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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (14 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs1227643933 RCV001291082
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple myeloma Likely pathogenic rs751524927 RCV000984091
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TET3 deficiency Likely pathogenic; Pathogenic rs1573906351, rs1573906389, rs1227643933, rs1572907595, rs1572907400, rs1573779765 RCV001257924
RCV001257925
RCV001257926
RCV001257928
RCV001257930
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aortic Diseases Aortic disease Pubtator 30574144 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 31252000
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31252000
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder CTD_human_DG 25290267
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic behavior Autism GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 25290267 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 31120187
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 30167849 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26207381
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 26207381, 39201247, 40230289 Associate
★☆☆☆☆
Found in Text Mining only