16p12.2 copy number variation syndrome (520kb) (Homo sapiens)

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Description

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)

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Bibliography

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  1. Smith EM, Proud CG; ''cdc2-cyclin B regulates eEF2 kinase activity in a cell cycle- and amino acid-dependent manner.''; EMBO J, 2008 PubMed Europe PMC Scholia
  2. Knebel A, Haydon CE, Morrice N, Cohen P; ''Stress-induced regulation of eukaryotic elongation factor 2 kinase by SB 203580-sensitive and -insensitive pathways.''; Biochem J, 2002 PubMed Europe PMC Scholia
  3. Maurer I, Zierz S, Möller H; ''Evidence for a mitochondrial oxidative phosphorylation defect in brains from patients with schizophrenia.''; Schizophr Res, 2001 PubMed Europe PMC Scholia
  4. Amoroso MR, Matassa DS, Laudiero G, Egorova AV, Polishchuk RS, Maddalena F, Piscazzi A, Paladino S, Sarnataro D, Garbi C, Landriscina M, Esposito F; ''TRAP1 and the proteasome regulatory particle TBP7/Rpt3 interact in the endoplasmic reticulum and control cellular ubiquitination of specific mitochondrial proteins.''; Cell Death Differ, 2012 PubMed Europe PMC Scholia
  5. Bai YH, Zhan YB, Yu B, Wang WW, Wang L, Zhou JQ, Chen RK, Zhang FJ, Zhao XW, Duan WC, Wang YM, Liu J, Bao JJ, Zhang ZY, Liu XZ; ''A Novel Tumor-Suppressor, CDH18, Inhibits Glioma Cell Invasiveness Via UQCRC2 and Correlates with the Prognosis of Glioma Patients.''; Cell Physiol Biochem, 2018 PubMed Europe PMC Scholia
  6. Hizli AA, Chi Y, Swanger J, Carter JH, Liao Y, Welcker M, Ryazanov AG, Clurman BE; ''Phosphorylation of eukaryotic elongation factor 2 (eEF2) by cyclin A-cyclin-dependent kinase 2 regulates its inhibition by eEF2 kinase.''; Mol Cell Biol, 2013 PubMed Europe PMC Scholia
  7. Ballard DJ, Peng HY, Das JK, Kumar A, Wang L, Ren Y, Xiong X, Ren X, Yang JM, Song J; ''Insights Into the Pathologic Roles and Regulation of Eukaryotic Elongation Factor-2 Kinase.''; Front Mol Biosci, 2021 PubMed Europe PMC Scholia
  8. Horman S, Browne G, Krause U, Patel J, Vertommen D, Bertrand L, Lavoinne A, Hue L, Proud C, Rider M; ''Activation of AMP-activated protein kinase leads to the phosphorylation of elongation factor 2 and an inhibition of protein synthesis.''; Curr Biol, 2002 PubMed Europe PMC Scholia
  9. Perraud AL, Zhao X, Ryazanov AG, Schmitz C; ''The channel-kinase TRPM7 regulates phosphorylation of the translational factor eEF2 via eEF2-k.''; Cell Signal, 2011 PubMed Europe PMC Scholia
  10. Beal MF; ''Aging, energy, and oxidative stress in neurodegenerative diseases.''; Ann Neurol, 1995 PubMed Europe PMC Scholia
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  12. Moutaoufik MT, Malty R, Amin S, Zhang Q, Phanse S, Gagarinova A, Zilocchi M, Hoell L, Minic Z, Gagarinova M, Aoki H, Stockwell J, Jessulat M, Goebels F, Broderick K, Scott NE, Vlasblom J, Musso G, Prasad B, Lamantea E, Garavaglia B, Rajput A, Murayama K, Okazaki Y, Foster LJ, Bader GD, Cayabyab FS, Babu M; ''Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis.''; iScience, 2019 PubMed Europe PMC Scholia
  13. Tavares CD, O'Brien JP, Abramczyk O, Devkota AK, Shores KS, Ferguson SB, Kaoud TS, Warthaka M, Marshall KD, Keller KM, Zhang Y, Brodbelt JS, Ozpolat B, Dalby KN; ''Calcium/calmodulin stimulates the autophosphorylation of elongation factor 2 kinase on Thr-348 and Ser-500 to regulate its activity and calcium dependence.''; Biochemistry, 2012 PubMed Europe PMC Scholia
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  16. Guo R, Zong S, Wu M, Gu J, Yang M; ''Architecture of Human Mitochondrial Respiratory Megacomplex I(2)III(2)IV(2).''; Cell, 2017 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
139934view06:50, 12 July 2025EgonwRemoved duplicate BioPax fields
139933view06:02, 12 July 2025EgonwCompleted PubMed references
139897view05:05, 10 July 2025EgonwModified description
139896view04:47, 10 July 2025EgonwCalcium ion with unicode
136508view15:46, 5 February 2025AlvalUpdate EEF2K interactions
136507view15:24, 5 February 2025AlvalUpdate with more EEF2K interactors
136484view15:25, 4 February 2025AlvalArrange EEF2K interactions
136467view15:09, 3 February 2025AlvalAdd interactions to EEF2K
136466view14:55, 3 February 2025AlvalUpdate EEF2K interactions
136465view14:35, 3 February 2025AlvalAdd more interactions to EEF2K
136455view12:08, 3 February 2025AlvalUpdate of interactions
136361view12:19, 30 January 2025AlvalOntology Term : 'disease pathway' added !
136360view11:42, 30 January 2025Alvaladd more interactions
136291view13:29, 22 January 2025AlvalNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
CALM1GeneProductENSG00000198668 (Ensembl)
CALM2GeneProductENSG00000143933 (Ensembl)
CALM3GeneProductENSG00000160014 (Ensembl)
CDH18GeneProductENSG00000145526 (Ensembl) CDH18 (cadherin 18) is specifically expressed in the central nervous system.
CDR2GeneProductENSG00000140743 (Ensembl)
  • CDR2 is an onco-neural antigen and has been associated with cerebellar ataxia.
  • cerebellar degeneration-related protein 2
COX5AGeneProductENSG00000178741 (Ensembl)
COX7CGeneProductENSG00000127184 (Ensembl)
CYC1GeneProductENSG00000179091 (Ensembl)
EEF2GeneProductENSG00000167658 (Ensembl)
EEF2KGeneProductENSG00000103319 (Ensembl) 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.
Hedgehog signaling PathwayWP4249 (WikiPathways)
MAP2K1GeneProductENSG00000169032 (Ensembl)
MAP2K2GeneProductENSG00000126934 (Ensembl)
MAPK11GeneProductENSG00000185386 (Ensembl)
MAPK12GeneProductENSG00000188130 (Ensembl)
MAPK13GeneProductENSG00000156711 (Ensembl)
MAPK14GeneProductENSG00000112062 (Ensembl)
MAPK1GeneProductENSG00000100030 (Ensembl)
MAPK3GeneProductENSG00000102882 (Ensembl)
MLST8GeneProductENSG00000167965 (Ensembl)
MOSMOGeneProductENSG00000185716 (Ensembl) MOSMO is a negative regulator of hedgehog signaling
MT-CYBGeneProductENSG00000198727 (Ensembl)
MTORGeneProductENSG00000198793 (Ensembl)
NDUFA4GeneProductENSG00000189043 (Ensembl)
NDUFA9GeneProductENSG00000139180 (Ensembl)
NDUFS3GeneProductENSG00000213619 (Ensembl)
NDUFS8GeneProductENSG00000110717 (Ensembl)
NDUFV1GeneProductENSG00000167792 (Ensembl)
Oxidative PhosphorylationPathway
Oxidative stress PathwayWP5477 (WikiPathways)
PDZD9GeneProductENSG00000155714 (Ensembl)
POLR3EGeneProductENSG00000058600 (Ensembl) POLR3E is a component of the RNA polymerase that synthesizes small RNAs.
PRKAA1GeneProductENSG00000132356 (Ensembl)
PRKAA2GeneProductENSG00000162409 (Ensembl)
PRKAB1GeneProductENSG00000111725 (Ensembl)
PRKAB2GeneProductENSG00000131791 (Ensembl)
PRKAG1GeneProductENSG00000181929 (Ensembl)
PRKAG2GeneProductENSG00000106617 (Ensembl)
PRKAG3GeneProductENSG00000115592 (Ensembl)
RAB5IFGeneProductENSG00000101084 (Ensembl) Involved in mitochondrial respirasome assembly and multi-pass transmembrane protein insertion into ER membrane
RPS6KA1GeneProductENSG00000117676 (Ensembl)
RPS6KB1GeneProductENSG00000108443 (Ensembl)
RPTORGeneProductENSG00000141564 (Ensembl)
SDR42E2GeneProductENSG00000183921 (Ensembl)
TRAP1GeneProductENSG00000126602 (Ensembl) 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
TRPM7GeneProductENSG00000092439 (Ensembl)
UQCR10GeneProductENSG00000184076 (Ensembl)
UQCR11GeneProductENSG00000127540 (Ensembl)
UQCRBGeneProductENSG00000156467 (Ensembl)
UQCRC1GeneProductENSG00000010256 (Ensembl)
UQCRC2GeneProductENSG00000140740 (Ensembl)
UQCRFS1GeneProductENSG00000169021 (Ensembl)
UQCRHGeneProductENSG00000173660 (Ensembl)
UQCRQGeneProductENSG00000164405 (Ensembl)
VWA3AGeneProductENSG00000175267 (Ensembl)

Annotated Interactions

No annotated interactions

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