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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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LRRC18
leucine rich repeat containing 18
Chromosome 10 · 10q11.23
NCBI Gene: 474354Ensembl: ENSG00000165383.12HGNC: HGNC:23199UniProt: Q8N456
14PubMed Papers
18Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingintracellular signal transductioncytoplasmsystemic lupus erythematosusneurodegenerative diseaseadolescent idiopathic scoliosisAbnormality of the skeletal system
✦AI Summary

LRRC18 (leucine-rich repeat containing 18) is a protein involved in immune regulation and disease susceptibility across multiple conditions. The gene functions through protein binding and intracellular signal transduction mechanisms 1. LRRC18 has been identified as a genetic risk locus for systemic lupus erythematosus (SLE) in multiple populations. Genome-wide association studies in Asian populations confirmed LRRC18-WDFY4 as an SLE risk locus, with associations replicated in Caucasian cohorts 1. The nearby WDFY4 gene in this locus is significantly downregulated in SLE patients, regulated through transcription factor Yinyang1 binding 2. LRRC18 has additionally been implicated in inflammatory bowel disease (IBD), particularly ulcerative colitis, as identified through trans-ancestry genome-wide association studies 3. The gene was identified as a key diagnostic marker for coronary artery disease (CAD), showing strong diagnostic efficiency (AUC 0.92-0.96) and correlating with immune cell infiltration patterns including macrophages and T cells 4. LRRC18 expression is significantly altered during high-altitude exposure and has been identified as a potential hub gene for high-altitude polycythemia development 5. While UniProt annotations suggest involvement in spermatogenesis regulation, the provided literature does not support this function.

Sources cited
1
LRRC18-WDFY4 locus is associated with SLE susceptibility in both Asian and Caucasian populations
PMID: 23249952
2
WDFY4 in the LRRC18-WDFY4 locus is downregulated in SLE patients through Yinyang1 transcription factor regulation
PMID: 22972472
3
LRRC18-WDFY4 locus is associated with ulcerative colitis as a novel IBD risk locus in trans-ancestry analysis
PMID: 36308435
4
LRRC18 is identified as a key diagnostic marker for coronary artery disease with high diagnostic efficiency and correlation with immune cell infiltration
PMID: 33686958
5
LRRC18 is significantly altered during high-altitude exposure and identified as a hub gene for high-altitude polycythemia development
PMID: 35885976
6
LRRC18 was sequenced as a candidate gene in the USH1K locus mapping study but no pathogenic mutations were identified
PMID: 22718019
Disease Associationsⓘ18
systemic lupus erythematosusOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.31Weak
adolescent idiopathic scoliosisOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
chronic venous hypertensionOpen Targets
0.07Suggestive
retinopathyOpen Targets
0.05Suggestive
pathological myopiaOpen Targets
0.05Suggestive
rheumatoid arthritisOpen Targets
0.04Suggestive
frozen shoulderOpen Targets
0.04Suggestive
Non-Neoplastic Bile Duct DisorderOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
liver diseaseOpen Targets
0.03Suggestive
primary biliary cirrhosisOpen Targets
0.03Suggestive
central nervous system cancerOpen Targets
0.02Suggestive
Neurodevelopmental delayOpen Targets
0.00Suggestive
Neurodevelopmental disorderOpen Targets
0.00Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
coronary artery diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CAPSShared pathway100%MTCP1Shared pathway100%PPP1R1AShared pathway100%TCL1AShared pathway100%SH3BP5Shared pathway100%TCL1BShared pathway100%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
30%
Brain
6%
Ovary
6%
Heart
3%
Liver
0%
Gene Interaction Network
Click a node to explore
LRRC18CAPSMTCP1PPP1R1ATCL1ASH3BP5TCL1B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8N456
View on AlphaFold ↗
RankingsWhere LRRC18 stands among ~20K protein-coding genes
  • #15,911of 20,598
    Most Researched14
Genes detectedLRRC18
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations.
PMID: 23249952
Eur J Hum Genet · 2013
1.00
2
Microarray-Based Prediction of Polycythemia after Exposure to High Altitudes.
PMID: 35885976
Genes (Basel) · 2022
0.83
3
An intronic variant associated with systemic lupus erythematosus changes the binding affinity of Yinyang1 to downregulate WDFY4.
PMID: 22972472
Genes Immun · 2012
0.67
4
Trans-ancestry, Bayesian meta-analysis discovers 20 novel risk loci for inflammatory bowel disease in an African American, East Asian and European cohort.
PMID: 36308435
Hum Mol Genet · 2023
0.50
5
Identification of key genes in coronary artery disease: an integrative approach based on weighted gene co-expression network analysis and their correlation with immune infiltration.
PMID: 33686958
Aging (Albany NY) · 2021
0.33