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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LRRC30
leucine rich repeat containing 30
Chromosome 18 Β· 18p11.23
NCBI Gene: 339291Ensembl: ENSG00000206422.3HGNC: HGNC:30219UniProt: A6NM36
2PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
intracellular signal transductionbone remodeling diseasePhenotypic abnormalityenteritisbenign neoplasm of pituitary gland
✦AI Summary

Based on limited published evidence, LRRC30 is a leucine-rich repeat containing protein annotated for involvement in intracellular signal transduction. LRRC30 is preferentially expressed in skeletal muscle tissue with potential tissue-specific epigenetic regulation 1. The gene has been identified as a candidate prognostic biomarker in ovarian serous cystadenocarcinoma, suggesting dysregulation in cancer pathways 2. However, detailed molecular functions and mechanisms remain largely undescribed in the literature.

Sources cited
1
LRRC30 is preferentially expressed in skeletal muscle with tissue-specific epigenetic regulation patterns and little previous functional characterization
PMID: 34968235
2
LRRC30 identified as a candidate prognostic biomarker for predicting survival outcomes in ovarian serous cystadenocarcinoma
PMID: 31646556
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
bone remodeling diseaseOpen Targets
0.26Weak
Phenotypic abnormalityOpen Targets
0.26Weak
enteritisOpen Targets
0.19Weak
benign neoplasm of pituitary glandOpen Targets
0.18Weak
tibia fractureOpen Targets
0.05Suggestive
Hepatic veno-occlusive disease - immunodeficiencyOpen Targets
0.05Suggestive
hepatic veno-occlusive disease-immunodeficiency syndromeOpen Targets
0.05Suggestive
gastric cancerOpen Targets
0.04Suggestive
immunodeficiency 75Open Targets
0.03Suggestive
Peyronie diseaseOpen Targets
0.03Suggestive
Abdominal Aortic AneurysmOpen Targets
0.03Suggestive
aortic aneurysmOpen Targets
0.03Suggestive
bronchial diseaseOpen Targets
0.02Suggestive
lymphoid leukemiaOpen Targets
0.02Suggestive
diaphragm diseaseOpen Targets
0.02Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
immune system diseaseOpen Targets
0.02Suggestive
ventricular fibrillationOpen Targets
0.02Suggestive
DNA methylationOpen Targets
0.02Suggestive
smoking initiationOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CAPSShared pathway100%MTCP1Shared pathway100%PPP1R1AShared pathway100%TCL1AShared pathway100%SH3BP5Shared pathway100%TCL1BShared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
LRRC30CAPSMTCP1PPP1R1ATCL1ASH3BP5TCL1B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt A6NM36
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.40–1.11]
RankingsWhere LRRC30 stands among ~20K protein-coding genes
  • #19,158of 20,598
    Most Researched2
  • #11,322of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedLRRC30
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
A comprehensive understanding of ovarian carcinoma survival prognosis by novel biomarkers.
PMID: 31646556
Eur Rev Med Pharmacol Sci Β· 2019
1.00
2
Epigenetics of Skeletal Muscle-Associated Genes in the
PMID: 34968235
Epigenomes Β· 2020
0.50