22q11.2 Deletion Syndrome (Homo sapiens)

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17335289531Gene ProductMetaboliteDNAmiRnareward-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 enzymePathwayCompoundMIM-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 8221912382519386723213108163739142032263711324, 3327, 3311, 29, 3639393920PPLCR22BLCR22ALCR22CCentromeredegradation 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-1286HIRIP3prolineHAND2SHOC2RTN4RCDC45SLC2A4SEPT5RAS/MAPK signal transductionTANGO2DGCR2DGCR6hsa-miR-3618LINC00896Urea cycleGSC2C22orf3930CLDN5GNB1LOrnithineAIFM3TXNRD2RANBP1glutamineRTL10ZNF74LOC101927859PPP1CBP2RX6ESS2glutamateCBX5TCA cycleTRMT2API4KAASF1AMRPL4040hsa-mir-6816USP41riluzoleCLTCL1HIRAhsa-mir-1306PAX3TSKShsa-mir-649FGF10SLC25A1CRKL241-pyrroline-5-carboxylateSCARF2retinalEMC10NormetanephrineHomovanillic acidRetinoic acidSRFDROSHAFOXA2hsa-miR-194-1PRODHFGF8CYP26B14-oxo-Retinoic acidCOMTCHRDFOXC1CRKLSHHNorepinephrineCYP26A1DopaminePITX2ZDHHC8FGF8FGFR2DGCR8DL-MetanephrineEpinephrineTBX1hsa-miR-185CYP26C1FOXC2Retinoic acidFGFR14-hydroxyretinoic acidhsa-miR-363NKX2-5hsa-miR-150ALDH1A2DOPAC3-MethoxytyramineSNAP29FGFR2FGFR1PCDC4221DGCR815hsa-miR-18541EctodermcNCC patterningNeurogenesis and neural differentiationHES1HES1GBX2Notch signalling(Premature) muscular differentiation GP1BB1834LCR22D41PRAF1PcitrateTCA cycleGP1b-IX-V activation signalling2828ACTA2ACTC1DopamineFOXA2FOXC1FOXC2TBX1DGCR539EGFR


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.

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Ontology Terms

 

Bibliography

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  16. 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
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  19. 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
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  22. 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
  23. 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
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  25. Chen L, Fulcoli FG, Tang S, Baldini A; ''Tbx1 regulates proliferation and differentiation of multipotent heart progenitors.''; Circ Res, 2009 PubMed Europe PMC
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  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
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  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  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 PubMed Europe PMC

History

View all...
CompareRevisionActionTimeUserComment
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 !
104939view11:50, 26 June 2019VictoravrOntology Term : 'velocardiofacial syndrome' added !
104938view11:35, 26 June 2019FehrhartNew pathway

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)
ACTA2GeneProductENSG00000107796 (Ensembl)
ACTC1GeneProductENSG00000159251 (Ensembl)
AIFM3GeneProductENSG00000183773 (Ensembl)
ALDH1A2GeneProductENSG00000128918 (Ensembl)
ALDH4A1GeneProductENSG00000159423 (Ensembl)
ARVCFGeneProductENSG00000099889 (Ensembl)
ASF1AGeneProductENSG00000111875 (Ensembl)
Blood Clotting CascadePathwayWP272 (WikiPathways)
C22orf39GeneProductENSG00000242259 (Ensembl)
CBX5GeneProductENSG00000094916 (Ensembl)
CCDC188GeneProductENSG00000234409 (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)
DGCR2GeneProductENSG00000070413 (Ensembl)
DGCR5GeneProductENSG00000237517 (Ensembl)
DGCR6GeneProductENSG00000183628 (Ensembl)
DGCR6LGeneProductENSG00000128185 (Ensembl)
DGCR8GeneProductENSG00000128191 (Ensembl)
DL-MetanephrineMetaboliteCHEBI:89633 (ChEBI)
DOPACMetaboliteCHEBI:41941 (ChEBI)
DRD2GeneProductENSG00000149295 (Ensembl)
DROSHAGeneProductENSG00000113360 (Ensembl)
Dopamine metabolismPathwayWP2436 (WikiPathways)
DopamineMetaboliteCHEBI:18243 (ChEBI)
EGFRGeneProductENSG00000146648 (Ensembl)
EMC10GeneProductENSG00000161671 (Ensembl)
ESS2GeneProductENSG00000100056 (Ensembl)
EpinephrineMetaboliteCHEBI:33568 (ChEBI)
FGF10GeneProductENSG00000070193 (Ensembl)
FGF8GeneProductENSG00000107831 (Ensembl)
FGFR1GeneProductENSG00000077782 (Ensembl)
FGFR2GeneProductENSG00000066468 (Ensembl)
FOXA2GeneProductENSG00000125798 (Ensembl)
FOXC1GeneProductENSG00000054598 (Ensembl)
FOXC2GeneProductENSG00000176692 (Ensembl)
GBX2GeneProductENSG00000168505 (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)
Insulin SignallingPathwayWP481 (WikiPathways)
KLHL22GeneProductENSG00000099910 (Ensembl)
L-Glutamic gamma-semialdehydeMetaboliteHMDB0002104 (HMDB)
LINC00037RnaENSG00000237517 (Ensembl)
LINC00896GeneProductENSG00000236499 (Ensembl)
LOC101927859GeneProduct
  • serine/arginine repetitive matrix protein 2-like
  • No annotation
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)
PAX3GeneProductENSG00000135903 (Ensembl)
PI4KAGeneProductENSG00000241973 (Ensembl)
PITX2GeneProductENSG00000164093 (Ensembl)
PPP1CBGeneProductENSG00000213639 (Ensembl)
PRODHGeneProductENSG00000100033 (Ensembl)
RAF1GeneProductENSG00000132155 (Ensembl)
RANBP1GeneProductENSG00000099901 (Ensembl)
RAS/MAPK signal transductionPathwayWP2735 (WikiPathways)
RTL10GeneProductENSG00000215012 (Ensembl)
RTN4RGeneProductENSG00000040608 (Ensembl)
Retinoic acidMetaboliteCHEBI:6067 (ChEBI)
SCARF2GeneProductENSG00000244486 (Ensembl)
SEPT5GeneProductENSG00000184702 (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)
SNAP29GeneProductENSG00000099940 (Ensembl)
SRFGeneProductENSG00000112658 (Ensembl)
TANGO2GeneProductENSG00000183597 (Ensembl)
TBX1GeneProductENSG00000184058 (Ensembl)
TCA cyclePathwayWP78 (WikiPathways)
THAP7GeneProductENSG00000184436 (Ensembl)
TRMT2AGeneProductENSG00000099899 (Ensembl)
TSKSGeneProductENSG00000126467 (Ensembl)
TSSK2GeneProductENSG00000206203 (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

Retrieved from "https://www.wikipathways.org/index.php/Pathway:WP4657"
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