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Table 4 Short overview of SRGAP2 paralogs

From: Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex

Gene Estimated time of duplication Structure Mapping GRCh38/hg38 Strand Expression in human braina Copy number Function
SRGAP2A protein sequence is highly constrained (no changes among non-human primates, and only a single amino-acid change between human and mouse orthologs) 22 exons;
N-terminal F-BAR domain – involved in membrane deformation;
central Rho-GAP domain – specifically stimulates GTPase activity of Rac1;
C-terminal tail with SH3 domain – interacts with
F-BAR domain = autoinhibition?
1q32.1 + ↑in the germinal layers and cortical plate 2 controls cortical neural migration
SRGPA2B ~3.4 million years promoter and 1–9 exons of ancestral SRGAP2
3'-breakpoint located in intron 9 → truncated
F-BAR domainb
1q21.1 - 0-4 interacts with SRGAP2A
SRGAP2C ~2.4 million years duplication of SRGAP2B to 1p11.2
3'-breakpoint located in intron 9 → truncated F-BAR domainb
1p11.2 + ↑in the germinal layers (in culture longer maintains a high level of expression than SRGAP2A) 2 inhibits SRGAP2A - SRGAP2 knockdown
SRGAP2D ~1 million years duplication of SRGAP2B and additional deletion of exons 2 and 3 → premature termination codonb 1p21.1 + 0-4 most likely no function – probably subjected to nonsense-mediated decay
  1. afrom Cell. 2012;149(4):912–922 and Cell.2012;149(4):923–935
  2. bparalogs have some additional variants