Gene Gene information from NCBI Gene database.
Entrez ID 54790
Gene name Tet methylcytosine dioxygenase 2
Gene symbol TET2
Synonyms (NCBI Gene)
IMD75KIAA1546MDS
Chromosome 4
Chromosome location 4q24
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 myelop
miRNA miRNA information provided by mirtarbase database.
623
miRTarBase ID miRNA Experiments Reference
MIRT016981 hsa-miR-335-5p Microarray 18185580
MIRT049648 hsa-miR-92a-3p CLASH 23622248
MIRT042185 hsa-miR-484 CLASH 23622248
MIRT053224 hsa-miR-22-3p Luciferase reporter assayqRT-PCR 23830207
MIRT210981 hsa-miR-26a-5p Luciferase reporter assay 24114270
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0002521 Process Leukocyte differentiation IMP 32518946
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 23222540, 23353889, 25601757, 28514442, 29735542, 32814053, 33961781, 34667079
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612839 25941 ENSG00000168769
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6N021
Protein name Methylcytosine dioxygenase TET2 (EC 1.14.11.80)
Protein 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
PDB 4NM6 , 5D9Y , 5DEU , 7NE3 , 7NE6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12851 Tet_JBP 1290 1905 Oxygenase domain of the 2OGFeDO superfamily Domain
Tissue specificity 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. {ECO:0000269|PubMed
Sequence
MEQDRTNHVEGNRLSPFLIPSPPICQTEPLATKLQNGSPLPERAHPEVNGDTKWHSFKSY
YGIPCMKGSQNSRVSPDFTQESRGYSKCLQNGGIKRTVSEPSLSGLLQIKKLKQDQKANG
ERRNFGVSQERNPGESSQPNVSDLSDKKESVSSVAQENAVKDFTSFSTHNCSGPENPELQ
ILNEQEGKSANYHDKNIVLLKNKAVLMPNGATVSASSVEHTHGELLEKTLSQYYPDCVSI
AVQKTTSHINAINSQATNELSCEITHPSHTSGQINSAQTSNSELPPKPAAVVSEACDADD
ADNASKLAAMLNTCSFQKPEQLQQQKSVFEICPSPAENNIQGTTKLASGEEFCSGSSSNL
QAPGGSSERYLKQNEMNGAYFKQSSVFTKDSFSATTTPPPPSQLLLSPPPPLPQVPQLPS
EGKSTLNGGVLEEHHHYPNQSNTTLLREVKIEGKPEAPPSQSPNPSTHVCSPSPMLSERP
QNNCVNRNDIQTAGTMTVPLCSEKTRPMSEHLKHNPPIFGSSGELQDNCQQLMRNKEQEI
LKGRDKEQTRDLVPPTQHYLKPGWIELKAPRFHQAESHLKRNEASLPSILQYQPNLSNQM
TSKQYTGNSNMPGGLPRQAYTQKTTQLEHKSQMYQVEMNQGQSQGTVDQHLQFQKPSHQV
HFSKTDHLPKAHVQSLCGTRFHFQQRADSQTEKLMSPVLKQHLNQQASETEPFSNSHLLQ
HKPHKQAAQTQPSQSSHLPQNQQQQQKLQIKNKEEILQTFPHPQSNNDQQREGSFFGQTK
VEECFHGENQYSKSSEFETHNVQMGLEEVQNINRRNSPYSQTMKSSACKIQVSCSNNTHL
VSENKEQTTHPELFAGNKTQNLHHMQYFPNNVIPKQDLLHRCFQEQEQKSQQASVLQGYK
NRNQDMSGQQAAQLAQQRYLIHNHANVFPVPDQGGSHTQTPPQKDTQKHAALRWHLLQKQ
EQQQTQQPQTESCHSQMHRPIKVEPGCKPHACMHTAPPENKTWKKVTKQENPPASCDNVQ
QKSIIETMEQHLKQFHAKSLFDHKALTLKSQKQVKVEMSGPVTVLTRQTTAAELDSHTPA
LEQQTTSSEKTPTKRTAASVLNNFIESPSKLLDTPIKNLLDTPVKTQYDFPSCRCVEQII
EKDEGPFYTHLGAGPNVAAIREIMEERFGQKGKAIRIERVIYTGKEGKSSQGCPIAKWVV
RRSSSEEKLLCLVRERAGHTCEAAVIVILILVWEGIPLSLADKLYSELTETLRKYGTLTN
RRCALNEERTCACQGLDPETCGASFSFGCSWSMYYNGCKFARSKIPRKFKLLGDDPKEEE
KLESHLQNLSTLMAPTYKKLAPDAYNNQIEYEHRAPECRLGLKEGRPFSGVTACLDFCAH
AHRDLHNMQNGSTLVCTLTREDNREFGGKPEDEQLHVLPLYKVSDVDEFGSVEAQEEKKR
SGAIQVLSSFRRKVRMLAEPVKTCRQRKLEAKKAAAEKLSSLENSSNKNEKEKSAPSRTK
QTENASQAKQLAELLRLSGPVMQQSQQPQPLQKQPPQPQQQQRPQQQQPHHPQTESVNSY
SASGSTNPYMRRPNPVSPYPNSSHTSDIYGSTSPMNFYSTSSQAAGSYLNSSNPMNPYPG
LLNQNTQYPSYQCNGNLSVDNCSPYLGSYSPQSQPMDLYRYPSQDPLSKLSLPPIHTLYQ
PRFGNSQSFTSKYLGYGNQNMQGDGFSSCTIRPNVHHVGKLPPYPTHEMDGHFMGATSRL
PPNLSNPNMDYKNGEHHSPSHIIHNYSAAPGMFNSSLHALHLQNKENDMLSHTANGLSKM
LPALNHDRTACVQGGLHKLSDANGQEKQPLALVQGVASGAEDNDEVWSDSEQSFLDPDIG
GVAVAPTHGSILIECAKRELHATTPLKNPNRNHPTRISLVFYQHK
SMNEPKHGLALWEAK
MAEKAREKEEECEKYGPDYVPQKSHGKKVKREPAEPHETSEPTYLRFIKSLAERTMSVTT
DSTVTTSPYAFTRVTGPYNRYI
Sequence length 2002
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
95
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Angioimmunoblastic T-cell lymphoma Pathogenic rs1352258641, rs1245041497 RCV003447637
RCV003447657
Clonal hematopoiesis Pathogenic rs2476537310 RCV003126394
EBV-positive nodal T- and NK-cell lymphoma Likely pathogenic; Pathogenic rs772634266, rs575928986, rs1242089483, rs2476493944, rs2476750584, rs1730329392, rs1728692644, rs1729381211, rs2110232389, rs1322900367, rs2476498425, rs572712965, rs2476480900, rs2110315013, rs771408533
View all (2 more)
RCV004557990
RCV004557991
RCV004557992
RCV004557993
RCV004557994
RCV004557995
RCV004557996
RCV004557997
RCV004557999
RCV004558000
RCV004558001
RCV004558003
RCV004558004
RCV004558005
RCV004558006
RCV004558007
RCV004558008
Immunodeficiency 75 Likely pathogenic rs2476498043, rs1242089483 RCV003150599
RCV005036827
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atypical chronic myeloid leukemia, BCR-ABL1 negative Uncertain significance rs116519313, rs771761785 RCV003232849
RCV003232904
Familial cancer of breast Likely benign; Uncertain significance rs748776247, rs869025296 RCV005932093
RCV000207332
Neoplasm Uncertain significance rs765803723 RCV005233035
Nephroblastoma other rs1553918194 RCV000505569
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Accessory Nerve Injuries Associate 35892263
Adenocarcinoma of Lung Associate 37667220
Aging Premature Associate 34210413
Anemia Associate 32243522
Anemia Stimulate 38225226
Anemia Aplastic Associate 34587721, 37087521
Anemia Macrocytic Associate 35126364
Anemia Refractory Associate 26874914
Aneurysm Associate 39382597
Aortic Valve Stenosis Associate 31504400, 32639511, 36680616