HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SRRM3
serine/arginine repetitive matrix 3
Chromosome 7 · 7q11.23
NCBI Gene: 222183Ensembl: ENSG00000177679.16HGNC: HGNC:26729UniProt: A0A087WXA3
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA splicingnegative regulation of insulin secretionmRNA bindingnegative regulation of glucagon secretionneurodegenerative diseaseovarian dysfunctionbipolar disorderAbnormality of the skeletal system
✦AI Summary

SRRM3 is an RNA-binding protein that functions as a master regulator of tissue-specific microexon splicing programs, with primary roles in pancreatic islet function and neuronal development. In pancreatic beta cells, SRRM3 regulates the inclusion of islet-specific microexons (IsletMICs) in genes controlling vesicle transport and exocytosis 1. SRRM3 expression is glucose-responsive, and its depletion leads to inappropriate insulin secretion and impaired glucose homeostasis 1. The mechanism involves fine-tuning protein function through precise microexon inclusion, with SRRM3 sensitivity determined by core splicing architecture and spliceosomal recruitment efficiency 2. In the nervous system, SRRM3 shares overlapping but distinct functions with its paralog SRRM4, together regulating microexon splicing in neuronal differentiation and GABAergic neurotransmission 3. While individual microexon deletions produce mild effects, simultaneous loss of SRRM3 and SRRM4 causes severe neurological phenotypes 4. Disease relevance includes genetic variants affecting SRRM3 expression associated with type 2 diabetes and fasting glucose variation 1, and dysregulation linked to pancreatic neuroendocrine tumors where SRRM3 upregulation promotes aberrant hormone secretion 5. Additionally, SRRM3 downregulation mediates tumor-suppressive effects in breast cancer through REST-003 regulation 6. SRRM3 represents a therapeutic target for metabolic and malignant diseases involving microexon misregulation 7.

Sources cited
1
SRRM3 regulates islet microexon inclusion in glucose-responsive manner, controlling insulin secretion and glucose homeostasis; SRRM3 mutations cause hyperinsulinaemic hypoglycaemia; genetic variants affecting SRRM3 associate with type 2 diabetes
PMID: 36759540
2
Microexon sensitivity to SRRM3 determined by core splicing architecture and spliceosomal recruitment efficiency
PMID: 40775527
3
SRRM3 and SRRM4 overlap in splicing regulation of GABAergic neurotransmission through REST inactivation; combined mutations cause severe splicing defects and neonatal lethality
PMID: 30995482
4
Loss of SRRM3 causes alterations in neuritogenesis, locomotion, and social behavior; individual microexon deletions produce mild effects suggesting cumulative impact of multiple disruptions
PMID: 41252189
5
SRRM3 upregulation in pancreatic neuroendocrine tumors promotes aberrant microexon inclusion affecting hormone secretion and tumor progression
PMID: 40682775
6
SRRM3 downregulation mediates RYBP-mediated tumor suppression in breast cancer through REST-003 regulation
PMID: 27748911
7
SRRM3 dysregulation linked to neurological conditions including autism and schizophrenia, and metabolic disorders including diabetes; represents therapeutic target for microexon-related diseases
PMID: 40393474
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.31Weak
ovarian dysfunctionOpen Targets
0.31Weak
bipolar disorderOpen Targets
0.20Weak
Abnormality of the skeletal systemOpen Targets
0.11Weak
Alzheimer diseaseOpen Targets
0.08Suggestive
Adult-onset autosomal recessive cerebellar ataxiaOpen Targets
0.06Suggestive
Spinocerebellar ataxia type 40Open Targets
0.06Suggestive
spinocerebellar ataxia type 15/16Open Targets
0.06Suggestive
Dysequilibrium syndromeOpen Targets
0.06Suggestive
Rare hereditary ataxiaOpen Targets
0.06Suggestive
spinocerebellar ataxia type 35Open Targets
0.06Suggestive
infantile-onset autosomal recessive nonprogressive cerebellar ataxiaOpen Targets
0.06Suggestive
spinocerebellar ataxia type 12Open Targets
0.06Suggestive
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaOpen Targets
0.06Suggestive
spinocerebellar ataxia type 37Open Targets
0.05Suggestive
spinocerebellar ataxia type 31Open Targets
0.05Suggestive
spinocerebellar ataxia type 23Open Targets
0.05Suggestive
spinocerebellar ataxia type 20Open Targets
0.05Suggestive
spinocerebellar ataxia type 17Open Targets
0.05Suggestive
spastic ataxia 2Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDC5LProtein interaction100%CWC15Protein interaction100%SYF2Protein interaction100%BUD31Protein interaction100%SNRNP200Protein interaction100%SNW1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
99%
Heart
85%
Lung
6%
Liver
4%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
SRRM3CDC5LCWC15SYF2BUD31SNRNP200SNW1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A0A087WXA3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.49–0.92]
RankingsWhere SRRM3 stands among ~20K protein-coding genes
  • #16,319of 20,598
    Most Researched13
  • #8,512of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedSRRM3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Pancreatic microexons regulate islet function and glucose homeostasis.
PMID: 36759540
Nat Metab · 2023
1.00
2
Phenotypic impact of individual conserved neuronal microexons and their master regulators in zebrafish.
PMID: 41252189
Elife · 2025
0.90
3
Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis.
PMID: 32826979
Commun Biol · 2020
0.80
4
From Tiny Exons to Big Insights: The Expanding Field of Microexons.
PMID: 40393474
Annu Rev Genomics Hum Genet · 2025
0.70
5
An SRRM3-regulated neural alternative splicing program is subverted to promote tumor progression in pancreatic neuroendocrine cells.
PMID: 40682775
Cell Rep · 2025
0.60