Prader-Willi and Angelman syndrome (WP3998)
Prader-Willi syndrome
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last edited

Authors

Kelly Janssen , Martina Summer-Kutmon , Friederike Ehrhart , Maintenance bot , Susan Coort , Egon Willighagen , Denise Slenter , Alex Pico , Anders Riutta , Kristina Hanspers , Eric Weitz , Finterly Hu , and Lars Willighagen

Cited In

Organism

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Pathway Ontology: disease pathway

Disease Ontology: Prader-Willi syndrome Angelman syndrome

Participants

Label Type Compact Identifier
L-dopaquinone Metabolite chebi:16852
L-tyrosine Metabolite chebi:58315
Ca2+ Metabolite chebi:29108
UBE2N GeneProduct ensembl:ENSG00000177889
RNF8 GeneProduct ensembl:ENSG00000112130
SLC45A2 GeneProduct ensembl:ENSG00000164175
GABA(A) receptorsubunit delta GeneProduct ensembl:ENSG00000187730
HERC2 GeneProduct ensembl:ENSG00000128731
LHB GeneProduct uniprot:P01229
MDM4 GeneProduct uniprot:O15151
ARF GeneProduct uniprot:Q8N726
FSHB GeneProduct uniprot:P01225
GABA(A) receptor subunit beta-3 GeneProduct uniprot:P28472
CDC6 GeneProduct uniprot:Q99741
CGA GeneProduct uniprot:P01215
MDM2 GeneProduct uniprot:Q00987
GABA(A) receptor subunit alpha-5 GeneProduct uniprot:P31644
IPW GeneProduct ncbigene:3653
SNORD116@ GeneProduct ncbigene:692236
MAGEL2 GeneProduct ensembl:ENSG00000254585
CYFIP1 GeneProduct ensembl:ENSG00000273749
GABRA5 GeneProduct ensembl:ENSG00000186297
GABRB3 GeneProduct ensembl:ENSG00000166206
PCSK1 GeneProduct ensembl:ENSG00000175426
TUBGCP5 GeneProduct ensembl:ENSG00000275835
NHLH2 GeneProduct ensembl:ENSG00000177551
GABRG3 GeneProduct ensembl:ENSG00000182256
SNORD115@ GeneProduct ncbigene:692218
NIPA2 GeneProduct ensembl:ENSG00000140157
NIPA1 GeneProduct ensembl:ENSG00000170113
ATP10A GeneProduct ensembl:ENSG00000206190
SNORD107 GeneProduct ensembl:ENSG00000276314
SNURF GeneProduct ensembl:ENSG00000273173
PWRN1 GeneProduct ensembl:ENSG00000259905
SNRPN GeneProduct ensembl:ENSG00000128739
NDN GeneProduct ensembl:ENSG00000182636
UBE3A GeneProduct ensembl:ENSG00000114062
MKRN3 GeneProduct ensembl:ENSG00000179455
NPAP1 GeneProduct ensembl:ENSG00000185823
SNORD64 GeneProduct ensembl:ENSG00000276610
SNORD109A GeneProduct ensembl:ENSG00000274640
SNORD109B GeneProduct ensembl:ENSG00000239169
SNURF-SNRPN GeneProduct ensembl:ENSG00000128739
PCSK1 GeneProduct ensembl:ENSG00000175426
CGA GeneProduct uniprot:P01215
E2F1 GeneProduct ensembl:ENSG00000101412
UBE3A GeneProduct ensembl:ENSG00000114062
E2F1 GeneProduct ensembl:ENSG00000101412
OCA2 GeneProduct ensembl:ENSG00000104044
MSX1 GeneProduct ensembl:ENSG00000163132
DLX5 GeneProduct ensembl:ENSG00000105880
MAGEL2 GeneProduct ensembl:ENSG00000254585
NDN GeneProduct ensembl:ENSG00000182636
PCM1 GeneProduct ensembl:ENSG00000078674
FEZ1 GeneProduct ensembl:ENSG00000149557
BBS4 GeneProduct ensembl:ENSG00000140463
NGF GeneProduct ensembl:ENSG00000134259
FEZ1 GeneProduct ensembl:ENSG00000149557
PRKCZ GeneProduct ensembl:ENSG00000067606
BBS4 GeneProduct ensembl:ENSG00000140463
HTR2C GeneProduct ensembl:ENSG00000147246
GABRR1 GeneProduct ncbigene:2569
GABRR2 GeneProduct ncbigene:2570
GABRR3 GeneProduct ncbigene:200959
HTR2C Protein ensembl:ENSG00000147246
CCND1 Protein uniprot:P24385
CCND2 Protein uniprot:P30279
RB1 Protein uniprot:P06400
p16-INK4a Protein uniprot:P42771
CDKN2B Protein uniprot:P42772
NK3R Protein uniprot:P29371
KISS1 Protein uniprot:Q15726
P-protein Protein uniprot:Q04671
Tyrosinase Protein uniprot:P14679
p53 Protein uniprot:P04637
CDK4 Protein uniprot:P11802
NKB Protein uniprot:Q2UVB8
GHRH (1-108) Protein uniprot:P01286
GHRH (32-75) Protein uniprot:P01286
Insulin (25-110) Protein uniprot:P01308
POMC (1-241) Protein uniprot:P01189
Oxytocin-neurophysin 1 (1-125) Protein uniprot:P01178
Ghrelin (24-51) Protein uniprot:Q9UBU3
GNRH1 (24-92) Protein uniprot:P01148
POMC (138-150) Protein uniprot:P01189
Insulin B chain(25-54) Protein uniprot:P01308
GNRH1 (24-33) Protein uniprot:P01148
BDNF (1-247) Protein uniprot:P23560
Oxytocin (20-28) Protein uniprot:P01178
BDNF (129-247) Protein uniprot:P23560
Ghrelin (1-117) Protein uniprot:Q9UBU3
Insulin A chain(90-110) Protein uniprot:P01308
Insulin (57-87) Protein uniprot:P01308
p16-INK4a Protein uniprot:P42771
CDKN2C Protein uniprot:P42773
CCND1 Protein uniprot:P24385
CCND2 Protein uniprot:P30279
CDK6 Protein uniprot:Q00534
FEZ2 Protein ensembl:ENSG00000171055
GNRH1 Protein uniprot:P01148
GABRG2 Protein ensembl:ENSG00000113327
GABRG1 Protein ensembl:ENSG00000163285
GABRG3 Protein ensembl:ENSG00000182256
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References

  1. May B, editor. mRNA Splicing - Major Pathway (update) [Internet]. Reactome. Reactome; Available from: http://dx.doi.org/10.3180/R-HSA-72163.3 DOI
  2. Brange J, Langkjoer L. Insulin structure and stability. Pharm Biotechnol. 1993;5:315–50. PubMed Europe PMC Scholia
  3. Canton H, Emeson RB, Barker EL, Backstrom JR, Lu JT, Chang MS, et al. Identification, molecular cloning, and distribution of a short variant of the 5-hydroxytryptamine2C receptor produced by alternative splicing. Mol Pharmacol. 1996 Oct;50(4):799–807. PubMed Europe PMC Scholia
  4. Homanics GE, DeLorey TM, Firestone LL, Quinlan JJ, Handforth A, Harrison NL, et al. Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Proc Natl Acad Sci U S A. 1997 Apr 15;94(8):4143–8. PubMed Europe PMC Scholia
  5. Burns CM, Chu H, Rueter SM, Hutchinson LK, Canton H, Sanders-Bush E, et al. Regulation of serotonin-2C receptor G-protein coupling by RNA editing. Nature. 1997 May 15;387(6630):303–8. PubMed Europe PMC Scholia
  6. Kuroda S, Nakagawa N, Tokunaga C, Tatematsu K, Tanizawa K. Mammalian homologue of the Caenorhabditis elegans UNC-76 protein involved in axonal outgrowth is a protein kinase C zeta-interacting protein. J Cell Biol. 1999 Feb 8;144(3):403–11. PubMed Europe PMC Scholia
  7. Lee S, Walker CL, Karten B, Kuny SL, Tennese AA, O’Neill MA, et al. Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. Hum Mol Genet. 2005 Mar 1;14(5):627–37. PubMed Europe PMC Scholia
  8. Miller NLG, Wevrick R, Mellon PL. Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development. Hum Mol Genet. 2009 Jan 15;18(2):248–60. PubMed Europe PMC Scholia
  9. Bekker-Jensen S, Rendtlew Danielsen J, Fugger K, Gromova I, Nerstedt A, Lukas C, et al. HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes. Nat Cell Biol. 2010 Jan;12(1):80–6; sup pp 1-12. PubMed Europe PMC Scholia
  10. Navarro VM, Gottsch ML, Wu M, García-Galiano D, Hobbs SJ, Bosch MA, et al. Regulation of NKB pathways and their roles in the control of Kiss1 neurons in the arcuate nucleus of the male mouse. Endocrinology. 2011 Nov;152(11):4265–75. PubMed Europe PMC Scholia
  11. Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu R-B, et al. A global view of the OCA2-HERC2 region and pigmentation. Hum Genet. 2012 May;131(5):683–96. PubMed Europe PMC Scholia
  12. Mercer RE, Michaelson SD, Chee MJS, Atallah TA, Wevrick R, Colmers WF. Magel2 is required for leptin-mediated depolarization of POMC neurons in the hypothalamic arcuate nucleus in mice. PLoS Genet. 2013;9(1):e1003207. PubMed Europe PMC Scholia
  13. Colmers WF, Wevrick R. Leptin signaling defects in a mouse model of Prader-Willi syndrome: An orphan genetic obesity syndrome no more? Rare Dis. 2013 Mar 27;1:e24421. PubMed Europe PMC Scholia
  14. Abreu AP, Macedo DB, Brito VN, Kaiser UB, Latronico AC. A new pathway in the control of the initiation of puberty: the MKRN3 gene. J Mol Endocrinol. 2015 Jun;54(3):R131-9. PubMed Europe PMC Scholia
  15. Maillard J, Park S, Croizier S, Vanacker C, Cook JH, Prevot V, et al. Loss of Magel2 impairs the development of hypothalamic Anorexigenic circuits. Hum Mol Genet. 2016 Aug 1;25(15):3208–15. PubMed Europe PMC Scholia
  16. Garfield AS, Davies JR, Burke LK, Furby HV, Wilkinson LS, Heisler LK, et al. Increased alternate splicing of Htr2c in a mouse model for Prader-Willi syndrome leads disruption of 5HT2C receptor mediated appetite. Mol Brain. 2016 Dec 8;9(1):95. PubMed Europe PMC Scholia
  17. Burnett LC, LeDuc CA, Sulsona CR, Paull D, Rausch R, Eddiry S, et al. Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. J Clin Invest. 2017 Jan 3;127(1):293–305. PubMed Europe PMC Scholia
  18. Delahanty RJ, Zhang Y, Bichell TJ, Shen W, Verdier K, Macdonald RL, et al. Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation. Cell Rep. 2016 Dec 20;17(12):3115–24. PubMed Europe PMC Scholia
  19. Gamell C, Gulati T, Levav-Cohen Y, Young RJ, Do H, Pilling P, et al. Reduced abundance of the E3 ubiquitin ligase E6AP contributes to decreased expression of the INK4/ARF locus in non-small cell lung cancer. Sci Signal. 2017 Jan 10;10(461):eaaf8223. PubMed Europe PMC Scholia
  20. Ehrhart F, Janssen KJM, Coort SL, Evelo CT, Curfs LMG. Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders. World J Biol Psychiatry. 2019 Nov;20(9):670–82. PubMed Europe PMC Scholia
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