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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SPRN
shadow of prion protein
Chromosome 10 · 10q26.3
NCBI Gene: 503542Ensembl: ENSG00000203772.9HGNC: HGNC:16871UniProt: Q5BIV9
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleic acid bindingnucleusprotein import into nucleusplasma membraneMODYDNA methylationinherited obesityobesity
✦AI Summary

SPRN (shadow of prion protein) is a prion-like gene located on chromosome 10 that encodes the Shadoo (Sho) protein, a structural and functional homolog of the prion protein (PrP) 1. The protein exhibits neuroprotective activity similar to PrP(C) and is hypothesized to act as a biological modulator of normal and abnormal PrP functions 2. SPRN is highly expressed in brain tissue with lower expression in testis and lung 1, and contains an evolutionarily conserved alanine-rich sequence analogous to the amyloidogenic region in PrP 3. Genetically, SPRN functions as a non-PRNP modifier of prion disease susceptibility. SPRN polymorphisms, particularly in the coding sequence and promoter regions, have been associated with variant and sporadic Creutzfeldt-Jakob disease (CJD) in humans and classical scrapie susceptibility in sheep 45. A specific polymorphism causing deletion of two alanines correlates with scrapie susceptibility in ovine populations 4. However, in mice, SPRN shows limited variation across strains and does not substantially influence prion disease incubation time 2, suggesting species-dependent effects. Clinically, SPRN represents an important genetic modifier in prion disease pathogenesis, complementing PRNP-based genetic analysis and potentially informing disease susceptibility screening and mechanistic understanding of transmissible spongiform encephalopathies 5.

Sources cited
1
SPRN polymorphisms associated with human CJD and scrapie susceptibility in sheep; mutations in coding sequence and promoter region affect disease susceptibility
PMID: 19917049
2
SPRN identified as non-PRNP genetic modifier of prion disease susceptibility through GWAS and differential expression studies
PMID: 21528440
3
SPRN encodes Shadoo protein with neuroprotective activity; expressed in adult CNS but limited role in prion disease incubation time in mice
PMID: 19513788
4
SPRN located on chromosome 10q24.3-26.3; codes for 143-amino-acid protein with 74.8% identity to human PRNP; highly expressed in brain
PMID: 17091316
5
SPRN sequences contain evolutionarily conserved alanine-rich region homologous to amyloidogenic domain in PrP; shows polymorphic variation in alanine residues
PMID: 19515828
Disease Associationsⓘ20
MODYOpen Targets
0.07Suggestive
DNA methylationOpen Targets
0.06Suggestive
inherited obesityOpen Targets
0.06Suggestive
obesityOpen Targets
0.06Suggestive
prion diseaseOpen Targets
0.06Suggestive
tooth diseaseOpen Targets
0.06Suggestive
Sertoli Cell-Only SyndromeOpen Targets
0.06Suggestive
metabolic syndromeOpen Targets
0.05Suggestive
metabolic syndrome XOpen Targets
0.05Suggestive
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1Open Targets
0.04Suggestive
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2Open Targets
0.04Suggestive
distal 16p11.2 microdeletion syndromeOpen Targets
0.04Suggestive
scrapieOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
variant Creutzfeldt-Jakob diseaseOpen Targets
0.02Suggestive
asthmaOpen Targets
0.01Suggestive
acquired Creutzfeldt-Jakob diseaseOpen Targets
0.01Suggestive
neuroblastomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Creutzfeldt Jacob DiseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GPN1Shared pathway100%TNPO3Shared pathway100%RANBP6Shared pathway100%GPN3Shared pathway100%FAM53CShared pathway100%TMCO6Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Brain
52%
Ovary
24%
Lung
17%
Bone Marrow
16%
Heart
11%
Gene Interaction Network
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SPRNGPN1TNPO3RANBP6GPN3FAM53CTMCO6
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5BIV9
View on AlphaFold ↗
RankingsWhere SPRN stands among ~20K protein-coding genes
  • #16,006of 20,598
    Most Researched14
Genes detectedSPRN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Marburg virus disease: A summary for clinicians.
PMID: 32758690
Int J Infect Dis · 2020
1.00
2
Identification of polymorphisms in the ovine Shadow of prion protein (SPRN) gene and assessment of their effect on promoter activity and susceptibility for classical scrapie.
PMID: 19917049
Anim Genet · 2010
0.90
3
Genetics of prion disease.
PMID: 21528440
Top Curr Chem · 2011
0.80
4
Nipah virus: a summary for clinicians.
PMID: 40634915
Int J Emerg Med · 2025
0.70
5
Role of the prion protein family in the gonads.
PMID: 25364761
Front Cell Dev Biol · 2014
0.60