
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables 5-methylcytosine dioxygenase activity IDA
IDA: Inferred from direct assay
24315485 GOA
enables 5-methylcytosine dioxygenase activity IMP
IMP: Inferred from mutant phenotype
21057493 GOA
enables ferrous iron binding IDA
IDA: Inferred from direct assay
24315485 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23222540 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
24315485 GOA
Biological Process GO Annotation Evidence Reference Source
involved in leukocyte differentiation IMP
IMP: Inferred from mutant phenotype
32518946 GOA
involved in myeloid cell differentiation IMP
IMP: Inferred from mutant phenotype
21057493 GOA
involved in positive regulation of gene expression via chromosomal CpG island demethylation IDA
IDA: Inferred from direct assay
24315485 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
23222540 GOA
involved in protein O-linked glycosylation IDA
IDA: Inferred from direct assay
23222540 GOA
involved in protein O-linked glycosylation IMP
IMP: Inferred from mutant phenotype
23353889 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TET2 Protein Structure

Tet_JBP

Tet_JBP: Oxygenase domain of the 2OGFeDO superfamily (1290 - 1905)

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  • 1600
  • 2002 a.a.
Protein Preferred Names Protein Names

methylcytosine dioxygenase TET2

probable methylcytosine dioxygenase TET2

Related Diseases

Diseases Alias
Immunodeficiency 75

IMD75

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Refractory Anemia

Anemia Refractory

Refractory Anemias

Refractory Anemia, Without Ringed Sideroblasts, Without Excess Blasts

Refractory Anaemia Without Sideroblasts

Refractory Anaemia With Sideroblasts

Acquired Idiopathic Sideroblastic Anaemia

Primary Acquired Sideroblastic Anaemia

Refractory Sideroblastic Anaemia

Refractory Anaemia With Excess Blasts

Raeb - [Refractory Anaemia With Excess Blasts] Nos

Raeb - [Refractory Anaemia With Excess Blasts]

Rars-T [Refractory Anaemia With Ringed Sideroblasts Associated With Marked Thrombocytosis]

Refractory Anemia With Excess Blasts Type 2

Raeb-2

Refractory Anemia With Excess Blasts Ii

Refractory Anemia With Excess Blasts Type 1

Raeb-1

Refractory Anemia With Excess Blasts I

Aml With Myelodysplasia-Related Features

Acute Myeloid Leukemia With Multilineage Dysplasia

Aml With Multilineage Dysplasia

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Aggressive Systemic Mastocytosis

Asm

Lymphadenopathic Mastocytosis With Eosinophilia

Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Refractory Anemia With Ringed Sideroblasts

Acquired Idiopathic Sideroblastic Anemia

Aisa

Primary Acquired Sideroblastic Anemia

Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anaemia 2

Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anaemia

Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia

Sideroblastic Anemia Pyridoxine-Refractory Autosomal Recessive

Pyridoxine Refractory Sideroblastic Anemia

Systemic Mastocytosis With Associated Hematologic Neoplasm

Systemic Mastocytosis With An Associated Clonal Hematologic Non-Mast Cell Lineage Disease

Sm-Ahn

Sm-Ahnmd

Systemic Mastocytosis With Associated Clonal, Hematologic Non-Mast-Cell Lineage Disease

Polycythemia Vera

PV

Polycythemia Rubra Vera

Prv

Osler-Vaquez Disease

Chronic Erythremia

Polycythaemia Rubra Vera

Primary Polycythemia

Vaquez Disease

Polycythemia Vera, Somatic

Osler-Vaquez Syndrome

Proliferative Polycythaemia

Polycythemia Ruba Vera

Acquired Primary Erythrocytosis

Heilmeyer-Schoner Disease

Vaquez Osler Disease

Primary Polycythaemia

Myelofibrosis

Primary Myelofibrosis

Agnogenic Myeloid Metaplasia

Idiopathic Myelofibrosis

Myeloid Metaplasia

Myelofibrosis With Myeloid Metaplasia

Osteomyelofibrosis

Megakaryocytic Myelosclerosis

Myelosclerosis

Chronic Idiopathic Myelofibrosis

Myelofibrosis, Idiopathic

Myelofibrosis With Myeloid Metaplasia, Somatic

Myelofibrosis, Somatic

Aleukemic Myelosis

Bone Marrow Fibrosis

MYELOF

MMM

Agnogenic Myeloid Metaplasia With Myelofibrosis

Ammm

Myelosclerosis With Myeloid Metaplasia

Myelofibrosis Nos

Essential Thrombocythemia

Essential Thrombocytosis

Familial Thrombocytosis

Hemorrhagic Thrombocythemia

Hereditary Thrombocythemia

Primary Thrombocytosis

Idiopathic Thrombocythemia

Primary Thrombocythemia

Thrombocythemia, Essential

Essential Thrombocythaemia

Et

Familial Thrombocythemia

Thrombocythemia Essential

Systemic Mastocytosis

Systemic Mast Cell Disease

Systemic Tissue Mast Cell Disease

Mastocytosis, Systemic

Smcd - Systemic Mast Cell Disease

Smcd

Mast Cell Disease, Systemic

Systemic Mast-Cell Disease

Systemic Mastocytoses

Mastocytosis Systemic

Corneal Dystrophy, Subepithelial Mucinous

Smcd - [Systemic Mast Cell Disease]

Mastocytosis

Mast Cell Disease

Mast Cell Hyperplasia

Urticaria Pigmentosa

Malignant Mastocytoma

Malignant Mast Cell Tumours

Malignant Mastocytosis

Thrombocytosis

Thrombocythaemia

Chronic Myelomonocytic Leukemia

Leukemia, Myelomonocytic, Chronic

Cmml

Leukemia Myelomonocytic Chronic

Cmml - [Chronic Myelomonocytic Leukaemia]

Chronic Myelomonocytic Leukaemia Without Mention Of Remission

Chronic Monocytic Leukaemia

Chronic Monocytoid Leukaemia

Plasma Cell Neoplasm

Plasma Cell Dyscrasia

Paraproteinemias

Plasma Cell Tumour

Plasmacytic Tumor

Multiple Myeloma

Plasmacytoma

Plasma Cell Tumours

Plasma Cells Dyscrasia

Polycythemia

Erythrocythemia

Polycythemia Vera

Polycythaemia Due To High Altitude

Myeloma, Multiple

Multiple Myeloma

Plasma Cell Myeloma

Kahler Disease

Myelomatosis

Medullary Plasmacytoma

Multiple Myeloma, Resistance To

Myeloma

Plasma Cell Dyscrasia

Kahler'S Disease

Multiple Myeloma, Susceptibility To

Myeloma - Multiple

Kahler-Bozzolo Disease

Plasma Cell Myelomas

MM

Plasma Cell Neoplasm

Primary Systemic Amyloidosis

Primary Amyloidosis

Immunoglobulin Deposition Disease

Plasmacytic Myeloma

Multiple Myelomata

Multiple Myeloma Nos

Multiple Myeloma Without Mention Of Remission

Monostotic Plasma Cell Myeloma

Mm - [Multiple Myeloma]

Refractory Anemia With Excess Blasts

Raeb

Refractory Cytopenia With Multilineage Dysplasia
Mastocytosis, Cutaneous

Urticaria Pigmentosa

Cutaneous Mastocytosis

Diffuse Cutaneous Mastocytosis

Maculopapular Cutaneous Mastocytosis

Mastocytosis, Diffuse Cutaneous

MASTC

Mastocytosis, Maculopapular Cutaneous

Mastocytosis, Systemic, Somatic

Mastocytoma

Dcm

Diffuse Cutaneous Maculopapulous Mastocytosis

Up/Mpcm

Cm

Mastocytosis, Systemic

MASTSYS

Mast Cell Disease

Mast-Cell Disease

Mast Cell Leukemia

Mastocytosis, Indolent

Mastocytosis With Associated Hematologic Disorder

Mast Cell Neoplasm

Benign Mastocytoma

Angioimmunoblastic T-Cell Lymphoma

Immunoblastic Lymphadenopathy

Lymphogranulomatosis X

T-Cell Lymphoma, Aild Type

Aitl

Ailt

Angioimmunoblastic Lymphadenopathy

Aild - [Angioimmunoblastic Lymphadenopathy With Dysproteinaemia]

Angioimmunoblastic Lymphoma

Myeloid Leukemia

Myeloid Leukaemia

Leukaemia Myelogenous

Leukemia Myelogenous

Myeloid Granulocytic Leukaemia

Myeloid Granulocytic Leukemia

Non-Lymphocytic Leukemia

Leukemia, Myeloid

Granulocytic Leukaemia

Myelogenous Leukaemia

Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Myeloproliferative Neoplasm

Myeloproliferative Disorder

Chronic Myeloproliferative Disease

Myeloproliferative Neoplasms

Chronic Myeloproliferative Disorder

Cmpd

Cmpd, U

Chronic Myeloproliferative Disorders

Mpd

Mpn

Myeloproliferative Disorders

Myeloproliferative Disease

Campomelic Dysplasia

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic

JMML

Leukemia, Juvenile Myelomonocytic, Somatic

Juvenile Chronic Myelomonocytic Leukemia

Juvenile Chronic Myelogenous Leukemia

Leukemia, Myelomonocytic, Juvenile

Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Adult Spinal Cord Glioblastoma Multiforme

Glioblastoma Multiforme Of Spinal Cord

Adult Spinal Cord Glioblastoma

Sm-Ahnmd

Systemic Mastocytosis With Associated Clonal, Hematologic Non-Mast-Cell Lineage Disease

Systemic Mastocytosis With Associated Clonal Haematological Non-Mast Cell Lineage Disease

Systemic Mastocytosis With Associated Clonal Hematological Non-Mast-Cell Lineage Disease

Chronic Leukemia

Adult Chronic Leukemia

Cll

Cml

Vexas Syndrome

VEXAS

Vexas Syndrome, Somatic

Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory And Somatic Syndrome

Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome

Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic

Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative

Atypical Chronic Myeloid Leukemia

Atypical Chronic Myeloid Leukaemia

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Acml

Atypical Chronic Myeloid Leukaemia Bcr-Abl1 Negative

Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Atypical Cml

Subacute Myeloid Leukemia

Subacute Myelogenous Leukaemia

Subacute Myeloid Leukaemia

Subacute Myelosis

Atypical Chronic Myeloid Leukaemia, Bcr-Abl-Negative Without Mention Of Remission

Subacute Monocytic Leukaemia Without Mention Of Remission

Subacute Monocytic Leukaemia

Myelodysplastic/Myeloproliferative Neoplasm

Myelodysplastic-Myeloproliferative Diseases

Myelodysplastic/Myeloproliferative Disease

Myelodysplastic Myeloproliferative Cancer

Myelodysplastic Myeloproliferative Disease

Myeloproliferative/Myelodysplastic Syndromes

Myelophthisic Anemia

Myelophthisis

Anemia Leukoerythroblastic

Anemia, Leukoerythroblastic

Leukoerythroblastosis

Anemia, Myelophthisic

Leukoerythroblastic Anemia

Bone Marrow Cancer

Malignant Neoplasm Of Bone Marrow

Bone Marrow Neoplasm

Bone Marrow Tumor

Malignant Bone Marrow Tumor

Myeloproliferative Disorders

Bone Marrow Neoplasms

Myeloproliferative Disease

Chronic Myeloproliferative Disorder

Chronic Neutrophilic Leukemia

Cnl

Leukemia Neutrophilic Chronic

Core Binding Factor Acute Myeloid Leukemia

Cbf Acute Myeloid Leukemia

Cbf-Aml

Core-Binding Factor Aml

Chronic Eosinophilic Leukemia

Pdgfra-Associated Chronic Eosinophilic Leukemia

Extracutaneous Mastocytoma

Mastocytoma

Mast Cell Neoplasm

Benign Mastocytoma

Mature T-Cell And Nk-Cell Lymphoma

Mature T-Cell And Natural Killer Cell Lymphoma

Nk-T Cell Lymphoma

Acute Myeloid Leukemia With Bcr-Abl1

Acute Myeleoid Leukemia With Bcr-Abl1

Diamond-Blackfan Anemia 11

DBA11

Rpl26-Related Diamond-Blackfan Anemia

Anemia, Diamond-Blackfan, Type 11

Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Tatton-Brown-Rahman Syndrome

TBRS

Dnmt3a Overgrowth Syndrome

Tatton-Brown-Rahman Overgrowth Syndrome

Dos

Dnmt3a-Related Overgrowth Syndrome

Doid:0112339

Dose

Hypoascorbemia

Scurvy

Ascorbic Acid Deficiency

Vitamin C Deficiency

Vitamin C, Inability To Synthesize

Deficiency Of Vitamin C

Scorbutus

Vitamin C

T-Cell Adult Acute Lymphocytic Leukemia

Acute Adult T-Cell Leukemia-Lymphoma

Adult Precursor T Lymphoblastic Leukemia

Atll

T-Cell Adult Acute Lymphoblastic Leukemia

Multiple Enchondromatosis, Maffucci Type

Maffucci Syndrome

Chondrodysplasia With Hemangioma

Chondroplasia Angiomatosis

Enchondromatosis With Hemangiomata

Hemangiomatosis Chondrodystrophica

Kast Syndrome

Multiple Angiomas And Endochondromas

Dyschondrodysplasia With Hemangiomas

Enchondromatosis Type Ii

Enchondromatosis With Multiple Cavernous Hemangiomas

Dyschondroplasia And Cavernous Hemangioma

Hemangiomata With Dyschondroplasia

Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic

Hematuria, Benign Familial

Benign Familial Hematuria

BFH

Thin Membrane Nephropathy

Tmn

Thin Basement Membrane Nephropathy

Thin-Basement-Membrane Nephropathy

Hematuria, Familial Benign

Hematuria Benign Familial

Hematuria, Benign, Familial

Thin Basement Membrane Disease

Enchondromatosis, Multiple, Ollier Type

Ollier Disease

Enchondromatosis

Dyschondroplasia

Osteochondromatosis

Multiple Cartilaginous Enchondroses

Multiple Enchondromatosis

Enchondromatosis With Haemangiomata

Enchondromatosis, Multiple

Kast'S Syndrome

Ollier'S Syndrome

Enchondromatosis Multiple

ENCHOM

Maffucci Disease

Olliers Disease

Hereditary Multiple Exostoses

Chondromatosis

Malignant Histiocytic Disease

Histiocytic Disorders, Malignant

Blood Platelet Disease

Platelet Disorder

Blood Platelet Disorders

Thrombocytopathy

Platelet Dysfunction

Platelet Disorders

Qualitative Platelet Deficiency

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia

B-Cell Chronic Lymphocytic Leukemia

CLL

B-Cell Chronic Lymphoid Leukemia

Chronic Lymphatic Leukemia

Chronic Lymphocytic Leukaemia

Lymphoplasmacytic Leukemia

Small Lymphocytic Lymphoma

Leukemia, Chronic Lymphatic

B-Cell Chronic Lymphocytic Leukaemia

Chronic Lymphatic Leukaemia

Lymphoplasmacytic Leukaemia

B Cell Chronic Lymphocytic Leukemia

Chronic B-Cell Lymphocytic Leukemia

Leukemia, Lymphocytic, Chronic

B-Cll

Chronic Lymphoid Leukemia

Leukemia Lymphocytic Chronic

Lymphoma Small Lymphocytic

Leukemia, Lymphocytic, Chronic, B-Cell

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris TET2 VGNC VGNC:47261
Mus musculus TET2 MGD MGI:2443298
Felis catus TET2 VGNC VGNC:66093
Bos taurus TET2 VGNC VGNC:35757
Rattus norvegicus TET2 RGD RGD:1311625
Macaca mulatta TET2 VGNC VGNC:100278