HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RBPMS2
RNA binding protein, mRNA processing factor 2
Chromosome 15 · 15q22.31
NCBI Gene: 348093Ensembl: ENSG00000166831.10HGNC: HGNC:19098UniProt: Q6ZRY4
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolcytoplasmic stress granulemRNA bindingprotein bindingmale reproductive organ cancerdiabetes mellitusMicroscopic hematuriacoronary artery disease
✦AI Summary

RBPMS2 is an RNA-binding protein with diverse roles in post-transcriptional regulation. In cardiac tissue, RBPMS2 functions as a myocardial-enriched splicing regulator essential for proper heart function 1. RBPMS2-deficient cardiomyocytes exhibit reduced ejection fraction, myofibril disarray, and altered calcium handling, with conserved regulation of alternative splicing in genes including MYBPC3 and SLC8A1 1. Beyond the heart, RBPMS2 acts as a binary fate-switch in oogenesis, repressing testis factors while promoting oocyte progression through translational regulation and mTORC1 signaling 2. In gastric cancer, RBPMS2 expression is dysregulated and associates with poor prognosis 3. High RBPMS2 expression promotes gastric cancer cell proliferation and metastasis while inhibiting pyroptosis via suppression of the NLRP3/caspase-1/GSDMD pathway 45. Additionally, RBPMS2 expression alterations in peripheral blood mononuclear cells correlate with idiopathic pulmonary arterial hypertension pathogenesis 6. Overall, RBPMS2 represents a multifunctional regulator with critical roles in cardiac function, sexual differentiation, and disease pathogenesis, making it a potential therapeutic target.

Sources cited
1
RBPMS2 is a myocardial-enriched splicing regulator required for cardiac function, alternative splicing of genes including MYBPC3 and SLC8A1, and calcium handling
PMID: 36367103
2
RBPMS2 acts as a translational regulator and binary fate-switch in oogenesis, promoting oocyte factors through mTORC1/Gator2 signaling pathway
PMID: 38898112
3
DNA methylation of RBPMS2 is increased in gastric cancer and associated with downregulation of RBPMS2 expression, poor survival, and tumor progression
PMID: 35137653
4
High RBPMS2 expression in gastric cancer cells promotes proliferation, invasion, and migration while inhibiting pyroptosis via suppression of NLRP3/caspase-1/GSDMD pathway
PMID: 40595708
5
RBPMS2 is upregulated in gastric cancer tissues and associated with lymph node metastasis and tumor mutation burden
PMID: 34981466
6
RBPMS2 expression is altered in both peripheral blood mononuclear cells and lung tissues of idiopathic pulmonary arterial hypertension patients
PMID: 34981661
7
RBPMS2 and Noggin protein expression patterns in gastric cancer associate with clinicopathological features and patient prognosis
PMID: 34001012
8
RBPMS2 is robustly expressed in embryonic myocardium and likely performs critical functions in cardiomyocyte differentiation, proliferation, survival, and contractility
PMID: 31399780
Disease Associationsⓘ20
male reproductive organ cancerOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.26Weak
Microscopic hematuriaOpen Targets
0.22Weak
coronary artery diseaseOpen Targets
0.17Weak
gastric cancerOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.07Suggestive
Griscelli diseaseOpen Targets
0.07Suggestive
Griscelli disease type 3Open Targets
0.06Suggestive
Griscelli syndrome type 3Open Targets
0.06Suggestive
uncombable hair syndrome 2Open Targets
0.06Suggestive
early-onset non-syndromic cataractOpen Targets
0.05Suggestive
Tietz syndromeOpen Targets
0.05Suggestive
Tietze syndromeOpen Targets
0.05Suggestive
uncombable hair syndromeOpen Targets
0.05Suggestive
Cataract-microcornea syndromeOpen Targets
0.05Suggestive
isolated familial wooly hair disorderOpen Targets
0.05Suggestive
Woolly hairOpen Targets
0.05Suggestive
oculocutaneous albinism type 3Open Targets
0.05Suggestive
primary ovarian insufficiencyOpen Targets
0.05Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RBPMSProtein interaction81%RBFOX2Protein interaction80%ESRP1Protein interaction76%VWC2LShared pathway20%SKOR1Shared pathway20%ARGLU1Shared pathway20%
Tissue Expression6 tissues
Heart
100%
Liver
6%
Ovary
4%
Lung
3%
Brain
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
RBPMS2RBPMSRBFOX2ESRP1VWC2LSKOR1ARGLU1
PROTEIN STRUCTURE
Preparing viewer…
PDB2M9K · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.40–0.95]
RankingsWhere RBPMS2 stands among ~20K protein-coding genes
  • #14,517of 20,598
    Most Researched19
  • #8,975of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedRBPMS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RBPMS2 Is a Myocardial-Enriched Splicing Regulator Required for Cardiac Function.
PMID: 36367103
Circ Res · 2022
1.00
2
Rbpms2 promotes female fate upstream of the nutrient sensing Gator2 complex component Mios.
PMID: 38898112
Nat Commun · 2024
0.90
3
Exploring the Activities of RBPMS Proteins in Myocardial Biology.
PMID: 31399780
Pediatr Cardiol · 2019
0.80
4
DNA methylation of RNA-binding protein for multiple splicing 2 functions as diagnosis biomarker in gastric cancer pathogenesis and its potential clinical significance.
PMID: 35137653
Bioengineered · 2022
0.70
5
RBPMS2 can inhibit the NLRP3 / caspase-1 / GSDMD signaling pathway to resist pyroptosis in gastric cancer cells.
PMID: 40595708
Sci Rep · 2025
0.60