RBM8A
RNA-binding motif protein 8A; a core component of the exon junction complex involved in mRNA splicing, transport, and nonsense-mediated decay
Gene Information Card
| Symbol | RBM8A |
|---|---|
| Full Name | RNA binding motif protein 8A |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 9939 ncbi.nlm.nih.gov/gene/9939 |
| Ensembl ID | ENSG00000131795 |
| UniProt ID | Q9Y5S9 |
| OMIM ID | 605313 |
| HGNC ID | 9904 |
| Aliases | Y14, MDS014, ZC3H18, RBM8 |
Description
RBM8A encodes a protein that is a core component of the exon junction complex (EJC). The EJC is deposited on spliced mRNAs and plays essential roles in post-transcriptional regulation, including mRNA export, subcellular localization, translation enhancement, and nonsense-mediated mRNA decay (NMD). RBM8A interacts with other EJC components such as MAGOH and eIF4A3. Mutations in RBM8A are associated with thrombocytopenia with absent radii (TAR) syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thrombocytopenia with absent radii (TAR) syndrome | Compound heterozygous mutations (e.g., 5' UTR deletion and hypomorphic allele) reduce RBM8A expression, impairing EJC function and leading to defective hematopoiesis and limb development. | ClinVar, OMIM |
| Myelodysplastic syndrome | RBM8A haploinsufficiency may contribute to hematopoietic defects; somatic mutations reported in rare cases. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Testis | 8.9 | Medium |
| Brain | 6.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 14.8 | Leukemia cell line; high expression |
| HEK293 | 11.2 | Embryonic kidney; moderate expression |
| HeLa | 9.5 | Cervical carcinoma; moderate expression |
| HepG2 | 7.3 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.-21G>A (5' UTR) | SNV | Common in TAR syndrome | Reduces RBM8A mRNA translation efficiency |
| c.67+1G>A | Splice donor | Rare | Disrupts splicing, leading to loss of function |
| c.121A>G (p.Lys41Glu) | Missense | Rare | Alters RNA binding; hypomorphic effect |
Mutation functional classification
Loss of Function (LOF)
Splice-site and 5' UTR mutations reduce RBM8A protein levels, impairing EJC assembly and NMD.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; TAR syndrome requires biallelic hypomorphic mutations.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA binding |
| • nuclear speck | • exon junction complex |
| • nonsense-mediated mRNA decay | • mRNA export from nucleus |
| • regulation of translation |
Pathways
• Exon junction complex pathway
• Nonsense-mediated decay (NMD)
• mRNA surveillance pathway
Protein Summary
RBM8A (Y14) is a 174-amino-acid RNA-binding protein that forms a heterodimer with MAGOH and associates with eIF4A3 to constitute the core exon junction complex. It contains an RNA recognition motif (RRM) and a C-terminal region that mediates protein-protein interactions. The protein shuttles between nucleus and cytoplasm and is essential for proper mRNA metabolism.
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