2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
blood coagulationproteolysisserine-type endopeptidase activityGO:0005615neurodegenerative diseasecarcinoma of liver and intrahepatic biliary tractTetralogy of Fallotpsoriasis
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.
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: 210600502
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: 20946665β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
carcinoma of liver and intrahepatic biliary tractOpen Targets
Tetralogy of FallotOpen Targets
glioblastoma multiformeOpen Targets
esophageal squamous cell carcinomaOpen Targets
atopic eczemaOpen Targets
invasive breast ductal carcinomaOpen Targets
endometrial carcinomaOpen Targets
vulvar intraepithelial neoplasiaOpen Targets
hepatocellular carcinomaOpen Targets
cutaneous lupus erythematosusOpen Targets
prostate cancerOpen Targets
Hereditary breast cancerOpen Targets
hereditary breast carcinomaOpen Targets
thyroid cancer, nonmedullary, 1Open Targets
No pathogenic variants reported on ClinVar for this gene.