7q11.23 distal copy number variation (WP5401)

Homo sapiens

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Deletion or duplication of the region chr7:75,138,294-76,064,412, also known as 7q11.23 distal (OMIM # 613729), are rare genetic disorders and can cause different neurological and neuropsychiatric symptoms. Patients are often observed with epilepsy and neurodevelopmental delay.

Authors

Friederike Ehrhart , Lars Willighagen , and Eric Weitz

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Annotations

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
(S)-malate Metabolite chebi:15589
Oxidized [cytochrome P450] Metabolite chebi:55376
NADP+ Metabolite chebi:58349
NADPH Metabolite chebi:57783
Reduced [cytochrome P450] Metabolite chebi:60344
NAD+ Metabolite chebi:57540
Oxaloacetate Metabolite chebi:16452
NADH Metabolite chebi:57945
MIR4651 GeneProduct ensembl:ENSG00000265020
SNORA14A GeneProduct ensembl:ENSG00000201643
MDH2 GeneProduct ensembl:ENSG00000146701
SRRM3 GeneProduct ensembl:ENSG00000177679
YWHAG GeneProduct ensembl:ENSG00000170027 14-3-3 protein gamma
LMNA GeneProduct ensembl:ENSG00000160789
HSPB1 GeneProduct ensembl:ENSG00000106211
RAF1 GeneProduct ensembl:ENSG00000132155
RHBDD2 GeneProduct ensembl:ENSG00000005486
ZP1 GeneProduct ensembl:ENSG00000149506
STYXL1 GeneProduct ensembl:ENSG00000127952
TMEM120B GeneProduct ensembl:ENSG00000188735
POR GeneProduct ensembl:ENSG00000127948
TMEM120A GeneProduct ensembl:ENSG00000189077
EPB41L3 GeneProduct ensembl:ENSG00000082397
G3BP1 GeneProduct ensembl:ENSG00000145907
PTPMT1 GeneProduct ensembl:ENSG00000110536
SFN GeneProduct ensembl:ENSG00000175793
KIF1C GeneProduct ensembl:ENSG00000129250
ZP3 GeneProduct ensembl:ENSG00000188372
DAPK2 GeneProduct ensembl:ENSG00000035664
SRCRB4D GeneProduct ensembl:ENSG00000146700
ZP2 GeneProduct ensembl:ENSG00000103310

References

  1. Regulation of Hsp27 oligomerization, chaperone function, and protective activity against oxidative stress/tumor necrosis factor alpha by phosphorylation. Rogalla T, Ehrnsperger M, Preville X, Kotlyarov A, Lutsch G, Ducasse C, et al. J Biol Chem. 1999 Jul 2;274(27):18947–56. PubMed Europe PMC Scholia
  2. 14-3-3Gamma interacts with and is phosphorylated by multiple protein kinase C isoforms in PDGF-stimulated human vascular smooth muscle cells. Autieri MV, Carbone CJ. DNA Cell Biol. 1999 Jul;18(7):555–64. PubMed Europe PMC Scholia
  3. The kinesin-like motor protein KIF1C occurs in intact cells as a dimer and associates with proteins of the 14-3-3 family. Dorner C, Ullrich A, Häring HU, Lammers R. J Biol Chem. 1999 Nov 19;274(47):33654–60. PubMed Europe PMC Scholia
  4. The 4.1/ezrin/radixin/moesin domain of the DAL-1/Protein 4.1B tumour suppressor interacts with 14-3-3 proteins. Yu T, Robb VA, Singh V, Gutmann DH, Newsham IF. Biochem J. 2002 Aug 1;365(Pt 3):783–9. PubMed Europe PMC Scholia
  5. Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer. Benzinger A, Muster N, Koch HB, Yates JR 3rd, Hermeking H. Mol Cell Proteomics. 2005 Jun;4(6):785–95. PubMed Europe PMC Scholia
  6. Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. Almeida-Souza L, Goethals S, de Winter V, Dierick I, Gallardo R, Van Durme J, et al. J Biol Chem. 2010 Apr 23;285(17):12778–86. PubMed Europe PMC Scholia
  7. The pseudophosphatase MK-STYX interacts with G3BP and decreases stress granule formation. Hinton SD, Myers MP, Roggero VR, Allison LA, Tonks NK. Biochem J. 2010 Apr 14;427(3):349–57. PubMed Europe PMC Scholia
  8. MK-STYX, a catalytically inactive phosphatase regulating mitochondrially dependent apoptosis. Niemi NM, Lanning NJ, Klomp JA, Tait SW, Xu Y, Dykema KJ, et al. Mol Cell Biol. 2011 Apr;31(7):1357–68. PubMed Europe PMC Scholia
  9. The pseudophosphatase MK-STYX inhibits stress granule assembly independently of Ser149 phosphorylation of G3BP-1. Barr JE, Munyikwa MR, Frazier EA, Hinton SD. FEBS J. 2013 Jan;280(1):273–84. PubMed Europe PMC Scholia
  10. The pseudophosphatase MK-STYX physically and genetically interacts with the mitochondrial phosphatase PTPMT1. Niemi NM, Sacoman JL, Westrate LM, Gaither LA, Lanning NJ, Martin KR, et al. PLoS One. 2014 Apr 7;9(4):e93896. PubMed Europe PMC Scholia
  11. TMEM120A and B: Nuclear Envelope Transmembrane Proteins Important for Adipocyte Differentiation. Batrakou DG, de Las Heras JI, Czapiewski R, Mouras R, Schirmer EC. PLoS One. 2015 May 29;10(5):e0127712. PubMed Europe PMC Scholia
  12. Suppression of death-associated protein kinase 2 by interaction with 14-3-3 proteins. Yuasa K, Ota R, Matsuda S, Isshiki K, Inoue M, Tsuji A. Biochem Biophys Res Commun. 2015 Aug 14;464(1):70–5. PubMed Europe PMC Scholia
  13. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, et al. Am J Hum Genet. 2017 Jan 5;100(1):151–9. PubMed Europe PMC Scholia
  14. A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility. Chen T, Bian Y, Liu X, Zhao S, Wu K, Yan L, et al. Am J Hum Genet. 2017 Sep 7;101(3):459–65. PubMed Europe PMC Scholia