Date of Report

Jan 25, 2024

Full Name

RNA-binding protein 28

Chromosome 7 (7q32.1)


RNA-binding protein RBM28 is a constituent of spliceosomal small nuclear ribonucleoproteins within the nucleolus (Lin et al., 2022). It responds to nucleolar stress and associates specifically with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), potentially coordinating their movement within the nucleolus.

Database Links

GeneCards: RBM28

NCBI Gene: 55131

OMIM: 612074

UniProtKB/Swiss-Prot: Q9NW13

Clinical Significance

Compound heterozygous changes in this gene were identified in a UDN participant.

Gene RBM28
Inheritance Pattern Autosomal recessive
Position (hg19) chr7:g.127957755C>T & chr7:g.127961390_ 127961393dup
Transcript NM_018077.2
DNA Change c.1745G>A & c.1489_1492dupGCTG
Protein Change p.Arg582Gln & p.Val498GlyfsTer4
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