Gene Gene information from NCBI Gene database.
Entrez ID 200424
Gene name Tet methylcytosine dioxygenase 3
Gene symbol TET3
Synonyms (NCBI Gene)
BEFAHRShCG_40738
Chromosome 2
Chromosome location 2p13.1
Summary 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]
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs534089911 C>A,T Pathogenic Missense variant, intron variant, coding sequence variant
rs751524927 G>A Likely-pathogenic Intron variant, coding sequence variant, missense variant
rs1174857008 G>A,C Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs1227643933 G>A,T Pathogenic Missense variant, coding sequence variant
rs1572907400 CCACGGC>- Pathogenic Coding sequence variant, frameshift variant, genic downstream transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
1898
miRTarBase ID miRNA Experiments Reference
MIRT016232 hsa-miR-548b-3p Sequencing 20371350
MIRT027815 hsa-miR-98-5p Microarray 19088304
MIRT030262 hsa-miR-26b-5p Sequencing 20371350
MIRT207248 hsa-miR-29a-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 23820384
MIRT207248 hsa-miR-29a-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 23820384
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 23217707
GO:0001939 Component Female pronucleus IEA
GO:0001940 Component Male pronucleus IEA
GO:0001940 Component Male pronucleus ISS
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613555 28313 ENSG00000187605
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43151
Protein name Methylcytosine dioxygenase TET3 (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 epigenetic chromatin reprogramming in the zygote following fertilization (PubMed:31928709).
PDB 4Z3C , 8U2Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12851 Tet_JBP 850 1562 Oxygenase domain of the 2OGFeDO superfamily Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in colon, muscle, adrenal gland and peripheral blood lymphocytes. {ECO:0000269|PubMed:12646957}.
Sequence
MSQFQVPLAVQPDLPGLYDFPQRQVMVGSFPGSGLSMAGSESQLRGGGDGRKKRKRCGTC
EPCRRLENCGACTSCTNRRTHQICKLRKCEVLKKKVGLLKEVEIKAGEGAGPWGQGAAVK
TGSELSPVDGPVPGQMDSGPVYHGDSRQLSASGVPVNGAREPAGPSLLGTGGPWRVDQKP
DWEAAPGPAHTARLEDAHDLVAFSAVAEAVSSYGALSTRLYETFNREMSREAGNNSRGPR
PGPEGCSAGSEDLDTLQTALALARHGMKPPNCNCDGPECPDYLEWLEGKIKSVVMEGGEE
RPRLPGPLPPGEAGLPAPSTRPLLSSEVPQISPQEGLPLSQSALSIAKEKNISLQTAIAI
EALTQLSSALPQPSHSTPQASCPLPEALSPPAPFRSPQSYLRAPSWPVVPPEEHSSFAPD
SSAFPPATPRTEFPEAWGTDTPPATPRSSWPMPRPSPDPMAELEQLLGSASDYIQSVFKR
PEALPTKPKVKVEAPSSSPAPAPSPVLQREAPTPSSEPDTHQKAQTALQQHLHHKRSLFL
EQVHDTSFPAPSEPSAPGWWPPPSSPVPRLPDRPPKEKKKKLPTPAGGPVGTEKAAPGIK
PSVRKPIQIKKSRPREAQPLFPPVRQIVLEGLRSPASQEVQAHPPAPLPASQGSAVPLPP
EPSLALFAPSPSRDSLLPPTQEMRSPSPMTALQPGSTGPLPPADDKLEELIRQFEAEFGD
SFGLPGPPSVPIQDPENQQTCLPAPESPFATRSPKQIKIESSGAVTVLSTTCFHSEEGGQ
EATPTKAENPLTPTLSGFLESPLKYLDTPTKSLLDTPAKRAQAEFPTCDCVEQIVEKDEG
PYYTHLGSGPTVASIRELMEERYGEKGKAIRIEKVIYTGKEGKSSRGCPIAKWVIRRHTL
EEKLLCLVRHRAGHHCQNAVIVILILAWEGIPRSLGDTLYQELTDTLRKYGNPTSRRCGL
NDDRTCACQGKDPNTCGASFSFGCSWSMYFNGCKYARSKTPRKFRLAGDNPKEEEVLRKS
FQDLATEVAPLYKRLAPQAYQNQVTNEEIAIDCRLGLKEGRPFAGVTACMDFCAHAHKDQ
HNLYNGCTVVCTLTKEDNRCVGKIPEDEQLHVLPLYKMANTDEFGSEENQNAKVGSGAIQ
VLTAFPREVRRLPEPAKSCRQRQLEARKAAAEKKKIQKEKLSTPEKIKQEALELAGITSD
PGLSLKGGLSQQGLKPSLKVEPQNHFSSFKYSGNAVVESYSVLGNCRPSDPYSMNSVYSY
HSYYAQPSLTSVNGFHSKYALPSFSYYGFPSSNPVFPSQFLGPGAWGHSGSSGSFEKKPD
LHALHNSLSPAYGGAEFAELPSQAVPTDAHHPTPHHQQPAYPGPKEYLLPKAPLLHSVSR
DPSPFAQSSNCYNRSIKQEPVDPLTQAEPVPRDAGKMGKTPLSEVSQNGGPSHLWGQYSG
GPSMSPKRTNGVGGSWGVFSSGESPAIVPDKLSSFGASCLAPSHFTDGQWGLFPGEGQQA
ASHSGGRLRGKPWSPCKFGNSTSALAGPSLTEKPWALGAGDFNSALKGSPGFQDKLWNPM
KG
EEGRIPAAGASQLDRAWQSFGLPLGSSEKLFGALKSEEKLWDPFSLEEGPAEEPPSKG
AVKEEKGGGGAEEEEEELWSDSEHNFLDENIGGVAVAPAHGSILIECARRELHATTPLKK
PNRCHPTRISLVFYQHKNLNQPNHGLALWEAKMKQLAERARARQEEAARLGLGQQEAKLY
GKKRKWGGTVVAEPQQKEKKGVVPTRQALAVPTDSAVTVSSYAYTKVTGPYSRWI
Sequence length 1795
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
161
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Beck-Fahrner syndrome Likely pathogenic; Pathogenic rs2104214893, rs2103698244, rs2104198321, rs2467684945, rs2467657005, rs2467686025, rs2528198828, rs2467635315, rs2467623019, rs2467434544, rs2467442575, rs2467441966, rs1573906351, rs1573906389, rs1227643933
View all (4 more)
RCV001754547
RCV001775324
RCV002221950
RCV002289323
RCV002291199
RCV004700762
RCV003314420
RCV003885412
RCV003988701
RCV003991315
RCV004556031
RCV004584280
RCV001007567
RCV001007568
RCV001007569
RCV001007571
RCV001007572
RCV001007573
RCV001261957
Intellectual disability Likely pathogenic; Pathogenic rs1227643933 RCV001291082
Multiple myeloma Likely pathogenic rs751524927 RCV000984091
TET3 deficiency Likely pathogenic; Pathogenic rs1573906351, rs1573906389, rs1227643933, rs1572907595, rs1572907400, rs1573779765 RCV001257924
RCV001257925
RCV001257926
RCV001257928
RCV001257930
RCV001257931
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Likely benign rs1690251186 RCV003127244
Neurodevelopmental disorder Uncertain significance rs2104237905 RCV001780048
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities Uncertain significance rs2528201575 RCV003327348
See cases Uncertain significance rs780444047 RCV003232951
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
ACTH Secreting Pituitary Adenoma Associate 31352437
Aortic Diseases Associate 30574144
Autistic Disorder Associate 25290267
Brain Diseases Associate 30167849
Breast Neoplasms Associate 26207381, 39201247, 40230289
Carcinoma Hepatocellular Associate 35651922
Carcinoma Non Small Cell Lung Associate 36593050
Chemical and Drug Induced Liver Injury Associate 25550811
Colorectal Neoplasms Inhibit 25557833
Diabetes Mellitus Type 2 Inhibit 30574144