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Gene id

54790

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

TET2 Gene UCSC Ensembl

Aliases

KIAA1546, MDS

Gene name

tet methylcytosine dioxygenase 2

Alternate names

methylcytosine dioxygenase TET2, probable methylcytosine dioxygenase TET2, tet oncogene family member 2,

Gene location

4q24 (73982035: 74135393) Exons: 17 NC_000002.12

Gene summary(Entrez)

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]

OMIM

612839

Protein Summary

Protein general information

Q6N021

Name: Methylcytosine dioxygenase TET2 (EC 1.14.11.n2)

Length: 2002 Mass: 223,811

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

Sequence

MEQDRTNHVEGNRLSPFLIPSPPICQTEPLATKLQNGSPLPERAHPEVNGDTKWHSFKSYYGIPCMKGSQNSRVS
PDFTQESRGYSKCLQNGGIKRTVSEPSLSGLLQIKKLKQDQKANGERRNFGVSQERNPGESSQPNVSDLSDKKES
VSSVAQENAVKDFTSFSTHNCSGPENPELQILNEQEGKSANYHDKNIVLLKNKAVLMPNGATVSASSVEHTHGEL
LEKTLSQYYPDCVSIAVQKTTSHINAINSQATNELSCEITHPSHTSGQINSAQTSNSELPPKPAAVVSEACDADD
ADNASKLAAMLNTCSFQKPEQLQQQKSVFEICPSPAENNIQGTTKLASGEEFCSGSSSNLQAPGGSSERYLKQNE
MNGAYFKQSSVFTKDSFSATTTPPPPSQLLLSPPPPLPQVPQLPSEGKSTLNGGVLEEHHHYPNQSNTTLLREVK
IEGKPEAPPSQSPNPSTHVCSPSPMLSERPQNNCVNRNDIQTAGTMTVPLCSEKTRPMSEHLKHNPPIFGSSGEL
QDNCQQLMRNKEQEILKGRDKEQTRDLVPPTQHYLKPGWIELKAPRFHQAESHLKRNEASLPSILQYQPNLSNQM
TSKQYTGNSNMPGGLPRQAYTQKTTQLEHKSQMYQVEMNQGQSQGTVDQHLQFQKPSHQVHFSKTDHLPKAHVQS
LCGTRFHFQQRADSQTEKLMSPVLKQHLNQQASETEPFSNSHLLQHKPHKQAAQTQPSQSSHLPQNQQQQQKLQI
KNKEEILQTFPHPQSNNDQQREGSFFGQTKVEECFHGENQYSKSSEFETHNVQMGLEEVQNINRRNSPYSQTMKS
SACKIQVSCSNNTHLVSENKEQTTHPELFAGNKTQNLHHMQYFPNNVIPKQDLLHRCFQEQEQKSQQASVLQGYK
NRNQDMSGQQAAQLAQQRYLIHNHANVFPVPDQGGSHTQTPPQKDTQKHAALRWHLLQKQEQQQTQQPQTESCHS
QMHRPIKVEPGCKPHACMHTAPPENKTWKKVTKQENPPASCDNVQQKSIIETMEQHLKQFHAKSLFDHKALTLKS
QKQVKVEMSGPVTVLTRQTTAAELDSHTPALEQQTTSSEKTPTKRTAASVLNNFIESPSKLLDTPIKNLLDTPVK
TQYDFPSCRCVEQIIEKDEGPFYTHLGAGPNVAAIREIMEERFGQKGKAIRIERVIYTGKEGKSSQGCPIAKWVV
RRSSSEEKLLCLVRERAGHTCEAAVIVILILVWEGIPLSLADKLYSELTETLRKYGTLTNRRCALNEERTCACQG
LDPETCGASFSFGCSWSMYYNGCKFARSKIPRKFKLLGDDPKEEEKLESHLQNLSTLMAPTYKKLAPDAYNNQIE
YEHRAPECRLGLKEGRPFSGVTACLDFCAHAHRDLHNMQNGSTLVCTLTREDNREFGGKPEDEQLHVLPLYKVSD
VDEFGSVEAQEEKKRSGAIQVLSSFRRKVRMLAEPVKTCRQRKLEAKKAAAEKLSSLENSSNKNEKEKSAPSRTK
QTENASQAKQLAELLRLSGPVMQQSQQPQPLQKQPPQPQQQQRPQQQQPHHPQTESVNSYSASGSTNPYMRRPNP
VSPYPNSSHTSDIYGSTSPMNFYSTSSQAAGSYLNSSNPMNPYPGLLNQNTQYPSYQCNGNLSVDNCSPYLGSYS
PQSQPMDLYRYPSQDPLSKLSLPPIHTLYQPRFGNSQSFTSKYLGYGNQNMQGDGFSSCTIRPNVHHVGKLPPYP
THEMDGHFMGATSRLPPNLSNPNMDYKNGEHHSPSHIIHNYSAAPGMFNSSLHALHLQNKENDMLSHTANGLSKM
LPALNHDRTACVQGGLHKLSDANGQEKQPLALVQGVASGAEDNDEVWSDSEQSFLDPDIGGVAVAPTHGSILIEC
AKRELHATTPLKNPNRNHPTRISLVFYQHKSMNEPKHGLALWEAKMAEKAREKEEECEKYGPDYVPQKSHGKKVK
REPAEPHETSEPTYLRFIKSLAERTMSVTTDSTVTTSPYAFTRVTGPYNRYI

Structural information

Interpro:	IPR024779
Pfam:	PF12851
PDB:	4NM6 5D9Y 5DEU
PDBsum:	4NM6 5D9Y 5DEU
MINT:
STRING:	ENSP00000369351;

Other Databases

GeneCards: TET2; Malacards: TET2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001822	kidney development	IEA	biological_process
GO:0002318	myeloid progenitor cell d ifferentiation	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0006211	5-methylcytosine cataboli c process	IDA	biological_process
GO:0006493	protein O-linked glycosyl ation	IDA	biological_process
GO:0006493	protein O-linked glycosyl ation	IMP	biological_process
GO:0007049	cell cycle	IEA	biological_process
GO:0008198	ferrous iron binding	IDA	molecular_function
GO:0008270	zinc ion binding	IDA	molecular_function
GO:0009791	post-embryonic developmen t	IEA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0019858	cytosine metabolic proces s	IEA	biological_process
GO:0020027	hemoglobin metabolic proc ess	IEA	biological_process
GO:0030099	myeloid cell differentiat ion	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0048536	spleen development	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0061484	hematopoietic stem cell h omeostasis	IEA	biological_process
GO:0070579	methylcytosine dioxygenas e activity	ISS	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IMP	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IMP	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IDA	molecular_function
GO:0072576	liver morphogenesis	IEA	biological_process
GO:0080111	DNA demethylation	IDA	biological_process
GO:0080182	histone H3-K4 trimethylat ion	IMP	biological_process
GO:0001822	kidney development	IEA	biological_process
GO:0002318	myeloid progenitor cell d ifferentiation	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0006211	5-methylcytosine cataboli c process	IDA	biological_process
GO:0006493	protein O-linked glycosyl ation	IEA	biological_process
GO:0006493	protein O-linked glycosyl ation	IDA	biological_process
GO:0006493	protein O-linked glycosyl ation	IMP	biological_process
GO:0007049	cell cycle	IEA	biological_process
GO:0008198	ferrous iron binding	IDA	molecular_function
GO:0008270	zinc ion binding	IDA	molecular_function
GO:0009791	post-embryonic developmen t	IEA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0016491	oxidoreductase activity	IEA	molecular_function
GO:0016706	oxidoreductase activity, acting on paired donors, with incorporation or red uction of molecular oxyge n, 2-oxoglutarate as one donor, and incorporation of one atom each of oxyge n into both donors	IEA	molecular_function
GO:0019857	5-methylcytosine metaboli c process	IEA	biological_process
GO:0019858	cytosine metabolic proces s	IEA	biological_process
GO:0020027	hemoglobin metabolic proc ess	IEA	biological_process
GO:0030097	hemopoiesis	IEA	biological_process
GO:0030099	myeloid cell differentiat ion	IEA	biological_process
GO:0030099	myeloid cell differentiat ion	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0048536	spleen development	IEA	biological_process
GO:0048872	homeostasis of number of cells	IEA	biological_process
GO:0051213	dioxygenase activity	IEA	molecular_function
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0061484	hematopoietic stem cell h omeostasis	IEA	biological_process
GO:0070579	methylcytosine dioxygenas e activity	IEA	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	ISS	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IMP	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IMP	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IDA	molecular_function
GO:0072576	liver morphogenesis	IEA	biological_process
GO:0080111	DNA demethylation	IEA	biological_process
GO:0080111	DNA demethylation	IDA	biological_process
GO:0080182	histone H3-K4 trimethylat ion	IEA	biological_process
GO:0080182	histone H3-K4 trimethylat ion	IMP	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0006211	5-methylcytosine cataboli c process	IDA	biological_process
GO:0006493	protein O-linked glycosyl ation	IDA	biological_process
GO:0006493	protein O-linked glycosyl ation	IMP	biological_process
GO:0008198	ferrous iron binding	IDA	molecular_function
GO:0008270	zinc ion binding	IDA	molecular_function
GO:0030099	myeloid cell differentiat ion	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0070579	methylcytosine dioxygenas e activity	ISS	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IMP	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IMP	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IDA	molecular_function
GO:0080111	DNA demethylation	IDA	biological_process
GO:0080182	histone H3-K4 trimethylat ion	IMP	biological_process

Diseases

Associated diseases	References
Prostate cancer	GAD19767753
Polycythemia Vera	GAD19262601
Myeloproliferative disorders	GAD19609284
Myelodysplastic syndromes	GAD19666869
Mastocytosis	GAD19262599
Leukemia	GAD19797729
Myelodysplastic syndrome	OMIM614286
Endometriosis	PubMed26917261
Myelodysplastic syndrome	KEGGH01481
Peripheral T cell lymphoma	KEGGH01892

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26917261	Endometrio sis						Show abstract