Gene: SRGAP2

Alternate names for this Gene: ARHGAP34|FNBP2|SRGAP2A|SRGAP3

Gene Summary: This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.1

Description of this Gene: SLIT-ROBO Rho GTPase activating protein 2

Type of Gene: protein-coding

rs2483058 in SRGAP2 gene and High density lipoprotein measurement PMID 23031429 2012 We found one locus associated with intra-pair differences in high-density lipoprotein cholesterol, rs2483058 in an intron of SRGAP2, where twins carrying the C allele are more sensitive to environmental factors(P=3.98 x 10-8).

rs2480408 in SRGAP2 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.