• Gene id: 54790

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 (105145874: 105279802)     Exons: 15     NC_000004.12
• 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 myelop
• OMIM: 610622

Protein Summary

• Protein general information: Q6N021  
  • Name: Methylcytosine dioxygenase TET2 (EC 1.14.11.n2)
  • Length: 2002  
  • Mass: 223811
  • 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  IPR040175  
  • PDB: 4NM6 5D9Y 5DEU
  • PDBsum: 4NM6 5D9Y 5DEU
  • STRING: ENSP00000442788
• Other Databases: GeneCards:  TET2  Malacards:  TET2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070579	methylcytosine dioxygenase activity	IBA	molecular function
GO:0030099	myeloid cell differentiation	IBA	biological process
GO:0080111	DNA demethylation	IBA	biological process
GO:0070989	oxidative demethylation	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0070579	methylcytosine dioxygenase activity	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0080111	DNA demethylation	IDA	biological process
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0006493	protein O-linked glycosylation	IDA	biological process
GO:0006211	5-methylcytosine catabolic process	IDA	biological process
GO:0080182	histone H3-K4 trimethylation	IMP	biological process
GO:0070579	methylcytosine dioxygenase activity	IMP	molecular function
GO:0070579	methylcytosine dioxygenase activity	IMP	molecular function
GO:0070579	methylcytosine dioxygenase activity	ISS	molecular function
GO:0030099	myeloid cell differentiation	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0006493	protein O-linked glycosylation	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:0070579	methylcytosine dioxygenase activity	IEA	molecular function
GO:0006211	5-methylcytosine catabolic process	IEA	biological process
GO:0080111	DNA demethylation	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0051213	dioxygenase activity	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:0014070	response to organic cyclic compound	IEA	biological process

Diseases

Associated diseases	References
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Chronic myelomonocytic leukemia	KEGG:H02411
Myelodysplastic syndrome	KEGG:H01481
Atypical chronic myeloid leukemia	KEGG:H02412
Peripheral T cell lymphoma	KEGG:H01892
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Chronic myelomonocytic leukemia	KEGG:H02411
Myelodysplastic syndrome	KEGG:H01481
Atypical chronic myeloid leukemia	KEGG:H02412
Peripheral T cell lymphoma	KEGG:H01892
Myelodysplastic syndrome	PMID:23099237
chronic myelomonocytic leukemia	PMID:20693430
Myeloproliferative neoplasm	PMID:19564637
acute myeloid leukemia	PMID:25200248
acute myeloid leukemia	PMID:23389918
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881