2q11.2 copy number variation syndrome (WP5221)

Homo sapiens

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).


Daria Shumkova , Friederike Ehrhart , and Eric Weitz


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Homo sapiens


Rare Diseases


Disease Ontology

chromosomal deletion syndrome attention deficit hyperactivity disorder chromosomal duplication syndrome

Pathway Ontology

disease pathway


Label Type Compact URI Comment
glycoproteins Metabolite chebi:17089
phosphatidylcholines Metabolite chebi:49183
Pre-mRNA Metabolite chebi:139356
NEURL3 GeneProduct ensembl:ENSG00000163121
STARD7-AS1 GeneProduct ensembl:ENSG00000204685
MIR3127 GeneProduct ensembl:ENSG00000264157
SNRNP200 GeneProduct ensembl:ENSG00000144028
COL2A1 GeneProduct ensembl:ENSG00000139219
ASTL GeneProduct ensembl:ENSG00000188886
ADRA2B GeneProduct ensembl:ENSG00000274286
STARD7 GeneProduct ensembl:ENSG00000084090
TMEM127 GeneProduct ensembl:ENSG00000135956
ANKRD39 GeneProduct ensembl:ENSG00000213337
DUSP2 GeneProduct ensembl:ENSG00000158050
LMAN2L GeneProduct ensembl:ENSG00000114988
SEMA4C GeneProduct ensembl:ENSG00000168758
CNNM3 GeneProduct ensembl:ENSG00000168763
NCAPH GeneProduct ensembl:ENSG00000121152
ARID5A GeneProduct ensembl:ENSG00000196843
ANKRD23 GeneProduct ensembl:ENSG00000163126
CIAO1 GeneProduct ensembl:ENSG00000144021
FER1L5 GeneProduct ensembl:ENSG00000249715
FAM178B GeneProduct ensembl:ENSG00000168754
ITPRIPL1 GeneProduct ensembl:ENSG00000198885
KANSL3 GeneProduct ensembl:ENSG00000114982
CNNM4 GeneProduct ensembl:ENSG00000158158
RHOA Protein ensembl:ENSG00000067560
COX11 Protein ensembl:ENSG00000166260
CIAO2A Protein ensembl:ENSG00000166797
ZP2 Protein ensembl:ENSG00000103310
PARL Protein ensembl:ENSG00000175193
MAPK3 Protein ensembl:ENSG00000102882
PLXNB2 Protein ensembl:ENSG00000196576
MAPK1 Protein ensembl:ENSG00000100030
CIAO2B Protein ensembl:ENSG00000166595
COL2A1 Protein ensembl:ENSG00000139219
CIAO1 Protein ensembl:ENSG00000144021
MMS19 Protein ensembl:ENSG00000155229
ERBB2 Protein ensembl:ENSG00000141736


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