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RBM10
RNA binding motif protein 10
RBM10 is located on the short (p) arm of chromosome X, at band Xp11.3. Arm ratio per GRCh38 - banding schematic.
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Overview
RBM10 encodes RNA binding motif protein 10, a member of the RNA-binding protein family that plays a regulatory role in gene expression. The protein is involved in alternative splicing, the cellular process through which a single gene can produce multiple messenger RNA transcripts and therefore multiple protein variants. This editing mechanism is essential for normal development and cellular function.
Because RBM10 is located on the X chromosome, the inheritance pattern and clinical presentation of pathogenic variants can vary between males and females. Males typically have one copy of the gene, whilst females have two copies, which can influence how variants manifest clinically. Research into RBM10 continues to clarify its role in human development and disease.
What the gene does
The RBM10 protein functions primarily as a regulator of alternative splicing, the process by which cells select different combinations of exons from pre-messenger RNA to create diverse protein products. By binding to specific RNA sequences, RBM10 influences which portions of the genetic message are included or excluded in the final mature transcript.
RNA-binding proteins like RBM10 recognise particular sequence motifs within RNA molecules and help coordinate the splicing machinery that cuts and joins RNA segments. This regulation allows cells to fine-tune gene expression in response to developmental cues and environmental signals. Proper splicing control is particularly important during embryonic development, when cells must produce precisely timed patterns of protein expression.
The protein appears to participate in broader regulatory networks that coordinate cell growth and differentiation. Disruption of RBM10 function can therefore alter the balance of protein variants produced in the cell, potentially affecting multiple cellular processes simultaneously.
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Chromosome location
RBM10 is located on the short arm of the X chromosome at position Xp11.3, a region that contains numerous genes involved in development and cellular regulation. The X-chromosomal location means that males inherit only one copy of the gene from their mothers, whilst females inherit one copy from each parent.
This chromosomal position has implications for inheritance patterns and clinical expression of variants. In females, X-inactivation may influence whether a pathogenic variant manifests, as one X chromosome is randomly silenced in each cell during development.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Pathogenic variants in RBM10 can disrupt the protein's ability to regulate RNA splicing effectively. These changes may include missense variants that alter the RNA-binding properties of the protein, nonsense variants that produce a truncated non-functional protein, or splice-site variants that affect production of the RBM10 transcript itself.
The clinical impact of a variant often depends on its location within the gene and the nature of the amino acid change or structural disruption it causes. Because RBM10 is X-linked, the same variant may have different effects in males and females.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
Variants in RBM10 have been investigated in research studies examining developmental conditions, though the gene is not currently part of routine NHS clinical panels. The X-chromosomal location and role in splicing regulation suggest that RBM10 variants could affect multiple aspects of development and cellular function.
Research continues to define the full spectrum of conditions associated with RBM10 variants. As with many genes involved in fundamental cellular processes, the clinical presentation may vary considerably between individuals, reflecting differences in the specific variant, genetic background, and other modifying factors.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
Why does RBM10 being on the X chromosome matter?
Because males have only one X chromosome, they have just one copy of RBM10, whilst females have two copies. This means males cannot compensate for a pathogenic variant with a second functional copy, which can influence how variants manifest clinically.
What is alternative splicing and why is it important?
Alternative splicing is the process by which cells select different segments of a gene's message to create multiple protein variants from a single gene. This allows cells to produce diverse proteins suited to different tissues and developmental stages, greatly expanding the functional capacity of the genome.
Is genetic testing for RBM10 available through the NHS?
RBM10 is not currently included in routine NHS clinical gene panels. Testing availability depends on individual clinical circumstances and should be discussed with a healthcare provider or genetic counsellor who can advise on appropriate testing options.