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4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SNRNP27
small nuclear ribonucleoprotein U4/U6.U5 subunit 27
Chromosome 2 · 2p13.3
NCBI Gene: 11017Ensembl: ENSG00000124380.12HGNC: HGNC:30240UniProt: Q8WVK2
49PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprecatalytic spliceosomenucleic acid bindingnucleusneurodegenerative diseasecardiac arrhythmiaatrial fibrillationintelligence
✦AI Summary

SNRNP27 (small nuclear ribonucleoprotein U4/U6.U5 subunit 27) is a component of the precatalytic spliceosome that plays a critical role in mRNA splicing via the spliceosome 1. The protein functions through protein-protein interactions within the tri-snRNP complex, where its M141 residue interacts with SNU66 to stabilize the U4/U6 quasi-pseudo knot structure at the U6 snRNA ACAGAGA box during spliceosome assembly 1. This interaction is essential for maintaining 5' splice site identity during the transition from pre-B to catalytic complex; mutations at M141 promote aberrant alternative 5' splice site usage, indicating SNRNP27's role in splice site fidelity 1. Clinically, SNRNP27 has relevance to atrial fibrillation (AF) susceptibility, as the gene is located at the 1q24 locus and displays genome-wide significant cis-expression quantitative trait loci regulation by common genetic variants 2. This suggests altered SNRNP27 expression may contribute to AF risk through disrupted splicing regulation. Additionally, SNRNP27 has been identified as a potential target of miR-146b-5p, an IL-6-inducible microRNA involved in hepatic inflammatory responses 3, suggesting post-transcriptional regulation of SNRNP27 in inflammatory contexts.

Sources cited
1
SNRNP27 M141 interacts with SNU66 to stabilize U4/U6 quasi-pseudo knot and maintain 5' splice site identity during spliceosome assembly
PMID: 38443114
2
SNRNP27 at 1q24 locus displays genome-wide significant cis-expression quantitative trait loci associated with atrial fibrillation susceptibility
PMID: 29545482
3
SNRNP27 is identified as a novel target of miR-146b-5p, an IL-6-inducible microRNA in hepatocytes
PMID: 30145833
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
cardiac arrhythmiaOpen Targets
0.15Weak
atrial fibrillationOpen Targets
0.15Weak
intelligenceOpen Targets
0.12Weak
heart diseaseOpen Targets
0.09Suggestive
atrial flutterOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
cardioembolic strokeOpen Targets
0.05Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
X-linked retinal dysplasiaOpen Targets
0.04Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.04Suggestive
Stargardt diseaseOpen Targets
0.04Suggestive
Familial drusenOpen Targets
0.04Suggestive
Barrett's esophagusOpen Targets
0.04Suggestive
X-linked retinoschisisOpen Targets
0.04Suggestive
placenta praeviaOpen Targets
0.04Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
gastroesophageal reflux diseaseOpen Targets
0.04Suggestive
schizophrenia 15Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PRPF3Protein interaction100%SNRPGProtein interaction100%LSM7Protein interaction100%LSM5Protein interaction100%SF3A2Protein interaction100%PRPF8Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
83%
Bone Marrow
70%
Lung
42%
Ovary
38%
Liver
32%
Gene Interaction Network
Click a node to explore
SNRNP27PRPF3SNRPGLSM7LSM5SF3A2PRPF8
PROTEIN STRUCTURE
Preparing viewer…
PDB6QW6 · 2.92 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.73LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.07 [0.66–1.73]
RankingsWhere SNRNP27 stands among ~20K protein-coding genes
  • #9,019of 20,598
    Most Researched49
  • #16,264of 17,882
    Most Constrained (LOEUF)1.73
Genes detectedSNRNP27
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Cytokine-mediated modulation of the hepatic miRNome: miR-146b-5p is an IL-6-inducible miRNA with multiple targets.
PMID: 30145833
J Leukoc Biol · 2018
1.00
2
Genetic Control of Left Atrial Gene Expression Yields Insights into the Genetic Susceptibility for Atrial Fibrillation.
PMID: 29545482
Circ Genom Precis Med · 2018
0.75
3
A role for SNU66 in maintaining 5' splice site identity during spliceosome assembly.
PMID: 38443114
RNA · 2024
0.50
4
Altered expression of a novel cellular gene as a consequence of integration of human T cell lymphotropic virus type 1.
PMID: 7931148
J Gen Virol · 1994
0.25