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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PRB4
proline rich protein BstNI subfamily 4
Chromosome 12 · 12p13.2
NCBI Gene: 5545Ensembl: ENSG00000230657.8HGNC: HGNC:9340UniProt: E7EXA8
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
extracellular regionsomatoform disorderhypopharyngeal carcinomainfectionpsoriasis
✦AI Summary

PRB4 encodes a basic glycosylated proline-rich protein (gPRP) expressed exclusively in parotid salivary glands 1. The gene is located on chromosome 12.2 as part of a six-gene PRP cluster and spans approximately 4.0 kb with four exons, where exon 3 contains 63-bp tandem repeats encoding the proline-rich domain 2. PRB4 exists in multiple allelic forms with length polymorphisms arising from variable numbers of tandem repeats in exon 3, generated through intragenic unequal crossing over 3. The gene encodes at least two protein products: the Po protein and the glycoprotein II-1, both absent in PRB4M PO- null alleles carrying a splice-site mutation 4. PRB4-encoded proteins undergo extensive post-translational modifications including N- and O-glycosylation, phosphorylation, and proteolytic processing, generating multiple proteoforms 1. The II-1 glycoprotein serves a biological function in bacterial binding, as its absence alters in vitro binding of Streptococcus sanguis to salivary proteins 4. PRB4 proteins function as salivary biomarkers useful for forensic body fluid identification 5. The high polymorphism of PRB4 contributes significantly to inter-individual variability of the human salivary proteome 6.

Sources cited
1
Length polymorphisms in PRB4 and other BstNI-type loci result from tandem repeats in exon 3 generated by unequal crossing over
PMID: 2851479
2
PRB4 gene structure: ~4.0 kb, four exons, exon 3 contains 63-bp tandem repeats encoding proline-rich domain
PMID: 8422499
3
PRB4 encodes Po protein and glycoprotein II-1; null alleles have splice-site mutation; II-1 affects bacterial binding
PMID: 8554050
4
PRB4-encoded proteins expressed only in parotid glands; undergo glycosylation and proteolytic modifications generating multiple proteoforms
PMID: 30064219
5
PRB4 located on chromosome 12p13.2; high allelic polymorphism contributes to salivary proteome heterogeneity
PMID: 26375204
6
PRB4 protein serves as a saliva biomarker for forensic body fluid identification
PMID: 41223295
7
PRB4 locus encodes Po protein and CON proteins as proteolytic products of precursor
PMID: 3220251
Disease Associationsⓘ20
somatoform disorderOpen Targets
0.14Weak
hypopharyngeal carcinomaOpen Targets
0.05Suggestive
infectionOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.02Suggestive
coinfectionOpen Targets
0.02Suggestive
Charcot-Marie-Tooth disease type 1BOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
dental cariesOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
Dejerine-Sottas syndromeOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
malariaOpen Targets
0.01Suggestive
rhabdomyosarcomaOpen Targets
0.01Suggestive
systemic lupus erythematosusOpen Targets
0.00Suggestive
neurodegenerative diseaseOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
bacterial diseaseOpen Targets
0.00Suggestive
glioblastomaOpen Targets
0.00Suggestive
polydactylyOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PRH1Protein interaction92%PRH2Protein interaction92%C4BPAProtein interaction75%PRB1Protein interaction61%PRB3Protein interaction61%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
21%
Heart
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
PRB4PRH1PRH2C4BPAPRB1PRB3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt E7EXA8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.50 [0.97–1.93]
RankingsWhere PRB4 stands among ~20K protein-coding genes
  • #13,493of 20,598
    Most Researched23
  • #17,454of 17,882
    Most Constrained (LOEUF)1.93
Genes detectedPRB4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Length polymorphisms in human proline-rich protein genes generated by intragenic unequal crossing over.
PMID: 2851479
Genetics · 1988
1.00
2
PRB1, PRB2, and PRB4 coded polymorphisms among human salivary concanavalin-A binding, II-1, and Po proline-rich proteins.
PMID: 8554050
Am J Hum Genet · 1996
0.90
3
The structure and evolution of the human salivary proline-rich protein gene family.
PMID: 8422499
Mamm Genome · 1993
0.80
4
Extensive Characterization of the Human Salivary Basic Proline-Rich Protein Family by Top-Down Mass Spectrometry.
PMID: 30064219
J Proteome Res · 2018
0.70
5
The intriguing heterogeneity of human salivary proline-rich proteins: Short title: Salivary proline-rich protein species.
PMID: 26375204
J Proteomics · 2016
0.60