2q11.2 copy number variation syndrome (Homo sapiens)

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3, 11, 30, 51, 525314, 35, 411216-8, 19, 23...203412184646405, 13, 21, 383183410122, 15471632, 4524281791825, 33, 484327, 36, 50ERAcetylationof histone H4chr2:96,742,40953AT-rich stretches DNAExact function unknownRegulatesgene expressisonmyogenic differentiationCIA ComplexPolyspermyfertilizationIncorporation ofiron-sulfur cluster in proteinsGlycerophospholipid biosynthesisMetal transporterE3 ubiquitin-protein ligasechromosomecondensationmTOR signalingIL6RHOANEURL3STARD7-AS1MIR3127SNRNP200COL2A1Condensin I complexp38 MAPK signaling pathwayCOX11ASTLADRA2BCIAO2AglycoproteinsZP2phosphatidylcholinesSTARD7TMEM127ANKRD39DUSP2PARLLMAN2LSEMA4CMAPK3PLXNB2Acetylationof histone H3CNNM3Exact function unknownchondrocyte differentiationExact function unknownNCAPHmyoblast fusionMAPK1ARID5AMAPK3NSL complexMAPK1U4/U6.U5 snRNP complexCOL2A1CIAO2BSTAT3CIAO19ERBB2MMS19glycoproteinsANKRD23CIAO1Pre-mRNAFER1L5ERBB2G alpha (z) signaling eventsFAM178BITPRIPL1KANSL3CNNM4chr2:97,677,51653LegendMIM-cleavage of protein by enzymeTranslocationGene ProductMetaboliteRNA geneMIM-stimulation of an enzyme or a gene leading to its activation or expressionData node for a micro RNA or another RNA geneData node for a pathwayMIM-inhibition of a compound's function or a processMIM-catalysis of a compound by an enzymePathwayMIM-transcription-translation of a geneData node for a metaboliteDashed line indicates unclear mechanismof interaction/unclear intermediatesData node for a gene or its productMIM-conversion of a compound to anotherMIM-binding of a compound to anotherData node for a pseudo genePseudogene


Description

The 2q11.2 copy number variation syndrome can result in the loss of up to 27 protein-coding genes. Patients with 2q11.2 deletions were reported to have developmental delay, speech delay and ADHD, while subjects with 2q11.2 duplications apart from developmental delay had gastroesophageal reflux and short stature (DOI: 10.1002/ajmg.a.37269).

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Bibliography

View all...
  1. Wu D, Zhao L, Feng Z, Yu C, Ding J, Wang L, Wang F, Liu D, Zhu H, Xing F, Conaway JW, Conaway RC, Cai Y, Jin J; ''O-LinkedN-acetylglucosamine transferase 1 regulates global histone H4 acetylation via stabilization of the nonspecific lethal protein NSL3.''; J Biol Chem, 2017 PubMed Europe PMC Scholia
  2. Laggerbauer B, Achsel T, Lührmann R; ''The human U5-200kD DEXH-box protein unwinds U4/U6 RNA duplices in vitro.''; Proc Natl Acad Sci U S A, 1998 PubMed Europe PMC Scholia
  3. Perander M, Al-Mahdi R, Jensen TC, Nunn JA, Kildalsen H, Johansen B, Gabrielsen M, Keyse SM, Seternes OM; ''Regulation of atypical MAP kinases ERK3 and ERK4 by the phosphatase DUSP2.''; Sci Rep, 2017 PubMed Europe PMC Scholia
  4. Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR, Wood AJ, Vagnarelli P, Jackson AP; ''Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.''; Genes Dev, 2016 PubMed Europe PMC Scholia
  5. Seki M, Takeda Y, Iwai K, Tanaka K; ''IOP1 protein is an external component of the human cytosolic iron-sulfur cluster assembly (CIA) machinery and functions in the MMS19 protein-dependent CIA pathway.''; J Biol Chem, 2013 PubMed Europe PMC Scholia
  6. Fica SM, Oubridge C, Wilkinson ME, Newman AJ, Nagai K; ''A human postcatalytic spliceosome structure reveals essential roles of metazoan factors for exon ligation.''; Science, 2019 PubMed Europe PMC Scholia
  7. Zhang X, Yan C, Hang J, Finci LI, Lei J, Shi Y; ''An Atomic Structure of the Human Spliceosome.''; Cell, 2017 PubMed Europe PMC Scholia
  8. Haselbach D, Komarov I, Agafonov DE, Hartmuth K, Graf B, Dybkov O, Urlaub H, Kastner B, Lührmann R, Stark H; ''Structure and Conformational Dynamics of the Human Spliceosomal BactComplex.''; Cell, 2018 PubMed Europe PMC Scholia
  9. Nyati KK, Agarwal RG, Sharma P, Kishimoto T; ''Arid5a Regulation and the Roles of Arid5a in the Inflammatory Response and Disease.''; Front Immunol, 2019 PubMed Europe PMC Scholia
  10. Usha Kalyani R, Perinbam K, Jeyanthi P, Al-Dhabi NA, Valan Arasu M, Esmail GA, Kim YO, Kim H, Kim HJ; ''Fer1L5, a Dysferlin Homologue Present in Vesicles and Involved in C2C12 Myoblast Fusion and Membrane Repair.''; Biology (Basel), 2020 PubMed Europe PMC Scholia
  11. Kondoh K, Nishida E; ''Regulation of MAP kinases by MAP kinase phosphatases.''; Biochim Biophys Acta, 2007 PubMed Europe PMC Scholia
  12. Saita S, Tatsuta T, Lampe PA, König T, Ohba Y, Langer T; ''PARL partitions the lipid transfer protein STARD7 between the cytosol and mitochondria.''; EMBO J, 2018 PubMed Europe PMC Scholia
  13. Kim KS, Maio N, Singh A, Rouault TA; ''Cytosolic HSC20 integrates de novo iron-sulfur cluster biogenesis with the CIAO1-mediated transfer to recipients.''; Hum Mol Genet, 2018 PubMed Europe PMC Scholia
  14. Kamiya Y, Kamiya D, Yamamoto K, Nyfeler B, Hauri HP, Kato K; ''Molecular basis of sugar recognition by the human L-type lectins ERGIC-53, VIPL, and VIP36.''; J Biol Chem, 2008 PubMed Europe PMC Scholia
  15. Liu S, Rauhut R, Vornlocher HP, Lührmann R; ''The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP.''; RNA, 2006 PubMed Europe PMC Scholia
  16. Zhao Y, Cao X, Guo M, Wang X, Yu T, Ye L, Han L, Hei L, Tao W, Tong Y, Xu Y, Zhong J; ''Neuralized E3 Ubiquitin Protein Ligase 3 Is an Inducible Antiviral Effector That Inhibits Hepatitis C Virus Assembly by Targeting Viral E1 Glycoprotein.''; J Virol, 2018 PubMed Europe PMC Scholia
  17. Zhang H, Kozlov G, Li X, Wu H, Gulerez I, Gehring K; ''PRL3 phosphatase active site is required for binding the putative magnesium transporter CNNM3.''; Sci Rep, 2017 PubMed Europe PMC Scholia
  18. Gurrapu S, Pupo E, Franzolin G, Lanzetti L, Tamagnone L; ''Sema4C/PlexinB2 signaling controls breast cancer cell growth, hormonal dependence and tumorigenic potential.''; Cell Death Differ, 2018 PubMed Europe PMC Scholia
  19. Santos KF, Jovin SM, Weber G, Pena V, Lührmann R, Wahl MC; ''Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome.''; Proc Natl Acad Sci U S A, 2012 PubMed Europe PMC Scholia
  20. Flores-Martin J, Rena V, Angeletti S, Panzetta-Dutari GM, Genti-Raimondi S; ''The Lipid Transfer Protein StarD7: Structure, Function, and Regulation.''; Int J Mol Sci, 2013 PubMed Europe PMC Scholia
  21. Stehling O, Mascarenhas J, Vashisht AA, Sheftel AD, Niggemeyer B, Rösser R, Pierik AJ, Wohlschlegel JA, Lill R; ''Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins.''; Cell Metab, 2013 PubMed Europe PMC Scholia
  22. Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S; ''Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.''; J Med Genet, 2016 PubMed Europe PMC Scholia
  23. Zhang X, Zhan X, Yan C, Zhang W, Liu D, Lei J, Shi Y; ''Structures of the human spliceosomes before and after release of the ligated exon.''; Cell Res, 2019 PubMed Europe PMC Scholia
  24. Wu H, Wang X, Liu S, Wu Y, Zhao T, Chen X, Zhu L, Ding X, Peng X, Yuan J, Fan W, Fan M; ''Sema4C participates in myogenic differentiation in vivo and in vitro through the p38 MAPK pathway.''; Eur J Cell Biol, 2007 PubMed Europe PMC Scholia
  25. Funato Y, Yamazaki D, Mizukami S, Du L, Kikuchi K, Miki H; ''Membrane protein CNNM4-dependent Mg2+ efflux suppresses tumor progression.''; J Clin Invest, 2014 PubMed Europe PMC Scholia
  26. Bertram K, Agafonov DE, Dybkov O, Haselbach D, Leelaram MN, Will CL, Urlaub H, Kastner B, Lührmann R, Stark H; ''Cryo-EM Structure of a Pre-catalytic Human Spliceosome Primed for Activation.''; Cell, 2017 PubMed Europe PMC Scholia
  27. Takemoto A, Kimura K, Yokoyama S, Hanaoka F; ''Cell cycle-dependent phosphorylation, nuclear localization, and activation of human condensin.''; J Biol Chem, 2004 PubMed Europe PMC Scholia
  28. Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL; ''Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.''; Nat Genet, 2010 PubMed Europe PMC Scholia
  29. Zhan X, Yan C, Zhang X, Lei J, Shi Y; ''Structure of a human catalytic step I spliceosome.''; Science, 2018 PubMed Europe PMC Scholia
  30. Bermudez O, Pagès G, Gimond C; ''The dual-specificity MAP kinase phosphatases: critical roles in development and cancer.''; Am J Physiol Cell Physiol, 2010 PubMed Europe PMC Scholia
  31. Shindou H, Shimizu T; ''Acyl-CoA:lysophospholipid acyltransferases.''; J Biol Chem, 2009 PubMed Europe PMC Scholia
  32. Ho MK, Wong YH; ''G(z) signaling: emerging divergence from G(i) signaling.''; Oncogene, 2001 PubMed Europe PMC Scholia
  33. Yamazaki D, Miyata H, Funato Y, Fujihara Y, Ikawa M, Miki H; ''The Mg2+ transporter CNNM4 regulates sperm Ca2+ homeostasis and is essential for reproduction.''; J Cell Sci, 2016 PubMed Europe PMC Scholia
  34. Huang TH, Oka T, Asai T, Okada T, Merrills BW, Gertson PN, Whitson RH, Itakura K; ''Repression by a differentiation-specific factor of the human cytomegalovirus enhancer.''; Nucleic Acids Res, 1996 PubMed Europe PMC Scholia
  35. Appenzeller C, Andersson H, Kappeler F, Hauri HP; ''The lectin ERGIC-53 is a cargo transport receptor for glycoproteins.''; Nat Cell Biol, 1999 PubMed Europe PMC Scholia
  36. Ono T, Fang Y, Spector DL, Hirano T; ''Spatial and temporal regulation of Condensins I and II in mitotic chromosome assembly in human cells.''; Mol Biol Cell, 2004 PubMed Europe PMC Scholia
  37. Chen YQ, Kuo MS, Li S, Bui HH, Peake DA, Sanders PE, Thibodeaux SJ, Chu S, Qian YW, Zhao Y, Bredt DS, Moller DE, Konrad RJ, Beigneux AP, Young SG, Cao G; ''AGPAT6 is a novel microsomal glycerol-3-phosphate acyltransferase.''; J Biol Chem, 2008 PubMed Europe PMC Scholia
  38. Balk J, Aguilar Netz DJ, Tepper K, Pierik AJ, Lill R; ''The essential WD40 protein Cia1 is involved in a late step of cytosolic and nuclear iron-sulfur protein assembly.''; Mol Cell Biol, 2005 PubMed Europe PMC Scholia
  39. Takeuchi K, Reue K; ''Biochemistry, physiology, and genetics of GPAT, AGPAT, and lipin enzymes in triglyceride synthesis.''; Am J Physiol Endocrinol Metab, 2009 PubMed Europe PMC Scholia
  40. Cai Y, Jin J, Swanson SK, Cole MD, Choi SH, Florens L, Washburn MP, Conaway JW, Conaway RC; ''''; , PubMed Europe PMC Scholia
  41. Neve EP, Svensson K, Fuxe J, Pettersson RF; ''VIPL, a VIP36-like membrane protein with a putative function in the export of glycoproteins from the endoplasmic reticulum.''; Exp Cell Res, 2003 PubMed Europe PMC Scholia
  42. Zhan X, Yan C, Zhang X, Lei J, Shi Y; ''Structures of the human pre-catalytic spliceosome and its precursor spliceosome.''; Cell Res, 2018 PubMed Europe PMC Scholia
  43. Guo D, Ling J, Wang MH, She JX, Gu J, Wang CY; ''Physical interaction and functional coupling between ACDP4 and the intracellular ion chaperone COX11, an implication of the role of ACDP4 in essential metal ion transport and homeostasis.''; Mol Pain, 2005 PubMed Europe PMC Scholia
  44. Zhang X, Yan C, Zhan X, Li L, Lei J, Shi Y; ''Structure of the human activated spliceosome in three conformational states.''; Cell Res, 2018 PubMed Europe PMC Scholia
  45. Li C, Fan Y, Lan TH, Lambert NA, Wu G; ''Rab26 modulates the cell surface transport of α2-adrenergic receptors from the Golgi.''; J Biol Chem, 2012 PubMed Europe PMC Scholia
  46. Amano K, Hata K, Muramatsu S, Wakabayashi M, Takigawa Y, Ono K, Nakanishi M, Takashima R, Kogo M, Matsuda A, Nishimura R, Yoneda T; ''Arid5a cooperates with Sox9 to stimulate chondrocyte-specific transcription.''; Mol Biol Cell, 2011 PubMed Europe PMC Scholia
  47. Pires ES, Hlavin C, Macnamara E, Ishola-Gbenla K, Doerwaldt C, Chamberlain C, Klotz K, Herr AK, Khole A, Chertihin O, Curnow E, Feldman SH, Mandal A, Shetty J, Flickinger C, Herr JC; ''SAS1B protein [ovastacin] shows temporal and spatial restriction to oocytes in several eutherian orders and initiates translation at the primary to secondary follicle transition.''; Dev Dyn, 2013 PubMed Europe PMC Scholia
  48. Hirata Y, Funato Y, Takano Y, Miki H; ''Mg2+-dependent interactions of ATP with the cystathionine-β-synthase (CBS) domains of a magnesium transporter.''; J Biol Chem, 2014 PubMed Europe PMC Scholia
  49. De Fusco M, Vago R, Striano P, Di Bonaventura C, Zara F, Mei D, Kim MS, Muallem S, Chen Y, Wang Q, Guerrini R, Casari G; ''The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.''; Ann Neurol, 2014 PubMed Europe PMC Scholia
  50. Kimura K, Cuvier O, Hirano T; ''Chromosome condensation by a human condensin complex in Xenopus egg extracts.''; J Biol Chem, 2001 PubMed Europe PMC Scholia
  51. Patterson KI, Brummer T, Daly RJ, O'Brien PM; ''DUSP26 negatively affects the proliferation of epithelial cells, an effect not mediated by dephosphorylation of MAPKs.''; Biochim Biophys Acta, 2010 PubMed Europe PMC Scholia
  52. Roskoski R Jr; ''ERK1/2 MAP kinases: structure, function, and regulation.''; Pharmacol Res, 2012 PubMed Europe PMC Scholia
  53. Riley KN, Catalano LM, Bernat JA, Adams SD, Martin DM, Lalani SR, Patel A, Burnside RD, Innis JW, Rudd MK; ''Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.''; Am J Med Genet A, 2015 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
127056view14:44, 26 July 2023FehrhartUpdate to GRCh37 numbers
127055view14:38, 26 July 2023FehrhartReverted to version '12:56, 7 May 2022' by Fehrhart
127054view11:00, 26 July 2023Fehrhartcorrection of chr numbers
127053view10:48, 26 July 2023Fehrhartupdate to GRCh37
122738view12:56, 7 May 2022Shad4Added references for neuropathologies
122736view12:44, 7 May 2022Shad4Added Neuropathologies
122631view10:55, 22 April 2022FehrhartOntology Term : 'disease pathway' added !
122624view09:38, 22 April 2022Shad4Modified description
122600view18:14, 20 April 2022Shad4Labels converted into precesses without id and database
122597view12:29, 20 April 2022Shad4Converted to graphical lines
122544view21:32, 14 April 2022Shad4New pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ADRA2BGeneProductENSG00000274286 (Ensembl)
ANKRD23GeneProductENSG00000163126 (Ensembl)
ANKRD39GeneProductENSG00000213337 (Ensembl)
ARID5AGeneProductENSG00000196843 (Ensembl)
ASTLGeneProductENSG00000188886 (Ensembl)
CIA ComplexComplex
CIAO1GeneProductENSG00000144021 (Ensembl)
CIAO2AProteinENSG00000166797 (Ensembl)
CIAO2BProteinENSG00000166595 (Ensembl)
CNNM3GeneProductENSG00000168763 (Ensembl)
CNNM4GeneProductENSG00000158158 (Ensembl)
COL2A1ProteinENSG00000139219 (Ensembl)
COX11ProteinENSG00000166260 (Ensembl)
Condensin I complexComplexCPX-979
DUSP2GeneProductENSG00000158050 (Ensembl)
E3 ubiquitin-protein ligase
ERBB2ProteinENSG00000141736 (Ensembl)
FAM178BGeneProductENSG00000168754 (Ensembl)
FER1L5GeneProductENSG00000249715 (Ensembl)
G alpha (z) signaling eventsPathwayWP4422 (WikiPathways)
Glycerophospholipid biosynthesisPathwayWP2740 (WikiPathways)
IL6RnaENSG00000136244 (Ensembl)
ITPRIPL1GeneProductENSG00000198885 (Ensembl)
Incorporation of iron-sulfur cluster in proteins
KANSL3GeneProductENSG00000114982 (Ensembl)
LMAN2LGeneProductENSG00000114988 (Ensembl)
MAPK1ProteinENSG00000100030 (Ensembl)
MAPK3ProteinENSG00000102882 (Ensembl)
MIR3127GeneProductENSG00000264157 (Ensembl)
MMS19ProteinENSG00000155229 (Ensembl)
Metal transporter
NCAPHGeneProductENSG00000121152 (Ensembl)
NEURL3GeneProductENSG00000163121 (Ensembl)
NSL complexComplexCPX-809
PARLProteinENSG00000175193 (Ensembl)
PLXNB2ProteinENSG00000196576 (Ensembl)
PolyspermyQ1759519 (Wikidata)
Pre-mRNAMetaboliteCHEBI:139356 (ChEBI)
RHOAProteinENSG00000067560 (Ensembl)
SEMA4CGeneProductENSG00000168758 (Ensembl)
SNRNP200GeneProductENSG00000144028 (Ensembl)
STARD7-AS1GeneProductENSG00000204685 (Ensembl)
STARD7GeneProductENSG00000084090 (Ensembl)
STAT3RnaENSG00000168610 (Ensembl)
TMEM127GeneProductENSG00000135956 (Ensembl)
U4/U6.U5 snRNP complexComplexCPX-2391
ZP2ProteinENSG00000103310 (Ensembl)
chondrocyte differentiationQ14877672 (Wikidata)
chromosome condensationQ15311670 (Wikidata)
fertilizationQ14890574 (Wikidata)
glycoproteinsMetaboliteCHEBI:17089 (ChEBI)
mTOR signalingPathwayWP1471 (WikiPathways)
myoblast fusionPathwayQ14762265 (Wikidata)
myogenic differentiation
p38 MAPK signaling pathwayPathwayWP400 (WikiPathways)
phosphatidylcholinesMetaboliteCHEBI:49183 (ChEBI)

Annotated Interactions

No annotated interactions

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