Tet methylcytosine dioxygenase 3

Tet methylcytosine dioxygenase 3 is a protein that in humans is encoded by the TET3 gene. [5]

TET3
Identifiers
Aliases	TET3, hCG_40738, tet methylcytosine dioxygenase 3, BEFAHRS
External IDs	OMIM: 613555 MGI: 2446229 HomoloGene: 35360 GeneCards: TET3
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p13.1 Start 73,986,404 bp[1] End 74,108,176 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 C3 Start 83,362,373 bp[2] End 83,459,084 bp[2]
Gene ontology Molecular function • DNA binding • dioxygenase activity • metal ion binding • GO:0001948 protein binding • oxidoreductase activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific • methylcytosine dioxygenase activity • iron ion binding Cellular component • cytoplasm • cell nucleus • chromosome • female pronucleus • male pronucleus Biological process • histone H3-K4 trimethylation • protein O-linked glycosylation • multicellular organism development • oxidation-reduction process • positive regulation of transcription from RNA polymerase II promoter • chromatin organization • DNA demethylation of male pronucleus • DNA demethylation • 5-methylcytosine catabolic process • oxidative demethylation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	200424	194388
Ensembl	ENSG00000187605	ENSMUSG00000034832
UniProt	O43151	Q8BG87
RefSeq (mRNA)	NM_001287491 NM_001366022	NM_183138 NM_001347313
RefSeq (protein)	NP_001274420 NP_001352951	NP_001334242 NP_898961
Location (UCSC)	Chr 2: 73.99 – 74.11 Mb	Chr 6: 83.36 – 83.46 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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].

Clinical

Mutations in this gene have been associated a number of abnormal phenotypic features including intellectual disability, developmental delay, hypotonia, autistic traits, movement disorders, growth abnormalities and facial dysmorphism.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000187605 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034832 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Tet methylcytosine dioxygenase 3". Retrieved 2018-08-13.
6. Beck DB, Petracovici A, He C, Moore HW4, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA (2020) Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. Am J Hum Genet

Further reading

• Abdel-Wahab O, Mullally A, Hedvat C, Garcia-Manero G, Patel J, Wadleigh M, Malinge S, Yao J, Kilpivaara O, Bhat R, Huberman K, Thomas S, Dolgalev I, Heguy A, Paietta E, Le Beau MM, Beran M, Tallman MS, Ebert BL, Kantarjian HM, Stone RM, Gilliland DG, Crispino JD, Levine RL (July 2009). "Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies". Blood. 114 (1): 144–7. doi:10.1182/blood-2009-03-210039. PMC 2710942. PMID 19420352.
• Abdel-Wahab O, Mullally A, Hedvat C, Garcia-Manero G, Patel J, Wadleigh M, Malinge S, Yao J, Kilpivaara O, Bhat R, Huberman K, Thomas S, Dolgalev I, Heguy A, Paietta E, Le Beau MM, Beran M, Tallman MS, Ebert BL, Kantarjian HM, Stone RM, Gilliland DG, Crispino JD, Levine RL (July 2009). "Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies". Blood. 114 (1): 144–7. doi:10.1182/blood-2009-03-210039. PMC 2710942. PMID 19420352.
• Langemeijer SM, Aslanyan MG, Jansen JH (December 2009). "TET proteins in malignant hematopoiesis". Cell Cycle. 8 (24): 4044–8. doi:10.4161/cc.8.24.10239. PMID 19923888.
• Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
• Liu N, Wang M, Deng W, Schmidt CS, Qin W, Leonhardt H, Spada F (2013). "Intrinsic and extrinsic connections of Tet3 dioxygenase with CXXC zinc finger modules". PLoS ONE. 8 (5): e62755. doi:10.1371/journal.pone.0062755. PMC 3653909. PMID 23690950.
• Ponnaluri VK, Maciejewski JP, Mukherji M (June 2013). "A mechanistic overview of TET-mediated 5-methylcytosine oxidation". Biochem. Biophys. Res. Commun. 436 (2): 115–20. doi:10.1016/j.bbrc.2013.05.077. PMID 23727577.
• Zhang P, Huang B, Xu X, Sessa WC (August 2013). "Ten-eleven translocation (Tet) and thymine DNA glycosylase (TDG), components of the demethylation pathway, are direct targets of miRNA-29a". Biochem. Biophys. Res. Commun. 437 (3): 368–73. doi:10.1016/j.bbrc.2013.06.082. PMC 3767426. PMID 23820384.
• Ito R, Katsura S, Shimada H, Tsuchiya H, Hada M, Okumura T, Sugawara A, Yokoyama A (January 2014). "TET3-OGT interaction increases the stability and the presence of OGT in chromatin". Genes Cells. 19 (1): 52–65. doi:10.1111/gtc.12107. PMID 24304661.
• Zhang Q, Liu X, Gao W, Li P, Hou J, Li J, Wong J (February 2014). "Differential regulation of the ten-eleven translocation (TET) family of dioxygenases by O-linked β-N-acetylglucosamine transferase (OGT)". J. Biol. Chem. 289 (9): 5986–96. doi:10.1074/jbc.M113.524140. PMC 3937666. PMID 24394411.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.