2q21.1 Copy Number Variation - CNVPathwayAtlas

2q21.1 Copy Number Variation

Description

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 (Almuzzaini et al., 2020; Gimelli et al., 2014). The clinical picture was explained by alterations in five genes important for neurological development, namely GPR148, FAM123C, ARHGEF4, FAM168B and PLEKHB2 (Gimelli et al., 2014; Dharmadhikari et al., 2012). Analogically, changes in tubulin genes in 2q21.1 were linked to Motor Timing in ADHD (Rommelse et al., 2008). For this rare disorder, two different genomic locations are known according to Kirov et al. 2014, and Gimelli et al. 2014 with a larger deletion.

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

This CNV is not yet linked to an OrphaCode.

Molecular pathway

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Gene Information

HGNC Gene Name NCBI Ensembl UniProt
GPR148 G protein-coupled receptor 148 344561 ENSG00000173302 Q8TDV2
AMER3 APC membrane recruitment protein 3 205147 ENSG00000178171 Q8N944
ARHGEF4 Rho guanine nucleotide exchange factor 4 50649 ENSG00000136002 Q9NR80
FAM168B family with sequence similarity 168 member B 130074 ENSG00000152102 A1KXE4
PLEKHB2 pleckstrin homology domain containing B2 55041 ENSG00000115762 Q96CS7

Evidence