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

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2211111731114, 20, 386a-tubulinchr2: 96,742,409unknown function22Exact function unknownExact function unknownTUBA8Metal transporterTUBA4ACOX5BDynactinTUBA1ATUBA1BTUBB2BTUBA3CTUBB6TUBB4ATUBB2ATUBB8TUBA3Emyogenic differentiationTUBB3C2orf92Electron transport chain: OXPHOS system in mitochondriaTUBA3DTUBB1ACTR1BTUBB4BTUBBTUBA1CRHOAMIR3127p38 MAPK signaling pathwayCOX11ANKRD36BANKRD39SEMA4CFAHD2BPLXNB2CNNM3Exact function unknownExact function unknownExact function unknownERBB2ANKRD23ERBB2FAM178BANKRD36CNNM4chr2: 97,677,51622LegendMIM-cleavage of protein by enzymeGene 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 enzymePathwayMIM-transcription-translation of a geneData node for a metaboliteData node for a gene or its productMIM-conversion of a compound to anotherMIM-binding of a compound to anotherData node for a pseudo genePseudogeneb-tubulin


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
ACTR1BGeneProductENSG00000115073 (Ensembl)
ANKRD23GeneProductENSG00000163126 (Ensembl)
ANKRD36BGeneProductENSG00000196912 (Ensembl)
ANKRD36GeneProductENSG00000135976 (Ensembl)
ANKRD39GeneProductENSG00000213337 (Ensembl)
C2orf92GeneProductENSG00000228486 (Ensembl)
CNNM3GeneProductENSG00000168763 (Ensembl)
CNNM4GeneProductENSG00000158158 (Ensembl)
COX11ProteinENSG00000166260 (Ensembl)
COX5BGeneProductENSG00000135940 (Ensembl)
DynactinComplex
ERBB2ProteinENSG00000141736 (Ensembl)
Electron transport chain: OXPHOS system in mitochondriaPathwayWP111 (WikiPathways)
FAHD2BGeneProductENSG00000144199 (Ensembl)
FAM178BGeneProductENSG00000168754 (Ensembl)
MIR3127GeneProductENSG00000264157 (Ensembl)
Metal transporter
PLXNB2ProteinENSG00000196576 (Ensembl)
RHOAProteinENSG00000067560 (Ensembl)
SEMA4CGeneProductENSG00000168758 (Ensembl)
TUBA1AGeneProductENSG00000167552 (Ensembl)
TUBA1BGeneProductENSG00000123416 (Ensembl)
TUBA1CGeneProductENSG00000167553 (Ensembl)
TUBA3CGeneProductENSG00000198033 (Ensembl)
TUBA3DGeneProductENSG00000075886 (Ensembl)
TUBA3EGeneProductENSG00000152086 (Ensembl)
TUBA4AGeneProductENSG00000127824 (Ensembl)
TUBA8GeneProductENSG00000183785 (Ensembl)
TUBB1GeneProductENSG00000101162 (Ensembl)
TUBB2AGeneProductENSG00000137267 (Ensembl)
TUBB2BGeneProductENSG00000137285 (Ensembl)
TUBB3GeneProductENSG00000258947 (Ensembl)
TUBB4AGeneProductENSG00000104833 (Ensembl)
TUBB4BGeneProductENSG00000188229 (Ensembl) TUBB2C
TUBB6GeneProductENSG00000176014 (Ensembl)
TUBB8GeneProductENSG00000261456 (Ensembl)
TUBBGeneProductENSG00000196230 (Ensembl)
myogenic differentiation
p38 MAPK signaling pathwayPathwayWP400 (WikiPathways)

Annotated Interactions

No annotated interactions

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