22q11.2 copy number variation syndrome (WP4657)

Homo sapiens

22q11 deletion syndrome


Friederike Ehrhart , Victor Avramov , Egon Willighagen , Lauren J. Dupuis , Magda M. Latorre , and Eric Weitz


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Homo sapiens


Rare Diseases


Disease Ontology

velocardiofacial syndrome

Pathway Ontology

disease pathway neurological disorder pathway


Label Type Compact URI Comment
Heparin Metabolite pubchem.compound:22833565
Ornithine Metabolite hmdb:HMDB0000214
1-phosphatidyl-1D-myo-inositol(1−) Metabolite chebi:57880
1-phosphatidyl-1D-myo-inositol 4-phosphate(3−) Metabolite chebi:58178
Arginine Metabolite chebi:29016
ATP(4−) Metabolite chebi:30616
Dermatan sulfate Metabolite chembl.compound:CHEMBL1909290
Lysine Metabolite chebi:25094
ADP(3−) Metabolite chebi:456216
ATP Metabolite chebi:15422
2-oxoglutaric acid Metabolite chebi:30915
Citrate Metabolite chebi:133748 mitochondrial matrix citrate
L-Glutamic gamma-semialdehyde Metabolite hmdb:HMDB0002104
Proline Metabolite chebi:26271
Ornithine Metabolite chebi:16176
Glutamine Metabolite chebi:28300
Glutamate Metabolite chebi:14321
Riluzole Metabolite chebi:8863
1-pyrroline-5-carboxylate Metabolite chebi:15893
retinal Metabolite chebi:15035
Normetanephrine Metabolite chebi:89951
Homovanillic acid Metabolite chebi:545959
Retinoic acid Metabolite chebi:6067
4-oxo-Retinoic acid Metabolite hmdb:HMDB0006285
Norepinephrine Metabolite chebi:18357
Dopamine Metabolite chebi:18243
DL-Metanephrine Metabolite chebi:89633
Epinephrine Metabolite chebi:33568
Retinoic acid Metabolite chebi:6067
4-hydroxyretinoic acid Metabolite chebi:63795
DOPAC Metabolite chebi:41941
3-Methoxytyramine Metabolite chebi:1582
Citrate Metabolite chebi:133748 Cytplasm citrate
Dopamine Metabolite chebi:18243
Ornithine Metabolite hmdb:HMDB0000214
Arginine Metabolite chebi:29016
Lysine Metabolite chebi:25094
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
ABHD17AP4 GeneProduct ensembl:ENSG00000229107
TP53 GeneProduct ensembl:ENSG00000141510
MAG GeneProduct ensembl:ENSG00000105695 p75
RANGAP1 GeneProduct ensembl:ENSG00000100401
PLK1 GeneProduct ensembl:ENSG00000166851
KRT18P62 GeneProduct ensembl:ENSG00000233471
PRKN GeneProduct ensembl:ENSG00000185345
BCL2 GeneProduct ensembl:ENSG00000171791
LINC01311 GeneProduct ensembl:ENSG00000260924
RBX1 GeneProduct ensembl:ENSG00000100387
XPO1 GeneProduct ensembl:ENSG00000082898
RNY1P9 GeneProduct ensembl:ENSG00000255156
POLR2A GeneProduct ensembl:ENSG00000181222
P2RX6P GeneProduct ensembl:ENSG00000206145
Syntaxin GeneProduct pfam:PF00804
RN7SL168P GeneProduct ensembl:ENSG00000244296
PAK4 GeneProduct ensembl:ENSG00000130669
KRT18P5 GeneProduct ensembl:ENSG00000236670
CLDN1 GeneProduct ensembl:ENSG00000163347
NCOR1 GeneProduct ensembl:ENSG00000141027
RORC GeneProduct ensembl:ENSG00000143365
NPRL3 GeneProduct ensembl:ENSG00000103148
CLDN3 GeneProduct ensembl:ENSG00000165215
CUL3 GeneProduct ensembl:ENSG00000036257
DGCR9 GeneProduct ensembl:ENSG00000273032
RNU6-225P GeneProduct ensembl:ENSG00000207343
RCC1 GeneProduct ensembl:ENSG00000180198
POM121L4P GeneProduct ensembl:ENSG00000217261
LINC01637 GeneProduct ensembl:ENSG00000237476
SMPD4P1 GeneProduct ensembl:ENSG00000223553
SREBF1 GeneProduct ensembl:ENSG00000072310
TNPO1 GeneProduct ensembl:ENSG00000083312
RTN4 GeneProduct ensembl:ENSG00000115310
HDAC3 GeneProduct ensembl:ENSG00000171720
DEPDC5 GeneProduct ensembl:ENSG00000100150
SLC9A3P2 GeneProduct ensembl:ENSG00000238125
ARNTL GeneProduct ensembl:ENSG00000133794
FAM230G GeneProduct ensembl:ENSG00000188280
TUBA3GP GeneProduct ensembl:ENSG00000249680
LINC00895 GeneProduct ensembl:ENSG00000281548
BCRP5 GeneProduct ensembl:ENSG00000235062
RELN GeneProduct ensembl:ENSG00000189056
IGLL4P GeneProduct ensembl:ENSG00000276427
RAN GeneProduct ensembl:ENSG00000132341
SREBF2 GeneProduct ensembl:ENSG00000198911
SNORA77B GeneProduct ensembl:ENSG00000264346
SEPTIN8 GeneProduct ensembl:ENSG00000164402 KIAA0202
TUBA3FP GeneProduct ensembl:ENSG00000161149
HIST1H4A GeneProduct ensembl:ENSG00000278637
RN7SL812P GeneProduct ensembl:ENSG00000242876
MALT1 GeneProduct ensembl:ENSG00000172175
TMEM191A GeneProduct ensembl:ENSG00000226287
C22orf39 GeneProduct ensembl:ENSG00000242259
CCDC74BP1 GeneProduct ensembl:ENSG00000250261
NPRL2 GeneProduct ensembl:ENSG00000114388
CDH15 GeneProduct ensembl:ENSG00000129910
SEPTIN11 GeneProduct ensembl:ENSG00000138758
VWF GeneProduct ensembl:ENSG00000110799
GP1BB GeneProduct ensembl:ENSG00000203618
GP1BA GeneProduct ensembl:ENSG00000185245
DRD2 GeneProduct ensembl:ENSG00000149295
GP5 GeneProduct ensembl:ENSG00000178732
GP9 GeneProduct ensembl:ENSG00000169704
SERPIND1 GeneProduct ensembl:ENSG00000099937
GLUD1 GeneProduct ensembl:ENSG00000148672
CCDC188 GeneProduct ensembl:ENSG00000234409
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
THAP7 GeneProduct ensembl:ENSG00000184436
SLC7A4 GeneProduct ensembl:ENSG00000099960
DGCR6L GeneProduct ensembl:ENSG00000128185
LRRC74B GeneProduct ensembl:ENSG00000187905
OAT GeneProduct ensembl:ENSG00000065154
TSSK2 GeneProduct ensembl:ENSG00000206203
RAF1 GeneProduct ensembl:ENSG00000132155
HIRIP3 GeneProduct ensembl:ENSG00000149929
HAND2 GeneProduct ensembl:ENSG00000164107
SHOC2 GeneProduct ensembl:ENSG00000108061
RTN4R GeneProduct ensembl:ENSG00000040608 also known as Nogo-66 Receptor (NgR) or Nogo receptor 1
CDC45 GeneProduct ensembl:ENSG00000093009
SLC2A4 GeneProduct ensembl:ENSG00000181856
SEPTIN5 GeneProduct ensembl:ENSG00000184702 CDCrel-1
TANGO2 GeneProduct ensembl:ENSG00000183597
DGCR2 GeneProduct ensembl:ENSG00000070413
LINC00896 GeneProduct ensembl:ENSG00000236499
GSC2 GeneProduct ensembl:ENSG00000063515 DNA sequence-specific recognition of sites bound by the Drosophila anterior morphogen, Bicoid
CLDN5 GeneProduct ensembl:ENSG00000184113
GNB1L GeneProduct ensembl:ENSG00000185838
AIFM3 GeneProduct ensembl:ENSG00000183773
TXNRD2 GeneProduct ensembl:ENSG00000184470
RANBP1 GeneProduct ensembl:ENSG00000099901
RTL10 GeneProduct ensembl:ENSG00000215012 BH3-only, Bop
ZNF74 GeneProduct ensembl:ENSG00000185252
PPP1CB GeneProduct ensembl:ENSG00000213639
P2RX6 GeneProduct ensembl:ENSG00000099957
ESS2 GeneProduct ensembl:ENSG00000100056 DGCR14
CBX5 GeneProduct ensembl:ENSG00000094916
TRMT2A GeneProduct ensembl:ENSG00000099899
PI4KA GeneProduct ensembl:ENSG00000241973
ASF1A GeneProduct ensembl:ENSG00000111875
MRPL40 GeneProduct ensembl:ENSG00000185608
USP41 GeneProduct ensembl:ENSG00000161133
CLTCL1 GeneProduct ensembl:ENSG00000070371
HIRA GeneProduct ensembl:ENSG00000100084
PAX3 GeneProduct ensembl:ENSG00000135903
TSKS GeneProduct ensembl:ENSG00000126467
FGF10 GeneProduct ensembl:ENSG00000070193
SLC25A1 GeneProduct ensembl:ENSG00000100075 Altered mitochondrial metabolism
Causative gene for Combined D-2- and L-2-hydroxyglutaric aciduria
CRKL GeneProduct ensembl:ENSG00000099942 In epistasis with TBX1
SCARF2 GeneProduct ensembl:ENSG00000244486
EMC10 GeneProduct ensembl:ENSG00000161671
SRF GeneProduct ensembl:ENSG00000112658
DROSHA GeneProduct ensembl:ENSG00000113360
FOXA2 GeneProduct ensembl:ENSG00000125798
PRODH GeneProduct ensembl:ENSG00000100033
FGF8 GeneProduct ensembl:ENSG00000107831
CYP26B1 GeneProduct ensembl:ENSG00000003137
COMT GeneProduct ensembl:ENSG00000093010
CHRD GeneProduct ensembl:ENSG00000090539
FOXC1 GeneProduct ensembl:ENSG00000054598
CRKL GeneProduct ensembl:ENSG00000099942
SHH GeneProduct ensembl:ENSG00000164690
CYP26A1 GeneProduct ensembl:ENSG00000095596
PITX2 GeneProduct ensembl:ENSG00000164093
ZDHHC8 GeneProduct ensembl:ENSG00000099904
FGF8 GeneProduct ensembl:ENSG00000107831
FGFR2 GeneProduct ensembl:ENSG00000066468
DGCR8 GeneProduct ensembl:ENSG00000128191
TBX1 GeneProduct ensembl:ENSG00000184058
CYP26C1 GeneProduct ensembl:ENSG00000187553
FOXC2 GeneProduct ensembl:ENSG00000176692
FGFR1 GeneProduct ensembl:ENSG00000077782
NKX2-5 GeneProduct ensembl:ENSG00000183072
ALDH1A2 GeneProduct ensembl:ENSG00000128918
SNAP29 GeneProduct ensembl:ENSG00000099940
FGFR2 GeneProduct ensembl:ENSG00000066468
FGFR1 GeneProduct ensembl:ENSG00000077782
CDC42 GeneProduct ensembl:ENSG00000070831 ONLY isoform 2, which is brain-specific; CDC42PALM
DGCR8 GeneProduct ensembl:ENSG00000128191
HES1 GeneProduct ensembl:ENSG00000114315
HES1 GeneProduct ensembl:ENSG00000114315
GBX2 GeneProduct ensembl:ENSG00000168505
GP1BB GeneProduct ensembl:ENSG00000203618 Involved in Macrothrombocytopenia development
Responsible for Bernard-Soulier syndrome
RAF1 GeneProduct ensembl:ENSG00000132155
ACTA2 GeneProduct ensembl:ENSG00000107796
ACTC1 GeneProduct ensembl:ENSG00000159251
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
SEPTIN5 GeneProduct ensembl:ENSG00000184702 CDCrel-1
SEPTIN5 GeneProduct ensembl:ENSG00000184702 CDCrel-1
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
RORC Protein uniprot:P51449
P2RX6 Protein uniprot:O15547


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  33. Expression analysis of the human testis-specific serine/threonine kinase (TSSK) homologues. A TSSK member is present in the equatorial segment of human sperm. Hao Z, Jha KN, Kim YH, Vemuganti S, Westbrook VA, Chertihin O, et al. Mol Hum Reprod. 2004 Jun;10(6):433–44. PubMed Europe PMC Scholia
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  56. Parkin regulates Eg5 expression by Hsp70 ubiquitination-dependent inactivation of c-Jun NH2-terminal kinase. Liu M, Aneja R, Sun X, Xie S, Wang H, Wu X, et al. J Biol Chem. 2008 Dec 19;283(51):35783–8. PubMed Europe PMC Scholia
  57. Supportive evidence for reduced expression of GNB1L in schizophrenia. Ishiguro H, Koga M, Horiuchi Y, Noguchi E, Morikawa M, Suzuki Y, et al. Schizophr Bull. 2010 Jul;36(4):756–65. PubMed Europe PMC Scholia
  58. Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. Choi M, Klingensmith J. PLoS Genet. 2009 Feb;5(2):e1000395. PubMed Europe PMC Scholia
  59. A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolism. Vassilopoulos S, Esk C, Hoshino S, Funke BH, Chen CY, Plocik AM, et al. Science. 2009 May 29;324(5931):1192–6. PubMed Europe PMC Scholia
  60. Tbx1 regulates proliferation and differentiation of multipotent heart progenitors. Chen L, Fulcoli FG, Tang S, Baldini A. Circ Res. 2009 Oct 23;105(9):842–51. PubMed Europe PMC Scholia
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