22q11.2 copy number variation syndrome (Homo sapiens)

From WikiPathways

Revision as of 12:43, 25 August 2020 by Fehrhart (Talk | contribs)
Jump to: navigation, search
chr22:21455556ABHD17AP4CA15P1TUBA3FPPPP1R26P4FAM230FE2F6P3POM121L8PDGCR9BCRP7GGT3PPOM121L4PSMPD4P1C22orf39FAM230BTMEM191ADGCR10BCRP2POM121L7PSLC9A3P2LINC01637E2F6P1LINC01311DGCR11CCDC74BP1TSSK1ARIMBP3BBCRP5P2RX6PRNU6-225PKRT18P62FAM230HRN7SKP63RN7SL168PIGLL4PLINC00895RNY1P9FAM230ETUBA3GPSNORA77BGGT2FAM230GPPP1R26P5LINC01651RN7SL812PE2F6P2BCRP6KRT18P5231112240187Gene ProductMetabolitemiRnareward-mediating mesocorticolimbicpathwaysMIM-stimulation of an enzyme or a gene leading to its activation or expressionData node for a micro RNAData node for a pathwayMIM-inhibition of a compound's function or a processMIM-catalysis of a compound by an enzymePathwayComplexMIM-gap of knowledge on the exact nature of the interactionMIM-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 anotherSynaptic transmissionat thalamocortical glutamatergic projectionshsa-miR-9-5pInsulin SignallingVWFDopamine metabolismBlood Clotting CascadeHeart developmentGP1BBGP1BANeurotransmitter clearanceDRD2GP5LINC00037GP9Translocation of SLC2A4 to the plasma membrane 241722610132210821163233352437142743201914262025, 4128, 411, 26, 392727273PPCentromeredegradation of ubiquitinfusion proteinsnucleosome assemblyduring sperm nucleus decondensationApoptosisthrough caspase activationNeurite outgrowthin neural precursorcellsmitochondrial redoxhomeostasis MitochondrionDNA unwinding during replication elongation cell cycle-dependenthistone genetranscriptionMesenchymevesicle fusion at the endoplasmic reticulum or Golgi membranesAsymmetric remodelling of PAASecond heart fieldAxonal Growth(Premature) differentiation of SHF cellsNeuronal inhibitionIncreased RA signallingintracellular signalingSERPIND1GLUD1CCDC188hsa-mir-4761ARVCFRAF1MED15ALDH4A1KLHL22LZTR1UFD12-oxoglutaric acidTHAP7SLC7A4DGCR6LcitrateL-Glutamic gamma-semialdehydeLRRC74BOATTSSK2HIC2RAF1hsa-mir-1286HIRIP3prolineHAND2SHOC2RTN4RCDC45SLC2A4SEPTIN5RAS/MAPK signal transductionTANGO2DGCR2DGCR6hsa-miR-3618LINC00896Urea cycleGSC25CLDN5GNB1LOrnithineAIFM3TXNRD2RANBP1glutamineRTL10ZNF74PPP1CBP2RX6ESS2glutamateCBX5TCA cycleTRMT2API4KAASF1AMRPL4034hsa-mir-6816USP41riluzoleCLTCL1HIRAhsa-mir-1306PAX3TSKShsa-mir-649FGF10SLC25A1CRKL381-pyrroline-5-carboxylateSCARF2retinalEMC10NormetanephrineHomovanillic acidRetinoic acidSRFDROSHAFOXA2hsa-miR-194-1PRODHFGF8CYP26B14-oxo-Retinoic acidCOMTCHRDFOXC1CRKLSHHNorepinephrineCYP26A1DopaminePITX2ZDHHC8FGF8FGFR2DGCR8DL-MetanephrineEpinephrineTBX1hsa-miR-185CYP26C1FOXC2Retinoic acidFGFR14-hydroxyretinoic acidhsa-miR-363NKX2-5hsa-miR-150ALDH1A2DOPAC3-MethoxytyramineSNAP29FGFR2FGFR1CDC4230DGCR89hsa-miR-18531EctodermcNCC patterningNeurogenesis and neural differentiationHES1HES1GBX2Notch signalling(Premature) muscular differentiation GP1BB362931RAF1PcitrateTCA cycleGP1b-IX-V activation signalling22ACTA2ACTC1DopamineFOXA2FOXC1FOXC2TBX1DGCR527EGFRchr22:18660553TSKS


Description

The 22q11.2 deletion syndrome can result in the loss of up to 46 protein-coding genes, which have wide-spread effects on human development. The loss of TBX1 is thought to be responsible for a large proportion of the 22q11.2DS phenotype, due its role in the development of the heart, thymus, thyroid, parathyroids and more.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Williams HJ, Owen MJ, O'Donovan MC; ''Is COMT a susceptibility gene for schizophrenia?''; Schizophr Bull, 2007 PubMed Europe PMC Scholia
  2. de la Morena MT, Eitson JL, Dozmorov IM, Belkaya S, Hoover AR, Anguiano E, Pascual MV, van Oers NSC; ''Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome.''; Clin Immunol, 2013 PubMed Europe PMC Scholia
  3. Moon AM, Guris DL, Seo JH, Li L, Hammond J, Talbot A, Imamoto A; ''Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes.''; Dev Cell, 2006 PubMed Europe PMC Scholia
  4. Chang YH, Nishimura S, Oishi H, Kelly VP, Kuno A, Takahashi S; ''TRMT2A is a novel cell cycle regulator that suppresses cell proliferation.''; Biochem Biophys Res Commun, 2019 PubMed Europe PMC Scholia
  5. Liu N, Olson EN; ''Coactivator control of cardiovascular growth and remodeling.''; Curr Opin Cell Biol, 2006 PubMed Europe PMC Scholia
  6. West MB, Wickham S, Parks EE, Sherry DM, Hanigan MH; ''Human GGT2 does not autocleave into a functional enzyme: A cautionary tale for interpretation of microarray data on redox signaling.''; Antioxid Redox Signal, 2013 PubMed Europe PMC Scholia
  7. van Bueren KL, Papangeli I, Rochais F, Pearce K, Roberts C, Calmont A, Szumska D, Kelly RG, Bhattacharya S, Scambler PJ; ''Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.''; Dev Biol, 2010 PubMed Europe PMC Scholia
  8. Stark KL, Xu B, Bagchi A, Lai WS, Liu H, Hsu R, Wan X, Pavlidis P, Mills AA, Karayiorgou M, Gogos JA; ''Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model.''; Nat Genet, 2008 PubMed Europe PMC Scholia
  9. Chun S, Westmoreland JJ, Bayazitov IT, Eddins D, Pani AK, Smeyne RJ, Yu J, Blundon JA, Zakharenko SS; ''Specific disruption of thalamic inputs to the auditory cortex in schizophrenia models.''; Science, 2014 PubMed Europe PMC Scholia
  10. Roberts C, Ivins SM, James CT, Scambler PJ; ''Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.''; Dev Dyn, 2005 PubMed Europe PMC Scholia
  11. Byrd NA, Meyers EN; ''Loss of Gbx2 results in neural crest cell patterning and pharyngeal arch artery defects in the mouse embryo.''; Dev Biol, 2005 PubMed Europe PMC Scholia
  12. Chen CY, Schwartz RJ; ''Recruitment of the tinman homolog Nkx-2.5 by serum response factor activates cardiac alpha-actin gene transcription.''; Mol Cell Biol, 1996 PubMed Europe PMC Scholia
  13. Shi S, Leites C, He D, Schwartz D, Moy W, Shi J, Duan J; ''MicroRNA-9 and microRNA-326 regulate human dopamine D2 receptor expression, and the microRNA-mediated expression regulation is altered by a genetic variant.''; J Biol Chem, 2014 PubMed Europe PMC Scholia
  14. Ivins S, Lammerts van Beuren K, Roberts C, James C, Lindsay E, Baldini A, Ataliotis P, Scambler PJ; ''Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1.''; Dev Biol, 2005 PubMed Europe PMC Scholia
  15. Choi P, Snyder H, Petrucelli L, Theisler C, Chong M, Zhang Y, Lim K, Chung KK, Kehoe K, D'Adamio L, Lee JM, Cochran E, Bowser R, Dawson TM, Wolozin B; ''SEPT5_v2 is a parkin-binding protein.''; Brain Res Mol Brain Res, 2003 PubMed Europe PMC Scholia
  16. Plafker K, Macara IG; ''Facilitated nucleocytoplasmic shuttling of the Ran binding protein RanBP1.''; Mol Cell Biol, 2000 PubMed Europe PMC Scholia
  17. Akashi M, Takumi T; ''The orphan nuclear receptor RORalpha regulates circadian transcription of the mammalian core-clock Bmal1.''; Nat Struct Mol Biol, 2005 PubMed Europe PMC Scholia
  18. Ni C, Yang P, Guo J, Ye M; ''Role of DiGeorge syndrome critical region gene 9, a long noncoding RNA, in gastric cancer.''; Onco Targets Ther, 2018 PubMed Europe PMC Scholia
  19. Kaufmann U, Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, Jockusch BM, Eppenberger H, Starzinski-Powitz A; ''The armadillo repeat region targets ARVCF to cadherin-based cellular junctions.''; J Cell Sci, 2000 PubMed Europe PMC Scholia
  20. Macfarlan T, Kutney S, Altman B, Montross R, Yu J, Chakravarti D; ''Human THAP7 is a chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3 and nuclear hormone receptor corepressor.''; J Biol Chem, 2005 PubMed Europe PMC Scholia
  21. Yi Z, Ouyang J, Sun W, Li S, Xiao X, Zhang Q; ''Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa.''; EBioMedicine, 2020 PubMed Europe PMC Scholia
  22. Xu B, Hsu PK, Stark KL, Karayiorgou M, Gogos JA; ''Derepression of a neuronal inhibitor due to miRNA dysregulation in a schizophrenia-related microdeletion.''; Cell, 2013 PubMed Europe PMC Scholia
  23. Neville MJ, Johnstone EC, Walton RT; ''Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1.''; Hum Mutat, 2004 PubMed Europe PMC Scholia
  24. Belangero SI, Ota VK, Gadelha A, Berberian AA, Assunção-Leme IB, Noto C, Christofolini DM, Bellucco FT, Santoro ML, Mazzotti DR, Zugman A, Melaragno MI, Smith MAC, Pellegrino R, Hakonarson H, Cordeiro Q, Moretti PN, Bressan RA, Mari JJ, Jackowski AP; ''DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis.''; Psychiatry Res, 2019 PubMed Europe PMC Scholia
  25. Fournier AE, GrandPre T, Strittmatter SM; ''Identification of a receptor mediating Nogo-66 inhibition of axonal regeneration.''; Nature, 2001 PubMed Europe PMC Scholia
  26. Takase K, Ohtsuki T, Migita O, Toru M, Inada T, Yamakawa-Kobayashi K, Arinami T; ''Association of ZNF74 gene genotypes with age-at-onset of schizophrenia.''; Schizophr Res, 2001 PubMed Europe PMC Scholia
  27. Zunner D, Deschermeier C, Kornau HC; ''GABA(B) receptor subunit 1 binds to proteins affected in 22q11 deletion syndrome.''; Biochem Biophys Res Commun, 2010 PubMed Europe PMC Scholia
  28. Cui Y, Pu R, Ye J, Huang H, Liao D, Yang Y, Chen W, Yao Y, He Y; ''LncRNA FAM230B Promotes Gastric Cancer Growth and Metastasis byRegulating the miR-27a-5p/TOP2A Axis.''; Dig Dis Sci, 2020 PubMed Europe PMC Scholia
  29. Coyne CB, Gambling TM, Boucher RC, Carson JL, Johnson LG; ''Role of claudin interactions in airway tight junctional permeability.''; Am J Physiol Lung Cell Mol Physiol, 2003 PubMed Europe PMC Scholia
  30. Yang F, Vought BW, Satterlee JS, Walker AK, Jim Sun ZY, Watts JL, DeBeaumont R, Saito RM, Hyberts SG, Yang S, Macol C, Iyer L, Tjian R, van den Heuvel S, Hart AC, Wagner G, Näär AM; ''An ARC/Mediator subunit required for SREBP control of cholesterol and lipid homeostasis.''; Nature, 2006 PubMed Europe PMC Scholia
  31. Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, Zieger B; ''Human septin-septin interaction: CDCrel-1 partners with KIAA0202.''; FEBS Lett, 2002 PubMed Europe PMC Scholia
  32. Choi M, Klingensmith J; ''Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse.''; PLoS Genet, 2009 PubMed Europe PMC Scholia
  33. Lorain S, Quivy JP, Monier-Gavelle F, Scamps C, Lécluse Y, Almouzni G, Lipinski M; ''Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA.''; Mol Cell Biol, 1998 PubMed Europe PMC Scholia
  34. Yamagishi H, Maeda J, Hu T, McAnally J, Conway SJ, Kume T, Meyers EN, Yamagishi C, Srivastava D; ''Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer.''; Genes Dev, 2003 PubMed Europe PMC Scholia
  35. Wong K, Cantley LC; ''Cloning and characterization of a human phosphatidylinositol 4-kinase.''; J Biol Chem, 1994 PubMed Europe PMC Scholia
  36. Zhang R, Poustovoitov MV, Ye X, Santos HA, Chen W, Daganzo SM, Erzberger JP, Serebriiskii IG, Canutescu AA, Dunbrack RL, Pehrson JR, Berger JM, Kaufman PD, Adams PD; ''Formation of MacroH2A-containing senescence-associated heterochromatin foci and senescence driven by ASF1a and HIRA.''; Dev Cell, 2005 PubMed Europe PMC Scholia
  37. Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D; ''A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects.''; Science, 1999 PubMed Europe PMC Scholia
  38. Pacek M, Tutter AV, Kubota Y, Takisawa H, Walter JC; ''Localization of MCM2-7, Cdc45, and GINS to the site of DNA unwinding during eukaryotic DNA replication.''; Mol Cell, 2006 PubMed Europe PMC Scholia
  39. Funke B, Puech A, Saint-Jore B, Pandita R, Skoultchi A, Morrow B; ''Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11.''; Genomics, 1998 PubMed Europe PMC Scholia
  40. Williams NM, Glaser B, Norton N, Williams H, Pierce T, Moskvina V, Monks S, Del Favero J, Goossens D, Rujescu D, Giegling I, Kirov G, Craddock N, Murphy KC, O'Donovan MC, Owen MJ; ''Strong evidence that GNB1L is associated with schizophrenia.''; Hum Mol Genet, 2008 PubMed Europe PMC Scholia
  41. Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S, Watanabe K, Tanaka T; ''The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders.''; Genomics, 2001 PubMed Europe PMC Scholia
  42. McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewska LA; ''Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.''; J Med Genet, 2013 PubMed Europe PMC Scholia
  43. Vassilopoulos S, Esk C, Hoshino S, Funke BH, Chen CY, Plocik AM, Wright WE, Kucherlapati R, Brodsky FM; ''A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolism.''; Science, 2009 PubMed Europe PMC Scholia
  44. Ishiguro H, Koga M, Horiuchi Y, Noguchi E, Morikawa M, Suzuki Y, Arai M, Niizato K, Iritani S, Itokawa M, Inada T, Iwata N, Ozaki N, Ujike H, Kunugi H, Sasaki T, Takahashi M, Watanabe Y, Someya T, Kakita A, Takahashi H, Nawa H, Arinami T; ''Supportive evidence for reduced expression of GNB1L in schizophrenia.''; Schizophr Bull, 2010 PubMed Europe PMC Scholia
  45. Magnaghi P, Roberts C, Lorain S, Lipinski M, Scambler PJ; ''HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3.''; Nat Genet, 1998 PubMed Europe PMC Scholia
  46. Wang KC, Kim JA, Sivasankaran R, Segal R, He Z; ''P75 interacts with the Nogo receptor as a co-receptor for Nogo, MAG and OMgp.''; Nature, 2002 PubMed Europe PMC Scholia
  47. Chen J, Ou Y, Yang Y, Li W, Xu Y, Xie Y, Liu Y; ''KLHL22 activates amino-acid-dependent mTORC1 signalling to promote tumorigenesis and ageing.''; Nature, 2018 PubMed Europe PMC Scholia
  48. Vitelli F, Taddei I, Morishima M, Meyers EN, Lindsay EA, Baldini A; ''A genetic link between Tbx1 and fibroblast growth factor signaling.''; Development, 2002 PubMed Europe PMC Scholia
  49. Hao Z, Jha KN, Kim YH, Vemuganti S, Westbrook VA, Chertihin O, Markgraf K, Flickinger CJ, Coppola M, Herr JC, Visconti PE; ''Expression analysis of the human testis-specific serine/threonine kinase (TSSK) homologues. A TSSK member is present in the equatorial segment of human sperm.''; Mol Hum Reprod, 2004 PubMed Europe PMC Scholia
  50. Takada I, Tsuchiya M, Yanaka K, Hidano S, Takahashi S, Kobayashi T, Ogawa H, Nakagawa S, Makishima M; ''Ess2 bridges transcriptional regulators and spliceosomal complexes via distinct interacting domains.''; Biochem Biophys Res Commun, 2018 PubMed Europe PMC Scholia
  51. Xu H, Morishima M, Wylie JN, Schwartz RJ, Bruneau BG, Lindsay EA, Baldini A; ''Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract.''; Development, 2004 PubMed Europe PMC Scholia
  52. Molinard-Chenu A, Dayer A; ''The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis.''; Biol Psychiatry, 2018 PubMed Europe PMC Scholia
  53. Bischoff FR, Krebber H, Smirnova E, Dong W, Ponstingl H; ''Co-activation of RanGTPase and inhibition of GTP dissociation by Ran-GTP binding protein RanBP1.''; EMBO J, 1995 PubMed Europe PMC Scholia
  54. Maerki S, Olma MH, Staubli T, Steigemann P, Gerlich DW, Quadroni M, Sumara I, Peter M; ''''; , PubMed Europe PMC Scholia
  55. Chen CY, Schwartz RJ; ''Recruitment of the tinman homolog Nkx-2.5 by serum response factor activates cardiac alpha-actin gene transcription.''; Mol Cell Biol, 1996 PubMed Europe PMC Scholia
  56. Nowotschin S, Liao J, Gage PJ, Epstein JA, Campione M, Morrow BE; ''Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field.''; Development, 2006 PubMed Europe PMC Scholia
  57. Bedeschi MF, Colombo L, Mari F, Hofmann K, Rauch A, Gentilin B, Renieri A, Clerici D; ''Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome.''; Mol Syndromol, 2010 PubMed Europe PMC Scholia
  58. Jennions E, Hedberg-Oldfors C, Berglund AK, Kollberg G, Törnhage CJ, Eklund EA, Oldfors A, Verloo P, Vanlander AV, De Meirleir L, Seneca S, Sterky FH, Darin N; ''TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.''; J Inherit Metab Dis, 2019 PubMed Europe PMC Scholia
  59. Wolf S, Janzen A, Vékony N, Martiné U, Strand D, Closs EI; ''Expression of solute carrier 7A4 (SLC7A4) in the plasma membrane is not sufficient to mediate amino acid transport activity.''; Biochem J, 2002 PubMed Europe PMC Scholia
  60. Aggarwal VS, Liao J, Bondarev A, Schimmang T, Lewandoski M, Locker J, Shanske A, Campione M, Morrow BE; ''Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.''; Hum Mol Genet, 2006 PubMed Europe PMC Scholia
  61. Takeda E, Hieda M, Katahira J, Yoneda Y; ''Phosphorylation of RanGAP1 stabilizes its interaction with Ran and RanBP1.''; Cell Struct Funct, 2005 PubMed Europe PMC Scholia
  62. Pizzuti A, Novelli G, Ratti A, Amati F, Mari A, Calabrese G, Nicolis S, Silani V, Marino B, Scarlato G, Ottolenghi S, Dallapiccola B; ''UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.''; Hum Mol Genet, 1997 PubMed Europe PMC Scholia
  63. Weitz SH, Gong M, Barr I, Weiss S, Guo F; ''Processing of microRNA primary transcripts requires heme in mammalian cells.''; Proc Natl Acad Sci U S A, 2014 PubMed Europe PMC Scholia
  64. Loppin B, Bonnefoy E, Anselme C, Laurençon A, Karr TL, Couble P; ''The histone H3.3 chaperone HIRA is essential for chromatin assembly in the male pronucleus.''; Nature, 2005 PubMed Europe PMC Scholia
  65. Metzger T, Kleiss C, Sumara I; ''CUL3 and protein kinases: insights from PLK1/KLHL22 interaction.''; Cell Cycle, 2013 PubMed Europe PMC Scholia
  66. Zhang X, Weng C, Li Y, Wang X, Jiang C, Li X, Xu Y, Chen Q, Pan L, Tang H; ''Human Bop is a novel BH3-only member of the Bcl-2 protein family.''; Protein Cell, 2012 PubMed Europe PMC Scholia
  67. Seewald MJ, Körner C, Wittinghofer A, Vetter IR; ''RanGAP mediates GTP hydrolysis without an arginine finger.''; Nature, 2002 PubMed Europe PMC Scholia
  68. Sperandeo MP, Borsani G, Incerti B, Zollo M, Rossi E, Zuffardi O, Castaldo P, Taglialatela M, Andria G, Sebastio G; ''The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.''; Genomics, 1998 PubMed Europe PMC Scholia
  69. Si ZH, Rauch D, Stoltzfus CM; ''The exon splicing silencer in human immunodeficiency virus type 1 Tat exon 3 is bipartite and acts early in spliceosome assembly.''; Mol Cell Biol, 1998 PubMed Europe PMC Scholia
  70. Xie Q, Lin T, Zhang Y, Zheng J, Bonanno JA; ''Molecular cloning and characterization of a human AIF-like gene with ability to induce apoptosis.''; J Biol Chem, 2005 PubMed Europe PMC Scholia
  71. Heisterkamp N, Groffen J, Warburton D, Sneddon TP; ''The human gamma-glutamyltransferase gene family.''; Hum Genet, 2008 PubMed Europe PMC Scholia
  72. Nahorski MS, Al-Gazali L, Hertecant J, Owen DJ, Borner GH, Chen YC, Benn CL, Carvalho OP, Shaikh SS, Phelan A, Robinson MS, Royle SJ, Woods CG; ''A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.''; Brain, 2015 PubMed Europe PMC Scholia
  73. Rosa RF, Rosa RC, Dos Santos PP, Zen PR, Paskulin GA; ''Hematological abnormalities and 22q11.2 deletion syndrome.''; Rev Bras Hematol Hemoter, 2011 PubMed Europe PMC Scholia
  74. Liu M, Aneja R, Sun X, Xie S, Wang H, Wu X, Dong JT, Li M, Joshi HC, Zhou J; ''Parkin regulates Eg5 expression by Hsp70 ubiquitination-dependent inactivation of c-Jun NH2-terminal kinase.''; J Biol Chem, 2008 PubMed Europe PMC Scholia
  75. Guillaumond F, Dardente H, Giguère V, Cermakian N; ''Differential control of Bmal1 circadian transcription by REV-ERB and ROR nuclear receptors.''; J Biol Rhythms, 2005 PubMed Europe PMC Scholia
  76. Hayashi N, Yokoyama N, Seki T, Azuma Y, Ohba T, Nishimoto T; ''RanBP1, a Ras-like nuclear G protein binding to Ran/TC4, inhibits RCC1 via Ran/TC4.''; Mol Gen Genet, 1995 PubMed Europe PMC Scholia
  77. Sellier C, Hwang VJ, Dandekar R, Durbin-Johnson B, Charlet-Berguerand N, Ander BP, Sharp FR, Angkustsiri K, Simon TJ, Tassone F; ''Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.''; PLoS One, 2014 PubMed Europe PMC Scholia
  78. Glaeser AB, Santos AS, Diniz BL, Deconte D, Rosa RFM, Zen PRG; ''Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review.''; Am J Med Genet A, 2020 PubMed Europe PMC Scholia
  79. Yaseen NR, Blobel G; ''GTP hydrolysis links initiation and termination of nuclear import on the nucleoporin nup358.''; J Biol Chem, 1999 PubMed Europe PMC Scholia
  80. Beites CL, Xie H, Bowser R, Trimble WS; ''The septin CDCrel-1 binds syntaxin and inhibits exocytosis.''; Nat Neurosci, 1999 PubMed Europe PMC Scholia
  81. Singh BB, Patel HH, Roepman R, Schick D, Ferreira PA; ''The zinc finger cluster domain of RanBP2 is a specific docking site for the nuclear export factor, exportin-1.''; J Biol Chem, 1999 PubMed Europe PMC Scholia
  82. Chen L, Fulcoli FG, Tang S, Baldini A; ''Tbx1 regulates proliferation and differentiation of multipotent heart progenitors.''; Circ Res, 2009 PubMed Europe PMC Scholia
  83. Bläser S, Röseler S, Rempp H, Bartsch I, Bauer H, Lieber M, Lessmann E, Weingarten L, Busse A, Huber M, Zieger B; ''Human endothelial cell septins: SEPT11 is an interaction partner of SEPT5.''; J Pathol, 2006 PubMed Europe PMC Scholia
  84. Umeki I, Niihori T, Abe T, Kanno SI, Okamoto N, Mizuno S, Kurosawa K, Nagasaki K, Yoshida M, Ohashi H, Inoue SI, Matsubara Y, Fujiwara I, Kure S, Aoki Y; ''Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.''; Hum Genet, 2019 PubMed Europe PMC Scholia
  85. Zhang Y, Dai J, Tang J, Zhou L, Zhou M; ''MicroRNA-649 promotes HSV-1 replication by directly targeting MALT1.''; J Med Virol, 2017 PubMed Europe PMC Scholia
  86. Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, Zieger B; ''Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202).''; Gene, 2003 PubMed Europe PMC Scholia
  87. Beck J, Maerki S, Posch M, Metzger T, Persaud A, Scheel H, Hofmann K, Rotin D, Pedrioli P, Swedlow JR, Peter M, Sumara I; ''Ubiquitylation-dependent localization of PLK1 in mitosis.''; Nat Cell Biol, 2013 PubMed Europe PMC Scholia
  88. Gottlieb S, Hanes SD, Golden JA, Oakey RJ, Budarf ML; ''Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain.''; Hum Mol Genet, 1998 PubMed Europe PMC Scholia
  89. Dykes IM, van Bueren KL, Ashmore RJ, Floss T, Wurst W, Szumska D, Bhattacharya S, Scambler PJ; ''HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.''; Circ Res, 2014 PubMed Europe PMC Scholia
  90. Gong X, Du X, Xu Y, Zheng W; ''LINC00037 Inhibits Proliferation of Renal Cell Carcinoma Cells in an Epidermal Growth Factor Receptor-Dependent Way.''; Cell Physiol Biochem, 2018 PubMed Europe PMC Scholia
  91. Urano T, Nishimori H, Han H, Furuhata T, Kimura Y, Nakamura Y, Tokino T; ''Cloning of P2XM, a novel human P2X receptor gene regulated by p53.''; Cancer Res, 1997 PubMed Europe PMC Scholia
  92. Liu H, Heath SC, Sobin C, Roos JL, Galke BL, Blundell ML, Lenane M, Robertson B, Wijsman EM, Rapoport JL, Gogos JA, Karayiorgou M; ''Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia.''; Proc Natl Acad Sci U S A, 2002 PubMed Europe PMC Scholia
  93. Song JY, Lee SH, Kim MK, Jeon BN, Cho SY, Kim KS, Hur MW; ''HIC2, a new transcription activator of SIRT1.''; FEBS Lett, 2019 PubMed Europe PMC Scholia
  94. Grondin B, Côté F, Bazinet M, Vincent M, Aubry M; ''Direct interaction of the KRAB/Cys2-His2 zinc finger protein ZNF74 with a hyperphosphorylated form of the RNA polymerase II largest subunit.''; J Biol Chem, 1997 PubMed Europe PMC Scholia
  95. Li X, Ke Q, Li Y, Liu F, Zhu G, Li F; ''DGCR6L, a novel PAK4 interaction protein, regulates PAK4-mediated migration of human gastric cancer cell via LIMK1.''; Int J Biochem Cell Biol, 2010 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128796view01:48, 22 February 2024EweitzStandardize case
120007view13:13, 11 October 2021FehrhartReverted to version '11:20, 17 September 2021' by Fehrhart
120003view15:30, 9 October 2021MlatorreModified title
119921view11:20, 17 September 2021FehrhartUpdate HIST1H4A for H4C1
116172view14:56, 15 April 2021Fehrhartadded literature reference
115785view07:45, 12 March 2021Fehrhartgraphical update
115783view16:08, 11 March 2021Fehrhartupdate in progress
115782view15:48, 11 March 2021Fehrhartupdate in progress
115781view15:46, 11 March 2021Fehrhartupdated to GRCH37
113893view11:05, 7 December 2020Fehrhartcorrected a typo
113890view18:26, 6 December 2020EgonwAdded the missing Complex Portal data source
113889view18:23, 6 December 2020EgonwUpdated the HMDB identifiers.
113876view15:55, 3 December 2020Fehrhartadded breakpoints LCR22A-D
113874view11:33, 3 December 2020Fehrhartmajor update done
113873view10:57, 3 December 2020Fehrhartupdate in progress
113872view10:48, 3 December 2020Fehrhartupdate in progress
113840view16:41, 30 November 2020Fehrhartupdate in progress
113839view16:31, 30 November 2020Fehrhartupdate in progress
113816view15:39, 27 November 2020Fehrhartupdate in progress
113815view15:10, 27 November 2020Fehrhartupdate in progress
113653view20:50, 9 November 2020FehrhartUpdate in progress
113640view15:06, 9 November 2020Fehrhartupdate in progress
113597view10:08, 4 November 2020Fehrhartupdate
113591view08:17, 4 November 2020Fehrhartupdate
113590view08:01, 4 November 2020Fehrhartupdate
113589view14:24, 3 November 2020Fehrhartupdate legend
113588view13:55, 3 November 2020FehrhartUpdate
112047view14:35, 17 September 2020FehrhartModified title
111568view12:43, 25 August 2020Fehrhartupdate in progress
111567view11:56, 25 August 2020Fehrhartupdate in progress
111564view11:16, 25 August 2020Fehrhartupdate in progress
111262view16:20, 27 July 2020FehrhartUndergoing reconstruction and completion of deleted gene list
109347view12:55, 16 March 2020L DupuisConnected unconnected line
109316view10:45, 11 March 2020FehrhartAdded DGCR5 path, aligned genes with red line.
107179view14:26, 17 September 2019MaintBotChEBI identifier normalization
106807view13:28, 17 September 2019MaintBotHMDB identifier normalization
105133view06:22, 10 July 2019Fehrhartfixed unconnected lines and SHH part of pathway
105073view17:20, 4 July 2019Victoravrfixed interactions
105072view12:57, 4 July 2019VictoravrAdded CLTC1 pathways
105049view21:44, 2 July 2019Victoravr2 added pathways for COMT
105048view20:54, 2 July 2019VictoravrAdded legend and fixed interactions
105027view16:42, 30 June 2019VictoravrDGCR8 mediated DRD2 upregulation added
105025view10:40, 29 June 2019EgonwReplaced secondary ChEBI identifiers with a primary identifiers.
104987view21:55, 27 June 2019Victoravradded pathway
104984view19:56, 27 June 2019VictoravrAdded downstream genes
104957view12:03, 27 June 2019VictoravrGP1BB downstream added
104955view10:21, 27 June 2019VictoravrAdding of gene functional descriptions
104952view07:25, 27 June 2019Fehrhartwork in progress
104941view11:53, 26 June 2019VictoravrOntology Term : 'neurological disorder pathway' added !
104940view11:50, 26 June 2019VictoravrOntology Term : 'disease pathway' added !

External references

DataNodes

View all...
NameTypeDatabase referenceComment
1-pyrroline-5-carboxylateMetaboliteCHEBI:15893 (ChEBI)
2-oxoglutaric acidMetaboliteCHEBI:30915 (ChEBI)
3-MethoxytyramineMetaboliteCHEBI:1582 (ChEBI)
4-hydroxyretinoic acidMetaboliteCHEBI:63795 (ChEBI)
4-oxo-Retinoic acidMetaboliteHMDB0006285 (HMDB)
ABHD17AP4 GeneProductENSG00000229107 (Ensembl)
ACTA2GeneProductENSG00000107796 (Ensembl)
ACTC1GeneProductENSG00000159251 (Ensembl)
AIFM3GeneProductENSG00000183773 (Ensembl)
ALDH1A2GeneProductENSG00000128918 (Ensembl)
ALDH4A1GeneProductENSG00000159423 (Ensembl)
ARVCFGeneProductENSG00000099889 (Ensembl)
ASF1AGeneProductENSG00000111875 (Ensembl)
BCRP2GeneProductENSG00000169668 (Ensembl)
BCRP5GeneProductENSG00000235062 (Ensembl)
BCRP6GeneProductENSG00000169662 (Ensembl)
BCRP7GeneProductENSG00000215544 (Ensembl)
Blood Clotting CascadePathwayWP272 (WikiPathways)
C22orf39 GeneProductENSG00000242259 (Ensembl)
CA15P1GeneProductENSG00000241527 (Ensembl)
CBX5GeneProductENSG00000094916 (Ensembl)
CCDC188GeneProductENSG00000234409 (Ensembl)
CCDC74BP1 GeneProductENSG00000250261 (Ensembl)
CDC42GeneProductENSG00000070831 (Ensembl) ONLY isoform 2, which is brain-specific; CDC42PALM
CDC45GeneProductENSG00000093009 (Ensembl)
CHRDGeneProductENSG00000090539 (Ensembl)
CLDN5GeneProductENSG00000184113 (Ensembl)
CLTCL1GeneProductENSG00000070371 (Ensembl)
COMTGeneProductENSG00000093010 (Ensembl)
CRKLGeneProductENSG00000099942 (Ensembl)
CYP26A1GeneProductENSG00000095596 (Ensembl)
CYP26B1GeneProductENSG00000003137 (Ensembl)
CYP26C1GeneProductENSG00000187553 (Ensembl)
DGCR10GeneProductENSG00000273164 (Ensembl)
DGCR11GeneProductENSG00000273311 (Ensembl)
DGCR2GeneProductENSG00000070413 (Ensembl)
DGCR5GeneProductENSG00000237517 (Ensembl)
DGCR6GeneProductENSG00000183628 (Ensembl)
DGCR6LGeneProductENSG00000128185 (Ensembl)
DGCR8GeneProductENSG00000128191 (Ensembl)
DGCR9GeneProductENSG00000273032 (Ensembl)
DL-MetanephrineMetaboliteCHEBI:89633 (ChEBI)
DOPACMetaboliteCHEBI:41941 (ChEBI)
DRD2GeneProductENSG00000149295 (Ensembl)
DROSHAGeneProductENSG00000113360 (Ensembl)
Dopamine metabolismPathwayWP2436 (WikiPathways)
DopamineMetaboliteCHEBI:18243 (ChEBI)
E2F6P1GeneProductENSG00000234764 (Ensembl)
E2F6P2GeneProductENSG00000224688 (Ensembl)
E2F6P3GeneProductENSG00000226885 (Ensembl)
EGFRGeneProductENSG00000146648 (Ensembl)
EMC10GeneProductENSG00000161671 (Ensembl)
ESS2GeneProductENSG00000100056 (Ensembl)
EpinephrineMetaboliteCHEBI:33568 (ChEBI)
FAM230BGeneProductENSG00000215498 (Ensembl)
FAM230EGeneProductENSG00000182824 (Ensembl)
FAM230FGeneProductENSG00000276095 (Ensembl)
FAM230G GeneProductENSG00000188280 (Ensembl)
FAM230HGeneProductENSG00000206142 (Ensembl)
FGF10GeneProductENSG00000070193 (Ensembl)
FGF8GeneProductENSG00000107831 (Ensembl)
FGFR1GeneProductENSG00000077782 (Ensembl)
FGFR2GeneProductENSG00000066468 (Ensembl)
FOXA2GeneProductENSG00000125798 (Ensembl)
FOXC1GeneProductENSG00000054598 (Ensembl)
FOXC2GeneProductENSG00000176692 (Ensembl)
GBX2GeneProductENSG00000168505 (Ensembl)
GGT2GeneProductENSG00000133475 (Ensembl)
GGT3PGeneProductENSG00000197421 (Ensembl)
GLUD1GeneProductENSG00000148672 (Ensembl)
GNB1LGeneProductENSG00000185838 (Ensembl)
GP1BAGeneProductENSG00000185245 (Ensembl)
GP1BBGeneProductENSG00000203618 (Ensembl)
  • Involved in Macrothrombocytopenia development
  • Responsible for Bernard-Soulier syndrome
GP1b-IX-V activation signallingPathwayWP1823 (WikiPathways)
GP5GeneProductENSG00000178732 (Ensembl)
GP9GeneProductENSG00000169704 (Ensembl)
GSC2GeneProductENSG00000063515 (Ensembl) DNA sequence-specific recognition of sites bound by the Drosophila anterior morphogen, Bicoid
HAND2GeneProductENSG00000164107 (Ensembl)
HES1GeneProductENSG00000114315 (Ensembl)
HIC2GeneProductENSG00000169635 (Ensembl)
HIRAGeneProductENSG00000100084 (Ensembl)
HIRIP3GeneProductENSG00000149929 (Ensembl)
Heart developmentPathwayWP1591 (WikiPathways)
Homovanillic acidMetaboliteCHEBI:545959 (ChEBI)
IGLL4P GeneProductENSG00000276427 (Ensembl)
Insulin SignallingPathwayWP481 (WikiPathways)
KLHL22GeneProductENSG00000099910 (Ensembl)
KRT18P5 GeneProductENSG00000236670 (Ensembl)
KRT18P62 GeneProductENSG00000233471 (Ensembl)
L-Glutamic gamma-semialdehydeMetaboliteHMDB0002104 (HMDB)
LINC00037RnaENSG00000237517 (Ensembl)
LINC00895 GeneProductENSG00000281548 (Ensembl)
LINC00896GeneProductENSG00000236499 (Ensembl)
LINC01311GeneProductENSG00000260924 (Ensembl)
LINC01637GeneProductENSG00000237476 (Ensembl)
LINC01651GeneProductENSG00000279920 (Ensembl)
LRRC74BGeneProductENSG00000187905 (Ensembl)
LZTR1GeneProductENSG00000099949 (Ensembl)
MED15GeneProductENSG00000099917 (Ensembl)
MRPL40GeneProductENSG00000185608 (Ensembl)
NKX2-5GeneProductENSG00000183072 (Ensembl)
Neurotransmitter clearancePathwayWP1870 (WikiPathways)
NorepinephrineMetaboliteCHEBI:18357 (ChEBI)
NormetanephrineMetaboliteCHEBI:89951 (ChEBI)
Notch signallingPathway268 (WikiPathways)
OATGeneProductENSG00000065154 (Ensembl)
OrnithineMetaboliteCHEBI:16176 (ChEBI)
P2RX6GeneProductENSG00000099957 (Ensembl)
P2RX6PGeneProductENSG00000206145 (Ensembl)
PAX3GeneProductENSG00000135903 (Ensembl)
PI4KAGeneProductENSG00000241973 (Ensembl)
PITX2GeneProductENSG00000164093 (Ensembl)
POM121L4PGeneProductENSG00000217261 (Ensembl)
POM121L7PGeneProductENSG00000239511 (Ensembl)
POM121L8PGeneProductENSG00000229266 (Ensembl)
PPP1CBGeneProductENSG00000213639 (Ensembl)
PPP1R26P4GeneProductENSG00000278008 (Ensembl)
PPP1R26P5GeneProductENSG00000232771 (Ensembl)
PRODHGeneProductENSG00000100033 (Ensembl)
RAF1GeneProductENSG00000132155 (Ensembl)
RANBP1GeneProductENSG00000099901 (Ensembl)
RAS/MAPK signal transductionPathwayWP2735 (WikiPathways)
RIMBP3BGeneProductENSG00000274600 (Ensembl)
RN7SKP63GeneProductENSG00000200057 (Ensembl)
RN7SL168P GeneProductENSG00000244296 (Ensembl)
RN7SL812P GeneProductENSG00000242876 (Ensembl)
RNU6-225P GeneProductENSG00000207343 (Ensembl)
RNY1P9 GeneProductENSG00000255156 (Ensembl)
RTL10GeneProductENSG00000215012 (Ensembl)
RTN4RGeneProductENSG00000040608 (Ensembl)
Retinoic acidMetaboliteCHEBI:6067 (ChEBI)
SCARF2GeneProductENSG00000244486 (Ensembl)
SEPTIN5 GeneProductENSG00000184702 (Ensembl)
SERPIND1GeneProductENSG00000099937 (Ensembl)
SHHGeneProductENSG00000164690 (Ensembl)
SHOC2GeneProductENSG00000108061 (Ensembl)
SLC25A1GeneProductENSG00000100075 (Ensembl)
  • Altered mitochondrial metabolism
  • Causative gene for Combined D-2- and L-2-hydroxyglutaric aciduria
SLC2A4GeneProductENSG00000181856 (Ensembl)
SLC7A4GeneProductENSG00000099960 (Ensembl)
SLC9A3P2 GeneProductENSG00000238125 (Ensembl)
SMPD4P1 GeneProductENSG00000223553 (Ensembl)
SNAP29GeneProductENSG00000099940 (Ensembl)
SNORA77B GeneProductENSG00000264346 (Ensembl)
SRFGeneProductENSG00000112658 (Ensembl)
TANGO2GeneProductENSG00000183597 (Ensembl)
TBX1GeneProductENSG00000184058 (Ensembl)
TCA cyclePathwayWP78 (WikiPathways)
THAP7GeneProductENSG00000184436 (Ensembl)
TMEM191AGeneProductENSG00000226287 (Ensembl)
TRMT2AGeneProductENSG00000099899 (Ensembl)
TSKSGeneProductENSG00000126467 (Ensembl)
TSSK1AGeneProductENSG00000231086 (Ensembl)
TSSK2GeneProductENSG00000206203 (Ensembl)
TUBA3FPGeneProductENSG00000161149 (Ensembl)
TUBA3GPGeneProductENSG00000249680 (Ensembl)
TXNRD2GeneProductENSG00000184470 (Ensembl)
Translocation of SLC2A4 to the plasma membrane PathwayWP2777 (WikiPathways)
UFD1GeneProductENSG00000070010 (Ensembl)
USP41GeneProductENSG00000161133 (Ensembl)
Urea cyclePathwayWP497 (WikiPathways)
VWFGeneProductENSG00000110799 (Ensembl) Type your comment heref
ZDHHC8GeneProductENSG00000099904 (Ensembl)
ZNF74GeneProductENSG00000185252 (Ensembl)
citrateMetaboliteCHEBI:133748 (ChEBI) Cytplasm citrate
glutamateMetaboliteCHEBI:14321 (ChEBI)
glutamineMetaboliteCHEBI:28300 (ChEBI)
hsa-miR-150RnaMIMAT0000451 (miRBase mature sequence)
hsa-miR-185RnaMIMAT0000455 (miRBase mature sequence)
hsa-miR-194-1RnaMIMAT0000460 (miRBase mature sequence)
hsa-miR-3618RnaMIMAT0017998 (miRBase mature sequence)
hsa-miR-363RnaMIMAT0000707 (miRBase mature sequence)
hsa-miR-9-5pRnaMIRT437986 (miRBase mature sequence) NEEDS VERIFICATION! assumption based on study finding dgcr8 deletion increases drd2 expression which is only a target to hsa-miR-9 according to mirtarbase
hsa-mir-1286RnaMIMAT0005877 (miRBase mature sequence)
hsa-mir-1306RnaMI0006443 (miRBase Sequence)
hsa-mir-4761RnaMI0017402 (miRBase Sequence)
hsa-mir-649RnaMIMAT0003319 (miRBase mature sequence)
hsa-mir-6816RnaMI0022661 (miRBase Sequence)
prolineMetaboliteCHEBI:26271 (ChEBI)
retinalMetaboliteCHEBI:15035 (ChEBI)
riluzoleMetaboliteCHEBI:8863 (ChEBI)

Annotated Interactions

No annotated interactions

Personal tools