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] See more...

Aliases for TET3 Gene

Aliases for TET3 Gene

  • Tet Methylcytosine Dioxygenase 3 2 3 5
  • Methylcytosine Dioxygenase TET3 3 4
  • Tet Oncogene Family Member 3 2 3
  • Ten-Eleven Translocation 3 2 3
  • EC 1.14.11.n2 4 50
  • HCG_40738 2 3
  • Probable Methylcytosine Dioxygenase TET3 3
  • Putative Methylcytosine Dioxygenase 3
  • MGC22014 2
  • KIAA0401 4
  • BEFAHRS 3
  • TET3 5

External Ids for TET3 Gene

Previous GeneCards Identifiers for TET3 Gene

  • GC02P074127
  • GC02P074213
  • GC02P074009
  • GC02P074229

Summaries for TET3 Gene

Entrez Gene Summary for TET3 Gene

  • 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]

GeneCards Summary for TET3 Gene

TET3 (Tet Methylcytosine Dioxygenase 3) is a Protein Coding gene. Diseases associated with TET3 include Beck-Fahrner Syndrome and Miles-Carpenter Syndrome. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Cytosine methylation. Gene Ontology (GO) annotations related to this gene include methylcytosine dioxygenase activity. An important paralog of this gene is TET2.

UniProtKB/Swiss-Prot Summary for TET3 Gene

  • 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). Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation (By similarity). Selectively binds to the promoter region of target genes and contributes to regulate the expression of numerous developmental genes (PubMed:23217707). In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in DNA demethylation in the paternal pronucleus by mediating conversion of 5mC into 5hmC, 5fC and 5caC. Does not mediate DNA demethylation of maternal pronucleus because of the presence of DPPA3/PGC7 on maternal chromatin that prevents TET3-binding to chromatin (By similarity). In addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT (PubMed:23353889). Binds preferentially to DNA containing cytidine-phosphate-guanosine (CpG) dinucleotides over CpH (H=A, T, and C), hemimethylated-CpG and hemimethylated-hydroxymethyl-CpG (PubMed:29276034).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TET3 Gene

Genomics for TET3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TET3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J073987 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +2.6 2607 8.3 ZNF207 MYC NCOR1 IKZF1 ZNF600 SSRP1 ZNF592 POLR2A NFIC YY1 DGUOK-AS1 ENSG00000235499 HSALNG0016005 LOC107985898 TET3 CCDC142 TTC31 PCGF1 AUP1 ENSG00000273245
GH02J073892 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 -85.4 -85435 9.2 BCL11A EBF1 CBFB MAFK BHLHE40 SPI1 REST ZNF24 IKZF1 ZNF664 ACTG2 STAMBP DGUOK TET3 BOLA3 BOLA3-AS1 TPRKB HTRA2 MOB1A ALMS1-IT1
GH02J074035 Enhancer 1.1 ENCODE dbSUPER 12.7 +55.5 55485 3.4 NCOR1 IKZF1 NFIC REST HES1 ARNT IRF2 MAFF NBN NKRF TET3 BOLA3-AS1 BOLA3 ACTG2 ENSG00000217702 DGUOK-AS1 piR-61029-081
GH02J074030 Enhancer 1 ENCODE dbSUPER 12.2 +50.3 50342 3.8 BCLAF1 SP1 POLR2A SIN3A TRIM22 ARNT KLF9 TAL1 EBF1 CBFB TET3 FNBP1P1 DGUOK-AS1 piR-61029-081 BOLA3
GH02J074053 Enhancer 1 Ensembl ENCODE dbSUPER 11.8 +71.3 71265 2.6 ZNF217 CTBP1 MAFF ZNF316 EBF1 MAFK TCF7L2 MAFG IKZF1 NR2F1 TET3 DGUOK-AS1 BOLA3 BOLA3-AS1 ACTG2 FNBP1P1 piR-61029-081
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TET3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TET3

Top Transcription factor binding sites by QIAGEN in the TET3 gene promoter:
  • AML1a
  • Bach2
  • COMP1
  • HFH-1
  • HNF-4alpha1
  • HNF-4alpha2
  • RREB-1
  • STAT1

Genomic Locations for TET3 Gene

Latest Assembly
chr2:73,982,036-74,135,394
(GRCh38/hg38)
Size:
153,359 bases
Orientation:
Plus strand

Previous Assembly
chr2:74,212,037-74,335,303
(GRCh37/hg19 by Entrez Gene)
Size:
123,267 bases
Orientation:
Plus strand

chr2:74,229,840-74,335,303
(GRCh37/hg19 by Ensembl)
Size:
105,464 bases
Orientation:
Plus strand

Genomic View for TET3 Gene

Genes around TET3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TET3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TET3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TET3 Gene

Proteins for TET3 Gene

  • Protein details for TET3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43151-TET3_HUMAN
    Recommended name:
    Methylcytosine dioxygenase TET3
    Protein Accession:
    O43151
    Secondary Accessions:
    • A6NEI3
    • J3KNF3
    • K9JJH7
    • Q86Z24
    • Q8TBM9

    Protein attributes for TET3 Gene

    Size:
    1795 amino acids
    Molecular mass:
    193705 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with HCFC1 and OGT.
    SequenceCaution:
    • Sequence=AAH22243.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAO33386.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAX93057.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TET3 Gene

    Alternative splice isoforms for TET3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TET3 Gene

Selected DME Specific Peptides for TET3 Gene

O43151:
  • SLVFYQHK
  • GCPIAKWV
  • EEKLLCLVR

Post-translational modifications for TET3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for TET3 Gene

Gene Families for TET3 Gene

Protein Domains for TET3 Gene

Suggested Antigen Peptide Sequences for TET3 Gene

GenScript: Design optimal peptide antigens:
  • Methylcytosine dioxygenase TET3 (TET3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43151

UniProtKB/Swiss-Prot:

TET3_HUMAN :
  • The CXXC zinc finger mediates binding to CpG-DNA (PubMed:29276034). It mediates binding to DNA sequences containing unmethylated cytosine or 5-carboxylcytosine in 5'-CCG-3' DNA sequence motifs (By similarity).
  • Belongs to the TET family.
Domain:
  • The CXXC zinc finger mediates binding to CpG-DNA (PubMed:29276034). It mediates binding to DNA sequences containing unmethylated cytosine or 5-carboxylcytosine in 5'-CCG-3' DNA sequence motifs (By similarity).
Family:
  • Belongs to the TET family.
genes like me logo Genes that share domains with TET3: view

Function for TET3 Gene

Molecular function for TET3 Gene

UniProtKB/Swiss-Prot 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). Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation (By similarity). Selectively binds to the promoter region of target genes and contributes to regulate the expression of numerous developmental genes (PubMed:23217707). In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in DNA demethylation in the paternal pronucleus by mediating conversion of 5mC into 5hmC, 5fC and 5caC. Does not mediate DNA demethylation of maternal pronucleus because of the presence of DPPA3/PGC7 on maternal chromatin that prevents TET3-binding to chromatin (By similarity). In addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT (PubMed:23353889). Binds preferentially to DNA containing cytidine-phosphate-guanosine (CpG) dinucleotides over CpH (H=A, T, and C), hemimethylated-CpG and hemimethylated-hydroxymethyl-CpG (PubMed:29276034).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + a 5-methyl-2'-deoxycytidine in DNA + O2 = a 5-hydroxymethyl-2'-deoxycytidine in DNA + CO2 + succinate; Xref=Rhea:RHEA:52636, Rhea:RHEA-COMP:11370, Rhea:RHEA-COMP:13315, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:85454, ChEBI:CHEBI:136731; EC=1.14.11.n2; Evidence={ECO:0000269|PubMed:31928709};.

Enzyme Numbers (IUBMB) for TET3 Gene

Phenotypes From GWAS Catalog for TET3 Gene

Gene Ontology (GO) - Molecular Function for TET3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 23222540
GO:0008270 zinc ion binding IEA,IDA 29276034
GO:0008327 methyl-CpG binding IDA 29276034
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with TET3: view
genes like me logo Genes that share phenotypes with TET3: view

Human Phenotype Ontology for TET3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TET3 Gene

MGI Knock Outs for TET3:
  • Tet3 Tet3<tm1.2Gxu>

miRNA for TET3 Gene

miRTarBase miRNAs that target TET3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TET3

No data available for Transcription Factor Targets and HOMER Transcription for TET3 Gene

Localization for TET3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TET3 Gene

Nucleus. Cytoplasm. Chromosome. Note=At the zygotic stage, localizes in the male pronucleus, while it localizes to the cytoplasm at other preimplantation stages. Binds to the promoter of target genes, close to the transcription start site. {ECO:0000250 UniProtKB:Q8BG87}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TET3 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TET3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001939 female pronucleus IEA --
GO:0001940 male pronucleus IEA,ISS --
GO:0005634 nucleus IEA,IBA 21873635
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with TET3: view

Pathways & Interactions for TET3 Gene

genes like me logo Genes that share pathways with TET3: view

Pathways by source for TET3 Gene

SIGNOR curated interactions for TET3 Gene

Activates:

Gene Ontology (GO) - Biological Process for TET3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006211 5-methylcytosine catabolic process IEA --
GO:0006325 chromatin organization IEA --
GO:0006493 protein O-linked glycosylation IMP 23353889
GO:0007275 multicellular organism development IEA --
GO:0044727 DNA demethylation of male pronucleus IEA,ISS --
genes like me logo Genes that share ontologies with TET3: view

Drugs & Compounds for TET3 Gene

(3) Drugs for TET3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Succinic acid Approved Nutra 0
Oxogluric acid Experimental, Investigational Nutra 0
genes like me logo Genes that share compounds with TET3: view

Transcripts for TET3 Gene

mRNA/cDNA for TET3 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TET3

Alternative Splicing Database (ASD) splice patterns (SP) for TET3 Gene

No ASD Table

Relevant External Links for TET3 Gene

GeneLoc Exon Structure for
TET3

Expression for TET3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TET3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TET3 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x4.2) and Skin - Sun Exposed (Lower leg) (x4.1).

Protein differential expression in normal tissues from HIPED for TET3 Gene

This gene is overexpressed in Tlymphocyte (66.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TET3 Gene



Protein tissue co-expression partners for TET3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TET3

SOURCE GeneReport for Unigene cluster for TET3 Gene:

Hs.516107

mRNA Expression by UniProt/SwissProt for TET3 Gene:

O43151-TET3_HUMAN
Tissue specificity: Expressed in colon, muscle, adrenal gland and peripheral blood lymphocytes.

Evidence on tissue expression from TISSUES for TET3 Gene

  • Nervous system(4.5)
  • Intestine(4.4)
  • Skin(2.5)
  • Blood(2.3)
  • Bone marrow(2.2)
  • Liver(2.2)
  • Kidney(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with TET3: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TET3 Gene

Orthologs for TET3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TET3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TET3 29 30
  • 99.56 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TET3 29 30
  • 91.75 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC101904937 29
  • 91.62 (n)
TET3 30
  • 90 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TET3 30
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tet3 29
  • 87.95 (n)
Mouse
(Mus musculus)
Mammalia Tet3 29 16 30
  • 87.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TET3 30
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TET3 29 30
  • 70.88 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TET3 30
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tet3 29
  • 58.21 (n)
Str.17563 29
Zebrafish
(Danio rerio)
Actinopterygii LOC794865 29
  • 55.24 (n)
tet3 30
  • 48 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG43444 30
  • 10 (a)
OneToMany
Species where no ortholog for TET3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TET3 Gene

ENSEMBL:
Gene Tree for TET3 (if available)
TreeFam:
Gene Tree for TET3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TET3: view image
Alliance of Genome Resources:
Additional Orthologs for TET3

Paralogs for TET3 Gene

Paralogs for TET3 Gene

(2) SIMAP similar genes for TET3 Gene using alignment to 4 proteins:

  • TET3_HUMAN
  • J3KNF3_HUMAN
  • K9JJH7_HUMAN
  • L8EBE0_HUMAN
genes like me logo Genes that share paralogs with TET3: view

Variants for TET3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TET3 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1012945 Likely Pathogenic: not provided 74,087,881(+) C/G
NM_001287491.2(TET3):c.2731C>G (p.Arg911Gly)
MISSENSE
1029300 Uncertain Significance: Beck-Fahrner syndrome 74,046,654(+) G/A
NM_001287491.2(TET3):c.737G>A (p.Cys246Tyr)
MISSENSE
979030 Likely Pathogenic: TET3 deficiency 74,101,818(+) C/T
NM_001287491.2(TET3):c.5030C>T (p.Pro1677Leu)
MISSENSE
982383 Likely Pathogenic: Beck-Fahrner syndrome 74,087,868(+) C/A
NM_001287491.2(TET3):c.2718C>A (p.Cys906Ter)
NONSENSE
985641 Pathogenic: Inborn genetic diseases 74,048,150(+) CCT/C
NM_001287491.2(TET3):c.2234_2235del (p.Pro745fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TET3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TET3 Gene

Variant ID Type Subtype PubMed ID
esv1001756 CNV insertion 20482838
esv1018075 CNV insertion 17803354
esv1346659 CNV insertion 17803354
esv28348 CNV loss 19812545
esv3584956 CNV gain 24956385
esv3591276 CNV loss 21293372
esv3892681 CNV gain 25118596
nsv1011177 CNV gain 25217958
nsv2782 CNV insertion 18451855
nsv479007 CNV novel sequence insertion 20440878
nsv818048 CNV gain 17921354
nsv954227 CNV deletion 24416366

Variation tolerance for TET3 Gene

Residual Variation Intolerance Score: 3.79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.34; 63.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TET3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TET3
Leiden Open Variation Database (LOVD)
TET3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TET3 Gene

Disorders for TET3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TET3 Gene - From: OMI, CVR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
beck-fahrner syndrome
  • befahrs
miles-carpenter syndrome
  • mcs
plasma cell neoplasm
  • plasma cell dyscrasia
myeloma, multiple
  • multiple myeloma, susceptibility to
rett syndrome
  • rtt
- elite association - COSMIC cancer census association via MalaCards
Search TET3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TET3_HUMAN
  • Beck-Fahrner syndrome (BEFAHRS) [MIM:618798]: A developmental disorder characterized by mild to severe intellectual disability, global developmental delay, hypotonia, autistic traits, movement disorders, growth abnormalities including overgrowth or poor growth, and facial dysmorphism. Both autosomal dominant and autosomal recessive inheritance has been reported. {ECO:0000269 PubMed:31928709}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TET3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TET3: view

No data available for Genatlas for TET3 Gene

Publications for TET3 Gene

  1. Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. (PMID: 31928709) Beck DB … Fahrner JA (American journal of human genetics 2020) 3 4 72
  2. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
  3. DNA Sequence Recognition of Human CXXC Domains and Their Structural Determinants. (PMID: 29276034) Xu C … Min J (Structure (London, England : 1993) 2018) 3 4
  4. TET2 and TET3 regulate GlcNAcylation and H3K4 methylation through OGT and SET1/COMPASS. (PMID: 23353889) Deplus R … Fuks F (The EMBO journal 2013) 3 4
  5. TET2 promotes histone O-GlcNAcylation during gene transcription. (PMID: 23222540) Chen Q … Yu X (Nature 2013) 3 4

Products for TET3 Gene

Sources for TET3 Gene