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RNA-binding motif protein 14–RNA-binding motif protein 4 fusion (RBM14-RBM4)

Target
RBM14-RBM4
Molecular classification
Other (fusion transcript; not a classical receptor, enzyme, or ion channel)
01

Overview

The term "RBM14-RBM4" refers to a naturally occurring readthrough fusion transcript between the adjacent RBM14 (RNA-binding motif protein 14) and RBM4 (RNA-binding motif protein 4) genes. Alternative splicing of this readthrough event results in multiple transcript variants, with at least one encoding a fusion protein sharing sequence identity with both parent gene products. The fusion protein contains RNA recognition motifs (RRMs) and zinc finger domains and is known to function as a transcriptional coactivator, stimulating transcription in a hormone- and receptor-dependent manner. This is a gene fusion event rather than a typical druggable target such as a receptor, enzyme, or transporter. Diseases associated with this locus include marginal corneal ulcer and spinal muscular atrophy with progressive myoclonic epilepsy. Standard small-molecule drugs targeting this readthrough product are not known[1][3][4]. Key notes: - This is a **fusion gene product** and not a classical therapeutic target or receptor[1][3][4]. - "RBM14-RBM4" refers to a transcriptional coactivator/chimeric protein formed by readthrough between two RNA-binding protein genes[1][3][4]. - There are no documented small-molecule drugs or known mechanisms of action targeting this fusion protein[4]. - This entity may be present in certain datasets for expression or pathway analysis, but is not established as a direct therapeutic target.

Other names
COAZPSP2RBM14SIPRBM14-RBM4 proteinParaspeckle protein 2RBM14/RBM4 fusionRNA-binding motif protein 14RNA-binding protein 14RRM-containing coactivator activator/modulatorSYT-interacting proteinSynaptotagmin-interacting proteintranscriptional coactivator CoAZRBM14-RBM4
02

Biological functions

Transcriptional coactivationRNA bindingHormone and receptor-dependent transcription stimulation
03

Disease associations

Marginal corneal ulcerSpinal muscular atrophy with progressive myoclonic epilepsy

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