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

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24, 36, 37, 49, 53711, 14, 3928221, 3, 6, 17, 20...50199444242222, 23, 33, 5236441929927, 38313016, 418402545445, 13, 473215, 26, 35ERAcetylationof histone H4chr2:96,742,4097AT-rich stretches DNAExact function unknownRegulatesgene expressisonMetal transporterchromosomecondensationCIA ComplexE3 ubiquitin-protein ligasemyogenic differentiationPolyspermyfertilizationGlycerophospholipid biosynthesisIncorporation ofiron-sulfur cluster in proteinsmTOR signalingIL6RHOANEURL3STARD7-AS1MIR3127SNRNP200COL2A1Condensin I complexp38 MAPK signaling pathwayCOX11ASTLADRA2BCIAO2AglycoproteinsZP2phosphatidylcholinesSTARD7TMEM127ANKRD39DUSP2PARLLMAN2LSEMA4CMAPK3PLXNB2Acetylationof histone H3CNNM3Exact function unknownchondrocyte differentiationExact function unknownNCAPHmyoblast fusionMAPK1ARID5ANSL complexMAPK3MAPK1U4/U6.U5 snRNP complexCOL2A1CIAO2BSTAT3CIAO145MMS19ERBB2glycoproteinsANKRD23CIAO1Pre-mRNAFER1L5ERBB2G alpha (z) signaling eventsFAM178BITPRIPL1KANSL3CNNM4chr2:97,677,5167LegendTranslocationStimulation of enzyme or gene leading to its activation or expressionMicroRNA or other RNA genePathwayInhibition of function or processCatalysis of compound by enzymeTranscription-translation of geneMetaboliteUnclear interaction mechanism orunclear intermediatesGene or gene productConversionBindingPseudogene


Description

The 2q11.2 copy number variation syndrome can result in the loss of up to 27 protein-coding genes. Patients with 2q11.2 deletions were reported to have developmental delay, speech delay and ADHD, while subjects with 2q11.2 duplications apart from developmental delay had gastroesophageal reflux and short stature (DOI: 10.1002/ajmg.a.37269).

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History

View all...
CompareRevisionActionTimeUserComment
134556view22:04, 22 July 2024EweitzOntology Term : 'attention deficit hyperactivity disorder' added !
134555view22:01, 22 July 2024EweitzOntology Term : 'chromosomal duplication syndrome' added !
134554view22:01, 22 July 2024EweitzOntology Term : 'chromosomal deletion syndrome' added !
134553view22:00, 22 July 2024EweitzAdd missing database names
134552view21:59, 22 July 2024EweitzRefine legend
127056view14:44, 26 July 2023FehrhartUpdate to GRCh37 numbers
127055view14:38, 26 July 2023FehrhartReverted to version '12:56, 7 May 2022' by Fehrhart
127054view11:00, 26 July 2023Fehrhartcorrection of chr numbers
127053view10:48, 26 July 2023Fehrhartupdate to GRCh37
122738view12:56, 7 May 2022Shad4Added references for neuropathologies
122736view12:44, 7 May 2022Shad4Added Neuropathologies
122631view10:55, 22 April 2022FehrhartOntology Term : 'disease pathway' added !
122624view09:38, 22 April 2022Shad4Modified description
122600view18:14, 20 April 2022Shad4Labels converted into precesses without id and database
122597view12:29, 20 April 2022Shad4Converted to graphical lines
122544view21:32, 14 April 2022Shad4New pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ADRA2BGeneProductENSG00000274286 (Ensembl)
ANKRD23GeneProductENSG00000163126 (Ensembl)
ANKRD39GeneProductENSG00000213337 (Ensembl)
ARID5AGeneProductENSG00000196843 (Ensembl)
ASTLGeneProductENSG00000188886 (Ensembl)
CIA ComplexComplex
CIAO1GeneProductENSG00000144021 (Ensembl)
CIAO2AProteinENSG00000166797 (Ensembl)
CIAO2BProteinENSG00000166595 (Ensembl)
CNNM3GeneProductENSG00000168763 (Ensembl)
CNNM4GeneProductENSG00000158158 (Ensembl)
COL2A1ProteinENSG00000139219 (Ensembl)
COX11ProteinENSG00000166260 (Ensembl)
Condensin I complexComplexCPX-979 (Complex Portal)
DUSP2GeneProductENSG00000158050 (Ensembl)
E3 ubiquitin-protein ligase
ERBB2ProteinENSG00000141736 (Ensembl)
FAM178BGeneProductENSG00000168754 (Ensembl)
FER1L5GeneProductENSG00000249715 (Ensembl)
G alpha (z) signaling eventsPathwayWP4422 (WikiPathways)
Glycerophospholipid biosynthesisPathwayWP2740 (WikiPathways)
IL6RnaENSG00000136244 (Ensembl)
ITPRIPL1GeneProductENSG00000198885 (Ensembl)
Incorporation of iron-sulfur cluster in proteins
KANSL3GeneProductENSG00000114982 (Ensembl)
LMAN2LGeneProductENSG00000114988 (Ensembl)
MAPK1ProteinENSG00000100030 (Ensembl)
MAPK3ProteinENSG00000102882 (Ensembl)
MIR3127GeneProductENSG00000264157 (Ensembl)
MMS19ProteinENSG00000155229 (Ensembl)
Metal transporter
NCAPHGeneProductENSG00000121152 (Ensembl)
NEURL3GeneProductENSG00000163121 (Ensembl)
NSL complexComplexCPX-809 (Complex Portal)
PARLProteinENSG00000175193 (Ensembl)
PLXNB2ProteinENSG00000196576 (Ensembl)
PolyspermyQ1759519 (Wikidata)
Pre-mRNAMetaboliteCHEBI:139356 (ChEBI)
RHOAProteinENSG00000067560 (Ensembl)
SEMA4CGeneProductENSG00000168758 (Ensembl)
SNRNP200GeneProductENSG00000144028 (Ensembl)
STARD7-AS1GeneProductENSG00000204685 (Ensembl)
STARD7GeneProductENSG00000084090 (Ensembl)
STAT3RnaENSG00000168610 (Ensembl)
TMEM127GeneProductENSG00000135956 (Ensembl)
U4/U6.U5 snRNP complexComplexCPX-2391 (Complex Portal)
ZP2ProteinENSG00000103310 (Ensembl)
chondrocyte differentiationQ14877672 (Wikidata)
chromosome condensationQ15311670 (Wikidata)
fertilizationQ14890574 (Wikidata)
glycoproteinsMetaboliteCHEBI:17089 (ChEBI)
mTOR signalingPathwayWP1471 (WikiPathways)
myoblast fusionPathwayQ14762265 (Wikidata)
myogenic differentiation
p38 MAPK signaling pathwayPathwayWP400 (WikiPathways)
phosphatidylcholinesMetaboliteCHEBI:49183 (ChEBI)

Annotated Interactions

No annotated interactions

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