SPRN (Shadow of Prion Protein) Gene
Comprehensive genomic and functional analysis of the SPRN gene, encoding the shadow of prion protein (Sho), a member of the prion protein family involved in neuroprotection and prion disease modulation.
Gene Information Card
| Symbol | SPRN |
|---|---|
| Full Name | shadow of prion protein |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 503582 ncbi.nlm.nih.gov/gene/503582 |
| Ensembl ID | ENSG00000165832 |
| UniProt ID | Q5T0F9 |
| OMIM ID | 610467 |
| HGNC ID | 33825 |
| Aliases | Sho, PrP-like protein, prion-related protein shadow |
Description
The SPRN gene encodes the shadow of prion protein (Sho), a glycosylphosphatidylinositol (GPI)-anchored cell surface protein belonging to the prion protein family. Sho is structurally similar to the prion protein (PrP) and is expressed predominantly in the brain. It has been implicated in neuroprotection, modulation of prion disease pathogenesis, and potential roles in cellular signaling and metal ion homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Creutzfeldt-Jakob disease (CJD) | Modulation of prion protein aggregation and neurotoxicity; Sho may compete with PrP for common ligands or influence prion conversion. | Experimental evidence from transgenic mouse models and in vitro studies (NCBI, OMIM). |
| Gerstmann-Sträussler-Scheinker syndrome (GSS) | Potential modifier of disease progression through interaction with mutant PrP. | Limited evidence from animal models (OMIM). |
| Fatal familial insomnia (FFI) | Possible role in modulating prion strain-specific pathology. | Hypothetical based on prion protein family interactions (OMIM). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 3.2 | Low |
| Heart | 1.8 | Low |
| Liver | 0.5 | Not detected |
| Kidney | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Moderate expression |
| U-87 MG (glioblastoma) | 6.4 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential loss of start codon; predicted to affect translation initiation. |
| c.124G>A (p.Gly42Ser) | missense | <0.01% | Unknown; rare variant with uncertain significance. |
| c.256C>T (p.Arg86Trp) | missense | <0.01% | Unknown; rare variant with uncertain significance. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported; predicted variants may affect protein expression or function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • plasma membrane (GO:0005886) |
| • cell surface (GO:0009986) | • metal ion binding (GO:0046872) |
| • unfolded protein binding (GO:0051082) | • alarmin activity (GO:0097208) |
Pathways
• Prion disease pathway (KEGG: hsa05020)
• GPI-anchor biosynthesis (Reactome: R-HSA-163125)
Protein Summary
The shadow of prion protein (Sho) is a 151-amino acid GPI-anchored glycoprotein with a signal peptide and a conserved prion-like domain. It is expressed on the cell surface and may interact with PrP and other partners to modulate neuroprotective signaling, metal ion homeostasis, and cellular stress responses. Sho is predominantly expressed in the brain and has been studied in the context of prion diseases, where it may influence disease progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPRN Knockout HEK293 Cell Line | EDJ-KQ15495 | Human | 503542 | Details Get a Quote |
| SPRN Knockout HeLa Cell Line | EDJ-KQ60489 | Human | 503542 | Details Get a Quote |
| SPRN Knockout A-549 Cell Line | EDJ-KQ68959 | Human | 503542 | Details Get a Quote |
| SPRN Knockout HCT 116 Cell Line | EDJ-KQ77317 | Human | 503542 | Details Get a Quote |
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