• Gene id: 200424

Gene Summary

• Gene Symbol: TET3   Gene   UCSC   Ensembl
• Aliases: BEFAHRS, hCG_40738
• Gene name: tet methylcytosine dioxygenase 3
• Alternate names: methylcytosine dioxygenase TET3, probable methylcytosine dioxygenase TET3, putative methylcytosine dioxygenase, tet oncogene family member 3,
• Gene location: 2p13.1 (73982035: 74135393)     Exons: 17     NC_000002.12
• Gene summary(Entrez): Members of the ten-eleven translocation (TET) gene family, including TET3, play a role in the DNA methylation process (Langemeijer et al., 2009 [PubMed 19923888]).[supplied by OMIM, Nov 2010]
• OMIM: 613555

Protein Summary

• Protein general information: O43151  
  • Name: Methylcytosine dioxygenase TET3 (EC 1.14.11.n2)
  • Length: 1795  
  • Mass: 193705
  • Tissue specificity: Expressed in colon, muscle, adrenal gland and peripheral blood lymphocytes. {ECO
• Sequence:

  MSQFQVPLAVQPDLPGLYDFPQRQVMVGSFPGSGLSMAGSESQLRGGGDGRKKRKRCGTCEPCRRLENCGACTSC
  TNRRTHQICKLRKCEVLKKKVGLLKEVEIKAGEGAGPWGQGAAVKTGSELSPVDGPVPGQMDSGPVYHGDSRQLS
  ASGVPVNGAREPAGPSLLGTGGPWRVDQKPDWEAAPGPAHTARLEDAHDLVAFSAVAEAVSSYGALSTRLYETFN
  REMSREAGNNSRGPRPGPEGCSAGSEDLDTLQTALALARHGMKPPNCNCDGPECPDYLEWLEGKIKSVVMEGGEE
  RPRLPGPLPPGEAGLPAPSTRPLLSSEVPQISPQEGLPLSQSALSIAKEKNISLQTAIAIEALTQLSSALPQPSH
  STPQASCPLPEALSPPAPFRSPQSYLRAPSWPVVPPEEHSSFAPDSSAFPPATPRTEFPEAWGTDTPPATPRSSW
  PMPRPSPDPMAELEQLLGSASDYIQSVFKRPEALPTKPKVKVEAPSSSPAPAPSPVLQREAPTPSSEPDTHQKAQ
  TALQQHLHHKRSLFLEQVHDTSFPAPSEPSAPGWWPPPSSPVPRLPDRPPKEKKKKLPTPAGGPVGTEKAAPGIK
  PSVRKPIQIKKSRPREAQPLFPPVRQIVLEGLRSPASQEVQAHPPAPLPASQGSAVPLPPEPSLALFAPSPSRDS
  LLPPTQEMRSPSPMTALQPGSTGPLPPADDKLEELIRQFEAEFGDSFGLPGPPSVPIQDPENQQTCLPAPESPFA
  TRSPKQIKIESSGAVTVLSTTCFHSEEGGQEATPTKAENPLTPTLSGFLESPLKYLDTPTKSLLDTPAKRAQAEF
  PTCDCVEQIVEKDEGPYYTHLGSGPTVASIRELMEERYGEKGKAIRIEKVIYTGKEGKSSRGCPIAKWVIRRHTL
  EEKLLCLVRHRAGHHCQNAVIVILILAWEGIPRSLGDTLYQELTDTLRKYGNPTSRRCGLNDDRTCACQGKDPNT
  CGASFSFGCSWSMYFNGCKYARSKTPRKFRLAGDNPKEEEVLRKSFQDLATEVAPLYKRLAPQAYQNQVTNEEIA
  IDCRLGLKEGRPFAGVTACMDFCAHAHKDQHNLYNGCTVVCTLTKEDNRCVGKIPEDEQLHVLPLYKMANTDEFG
  SEENQNAKVGSGAIQVLTAFPREVRRLPEPAKSCRQRQLEARKAAAEKKKIQKEKLSTPEKIKQEALELAGITSD
  PGLSLKGGLSQQGLKPSLKVEPQNHFSSFKYSGNAVVESYSVLGNCRPSDPYSMNSVYSYHSYYAQPSLTSVNGF
  HSKYALPSFSYYGFPSSNPVFPSQFLGPGAWGHSGSSGSFEKKPDLHALHNSLSPAYGGAEFAELPSQAVPTDAH
  HPTPHHQQPAYPGPKEYLLPKAPLLHSVSRDPSPFAQSSNCYNRSIKQEPVDPLTQAEPVPRDAGKMGKTPLSEV
  SQNGGPSHLWGQYSGGPSMSPKRTNGVGGSWGVFSSGESPAIVPDKLSSFGASCLAPSHFTDGQWGLFPGEGQQA
  ASHSGGRLRGKPWSPCKFGNSTSALAGPSLTEKPWALGAGDFNSALKGSPGFQDKLWNPMKGEEGRIPAAGASQL
  DRAWQSFGLPLGSSEKLFGALKSEEKLWDPFSLEEGPAEEPPSKGAVKEEKGGGGAEEEEEELWSDSEHNFLDEN
  IGGVAVAPAHGSILIECARRELHATTPLKKPNRCHPTRISLVFYQHKNLNQPNHGLALWEAKMKQLAERARARQE
  EAARLGLGQQEAKLYGKKRKWGGTVVAEPQQKEKKGVVPTRQALAVPTDSAVTVSSYAYTKVTGPYSRWI

• Structural information:
  • Interpro: IPR024779  IPR040175  IPR002857  
  • Prosite: PS51058
  • PDB: 4Z3C
  • PDBsum: 4Z3C
  • STRING: ENSP00000386869
• Other Databases: GeneCards:  TET3  Malacards:  TET3

Gene ontology

GO accession	Term name	Evidence code	Go category
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	IBA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0008327	methyl-CpG binding	IDA	molecular function
GO:0080182	histone H3-K4 trimethylation	IMP	biological process
GO:0070579	methylcytosine dioxygenase activity	ISS	molecular function
GO:0044727	DNA demethylation of male pronucleus	ISS	biological process
GO:0080111	DNA demethylation	ISS	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:0005737	cytoplasm	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001940	male pronucleus	ISS	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0070579	methylcytosine dioxygenase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006211	5-methylcytosine catabolic process	IEA	biological process
GO:0080111	DNA demethylation	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001939	female pronucleus	IEA	cellular component
GO:0001940	male pronucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0080111	DNA demethylation	IEA	biological process
GO:0044727	DNA demethylation of male pronucleus	IEA	biological process
GO:0070579	methylcytosine dioxygenase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq