TLK2

Serine/threonine-protein kinase tousled-like 2 is an enzyme that in humans is encoded by the TLK2 gene.[5][6][7]

TLK2
Identifiers
AliasesTLK2, HsHPK, PKU-ALPHA, tousled like kinase 2, MRD57
External IDsOMIM: 608439 MGI: 1346023 HomoloGene: 4993 GeneCards: TLK2
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q23.2Start62,458,658 bp[1]
End62,615,481 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

11011

24086

Ensembl

ENSG00000146872

ENSMUSG00000020694

UniProt

Q86UE8

O55047

RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 17: 62.46 – 62.62 MbChr 11: 105.18 – 105.28 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

The Tousled-like kinases, first described in Arabidopsis, are nuclear serine/threonine kinases that are potentially involved in the regulation of chromatin assembly. These are different from other "tousled" varieties, such as flock-of-seagulls, post-coitus, or the-Sean-Bean.[supplied by OMIM][7]

Interactions

TLK2 has been shown to interact with TLK1,[6] ASF1B[8][9] and ASF1A.[9]

Clinical significance

Mutations in this gene have been linked to a specific form of autism spectrum disorder with unique facial features.[10] Amplifications of the nuclear localization sequence-encoding part of this gene have been linked to glioblastoma and lower-grade astrocytoma survival.[11]

References

  1. GRCh38: Ensembl release 89: ENSG00000146872 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000020694 - 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. Yamakawa A, Kameoka Y, Hashimoto K, Yoshitake Y, Nishikawa K, Tanihara K, Date T (Nov 1997). "cDNA cloning and chromosomal mapping of genes encoding novel protein kinases termed PKU-alpha and PKU-beta, which have nuclear localization signal". Gene. 202 (1–2): 193–201. doi:10.1016/S0378-1119(97)00495-2. PMID 9427565.
  6. Silljé HH, Takahashi K, Tanaka K, Van Houwe G, Nigg EA (Oct 1999). "Mammalian homologues of the plant Tousled gene code for cell-cycle-regulated kinases with maximal activities linked to ongoing DNA replication". The EMBO Journal. 18 (20): 5691–702. doi:10.1093/emboj/18.20.5691. PMC 1171636. PMID 10523312.
  7. "Entrez Gene: TLK2 tousled-like kinase 2".
  8. Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
  9. Silljé HH, Nigg EA (Jul 2001). "Identification of human Asf1 chromatin assembly factors as substrates of Tousled-like kinases". Current Biology. 11 (13): 1068–73. doi:10.1016/S0960-9822(01)00298-6. PMID 11470414. S2CID 8866062.
  10. Reijnders, Margot R.F.; Miller, Kerry A.; Alvi, Mohsan; Goos, Jacqueline A.C.; Lees, Melissa M.; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B.A.; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A.L.; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M.; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W.E.; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M.; Cremer, Kirsten; Strom, Tim M.; Bird, Lynne M.; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F.; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L.; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S.; Edery, Patrick; Yap, Patrick; Terhal, Paulien A.; van der Spek, Peter J.; Lakeman, Phillis; Taylor, Rachel L.; Littlejohn, Rebecca O.; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P.A.; Kant, Sarina G.; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M.A.; Douzgou, Sofia; Wall, Steven A.; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J.; Twigg, Stephen R.F.; Mathijssen, Irene M.J.; Nellaker, Christoffer; Brunner, Han G.; Wilkie, Andrew O.M. (2018). "De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder". The American Journal of Human Genetics. 102 (6): 1195–1203. doi:10.1016/j.ajhg.2018.04.014. ISSN 0002-9297. PMC 5992133. PMID 29861108.
  11. Ponnapalli S.P., et int.; Alter O. (May 2020). "Retrospective clinical trial experimentally validates glioblastoma genome-wide pattern of DNA copy-number alterations predictor of survival". APL Bioeng. 4 (2): 026106. doi:10.1063/1.5142559. PMID 32478280.

Further reading

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