17p13.3 (YWHAE) copy number variation (WP5376)

Homo sapiens

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The 17p13.3 deletion or duplication ranging from chr17:1250000 to chr17:1300000, affects YWHAE gene. The YWHAE gene plays a role in a lot of different processes and is closely related to many diseases.

Authors

Ninagerrekens , Alex Pico , Friederike Ehrhart , Kristina Hanspers , Javier Millán Acosta , Eric Weitz , and Egon Willighagen

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Pathway Ontology

disease pathway

Disease Ontology

Miller-Dieker lissencephaly syndrome

Participants
Query Drugst.One

Label Type Compact URI Comment
Tyrosine Metabolite chebi:18186
Dopamine Metabolite chebi:18243
Noradrenaline Metabolite chebi:33569
L-Dopa Metabolite chebi:15765
YWHAE GeneProduct ensembl:ENSG00000108953
DBH Protein uniprot:P09172
NDEL1 Protein uniprot:Q9GZM8 By binding to phosphorylated NUDEL, YWHAE prevents dephosphorylation of phosphorylated NUDEL by PP2A
YWHAE Protein uniprot:P62258
YWHAB Protein uniprot:P31946
CDK5 Protein uniprot:Q00535
AADC Protein uniprot:P20711
LIS1 Protein uniprot:P43034
TH Protein uniprot:P07101 tyrosine hydroxylase
DCTN1 Protein uniprot:Q14203
DISC1 Protein uniprot:Q9NRI5
DYNC1H1 Protein uniprot:Q14204
YWHAG Protein uniprot:P61981
YWHAH Protein uniprot:Q04917
YWHAZ Protein uniprot:P63104
YWHAQ Protein uniprot:P27348
PPP2CA Protein uniprot:P67775
DCTN2 Protein uniprot:Q13561
DCTN3 Protein uniprot:O75935
DCTN4 Protein uniprot:Q9UJW0
DCTN5 Protein uniprot:Q9BTE1
DCTN6 Protein uniprot:O00399

References

  1. Proportional release of norepinephrine and dopamine- -hydroxylase from sympathetic nerves. Weinshilboum RM, Thoa NB, Johnson DG, Kopin IJ, Axelrod J. Science. 1971 Dec 24;174(4016):1349–51. PubMed Europe PMC Scholia
  2. LIS1 and dynein motor function in neuronal migration and development. Wynshaw-Boris A, Gambello MJ. Genes Dev. 2001 Mar 15;15(6):639–51. PubMed Europe PMC Scholia
  3. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, et al. Nat Genet. 2003 Jul;34(3):274–85. PubMed Europe PMC Scholia
  4. Identification of YWHAE, a gene encoding 14-3-3epsilon, as a possible susceptibility gene for schizophrenia. Ikeda M, Hikita T, Taya S, Uraguchi-Asaki J, Toyo-oka K, Wynshaw-Boris A, et al. Hum Mol Genet. 2008 Oct 15;17(20):3212–22. PubMed Europe PMC Scholia
  5. Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies. Wynshaw-Boris A, Pramparo T, Youn YH, Hirotsune S. Semin Cell Dev Biol. 2010 Oct;21(8):823–30. PubMed Europe PMC Scholia
  6. DISC1-binding proteins in neural development, signalling and schizophrenia. Bradshaw NJ, Porteous DJ. Neuropharmacology. 2012 Mar;62(3):1230–41. PubMed Europe PMC Scholia
  7. Phosphorylation dependence and stoichiometry of the complex formed by tyrosine hydroxylase and 14-3-3γ. Kleppe R, Rosati S, Jorge-Finnigan A, Alvira S, Ghorbani S, Haavik J, et al. Mol Cell Proteomics. 2014 Aug;13(8):2017–30. PubMed Europe PMC Scholia
  8. Epistatic and gene wide effects in YWHA and aromatic amino hydroxylase genes across ADHD and other common neuropsychiatric disorders: Association with YWHAE. Jacobsen KK, Kleppe R, Johansson S, Zayats T, Haavik J. Am J Med Genet B Neuropsychiatr Genet. 2015 Sep;168(6):423–32. PubMed Europe PMC Scholia
  9. DISC1 Regulates Neurogenesis via Modulating Kinetochore Attachment of Ndel1/Nde1 during Mitosis. Ye F, Kang E, Yu C, Qian X, Jacob F, Yu C, et al. Neuron. 2017 Dec 6;96(5):1041-1054.e5. PubMed Europe PMC Scholia
  10. YWHAE promotes proliferation, metastasis, and chemoresistance in breast cancer cells. Yang YF, Lee YC, Wang YY, Wang CH, Hou MF, Yuan SSF. Kaohsiung J Med Sci. 2019 Jul;35(7):408–16. PubMed Europe PMC Scholia
  11. 14-3-3 proteins protect AMPK-phosphorylated ten-eleven translocation-2 (TET2) from PP2A-mediated dephosphorylation. Kundu A, Shelar S, Ghosh AP, Ballestas M, Kirkman R, Nam H, et al. J Biol Chem. 2020 Feb 7;295(6):1754–66. PubMed Europe PMC Scholia
  12. L-DOPA in Parkinson’s Disease: Looking at the “False” Neurotransmitters and Their Meaning. Chagraoui A, Boulain M, Juvin L, Anouar Y, Barrière G, Deurwaerdère PD. Int J Mol Sci. 2019 Dec 31;21(1):294. PubMed Europe PMC Scholia
  13. YWHAE as an HE4 interacting protein can influence the malignant behaviour of ovarian cancer by regulating the PI3K/AKT and MAPK pathways. Li X, Wang C, Wang S, Hu Y, Jin S, Liu O, et al. Cancer Cell Int. 2021 Jun 9;21(1):302. PubMed Europe PMC Scholia
  14. Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε). Liu X, Bennison SA, Robinson L, Toyo-Oka K. Brain Sci. 2021 Dec 30;12(1):56. PubMed Europe PMC Scholia
  15. Neuromelanin in Parkinson’s Disease: Tyrosine Hydroxylase and Tyrosinase. Nagatsu T, Nakashima A, Watanabe H, Ito S, Wakamatsu K. Int J Mol Sci. 2022 Apr 10;23(8):4176. PubMed Europe PMC Scholia