Aliases: RGS-PX1
Chromosome No: 7
Chromosome Band: 7p21.1
Genetic Category: Functional-Rare single gene variant
ASD Reports: 5
Recent Reports: 1
Annotated variants: 10
Associated CNVs: 11
Evidence score: 3
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Relevance to Autism
TADA analysis of an integrated cohort of over 40,000 ASD cases across unpublished and published global cohort in Tan et al., 2026 identified SNX13 as an ASD risk gene with a false discovery rare of <0.05; among the ASD-associated variants used in this analysis were four de novo loss-of-function variants (two identified in ASC probands, one in a MSSNG proband, and one in a SPARK proband) and three de novo missense variants (one identified in an ASC proband, two in SPARK probands).
Molecular Function
This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking.
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