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Protein AAR2 homolog (AAR2)
- Target
- AAR2
- Molecular classification
- Other (snRNP assembly factor)
01
Overview
Protein AAR2 homolog (AAR2) is a component of the U5 small nuclear ribonucleoprotein (snRNP) complex and is required for spliceosome assembly and pre-mRNA splicing in humans[6][3][2]. The human AAR2 protein is homologous to yeast Aar2p, which acts as a placeholder for SNRNP200 helicase during U5 snRNP assembly in yeast. In humans, AAR2 forms a complex with PRPF8, locking it into a conformation suitable for the first step of splicing, and its interactions are implicated in phosphorylation-dependent regulation during snRNP biogenesis[1][2]. Mutations or disruptions in AAR2 have been associated with genetic developmental disorders such as cerebellar malformation and ventricular septal defect[3]. There is no evidence supporting AAR2 as a receptor, enzyme, transporter, or therapeutic target class; its primary role is in RNA processing and splicing machinery[6][1][3][5].
- Other names
- AAR2C20orf4CGI-23PRO0225bA234K24.2AAR2 splicing factor homologprotein AAR2 homolog
02
Mechanism of action
null
03
Biological functions
Pre-mRNA splicingSpliceosome assembly (component of U5 snRNP complex)Assembly of small nuclear ribonucleoprotein particles (snRNPs), specifically U5 snRNPRegulation of snRNP-specific protein incorporation and snRNP recycling
04
Disease associations
Cerebellar malformationVentricular septal defectOther (role is associational and genetic, not as a direct drug target or major disease driver)
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