16p12.2 copy number variation syndrome (520kb) (WP5510)
Homo sapiens
Copy number variations in the region 16p12.2 (exact position on the chromosome: Chr16:21950135-22431889 (GRCh37), are rare, pathological mutations in the human genome. It is a risk variation for neuropsychiatric diseases like schizophrenia (Kirov et al. 2014, 10.1016/j.biopsych.2013.07.022)
Authors
AlvalActivity
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Organisms
Homo sapiensCommunities
Annotations
Pathway Ontology
disease pathway| Label | Type | Compact URI | Comment |
|---|---|---|---|
| Ca2+ | Metabolite | chebi:29108 | |
| CDK2 | GeneProduct | ensembl:ENSG00000123374 | |
| MAPK14 | GeneProduct | ensembl:ENSG00000112062 | |
| CDK1 | GeneProduct | ensembl:ENSG00000170312 | |
| MAP2K1 | GeneProduct | ensembl:ENSG00000169032 | |
| TRPM7 | GeneProduct | ensembl:ENSG00000092439 | |
| PRKAB2 | GeneProduct | ensembl:ENSG00000131791 | |
| POLR3E | GeneProduct | ensembl:ENSG00000058600 | POLR3E is a component of the RNA polymerase that synthesizes small RNAs. |
| UQCRC2 | GeneProduct | ensembl:ENSG00000140740 | Ubiquinol-Cytochrome C Reductase Core Protein 2UQCRC2 is a fundamental protein for the assembly of the mitochondrial respiratory chain complex. |
| VWA3A | GeneProduct | ensembl:ENSG00000175267 | |
| PRKAG2 | GeneProduct | ensembl:ENSG00000106617 | |
| PRKAG1 | GeneProduct | ensembl:ENSG00000181929 | |
| PRKAG3 | GeneProduct | ensembl:ENSG00000115592 | |
| EEF2 | GeneProduct | ensembl:ENSG00000167658 | |
| PDZD9 | GeneProduct | ensembl:ENSG00000155714 | |
| SDR42E2 | GeneProduct | ensembl:ENSG00000183921 | |
| TRAP1 | GeneProduct | ensembl:ENSG00000126602 | Tumor Necrosis Factor Type 1 Receptor-Associated Protein - member of the heat shock protein 90 (HSP90) family. Location: chr16:3,708,038-3,767,525 |
| RPS6KB1 | GeneProduct | ensembl:ENSG00000108443 | |
| MOSMO | GeneProduct | ensembl:ENSG00000185716 | MOSMO is a negative regulator of hedgehog signaling |
| MT-CYB | GeneProduct | ensembl:ENSG00000198727 | |
| MTOR | GeneProduct | ensembl:ENSG00000198793 | |
| CDR2 | GeneProduct | ensembl:ENSG00000140743 | CDR2 is an onco-neural antigen and has been associated with cerebellar ataxia.cerebellar degeneration-related protein 2 |
| CDH18 | GeneProduct | ensembl:ENSG00000145526 | CDH18 (cadherin 18) is specifically expressed in the central nervous system. |
| PRKAB1 | GeneProduct | ensembl:ENSG00000111725 | |
| PRKAA1 | GeneProduct | ensembl:ENSG00000132356 | |
| PRKAA2 | GeneProduct | ensembl:ENSG00000162409 | |
| UQCRH | GeneProduct | ensembl:ENSG00000173660 | |
| UQCRC2 | GeneProduct | ensembl:ENSG00000140740 | |
| UQCRC1 | GeneProduct | ensembl:ENSG00000010256 | |
| UQCRFS1 | GeneProduct | ensembl:ENSG00000169021 | Rieske protein |
| CYC1 | GeneProduct | ensembl:ENSG00000179091 | |
| UQCRB | GeneProduct | ensembl:ENSG00000156467 | |
| UQCRQ | GeneProduct | ensembl:ENSG00000164405 | |
| UQCR10 | GeneProduct | ensembl:ENSG00000184076 | |
| UQCR11 | GeneProduct | ensembl:ENSG00000127540 | |
| UQCRFS1 | GeneProduct | ensembl:ENSG00000169021 | |
| RAB5IF | GeneProduct | ensembl:ENSG00000101084 | Involved in mitochondrial respirasome assembly and multi-pass transmembrane protein insertion into ER membrane |
| NDUFS3 | GeneProduct | ensembl:ENSG00000213619 | |
| NDUFA4 | GeneProduct | ensembl:ENSG00000189043 | |
| NDUFV1 | GeneProduct | ensembl:ENSG00000167792 | |
| NDUFA9 | GeneProduct | ensembl:ENSG00000139180 | |
| NDUFS8 | GeneProduct | ensembl:ENSG00000110717 | |
| COX5A | GeneProduct | ensembl:ENSG00000178741 | |
| COX7C | GeneProduct | ensembl:ENSG00000127184 | |
| RPTOR | GeneProduct | ensembl:ENSG00000141564 | |
| MLST8 | GeneProduct | ensembl:ENSG00000167965 | |
| EEF2K | GeneProduct | ensembl:ENSG00000103319 | EEF2K is a kinase involved in the regulation of protein synthesis elongation and has been recently associated with learning and memory, synaptic plasticity, and the short-term antidepressant action of ketamine. eef2k-knockout mice have been described to have defects in the reproductive system, and those carrying a homozygous-inactivating pathogenic variant leading to 0.5% residual activity showed learning memory deficits and altered brain activity.Calmodulin (CaM)-dependent eukaryotic elongation factor 2 kinase. |
| EEF2K | GeneProduct | ensembl:ENSG00000103319 | EEF2K is a kinase involved in the regulation of protein synthesis elongation and has been recently associated with learning and memory, synaptic plasticity, and the short-term antidepressant action of ketamine. eef2k-knockout mice have been described to have defects in the reproductive system, and those carrying a homozygous-inactivating pathogenic variant leading to 0.5% residual activity showed learning memory deficits and altered brain activity. |
| MAP2K2 | GeneProduct | ensembl:ENSG00000126934 | |
| MAPK3 | GeneProduct | ensembl:ENSG00000102882 | |
| MAPK1 | GeneProduct | ensembl:ENSG00000100030 | |
| RPS6KA1 | GeneProduct | ensembl:ENSG00000117676 | |
| MAPK11 | GeneProduct | ensembl:ENSG00000185386 | |
| MAPK12 | GeneProduct | ensembl:ENSG00000188130 | |
| MAPK13 | GeneProduct | ensembl:ENSG00000156711 | |
| CALM3 | GeneProduct | ensembl:ENSG00000160014 | |
| CALM1 | GeneProduct | ensembl:ENSG00000198668 | |
| CALM2 | GeneProduct | ensembl:ENSG00000143933 |
References
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- Evidence for a mitochondrial oxidative phosphorylation defect in brains from patients with schizophrenia. Maurer I, Zierz S, Möller H. Schizophr Res. 2001 Mar 1;48(1):125–36. PubMed Europe PMC Scholia
- Stress-induced regulation of eukaryotic elongation factor 2 kinase by SB 203580-sensitive and -insensitive pathways. Knebel A, Haydon CE, Morrice N, Cohen P. Biochem J. 2002 Oct 15;367(Pt 2):525–32. PubMed Europe PMC Scholia
- Activation of AMP-activated protein kinase leads to the phosphorylation of elongation factor 2 and an inhibition of protein synthesis. Horman S, Browne G, Krause U, Patel J, Vertommen D, Bertrand L, et al. Curr Biol. 2002 Aug 20;12(16):1419–23. PubMed Europe PMC Scholia
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- The channel-kinase TRPM7 regulates phosphorylation of the translational factor eEF2 via eEF2-k. Perraud AL, Zhao X, Ryazanov AG, Schmitz C. Cell Signal. 2011 Mar;23(3):586–93. PubMed Europe PMC Scholia
- TRAP1 and the proteasome regulatory particle TBP7/Rpt3 interact in the endoplasmic reticulum and control cellular ubiquitination of specific mitochondrial proteins. Amoroso MR, Matassa DS, Laudiero G, Egorova AV, Polishchuk RS, Maddalena F, et al. Cell Death Differ. 2012 Apr;19(4):592–604. PubMed Europe PMC Scholia
- Calcium/calmodulin stimulates the autophosphorylation of elongation factor 2 kinase on Thr-348 and Ser-500 to regulate its activity and calcium dependence. Tavares CDJ, O’Brien JP, Abramczyk O, Devkota AK, Shores KS, Ferguson SB, et al. Biochemistry. 2012 Mar 20;51(11):2232–45. PubMed Europe PMC Scholia
- Phosphorylation of eukaryotic elongation factor 2 (eEF2) by cyclin A-cyclin-dependent kinase 2 regulates its inhibition by eEF2 kinase. Hizli AA, Chi Y, Swanger J, Carter JH, Liao Y, Welcker M, et al. Mol Cell Biol. 2013 Feb;33(3):596–604. PubMed Europe PMC Scholia
- Architecture of Human Mitochondrial Respiratory Megacomplex I2III2IV2. Guo R, Zong S, Wu M, Gu J, Yang M. Cell. 2017 Sep 7;170(6):1247-1257.e12. PubMed Europe PMC Scholia
- CRISPR Screens Uncover Genes that Regulate Target Cell Sensitivity to the Morphogen Sonic Hedgehog. Pusapati GV, Kong JH, Patel BB, Krishnan A, Sagner A, Kinnebrew M, et al. Dev Cell. 2018 Jan 22;44(2):271. PubMed Europe PMC Scholia
- A Novel Tumor-Suppressor, CDH18, Inhibits Glioma Cell Invasiveness Via UQCRC2 and Correlates with the Prognosis of Glioma Patients. Bai YH, Zhan YB, Yu B, Wang WW, Wang L, Zhou JQ, et al. Cell Physiol Biochem. 2018;48(4):1755–70. PubMed Europe PMC Scholia
- Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. Moutaoufik MT, Malty R, Amin S, Zhang Q, Phanse S, Gagarinova A, et al. iScience. 2019 Sep 27;19:1114–32. PubMed Europe PMC Scholia
- Insights Into the Pathologic Roles and Regulation of Eukaryotic Elongation Factor-2 Kinase. Ballard DJ, Peng HY, Das JK, Kumar A, Wang L, Ren Y, et al. Front Mol Biosci. 2021 Aug 31;8:727863. PubMed Europe PMC Scholia