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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SNRNP40
small nuclear ribonucleoprotein U5 subunit 40
Chromosome 1 · 1p35.2
NCBI Gene: 9410Ensembl: ENSG00000060688.14HGNC: HGNC:30857UniProt: A0MNP2
139PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nuclear speckcatalytic step 2 spliceosomeRNA bindingprotein bindingneurodegenerative diseasedengue diseaseGriscelli diseaseGriscelli syndrome type 3
✦AI Summary

SNRNP40 is a core component of the U5 small nuclear ribonucleoprotein (snRNP) complex and the U4/U6-U5 tri-snRNP complex, which are essential building blocks of the spliceosome 12. As part of the activated spliceosome, SNRNP40 is required for pre-mRNA splicing through transesterification reactions 34. The protein participates in spliceosomal conformational changes and likely contributes to minor spliceosome function involving U12-type intron splicing. Clinically, SNRNP40 dysregulation is implicated in cancer progression. Low SNRNP40 expression promotes metastatic colonization in breast cancer and is associated with metastatic relapse 5. Additionally, SNRNP40 variants and altered expression have been identified in acute leukemia stemness networks 6, pancreatic cancer-associated stellate cells 7, and non-muscle invasive bladder cancer 8. A maternal genetic variant in SNRNP40 is associated with preterm prelabor rupture of membranes 9. While SNRNP40 mutations occur in U5 snRNP-related disorders, the mechanisms underlying tissue-specific disease phenotypes remain unclear 10, representing an important area for future investigation.

Sources cited
1
SNRNP40 is required for pre-mRNA splicing as a component of the activated spliceosome
PMID: 11991638
2
SNRNP40 is a component of the U5 snRNP complex and the U4/U6-U5 tri-snRNP complex
PMID: 16723661
3
SNRNP40 is part of the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome
PMID: 26912367
4
SNRNP40 functions in pre-mRNA splicing within the activated spliceosome
PMID: 28076346
5
Low SNRNP40 expression promotes metastatic colonization in breast cancer and associates with metastatic relapse
PMID: 27138336
6
SNRNP40 mutations are associated with cancer and U5 snRNP-related disorders
PMID: 33584830
7
SNRNP40 variant rs117573344 is associated with preterm prelabor rupture of membranes
PMID: 37054626
8
SNRNP40 is a key stemness-related gene in acute myeloid leukemia identified through machine learning analysis
PMID: 34411647
9
SNRNP40 variants are identified in cancer-associated pancreatic stellate cells
PMID: 35941161
10
SNRNP40 is detected exclusively in non-muscle invasive bladder cancer tumor tissues
PMID: 41587934
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
dengue diseaseOpen Targets
0.37Weak
Griscelli diseaseOpen Targets
0.07Suggestive
Griscelli disease type 3Open Targets
0.07Suggestive
Griscelli syndrome type 3Open Targets
0.07Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.06Suggestive
isolated agammaglobulinemiaOpen Targets
0.06Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.06Suggestive
gamma chain deficiencyOpen Targets
0.06Suggestive
Severe combined immunodeficiency due to adenosine deaminase deficiencyOpen Targets
0.05Suggestive
activated PI3K-delta syndromeOpen Targets
0.05Suggestive
Immunodeficiency by defective expression of HLA class 2Open Targets
0.05Suggestive
severe combined immunodeficiency due to DCLRE1C deficiencyOpen Targets
0.05Suggestive
combined immunodeficiency due to ZAP70 deficiencyOpen Targets
0.05Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.05Suggestive
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.05Suggestive
autoimmune diseaseOpen Targets
0.05Suggestive
severe combined immunodeficiency due to LAT deficiencyOpen Targets
0.05Suggestive
common variable immunodeficiencyOpen Targets
0.05Suggestive
uncombable hair syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPIEProtein interaction100%XAB2Protein interaction100%RBM22Protein interaction100%BCAS2Protein interaction100%PRPF19Protein interaction100%CDC40Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
86%
Ovary
64%
Lung
61%
Heart
53%
Liver
47%
Gene Interaction Network
Click a node to explore
SNRNP40PPIEXAB2RBM22BCAS2PRPF19CDC40
PROTEIN STRUCTURE
Preparing viewer…
PDB8H6L · 2.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.83Intermediate
Observed/Expected LoF0.34 [0.21–0.58]
RankingsWhere SNRNP40 stands among ~20K protein-coding genes
  • #3,324of 20,598
    Most Researched139 · top quartile
  • #3,885of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedSNRNP40
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Highly variable cancer subpopulations that exhibit enhanced transcriptome variability and metastatic fitness.
PMID: 27138336
Nat Commun · 2016
1.00
2
The Role of the U5 snRNP in Genetic Disorders and Cancer.
PMID: 33584830
Front Genet · 2021
0.88
3
Novel genetic variants linked to prelabor rupture of membranes among Chinese pregnant women.
PMID: 37054626
Placenta · 2023
0.75
4
The Role of Hemoglobin Subunit Delta in the Immunopathy of Multiple Sclerosis: Mitochondria Matters.
PMID: 34504491
Front Immunol · 2021
0.63
5
Analysis of genomic alterations in cancer associated human pancreatic stellate cells.
PMID: 35941161
Sci Rep · 2022
0.50