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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PRB3
proline rich protein BstNI subfamily 3
Chromosome 12 Β· 12p13.2
NCBI Gene: 5544Ensembl: ENSG00000197870.14HGNC: HGNC:9339UniProt: A0A0G2JNB4
19PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingdefense response to Gram-negative bacteriumextracellular regionbreast cancerIGA glomerulonephritiscolorectal carcinomaovarian cancer
✦AI Summary

PRB3 encodes a glycosylated proline-rich protein (Gl or PRG) that functions as a salivary receptor for the oral pathogen Fusobacterium nucleatum 1. The protein is a major constituent of human parotid saliva and contains tandemly repetitive sequences in exon 3 that encode the proline-rich domain 2. The gene structure consists of four exons spanning approximately 4.0 kb, with significant allelic variation arising from unequal intragenic crossing over that generates different numbers of tandem repeats 3. PRB3 mutations include both length variants from repeat number variation and null mutations; null alleles result from frameshifting insertions that prevent gene expression 4. Functionally, PRB3 null mutations abolish F. nucleatum binding to saliva in vitro, suggesting the protein plays a role in oral bacterial defense 1. Some PRB3 variants produce disulfide-bonded proteins that modify salivary peroxidase activity, contributing to the intraoral antibacterial system 4. Population studies show certain variants like Gl 8 are population-specific (detected in Ashkenazi Jews at ~0.8% frequency but absent in other populations) 4. While genome-wide association studies have identified numerous Alzheimer's disease risk loci, PRB3 does not appear among established AD-associated genes in current large-scale analyses 5.

Sources cited
1
PRB3 encodes the glycosylated proline-rich protein Gl/PRG and acts as a receptor for Fusobacterium nucleatum; null mutations abolish bacterial interactions
PMID: 8406834
2
PRB3 gene structure: ~4.0 kb with four exons; exon 3 contains tandem repeats encoding proline-rich domain
PMID: 8422499
3
PRB3 exhibits extensive length polymorphisms generated by unequal intragenic crossing over affecting tandem repeat numbers in exon 3
PMID: 2851479
4
PRB3 null mutations result from frameshift-causing insertions; some variants produce disulfide-bonded proteins modifying salivary peroxidase; population-specific distribution
PMID: 2171329
5
Large AD genome-wide association study identified 75 risk loci; PRB3 not among established AD-associated genes
PMID: 35379992
Disease Associationsβ“˜20
breast cancerOpen Targets
0.09Suggestive
IGA glomerulonephritisOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
ovarian cancerOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
acute myeloid leukemiaOpen Targets
0.04Suggestive
psoriasisOpen Targets
0.04Suggestive
Miyoshi myopathyOpen Targets
0.04Suggestive
diffuse large B-cell lymphomaOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.04Suggestive
generalized anxiety disorderOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
gliomaOpen Targets
0.03Suggestive
head and neck squamous cell carcinomaOpen Targets
0.03Suggestive
melanomaOpen Targets
0.03Suggestive
bladder transitional cell carcinomaOpen Targets
0.03Suggestive
cervical cancerOpen Targets
0.03Suggestive
Pathogenic Variants2
NM_001394862.1(PRB3):c.145C>T (p.Arg49Cys)Pathogenic
PRB3S(CYS)
β˜†β˜†β˜†β˜†1990β†’ Residue 49
NM_001394862.1(PRB3):c.848dup (p.His284fs)Pathogenic
PRB3M(NULL)
β˜†β˜†β˜†β˜†1990β†’ Residue 284
View on ClinVar β†—
Related Genes
LYPD8Shared pathway100%C4BPAProtein interaction100%PRB1Protein interaction81%PRB4Protein interaction61%DEFB126Shared pathway50%DEFB119Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
1%
Lung
1%
Brain
1%
Ovary
1%
Heart
0%
Gene Interaction Network
Click a node to explore
PRB3LYPD8C4BPAPRB1PRB4DEFB126DEFB119
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q04118
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.73LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.04 [0.63–1.73]
RankingsWhere PRB3 stands among ~20K protein-coding genes
  • #14,503of 20,598
    Most Researched19
  • #4,560of 5,498
    Most Pathogenic Variants2
  • #16,262of 17,882
    Most Constrained (LOEUF)1.73
Genes detectedPRB3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
New insights into the genetic etiology of Alzheimer's disease and related dementias.
PMID: 35379992
Nat Genet Β· 2022
1.00
2
Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers.
PMID: 36066633
Acta Neuropathol Β· 2022
0.90
3
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
PMID: 34099642
Nat Commun Β· 2021
0.80
4
Alleles at the PRB3 locus coding for a disulfide-bonded human salivary proline-rich glycoprotein (Gl 8) and a null in an Ashkenazi Jew.
PMID: 2171329
Am J Hum Genet Β· 1990
0.70
5
The structure and evolution of the human salivary proline-rich protein gene family.
PMID: 8422499
Mamm Genome Β· 1993
0.60