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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RBPMS
RNA binding protein, mRNA processing factor
Chromosome 8 · 8p12
NCBI Gene: 11030Ensembl: ENSG00000157110.16HGNC: HGNC:19097UniProt: B4E3T4
68PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusnucleoplasmcytoplasmcytosoluterine fibroidatrial fibrillationrenal carcinomasmoking initiation
✦AI Summary

RBPMS is an RNA-binding protein that functions primarily as a regulator of pre-mRNA alternative splicing (AS) 1. The protein recognizes tandem intronic CAC motifs in target genes and associates with spliceosome factors and other RNA-binding proteins like RBM20 to modulate AS events 2. In cardiac tissue, RBPMS is essential for maintaining normal cardiomyocyte function. Cardiac-specific loss of RBPMS causes severe contractile defects and dilated cardiomyopathy by dysregulating AS of sarcomeric genes including Ttn, Pdlim5, and Nexn 2. During development, RBPMS mediates cardiomyocyte binucleation through Pdlim5 isoform switching, and its loss causes premature binucleation and cell cycle arrest, leading to congenital cardiovascular defects 3. RBPMS also promotes contractile vascular smooth muscle cell differentiation through MYOCD alternative splicing, thereby inhibiting atherosclerotic plaque development and postintervention restenosis 4. Beyond cardiac function, RBPMS acts as a coactivator of SMAD transcriptional activity in TGFβ signaling 1. In bladder cancer, RBPMS downregulation correlates with poor prognosis, and restoration of RBPMS suppresses cancer cell migration by attenuating MYC pathway activity through ANKRD10 alternative splicing 5. In retinal ganglion cells, RBPMS localizes to soma under normal conditions but redistributes to dendrites and axons under hypoxic stress, suggesting roles in neuronal stress responses 6.

Sources cited
1
RBPMS binds mRNA, acts as a coactivator of SMAD transcriptional activity in TGFβ signaling through SMAD2/3 phosphorylation and nuclear accumulation
PMID: 17099224
2
RBPMS regulates cardiomyocyte contraction through AS of sarcomeric genes (Ttn, Pdlim5, Nexn) by recognizing intronic CAC motifs and associating with spliceosome factors
PMID: 37890031
3
RBPMS loss causes congenital cardiovascular defects through premature cardiomyocyte binucleation and cytokinesis arrest via abnormal Pdlim5 isoform accumulation
PMID: 35472321
4
RBPMS promotes contractile VSMC phenotype through MYOCD alternative splicing, reducing atherosclerotic plaque development and restenosis
PMID: 39999164
5
RBPMS downregulation in bladder cancer correlates with poor prognosis; RBPMS suppresses cancer cell migration through ANKRD10 AS and MYC pathway attenuation
PMID: 40044952
6
RBPMS is expressed exclusively in retinal ganglion cells and redistributes from soma to dendrites/axons under hypoxic stress and neuronal damage
PMID: 33297577
Disease Associationsⓘ20
uterine fibroidOpen Targets
0.42Moderate
atrial fibrillationOpen Targets
0.42Moderate
renal carcinomaOpen Targets
0.41Moderate
smoking initiationOpen Targets
0.30Weak
preeclampsiaOpen Targets
0.29Weak
Uterine leiomyomaOpen Targets
0.29Weak
thyroid cancerOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.27Weak
myeloproliferative disorderOpen Targets
0.27Weak
Inguinal herniaOpen Targets
0.27Weak
ovarian neoplasmOpen Targets
0.26Weak
Sensorineural hearing impairmentOpen Targets
0.26Weak
hearing lossOpen Targets
0.26Weak
oropharynx cancerOpen Targets
0.21Weak
ThromboembolismOpen Targets
0.17Weak
ovarian dysfunctionOpen Targets
0.15Weak
ovarian cancerOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
bladder transitional cell carcinomaOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
QKIProtein interaction97%RBFOX2Protein interaction91%RBPMS2Protein interaction81%ATN1Protein interaction78%ATXN1Protein interaction78%DCTN6Protein interaction78%
Tissue Expression6 tissues
Ovary
100%
Heart
70%
Liver
52%
Lung
48%
Brain
2%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
RBPMSQKIRBFOX2RBPMS2ATN1ATXN1DCTN6
PROTEIN STRUCTURE
Preparing viewer…
PDB5CYJ · 1.79 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.73LoF Tolerant
pLIⓘ
0.50Tolerant
Observed/Expected LoF0.37 [0.20–0.73]
RankingsWhere RBPMS stands among ~20K protein-coding genes
  • #6,939of 20,598
    Most Researched68
  • #5,710of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedRBPMS
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RBPMS regulates cardiomyocyte contraction and cardiac function through RNA alternative splicing.
PMID: 37890031
Cardiovasc Res · 2024
1.00
2
NRG1 fusion-driven tumors: biology, detection, and the therapeutic role of afatinib and other ErbB-targeting agents.
PMID: 32916265
Ann Oncol · 2020
0.90
3
RBPMS is an RNA-binding protein that mediates cardiomyocyte binucleation and cardiovascular development.
PMID: 35472321
Dev Cell · 2022
0.80
4
The RNA-binding protein RBPMS inhibits smooth muscle cell-driven vascular remodeling in atherosclerosis and vascular injury.
PMID: 39999164
Proc Natl Acad Sci U S A · 2025
0.70
5
RBPMS inhibits bladder cancer metastasis by downregulating MYC pathway through alternative splicing of ANKRD10.
PMID: 40044952
Commun Biol · 2025
0.60