rs892055
This is a protein-altering variant in the RASGRP4 gene.
▶Research that mentions this SNP (1)
▶Variants in several genomic regions associated with asperger disorderAssociationN=860Salyakina D. et al.(2010)· Autism Research
Genome-wide association study in 124 families with Asperger disorder (discovery) and 110 families (validation) identified novel susceptibility loci on 5q21.1 (P = 9.7 × 10⁻⁷, rs4703129) and 15q22.1-q22.2 (P = 7.3 × 10⁻⁶, rs4775101) associated with Asperger disorder. The study confirmed three regions previously linked to Asperger disorder in Finnish families (3p14.2, 3q25-26, 3p23) and identified 26 candidate genes, suggesting that Asperger disorder shares both ASD-related genetic risk factors as well as unique genetic risk factors.
About RASGRP4
The protein encoded by this gene is a member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine nucleotide exchange factors. It contains a Ras exchange motif, a diacylglycerol-binding domain, and two calcium-binding EF hands. This protein was shown to activate H-Ras in a cation-dependent manner in vitro. Expression of this protein in myeloid cell lines was found to be correlated with elevated level of activated RAS protein, and the RAS activation can be greatly enhanced by phorbol ester treatment, which suggested a role of this protein in diacylglycerol regulated cell signaling pathways. Studies of a mast cell leukemia cell line expressing substantial amounts of abnormal transcripts of this gene indicated that this gene may play an important role in the final stages of mast cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
View all RASGRP4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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