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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PRRG3
proline rich and Gla domain 3
Chromosome X Β· Xq28
NCBI Gene: 79057Ensembl: ENSG00000130032.17HGNC: HGNC:30798UniProt: A0A6I8PL69
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
blood coagulationproteolysisserine-type endopeptidase activityGO:0005615neurodegenerative diseasecarcinoma of liver and intrahepatic biliary tractTetralogy of Fallotpsoriasis
✦AI Summary

Based on limited published evidence, PRRG3 (proline rich and Gla domain 3) is an X-linked gene with predicted involvement in blood coagulation and proteolysis based on GO annotations indicating serine-type endopeptidase activity and membrane localization. PRRG3 was identified as a candidate gene in the MYP1 locus region (Xq28) associated with X-linked nonsyndromic high myopia, though sequencing did not reveal causative mutations 1. Additionally, PRRG3 was identified as one of 14 genes in a multigene signature predictive of metastatic outcome in triple-negative breast cancer 2. However, specific molecular function and tissue-specific roles remain largely uncharacterized.

Sources cited
1
PRRG3 was sequenced as a candidate gene in the MYP1 region mapped to Xq28 for X-linked nonsyndromic high myopia, though no causative mutations were identified
PMID: 21060050
2
PRRG3 was identified as one of 14 prognostic genes in a multigene signature for predicting metastatic outcome in early-stage triple-negative breast cancer
PMID: 20946665
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.36Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.01Suggestive
Tetralogy of FallotOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
esophageal squamous cell carcinomaOpen Targets
0.01Suggestive
atopic eczemaOpen Targets
0.01Suggestive
invasive breast ductal carcinomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
acneOpen Targets
0.00Suggestive
endometrial carcinomaOpen Targets
0.00Suggestive
Pick diseaseOpen Targets
0.00Suggestive
vulvar intraepithelial neoplasiaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
cutaneous lupus erythematosusOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PRRG1Shared pathway100%PRRG2Shared pathway100%PROZShared pathway100%PRRG4Shared pathway100%PRSS56Shared pathway67%F9Shared pathway67%
Tissue Expression6 tissues
Brain
100%
Ovary
57%
Heart
49%
Lung
6%
Bone Marrow
1%
Liver
1%
Gene Interaction Network
Click a node to explore
PRRG3PRRG1PRRG2PROZPRRG4PRSS56F9
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9BZD7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.33 [0.94–1.92]
RankingsWhere PRRG3 stands among ~20K protein-coding genes
  • #17,421of 20,598
    Most Researched9
  • #17,385of 17,882
    Most Constrained (LOEUF)1.92
Genes detectedPRRG3
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Nonsyndromic high myopia in a Chinese family mapped to MYP1: linkage confirmation and phenotypic characterization.
PMID: 21060050
Arch Ophthalmol Β· 2010
1.00
2
A multigene predictor of metastatic outcome in early stage hormone receptor-negative and triple-negative breast cancer.
PMID: 20946665
Breast Cancer Res Β· 2010
0.50