2q21.1 copy number variation syndrome (WP5223)

Homo sapiens

The 2q21.1 copy number variation syndrome can result in the loss of up to 9 protein-coding genes. Deletions and duplications in 2q21.1 were reported to be connected to intellectual disability, hyperactivity, and aggressive behavior (DOI: 10.1002/mgg3.1135,DOI: 10.1002/ajmg.a.36357). The clinical picture was explained by alterations in five genes important for neurological development, namely GPR148, FAM123C, ARHGEF4, FAM168B and PLEKHB2 (DOI: 10.1002/ajmg.a.36357,DOI: 10.1093/hmg/dds166). Analogically, changes in tubulin genes in 2q21.1 were linked to Motor Timing in ADHD (DOI: 10.1016/j.ajhg.2008.06.006). For this rare disorder, two different genomic locations are known according to Kirov et al. 2014 and literature cited there and Gimelli et al. 2014 with a larger deletion.


Daria Shumkova and Friederike Ehrhart


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Homo sapiens


Rare Diseases


Pathway Ontology

disease pathway


Label Type Compact URI Comment
GDP Metabolite chebi:17552
PtdIns(4,5)P2 Metabolite chebi:18348
GDP Metabolite chebi:17552
GDP Metabolite chebi:17552
GTP Metabolite chebi:37565
GTP Metabolite chebi:37565
GTP Metabolite chebi:37565
LINC01120 GeneProduct ensembl:ENSG00000223631
MIR4784 GeneProduct ensembl:ENSG00000284149
LINC01087 GeneProduct ensembl:ENSG00000224559
POTEE GeneProduct ensembl:ENSG00000188219
ARHGEF4 GeneProduct ensembl:ENSG00000136002
GPR148 GeneProduct ensembl:ENSG00000173302
CCDC74A GeneProduct ensembl:ENSG00000163040
PLEKHB2 GeneProduct ensembl:ENSG00000115762
MZT2A GeneProduct ensembl:ENSG00000173272
FAM168B GeneProduct ensembl:ENSG00000152102
AMER3 GeneProduct ensembl:ENSG00000178171
TUBA3D GeneProduct ensembl:ENSG00000075886
RAC1 Protein ensembl:ENSG00000136238
CDC27 Protein ensembl:ENSG00000004897
CCDC42 Protein ensembl:ENSG00000161973
STAT3 Protein ensembl:ENSG00000168610
STMN2 Protein ensembl:ENSG00000104435
APC Protein ensembl:ENSG00000134982
AMER3 Protein ensembl:ENSG00000178171
RHOA Protein ensembl:ENSG00000067560
RHOA Protein ensembl:ENSG00000067560
RAC1 Protein ensembl:ENSG00000136238
CCDC42 Protein ensembl:ENSG00000161973


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