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

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14, 28, 35, 44, 5058, 34, 433392, 40, 4115, 17, 25, 29, 31...364810122626237, 9, 13, 3050124811104, 46224218, 212739203121, 37, 45166, 19, 24ERAcetylationof histone H4chr2:96,097,3835AT-rich stretches DNAExact function unknownExact function unknownRegulatesgene expressisonExact function unknownExact function unknownE3 ubiquitin-protein ligasechromosomecondensationEPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2Metal transporterGlycerophospholipid biosynthesisPolyspermyfertilizationCIA ComplexIncorporation ofiron-sulfur cluster in proteinsmyogenic differentiationmTOR signalingTRIM43BIL6RHOANEURL3IGKV1OR2-11G3PANKRD36CSTARD7-AS1MIR31271-acyl LPAIGKV2OR2-7DSNRNP200COL2A1FAHD2CPCondensin I complexIGKV2OR2-2p38 MAPK signaling pathwayIGKV2OR2-10COX11ASTLADRA2BCIAO2AIGKV2OR2-8RN7SL313PglycoproteinsIGKV3OR2-5ZP2IGKV2OR2-1phosphatidylcholinesSTARD7ANKRD36BRN7SL210PTRIM43CPTMEM127GPAT2IGKV1OR2-9UBTFL3ANKRD39DUSP2PARLLMAN2LIGKV2OR2-7OR7E102PSEMA4CTRIM64FPFAHD2BMAPK3PLXNB2Acetylationof histone H3CNNM3Exact function unknownchondrocyte differentiationExact function unknownIGKV1OR2-6Exact function unknownNCAPHExact function unknownmyoblast fusionLINC00342MAPK1ARID5AMAPK3NSL complexMAPK1RNA5SP101U4/U6.U5 snRNP complexUBTFL5CIAO2BCOL2A1STAT3CIAO1Triglyceride metabolism3MMS19ERBB2glycoproteinsANKRD23CIAO1TRIM43TRIM51JPIGKV1OR2-3Pre-mRNAFER1L5ERBB2G alpha (z) signaling eventsFAM178BITPRIPL1ANKRD36KANSL3CNNM4chr2:98,225,5525LegendMIM-cleavage of protein by enzymeTranslocationGene ProductMetaboliteRNA geneMIM-stimulation of an enzyme or a gene leading to its activation or expressionData node for a micro RNA or another RNA geneData node for a pathwayMIM-inhibition of a compound's function or a processMIM-catalysis of a compound by an enzymePathwayComplexMIM-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 anotherData node for a pseudo geneproteinsPhosphorylated proteinPseudogeneNEUROPATHOLOGYData node for associated neuropathologyMICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE; MCPH23INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 52; MRT52


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
1-acyl LPAMetaboliteCHEBI:57970 (ChEBI)
ADRA2BGeneProductENSG00000274286 (Ensembl)
ANKRD23GeneProductENSG00000163126 (Ensembl)
ANKRD36BGeneProductENSG00000196912 (Ensembl)
ANKRD36CGeneProductENSG00000174501 (Ensembl)
ANKRD36GeneProductENSG00000135976 (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
DUSP2GeneProductENSG00000158050 (Ensembl)
E3 ubiquitin-protein ligase
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2607876
ERBB2ProteinENSG00000141736 (Ensembl)
FAHD2BGeneProductENSG00000144199 (Ensembl)
FAHD2CPGeneProductENSG00000231584 (Ensembl)
FAM178BGeneProductENSG00000168754 (Ensembl)
FER1L5GeneProductENSG00000249715 (Ensembl)
G alpha (z) signaling eventsPathwayWP4422 (WikiPathways)
G3PMetaboliteCHEBI:57597 (ChEBI)
GPAT2GeneProductENSG00000186281 (Ensembl)
Glycerophospholipid biosynthesisPathwayWP2740 (WikiPathways)
IGKV1OR2-11GeneProductENSG00000270187 (Ensembl)
IGKV1OR2-3GeneProductENSG00000204670 (Ensembl)
IGKV1OR2-6GeneProductENSG00000271569 (Ensembl)
IGKV1OR2-9GeneProductENSG00000271351 (Ensembl)
IGKV2OR2-10GeneProductENSG00000276050 (Ensembl)
IGKV2OR2-1GeneProductENSG00000270748 (Ensembl)
IGKV2OR2-2GeneProductENSG00000271402 (Ensembl)
IGKV2OR2-7DGeneProductENSG00000270450 (Ensembl)
IGKV2OR2-7GeneProductENSG00000271015 (Ensembl)
IGKV2OR2-8GeneProductENSG00000278537 (Ensembl)
IGKV3OR2-5GeneProductENSG00000270252 (Ensembl)
IL6RnaENSG00000136244 (Ensembl)
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 52; MRT52616887
ITPRIPL1GeneProductENSG00000198885 (Ensembl)
Incorporation of iron-sulfur cluster in proteins
KANSL3GeneProductENSG00000114982 (Ensembl)
LINC00342GeneProductENSG00000232931 (Ensembl)
LMAN2LGeneProductENSG00000114988 (Ensembl)
MAPK1ProteinENSG00000100030 (Ensembl)
MAPK3ProteinENSG00000102882 (Ensembl)
MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE; MCPH23617985
MIR3127GeneProductENSG00000264157 (Ensembl)
MMS19ProteinENSG00000155229 (Ensembl)
Metal transporter
NCAPHGeneProductENSG00000121152 (Ensembl)
NEURL3GeneProductENSG00000163121 (Ensembl)
NEUROPATHOLOGY
NSL complexComplexCPX-809
OR7E102PGeneProductENSG00000168992 (Ensembl)
PARLProteinENSG00000175193 (Ensembl)
PLXNB2ProteinENSG00000196576 (Ensembl)
PolyspermyQ1759519 (Wikidata)
Pre-mRNAMetaboliteCHEBI:139356 (ChEBI)
RHOAProteinENSG00000067560 (Ensembl)
RN7SL210PGeneProductENSG00000275961 (Ensembl)
RN7SL313PGeneProductENSG00000275655 (Ensembl)
RNA5SP101GeneProductENSG00000252845 (Ensembl)
SEMA4CGeneProductENSG00000168758 (Ensembl)
SNRNP200GeneProductENSG00000144028 (Ensembl)
STARD7-AS1GeneProductENSG00000204685 (Ensembl)
STARD7GeneProductENSG00000084090 (Ensembl)
STAT3RnaENSG00000168610 (Ensembl)
TMEM127GeneProductENSG00000135956 (Ensembl)
TRIM43BGeneProductENSG00000144010 (Ensembl)
TRIM43CPGeneProductENSG00000144188 (Ensembl)
TRIM43GeneProductENSG00000144015 (Ensembl)
TRIM51JPGeneProductENSG00000232717 (Ensembl)
TRIM64FPGeneProductENSG00000226185 (Ensembl)
Triglyceride metabolismPathwayWP4131 (WikiPathways)
U4/U6.U5 snRNP complexComplexCPX-2391
UBTFL3GeneProductENSG00000204699 (Ensembl)
UBTFL5GeneProductENSG00000204705 (Ensembl)
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)
proteinsMetaboliteCHEBI:36080 (ChEBI)

Annotated Interactions

No annotated interactions

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