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

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chr22:21455556GGT3PTSSK1AKRT18P62CA15P1FAM230EFAM230FDGCR9PPP1R26P4E2F6P1BCRP7RN7SL168PDGCR11LINC00895C22orf39DGCR10LINC013115353214253428Gene 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 3616392022162027301017293631233833267132311712, 4118, 419, 11, 1938383826PPLCR22BLCR22CCentromeredegradation 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 cycleGSC22CLDN5GNB1LOrnithineAIFM3TXNRD2RANBP1glutamineRTL10ZNF74LOC101927859PPP1CBP2RX6ESS2glutamateCBX5TCA cycleTRMT2API4KAASF1AMRPL40hsa-mir-681637USP41riluzoleCLTCL1HIRAhsa-mir-1306PAX3TSKShsa-mir-649FGF10SLC25A18CRKL1-pyrroline-5-carboxylateSCARF2retinalEMC10NormetanephrineHomovanillic acidRetinoic acidSRFDROSHAFOXA2hsa-miR-194-1PRODHFGF8CYP26B14-oxo-Retinoic acidCOMTCHRDFOXC1CRKLSHHNorepinephrineCYP26A1DopaminePITX2ZDHHC8FGF8FGFR2DGCR8DL-MetanephrineEpinephrineTBX1hsa-miR-185CYP26C1FOXC2Retinoic acidFGFR14-hydroxyretinoic acidhsa-miR-363NKX2-5hsa-miR-150ALDH1A2DOPAC3-MethoxytyramineSNAP29FGFR2FGFR1CDC42431DGCR8hsa-miR-18521EctodermcNCC patterningNeurogenesis and neural differentiationHES1HES1GBX2Notch signalling(Premature) muscular differentiation GP1BB401521LCR22DPRAF1PcitrateTCA cycleGP1b-IX-V activation signalling1414ACTA2ACTC1DopamineFOXA2FOXC1FOXC2TBX138DGCR5EGFRchr22:18660553TSKS


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.

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History

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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)
ACTA2GeneProductENSG00000107796 (Ensembl)
ACTC1GeneProductENSG00000159251 (Ensembl)
AIFM3GeneProductENSG00000183773 (Ensembl)
ALDH1A2GeneProductENSG00000128918 (Ensembl)
ALDH4A1GeneProductENSG00000159423 (Ensembl)
ARVCFGeneProductENSG00000099889 (Ensembl)
ASF1AGeneProductENSG00000111875 (Ensembl)
BCRP7GeneProductENSG00000215544 (Ensembl)
Blood Clotting CascadePathwayWP272 (WikiPathways)
C22orf39 GeneProductENSG00000242259 (Ensembl)
CA15P1GeneProductENSG00000241527 (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)
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)
EGFRGeneProductENSG00000146648 (Ensembl)
EMC10GeneProductENSG00000161671 (Ensembl)
ESS2GeneProductENSG00000100056 (Ensembl)
EpinephrineMetaboliteCHEBI:33568 (ChEBI)
FAM230EGeneProductENSG00000182824 (Ensembl)
FAM230FGeneProductENSG00000276095 (Ensembl)
FGF10GeneProductENSG00000070193 (Ensembl)
FGF8GeneProductENSG00000107831 (Ensembl)
FGFR1GeneProductENSG00000077782 (Ensembl)
FGFR2GeneProductENSG00000066468 (Ensembl)
FOXA2GeneProductENSG00000125798 (Ensembl)
FOXC1GeneProductENSG00000054598 (Ensembl)
FOXC2GeneProductENSG00000176692 (Ensembl)
GBX2GeneProductENSG00000168505 (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)
Insulin SignallingPathwayWP481 (WikiPathways)
KLHL22GeneProductENSG00000099910 (Ensembl)
KRT18P62 GeneProductENSG00000233471 (Ensembl)
L-Glutamic gamma-semialdehydeMetaboliteHMDB0002104 (HMDB)
LINC00037RnaENSG00000237517 (Ensembl)
LINC00895 GeneProductENSG00000281548 (Ensembl)
LINC00896GeneProductENSG00000236499 (Ensembl)
LINC01311GeneProductENSG00000260924 (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)
PPP1R26P4GeneProductENSG00000278008 (Ensembl)
PRODHGeneProductENSG00000100033 (Ensembl)
RAF1GeneProductENSG00000132155 (Ensembl)
RANBP1GeneProductENSG00000099901 (Ensembl)
RAS/MAPK signal transductionPathwayWP2735 (WikiPathways)
RN7SL168P GeneProductENSG00000244296 (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)
SNAP29GeneProductENSG00000099940 (Ensembl)
SRFGeneProductENSG00000112658 (Ensembl)
TANGO2GeneProductENSG00000183597 (Ensembl)
TBX1GeneProductENSG00000184058 (Ensembl)
TCA cyclePathwayWP78 (WikiPathways)
THAP7GeneProductENSG00000184436 (Ensembl)
TRMT2AGeneProductENSG00000099899 (Ensembl)
TSKSGeneProductENSG00000126467 (Ensembl)
TSSK1AGeneProductENSG00000231086 (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://classic.wikipathways.org/index.php/Pathway:WP4657"
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