SNRPN Gene - Small Nuclear Ribonucleoprotein Polypeptide N
Key regulator of RNA splicing and genomic imprinting in Prader-Willi syndrome
Gene Information Card
| Symbol | SNRPN |
|---|---|
| Full Name | Small Nuclear Ribonucleoprotein Polypeptide N |
| Gene Type | Protein coding |
| Chromosomal Location | 15q11.2 |
| NCBI Gene ID | 6638 ncbi.nlm.nih.gov/gene/6638 |
| Ensembl ID | ENSG00000128739 |
| UniProt ID | P63162 |
| OMIM ID | 182279 |
| HGNC ID | 11164 |
| Aliases | SMN, SNRNP-N, Sm-N, SM-D, SM-D1 |
Description
The SNRPN gene encodes the small nuclear ribonucleoprotein-associated polypeptide N (SmN), a core component of the spliceosomal U1, U2, U4/U6, and U5 snRNPs. SmN is involved in pre-mRNA splicing and is subject to genomic imprinting, being expressed exclusively from the paternal allele in most tissues. Loss of paternal SNRPN expression due to deletion or imprinting defects on chromosome 15q11-q13 leads to Prader-Willi syndrome (PWS). The gene is part of the SNURF-SNRPN bicistronic transcript and includes multiple small nucleolar RNA (snoRNA) genes within its introns.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prader-Willi syndrome | Loss of paternal SNRPN expression due to deletion (70%), maternal uniparental disomy (25%), or imprinting defects (5%) disrupts RNA splicing and snoRNA function | OMIM #176270; ClinVar; NCBI Gene |
| Angelman syndrome | Maternal deletion of 15q11-q13 (including UBE3A) but SNRPN is paternally expressed; not directly causative | OMIM #105830; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.5 | Medium |
| Brain (cortex) | 10.8 | Medium |
| Testis | 8.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.4 | Neuronal model |
| HeLa (cervical carcinoma) | 9.7 | Epithelial |
| HEK293 (embryonic kidney) | 7.3 | Transformed |
| K562 (leukemia) | 5.1 | Myeloid |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Deletion of 15q11-q13 (paternal) | Copy number loss | ~70% of PWS | Loss of SNRPN and snoRNA expression; PWS phenotype |
| Maternal uniparental disomy 15 | UPD | ~25% of PWS | No paternal SNRPN expression |
| Imprinting center deletion | Regulatory deletion | ~5% of PWS | Aberrant methylation and silencing of paternal SNRPN |
| SNRPN point mutations (rare) | Missense/nonsense | <1% | Disrupted SmN protein function; splicing defects |
Mutation functional classification
Loss of Function (LOF)
Paternal deletions or imprinting defects cause complete loss of SNRPN expression, leading to Prader-Willi syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported for SNRPN.
Dominant Negative (DN)
No dominant-negative mutations reported for SNRPN.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Spliceosome (KEGG hsa03040)
• mRNA Splicing - Major Pathway (Reactome R-HSA-72163)
Protein Summary
The SNRPN protein (SmN) is a 240-amino-acid component of the Sm core domain of spliceosomal snRNPs. It contains an Sm motif that mediates RNA binding and protein-protein interactions. SmN is essential for pre-mRNA splicing and is part of the heptameric Sm ring (B/B', D1, D2, D3, E, F, G) that assembles on U1, U2, U4, and U5 snRNAs. The protein is highly conserved in eukaryotes and is expressed predominantly in brain and testis due to paternal imprinting.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNRPN Knockout HEK293 Cell Line | EDJ-KQ5812 | Human | 6638 | Details Get a Quote |
| SNRPN Knockout HeLa Cell Line | EDJ-KQ27977 | Human | 6638 | Details Get a Quote |
| SNRPN Knockout A-549 Cell Line | EDJ-KQ29236 | Human | 6638 | Details Get a Quote |
| SNRPN Knockout HCT 116 Cell Line | EDJ-KQ71493 | Human | 6638 | Details Get a Quote |
