22q11.2 copy number variation syndrome (WP4657)

22q11 deletion syndrome
last edited

Authors

Fehrhart, Victoravr, Egonw, MaintBot, L Dupuis, and Mlatorre

Cited In

Organism

Homo sapiens

Communities

Rare Diseases

Annotations

Pathway Ontology: disease pathway neurological disorder pathway

Disease Ontology: velocardiofacial syndrome

Participants

Label Type Compact Identifier
FAM230E GeneProduct ensembl:ENSG00000182824
DGCR10 GeneProduct ensembl:ENSG00000273164
CA15P1 GeneProduct ensembl:ENSG00000241527
DGCR11 GeneProduct ensembl:ENSG00000273311
TSSK1A GeneProduct ensembl:ENSG00000231086
BCRP2 GeneProduct ensembl:ENSG00000169668
POM121L7P GeneProduct ensembl:ENSG00000239511
Heparin Metabolite pubchem.compound:22833565
ABHD17AP4 GeneProduct ensembl:ENSG00000229107
ornithine Metabolite hmdb:HMDB0000214
GATOR1 complex Complex complexportal:CPX-6226
TP53 GeneProduct ensembl:ENSG00000141510
MAG GeneProduct ensembl:ENSG00000105695
Mitochondrial translation Pathway wikipathways:WP3310
RANGAP1 GeneProduct ensembl:ENSG00000100401
PLK1 GeneProduct ensembl:ENSG00000166851
1-phosphatidyl-1D-myo-inositol(1−) Metabolite chebi:57880
tRNA modification in the nucleus and cytosol Pathway wikipathways:WP3561
KRT18P62 GeneProduct ensembl:ENSG00000233471
Cell junction organization Pathway wikipathways:WP1793
PRKN GeneProduct ensembl:ENSG00000185345
BCL2 GeneProduct ensembl:ENSG00000171791
LINC01311 GeneProduct ensembl:ENSG00000260924
RBX1 GeneProduct ensembl:ENSG00000100387
XPO1 GeneProduct ensembl:ENSG00000082898
p75 NTR receptor-mediated signalling Pathway wikipathways:WP4443
RNY1P9 GeneProduct ensembl:ENSG00000255156
POLR2A GeneProduct ensembl:ENSG00000181222
P2RX6P GeneProduct ensembl:ENSG00000206145
Syntaxin GeneProduct pfam:PF00804
RN7SL168P GeneProduct ensembl:ENSG00000244296
Complement and Coagulation Cascades Pathway wikipathways:WP558
PAK4 GeneProduct ensembl:ENSG00000130669
KRT18P5 GeneProduct ensembl:ENSG00000236670
CLDN1 GeneProduct ensembl:ENSG00000163347
NCOR1 GeneProduct ensembl:ENSG00000141027
RORC GeneProduct ensembl:ENSG00000143365
nuclear transport Pathway wikidata:Q994741
39S mitochondrial large ribosomal subunit Complex complexportal:CPX-5226
1-phosphatidyl-1D-myo-inositol 4-phosphate(3−) Metabolite chebi:58178
NPRL3 GeneProduct ensembl:ENSG00000103148
CLDN3 GeneProduct ensembl:ENSG00000165215
CUL3 GeneProduct ensembl:ENSG00000036257
DGCR9 GeneProduct ensembl:ENSG00000273032
arginine Metabolite chebi:29016
RNU6-225P GeneProduct ensembl:ENSG00000207343
RCC1 GeneProduct ensembl:ENSG00000180198
POM121L4P GeneProduct ensembl:ENSG00000217261
LINC01637 GeneProduct ensembl:ENSG00000237476
Apoptosis Pathway wikipathways:WP254
ATP(4−) Metabolite chebi:30616
SMPD4P1 GeneProduct ensembl:ENSG00000223553
SREBF1 GeneProduct ensembl:ENSG00000072310
TNPO1 GeneProduct ensembl:ENSG00000083312
Reelin signalling pathway Pathway wikipathways:WP4083
Purinergic signaling Pathway wikipathways:WP4900
RTN4 GeneProduct ensembl:ENSG00000115310
HDAC3 GeneProduct ensembl:ENSG00000171720
DEPDC5 GeneProduct ensembl:ENSG00000100150
SLC9A3P2 GeneProduct ensembl:ENSG00000238125
Dermatan sulfate Metabolite chembl.compound:CHEMBL1909290
ARNTL GeneProduct ensembl:ENSG00000133794
FAM230G GeneProduct ensembl:ENSG00000188280
TUBA3GP GeneProduct ensembl:ENSG00000249680
lysine Metabolite chebi:25094
LINC00895 GeneProduct ensembl:ENSG00000281548
BCRP5 GeneProduct ensembl:ENSG00000235062
cellular proliferation Pathway wikidata:Q189101
RELN GeneProduct ensembl:ENSG00000189056
IGLL4P GeneProduct ensembl:ENSG00000276427
RAN GeneProduct ensembl:ENSG00000132341
SREBF2 GeneProduct ensembl:ENSG00000198911
Activation of gene expressionby SREBF (SREBP) Pathway wikipathways:WP2706
SNORA77B GeneProduct ensembl:ENSG00000264346
SEPTIN8 GeneProduct ensembl:ENSG00000164402
TUBA3FP GeneProduct ensembl:ENSG00000161149
mRNA Processing Pathway wikipathways:WP411
HIST1H4A GeneProduct ensembl:ENSG00000278637
RN7SL812P GeneProduct ensembl:ENSG00000242876
Tight junction Pathway wikipathways:WP1793
MALT1 GeneProduct ensembl:ENSG00000172175
ADP(3−) Metabolite chebi:456216
TMEM191A GeneProduct ensembl:ENSG00000226287
C22orf39 GeneProduct ensembl:ENSG00000242259
BCR(KLHL22) E3 ubiquitin ligase complex Complex None
G Protein Signalingpathways Pathway wikipathways:WP35
CCDC74BP1 GeneProduct ensembl:ENSG00000250261
ATP Metabolite chebi:15422
NPRL2 GeneProduct ensembl:ENSG00000114388
CDH15 GeneProduct ensembl:ENSG00000129910
SEPTIN11 GeneProduct ensembl:ENSG00000138758
hsa-miR-9-5p Rna mirbase.mature:MIRT437986
Insulin Signalling Pathway wikipathways:WP481
VWF GeneProduct ensembl:ENSG00000110799
Dopamine metabolism Pathway wikipathways:WP2436
Blood Clotting Cascade Pathway wikipathways:WP272
Heart development Pathway wikipathways:WP1591
GP1BB GeneProduct ensembl:ENSG00000203618
GP1BA GeneProduct ensembl:ENSG00000185245
Neurotransmitter clearance Pathway wikipathways:WP1870
DRD2 GeneProduct ensembl:ENSG00000149295
GP5 GeneProduct ensembl:ENSG00000178732
LINC00037 Rna ensembl:ENSG00000237517
GP9 GeneProduct ensembl:ENSG00000169704
Translocation of SLC2A4 to the plasma membrane Pathway wikipathways:WP2777
SERPIND1 GeneProduct ensembl:ENSG00000099937
GLUD1 GeneProduct ensembl:ENSG00000148672
CCDC188 GeneProduct ensembl:ENSG00000234409
hsa-mir-4761 Rna mirbase:MI0017402
ARVCF GeneProduct ensembl:ENSG00000099889
RAF1 GeneProduct ensembl:ENSG00000132155
MED15 GeneProduct ensembl:ENSG00000099917
ALDH4A1 GeneProduct ensembl:ENSG00000159423
KLHL22 GeneProduct ensembl:ENSG00000099910
LZTR1 GeneProduct ensembl:ENSG00000099949
UFD1 GeneProduct ensembl:ENSG00000070010
2-oxoglutaric acid Metabolite chebi:30915
THAP7 GeneProduct ensembl:ENSG00000184436
SLC7A4 GeneProduct ensembl:ENSG00000099960
DGCR6L GeneProduct ensembl:ENSG00000128185
citrate Metabolite chebi:133748
L-Glutamic gamma-semialdehyde Metabolite hmdb:HMDB0002104
LRRC74B GeneProduct ensembl:ENSG00000187905
OAT GeneProduct ensembl:ENSG00000065154
TSSK2 GeneProduct ensembl:ENSG00000206203
RAF1 GeneProduct ensembl:ENSG00000132155
hsa-mir-1286 Rna mirbase.mature:MIMAT0005877
HIRIP3 GeneProduct ensembl:ENSG00000149929
proline Metabolite chebi:26271
HAND2 GeneProduct ensembl:ENSG00000164107
SHOC2 GeneProduct ensembl:ENSG00000108061
RTN4R GeneProduct ensembl:ENSG00000040608
CDC45 GeneProduct ensembl:ENSG00000093009
SLC2A4 GeneProduct ensembl:ENSG00000181856
SEPTIN5 GeneProduct ensembl:ENSG00000184702
RAS/MAPK signal transduction Pathway wikipathways:WP2735
TANGO2 GeneProduct ensembl:ENSG00000183597
DGCR2 GeneProduct ensembl:ENSG00000070413
hsa-miR-3618 Rna mirbase.mature:MIMAT0017998
LINC00896 GeneProduct ensembl:ENSG00000236499
Urea cycle Pathway wikipathways:WP497
GSC2 GeneProduct ensembl:ENSG00000063515
CLDN5 GeneProduct ensembl:ENSG00000184113
GNB1L GeneProduct ensembl:ENSG00000185838
Ornithine Metabolite chebi:16176
AIFM3 GeneProduct ensembl:ENSG00000183773
TXNRD2 GeneProduct ensembl:ENSG00000184470
RANBP1 GeneProduct ensembl:ENSG00000099901
glutamine Metabolite chebi:28300
RTL10 GeneProduct ensembl:ENSG00000215012
ZNF74 GeneProduct ensembl:ENSG00000185252
PPP1CB GeneProduct ensembl:ENSG00000213639
P2RX6 GeneProduct ensembl:ENSG00000099957
ESS2 GeneProduct ensembl:ENSG00000100056
glutamate Metabolite chebi:14321
CBX5 GeneProduct ensembl:ENSG00000094916
TCA cycle Pathway wikipathways:WP78
TRMT2A GeneProduct ensembl:ENSG00000099899
PI4KA GeneProduct ensembl:ENSG00000241973
ASF1A GeneProduct ensembl:ENSG00000111875
MRPL40 GeneProduct ensembl:ENSG00000185608
hsa-mir-6816 Rna mirbase:MI0022661
USP41 GeneProduct ensembl:ENSG00000161133
riluzole Metabolite chebi:8863
CLTCL1 GeneProduct ensembl:ENSG00000070371
HIRA GeneProduct ensembl:ENSG00000100084
hsa-mir-1306 Rna mirbase:MI0006443
PAX3 GeneProduct ensembl:ENSG00000135903
TSKS GeneProduct ensembl:ENSG00000126467
hsa-mir-649 Rna mirbase.mature:MIMAT0003319
FGF10 GeneProduct ensembl:ENSG00000070193
SLC25A1 GeneProduct ensembl:ENSG00000100075
CRKL GeneProduct ensembl:ENSG00000099942
1-pyrroline-5-carboxylate Metabolite chebi:15893
SCARF2 GeneProduct ensembl:ENSG00000244486
retinal Metabolite chebi:15035
EMC10 GeneProduct ensembl:ENSG00000161671
Normetanephrine Metabolite chebi:89951
Homovanillic acid Metabolite chebi:545959
Retinoic acid Metabolite chebi:6067
SRF GeneProduct ensembl:ENSG00000112658
DROSHA GeneProduct ensembl:ENSG00000113360
FOXA2 GeneProduct ensembl:ENSG00000125798
hsa-miR-194-1 Rna mirbase.mature:MIMAT0000460
PRODH GeneProduct ensembl:ENSG00000100033
FGF8 GeneProduct ensembl:ENSG00000107831
CYP26B1 GeneProduct ensembl:ENSG00000003137
4-oxo-Retinoic acid Metabolite hmdb:HMDB0006285
COMT GeneProduct ensembl:ENSG00000093010
CHRD GeneProduct ensembl:ENSG00000090539
FOXC1 GeneProduct ensembl:ENSG00000054598
CRKL GeneProduct ensembl:ENSG00000099942
SHH GeneProduct ensembl:ENSG00000164690
Norepinephrine Metabolite chebi:18357
CYP26A1 GeneProduct ensembl:ENSG00000095596
Dopamine Metabolite chebi:18243
PITX2 GeneProduct ensembl:ENSG00000164093
ZDHHC8 GeneProduct ensembl:ENSG00000099904
FGF8 GeneProduct ensembl:ENSG00000107831
FGFR2 GeneProduct ensembl:ENSG00000066468
DGCR8 GeneProduct ensembl:ENSG00000128191
DL-Metanephrine Metabolite chebi:89633
Epinephrine Metabolite chebi:33568
TBX1 GeneProduct ensembl:ENSG00000184058
hsa-miR-185 Rna mirbase.mature:MIMAT0000455
CYP26C1 GeneProduct ensembl:ENSG00000187553
FOXC2 GeneProduct ensembl:ENSG00000176692
Retinoic acid Metabolite chebi:6067
FGFR1 GeneProduct ensembl:ENSG00000077782
4-hydroxyretinoic acid Metabolite chebi:63795
hsa-miR-363 Rna mirbase.mature:MIMAT0000707
NKX2-5 GeneProduct ensembl:ENSG00000183072
hsa-miR-150 Rna mirbase.mature:MIMAT0000451
ALDH1A2 GeneProduct ensembl:ENSG00000128918
DOPAC Metabolite chebi:41941
3-Methoxytyramine Metabolite chebi:1582
SNAP29 GeneProduct ensembl:ENSG00000099940
FGFR2 GeneProduct ensembl:ENSG00000066468
FGFR1 GeneProduct ensembl:ENSG00000077782
CDC42 GeneProduct ensembl:ENSG00000070831
DGCR8 GeneProduct ensembl:ENSG00000128191
hsa-miR-185 Rna mirbase.mature:MIMAT0000455
HES1 GeneProduct ensembl:ENSG00000114315
HES1 GeneProduct ensembl:ENSG00000114315
GBX2 GeneProduct ensembl:ENSG00000168505
Notch signalling Pathway wikipathways:268
GP1BB GeneProduct ensembl:ENSG00000203618
RAF1 GeneProduct ensembl:ENSG00000132155
citrate Metabolite chebi:133748
TCA cycle Pathway wikipathways:WP78
GP1b-IX-V activation signalling Pathway wikipathways:WP1823
ACTA2 GeneProduct ensembl:ENSG00000107796
ACTC1 GeneProduct ensembl:ENSG00000159251
Dopamine Metabolite chebi:18243
FOXA2 GeneProduct ensembl:ENSG00000125798
FOXC1 GeneProduct ensembl:ENSG00000054598
FOXC2 GeneProduct ensembl:ENSG00000176692
TBX1 GeneProduct ensembl:ENSG00000184058
DGCR5 GeneProduct ensembl:ENSG00000237517
EGFR GeneProduct ensembl:ENSG00000146648
TSKS GeneProduct ensembl:ENSG00000126467
BCRP7 GeneProduct ensembl:ENSG00000215544
RORC Protein uniprot:P51449
SEPTIN5 GeneProduct ensembl:ENSG00000184702
SEPTIN5 GeneProduct ensembl:ENSG00000184702
RANBP1 GeneProduct ensembl:ENSG00000099901
KPNB1 GeneProduct ensembl:ENSG00000108424
POLR2A GeneProduct ensembl:ENSG00000181222
KLHL22 GeneProduct ensembl:ENSG00000099910
PLK1 GeneProduct ensembl:ENSG00000166851
DEPDC5 GeneProduct ensembl:ENSG00000100150
DEPDC5 GeneProduct ensembl:ENSG00000100150
P2RX6 Protein uniprot:O15547
ornithine Metabolite hmdb:HMDB0000214
arginine Metabolite chebi:29016
lysine Metabolite chebi:25094

References

  1. 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 Jun 25;247(6):661–9. PubMed Europe PMC Scholia
  2. 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 Feb 15;14(4):705–15. PubMed Europe PMC Scholia
  3. Wong K, Cantley LC. Cloning and characterization of a human phosphatidylinositol 4-kinase. J Biol Chem. 1994 Nov 18;269(46):28878–84. PubMed Europe PMC Scholia
  4. 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 Nov;16(11):6372–84. PubMed Europe PMC Scholia
  5. Pizzuti A, Novelli G, Ratti A, Amati F, Mari A, Calabrese G, et al. UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet. 1997 Feb;6(2):259–65. PubMed Europe PMC Scholia
  6. Urano T, Nishimori H, Han H, Furuhata T, Kimura Y, Nakamura Y, et al. Cloning of P2XM, a novel human P2X receptor gene regulated by p53. Cancer Res. 1997 Aug 1;57(15):3281–7. PubMed Europe PMC Scholia
  7. 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 Oct 31;272(44):27877–85. PubMed Europe PMC Scholia
  8. Sperandeo MP, Borsani G, Incerti B, Zollo M, Rossi E, Zuffardi O, et al. The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome. Genomics. 1998 Apr 15;49(2):230–6. PubMed Europe PMC Scholia
  9. 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 Sep;7(9):1497–505. PubMed Europe PMC Scholia
  10. 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 Sep;18(9):5404–13. PubMed Europe PMC Scholia
  11. Lorain S, Quivy JP, Monier-Gavelle F, Scamps C, Lécluse Y, Almouzni G, et al. Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA. Mol Cell Biol. 1998 Sep;18(9):5546–56. PubMed Europe PMC Scholia
  12. 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 Sep;20(1):74–7. PubMed Europe PMC Scholia
  13. 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 Oct 15;53(2):146–54. PubMed Europe PMC Scholia
  14. 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 Feb 19;283(5405):1158–61. PubMed Europe PMC Scholia
  15. Beites CL, Xie H, Bowser R, Trimble WS. The septin CDCrel-1 binds syntaxin and inhibits exocytosis. Nat Neurosci. 1999 May;2(5):434–9. PubMed Europe PMC Scholia
  16. Yaseen NR, Blobel G. GTP hydrolysis links initiation and termination of nuclear import on the nucleoporin nup358. J Biol Chem. 1999 Sep 10;274(37):26493–502. PubMed Europe PMC Scholia
  17. 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 Dec 24;274(52):37370–8. PubMed Europe PMC Scholia
  18. Plafker K, Macara IG. Facilitated nucleocytoplasmic shuttling of the Ran binding protein RanBP1. Mol Cell Biol. 2000 May;20(10):3510–21. PubMed Europe PMC Scholia
  19. Kaufmann U, Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, et al. The armadillo repeat region targets ARVCF to cadherin-based cellular junctions. J Cell Sci. 2000 Nov;113 ( Pt 22):4121–35. PubMed Europe PMC Scholia
  20. Fournier AE, GrandPre T, Strittmatter SM. Identification of a receptor mediating Nogo-66 inhibition of axonal regeneration. Nature. 2001 Jan 18;409(6818):341–6. PubMed Europe PMC Scholia
  21. Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S, et al. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. Genomics. 2001 Sep;77(1–2):65–70. PubMed Europe PMC Scholia
  22. Takase K, Ohtsuki T, Migita O, Toru M, Inada T, Yamakawa-Kobayashi K, et al. Association of ZNF74 gene genotypes with age-at-onset of schizophrenia. Schizophr Res. 2001 Dec 1;52(3):161–5. PubMed Europe PMC Scholia
  23. Seewald MJ, Körner C, Wittinghofer A, Vetter IR. RanGAP mediates GTP hydrolysis without an arginine finger. Nature. 2002 Feb 7;415(6872):662–6. PubMed Europe PMC Scholia
  24. Liu H, Heath SC, Sobin C, Roos JL, Galke BL, Blundell ML, et al. 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 Mar 19;99(6):3717–22. PubMed Europe PMC Scholia
  25. Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, et al. Human septin-septin interaction: CDCrel-1 partners with KIAA0202. FEBS Lett. 2002 May 22;519(1–3):169–72. PubMed Europe PMC Scholia
  26. 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 Jun 15;364(Pt 3):767–75. PubMed Europe PMC Scholia
  27. Vitelli F, Taddei I, Morishima M, Meyers EN, Lindsay EA, Baldini A. A genetic link between Tbx1 and fibroblast growth factor signaling. Development. 2002 Oct;129(19):4605–11. PubMed Europe PMC Scholia
  28. 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 Nov 7;420(6911):74–8. PubMed Europe PMC Scholia
  29. Yamagishi H, Maeda J, Hu T, McAnally J, Conway SJ, Kume T, et al. Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev. 2003 Jan 15;17(2):269–81. PubMed Europe PMC Scholia
  30. Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, et al. Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202). Gene. 2003 Jul 17;312:313–20. PubMed Europe PMC Scholia
  31. 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 Nov;285(5):L1166-78. PubMed Europe PMC Scholia
  32. Choi P, Snyder H, Petrucelli L, Theisler C, Chong M, Zhang Y, et al. SEPT5_v2 is a parkin-binding protein. Brain Res Mol Brain Res. 2003 Oct 7;117(2):179–89. PubMed Europe PMC Scholia
  33. Hao Z, Jha KN, Kim Y-H, Vemuganti S, Westbrook VA, Chertihin O, et al. 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 Jun;10(6):433–44. PubMed Europe PMC Scholia
  34. 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 Jun;23(6):540–5. PubMed Europe PMC Scholia
  35. Xu H, Morishima M, Wylie JN, Schwartz RJ, Bruneau BG, Lindsay EA, et al. Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract. Development. 2004 Jul;131(13):3217–27. PubMed Europe PMC Scholia
  36. 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 Feb 25;280(8):7346–58. PubMed Europe PMC Scholia
  37. Zhang R, Poustovoitov MV, Ye X, Santos HA, Chen W, Daganzo SM, et al. Formation of MacroH2A-containing senescence-associated heterochromatin foci and senescence driven by ASF1a and HIRA. Dev Cell. 2005 Jan;8(1):19–30. PubMed Europe PMC Scholia
  38. Roberts C, Ivins SM, James CT, Scambler PJ. Retinoic acid down-regulates Tbx1 expression in vivo and in vitro. Dev Dyn. 2005 Apr;232(4):928–38. PubMed Europe PMC Scholia
  39. 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 May 20;280(20):19673–81. PubMed Europe PMC Scholia
  40. Akashi M, Takumi T. The orphan nuclear receptor RORalpha regulates circadian transcription of the mammalian core-clock Bmal1. Nat Struct Mol Biol. 2005 May;12(5):441–8. PubMed Europe PMC Scholia
  41. 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 Aug 1;284(1):233–45. PubMed Europe PMC Scholia
  42. Ivins S, Lammerts van Beuren K, Roberts C, James C, Lindsay E, Baldini A, et al. Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1. Dev Biol. 2005 Sep 15;285(2):554–69. PubMed Europe PMC Scholia
  43. 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 Oct 27;437(7063):1386–90. PubMed Europe PMC Scholia
  44. 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 Oct;20(5):391–403. PubMed Europe PMC Scholia
  45. Moon AM, Guris DL, Seo J, Li L, Hammond J, Talbot A, et al. Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes. Dev Cell. 2006 Jan;10(1):71–80. PubMed Europe PMC Scholia
  46. Takeda E, Hieda M, Katahira J, Yoneda Y. Phosphorylation of RanGAP1 stabilizes its interaction with Ran and RanBP1. Cell Struct Funct. 2005;30(2):69–80. PubMed Europe PMC Scholia
  47. 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 Feb 17;21(4):581–7. PubMed Europe PMC Scholia
  48. 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 Apr;133(8):1565–73. PubMed Europe PMC Scholia
  49. Bläser S, Röseler S, Rempp H, Bartsch I, Bauer H, Lieber M, et al. Human endothelial cell septins: SEPT11 is an interaction partner of SEPT5. J Pathol. 2006 Sep;210(1):103–10. PubMed Europe PMC Scholia
  50. Yang F, Vought BW, Satterlee JS, Walker AK, Jim Sun Z-Y, Watts JL, et al. An ARC/Mediator subunit required for SREBP control of cholesterol and lipid homeostasis. Nature. 2006 Aug 10;442(7103):700–4. PubMed Europe PMC Scholia
  51. Aggarwal VS, Liao J, Bondarev A, Schimmang T, Lewandoski M, Locker J, et al. Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. Hum Mol Genet. 2006 Nov 1;15(21):3219–28. PubMed Europe PMC Scholia
  52. Liu N, Olson EN. Coactivator control of cardiovascular growth and remodeling. Curr Opin Cell Biol. 2006 Dec;18(6):715–22. PubMed Europe PMC Scholia
  53. Williams HJ, Owen MJ, O’Donovan MC. Is COMT a susceptibility gene for schizophrenia? Schizophr Bull. 2007 May;33(3):635–41. PubMed Europe PMC Scholia
  54. Williams NM, Glaser B, Norton N, Williams H, Pierce T, Moskvina V, et al. Strong evidence that GNB1L is associated with schizophrenia. Hum Mol Genet. 2008 Feb 15;17(4):555–66. PubMed Europe PMC Scholia
  55. Stark KL, Xu B, Bagchi A, Lai W-S, Liu H, Hsu R, et al. Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model. Nat Genet. 2008 Jun;40(6):751–60. PubMed Europe PMC Scholia
  56. Liu M, Aneja R, Sun X, Xie S, Wang H, Wu X, et al. Parkin regulates Eg5 expression by Hsp70 ubiquitination-dependent inactivation of c-Jun NH2-terminal kinase. J Biol Chem. 2008 Dec 19;283(51):35783–8. PubMed Europe PMC Scholia
  57. Ishiguro H, Koga M, Horiuchi Y, Noguchi E, Morikawa M, Suzuki Y, et al. Supportive evidence for reduced expression of GNB1L in schizophrenia. Schizophr Bull. 2010 Jul;36(4):756–65. PubMed Europe PMC Scholia
  58. Choi M, Klingensmith J. Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. PLoS Genet. 2009 Feb;5(2):e1000395. PubMed Europe PMC Scholia
  59. Vassilopoulos S, Esk C, Hoshino S, Funke BH, Chen C-Y, Plocik AM, et al. A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolism. Science. 2009 May 29;324(5931):1192–6. PubMed Europe PMC Scholia
  60. Chen L, Fulcoli FG, Tang S, Baldini A. Tbx1 regulates proliferation and differentiation of multipotent heart progenitors. Circ Res. 2009 Oct 23;105(9):842–51. PubMed Europe PMC Scholia
  61. 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 Jan;42(1):70–9. PubMed Europe PMC Scholia
  62. Maerki S, Olma MH, Staubli T, Steigemann P, Gerlich DW, Quadroni M, et al. The Cul3-KLHL21 E3 ubiquitin ligase targets aurora B to midzone microtubules in anaphase and is required for cytokinesis. J Cell Biol. 2009 Dec 14;187(6):791–800. PubMed Europe PMC Scholia
  63. van Bueren KL, Papangeli I, Rochais F, Pearce K, Roberts C, Calmont A, et al. Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome. Dev Biol. 2010 Apr 15;340(2):369–80. PubMed Europe PMC Scholia
  64. Bedeschi MF, Colombo L, Mari F, Hofmann K, Rauch A, Gentilin B, et al. 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;1(5):239–45. PubMed Europe PMC Scholia
  65. Zhang X, Weng C, Li Y, Wang X, Jiang C, Li X, et al. Human Bop is a novel BH3-only member of the Bcl-2 protein family. Protein Cell. 2012 Oct;3(10):790–801. PubMed Europe PMC Scholia
  66. McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, et al. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J Med Genet. 2013 Feb;50(2):80–90. PubMed Europe PMC Scholia
  67. Rosa RFM, Rosa RCM, Dos Santos PPA, Zen PRG, Paskulin GA. Hematological abnormalities and 22q11.2 deletion syndrome. Rev Bras Hematol Hemoter. 2011;33(2):151–4. PubMed Europe PMC Scholia
  68. Xu B, Hsu P-K, Stark KL, Karayiorgou M, Gogos JA. Derepression of a neuronal inhibitor due to miRNA dysregulation in a schizophrenia-related microdeletion. Cell. 2013 Jan 17;152(1–2):262–75. PubMed Europe PMC Scholia
  69. de la Morena MT, Eitson JL, Dozmorov IM, Belkaya S, Hoover AR, Anguiano E, et al. Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome. Clin Immunol. 2013 Apr;147(1):11–22. PubMed Europe PMC Scholia
  70. Beck J, Maerki S, Posch M, Metzger T, Persaud A, Scheel H, et al. Ubiquitylation-dependent localization of PLK1 in mitosis. Nat Cell Biol. 2013 Apr;15(4):430–9. PubMed Europe PMC Scholia
  71. Metzger T, Kleiss C, Sumara I. CUL3 and protein kinases: insights from PLK1/KLHL22 interaction. Cell Cycle. 2013 Jul 15;12(14):2291–6. PubMed Europe PMC Scholia
  72. 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 Feb 4;111(5):1861–6. PubMed Europe PMC Scholia
  73. Shi S, Leites C, He D, Schwartz D, Moy W, Shi J, et al. 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 May 9;289(19):13434–44. PubMed Europe PMC Scholia
  74. Chun S, Westmoreland JJ, Bayazitov IT, Eddins D, Pani AK, Smeyne RJ, et al. Specific disruption of thalamic inputs to the auditory cortex in schizophrenia models. Science. 2014 Jun 6;344(6188):1178–82. PubMed Europe PMC Scholia
  75. Sellier C, Hwang VJ, Dandekar R, Durbin-Johnson B, Charlet-Berguerand N, Ander BP, et al. Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome. PLoS One. 2014 Aug 1;9(8):e103884. PubMed Europe PMC Scholia
  76. Nahorski MS, Al-Gazali L, Hertecant J, Owen DJ, Borner GHH, Chen Y-C, et al. A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development. Brain. 2015 Aug;138(Pt 8):2147–60. PubMed Europe PMC Scholia
  77. Zhang Y, Dai J, Tang J, Zhou L, Zhou M. MicroRNA-649 promotes HSV-1 replication by directly targeting MALT1. J Med Virol. 2017 Jun;89(6):1069–79. PubMed Europe PMC Scholia
  78. Molinard-Chenu A, Dayer A. The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis. Biol Psychiatry. 2018 Apr 15;83(8):692–706. PubMed Europe PMC Scholia
  79. 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;45(2):523–36. PubMed Europe PMC Scholia
  80. Takada I, Tsuchiya M, Yanaka K, Hidano S, Takahashi S, Kobayashi T, et al. Ess2 bridges transcriptional regulators and spliceosomal complexes via distinct interacting domains. Biochem Biophys Res Commun. 2018 Mar 4;497(2):597–604. PubMed Europe PMC Scholia
  81. 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 Apr 19;11:2259–67. PubMed Europe PMC Scholia
  82. Chen J, Ou Y, Yang Y, Li W, Xu Y, Xie Y, et al. KLHL22 activates amino-acid-dependent mTORC1 signalling to promote tumorigenesis and ageing. Nature. 2018 May;557(7706):585–9. PubMed Europe PMC Scholia
  83. Umeki I, Niihori T, Abe T, Kanno S-I, Okamoto N, Mizuno S, et al. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. Hum Genet. 2019 Jan;138(1):21–35. PubMed Europe PMC Scholia
  84. Chang Y-H, 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 Jan 8;508(2):410–5. PubMed Europe PMC Scholia
  85. Belangero SI, Ota VK, Gadelha A, Berberian AA, Assunção-Leme IB de, Noto C, et al. DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis. Psychiatry Res. 2019 Apr;274:391–4. PubMed Europe PMC Scholia
  86. Jennions E, Hedberg-Oldfors C, Berglund A-K, Kollberg G, Törnhage C-J, Eklund EA, et al. TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism. J Inherit Metab Dis. 2019 Sep;42(5):898–908. PubMed Europe PMC Scholia
  87. Yi Z, Ouyang J, Sun W, Li S, Xiao X, Zhang Q. Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa. EBioMedicine. 2020 Jun;56:102792. PubMed Europe PMC Scholia
  88. 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 Nov;182(11):2624–31. PubMed Europe PMC Scholia