Target intelligence / Profile preview

RUN and SH3 domain containing protein 2 (RUSC2)

Target
RUSC2
Molecular classification
Other (adaptor/accessory protein, AP-4 complex accessory subunit)
01

Overview

RUN and SH3 domain containing protein 2 (RUSC2) is a cytoplasmic protein characterized by the presence of RUN and SH3 domains. It interacts with the small GTPase Rab1b and its binding partner GM130 and associates with the adaptor protein complex 4 (AP-4)[1][3][5][7][10]. RUSC2 appears to participate in protein vesicular trafficking, particularly at the trans-Golgi network, potentially acting as an accessory or adaptor component in sorting or transport functions[1][3][7]. Mutations in RUSC2 are linked to rare inherited intellectual developmental disorders and syndromic conditions involving the nervous and digestive systems[1]. There is currently no evidence in the literature or main gene/protein databases that RUSC2 is a direct therapeutic target, nor are there any known drugs or biomarker applications associated with this protein[1][3][5][10].

Other names
AP-4 complex accessory subunit RUSC2KIAA0375IporinInteracting protein of Rab1MRT61RUN and SH3 domain-containing protein 2
02

Biological functions

Vesicular traffickingProtein-protein interaction (notably with Rab1b and GM130)
03

Disease associations

Intellectual developmental disorder (autosomal recessive 61)Alacrima, achalasia, and impaired intellectual development syndrome

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