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Target intelligence / Profile preview
RNA binding motif protein, X-linked 2 (RBMX2)
- Target
- RBMX2
- Molecular classification
- Other (RNA-binding protein), Spliceosome-associated protein
01
Overview
RBMX2 encodes an RNA-binding protein localized in the nucleus, endoplasmic reticulum, and nucleolus, and is a core component of both the major and minor spliceosome complexes, contributing to pre-mRNA splicing including the processing of U12-type introns. Mutations in RBMX2, notably Alu element deletions, have been linked to bipolar disorder, syndromic X-linked intellectual disability, epilepsy, and hematological disorders such as X-linked thrombophilia. The protein plays a central role in brain development and function, and malfunction or structural variants may contribute to the risk and pathology of several neurological diseases.
- Other names
- RBMX2Snu17CGI-79
02
Biological functions
mRNA splicing via the spliceosomeRNA binding activity
03
Disease associations
Syndromic X-linked intellectual disabilityThrombophilia, X-linked, due to factor IX defectBipolar disorderEpilepsy and other neurological disorders
04
Safety considerations
Deleterious mutations (e.g., Alu deletions) are implicated in neurological and hematological disorders.
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