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GeneE
1 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.
LRRC57
leucine rich repeat containing 57
Chromosome 15 Β· 15q15.2
NCBI Gene: 255252Ensembl: ENSG00000180979.11HGNC: HGNC:26719UniProt: Q8N9N7
31PubMed Papers
15Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomemembraneSjogren syndromebipolar disorderaortic diseasebipolar I disorder
✦AI Summary

Based on limited published evidence, LRRC57 is a leucine-rich repeat-containing protein localized to the extracellular exosome. Its molecular function remains largely uncharacterized. However, genetic variation affecting LRRC57 expression in the developing human fetal brain has been associated with bipolar disorder susceptibility, with increased fetal brain expression linked to genetic risk for this neuropsychiatric condition 1.

Sources cited
1
Increased LRRC57 expression in fetal brain is associated with genetic risk for bipolar disorder
PMID: 30419947
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜15
Sjogren syndromeOpen Targets
0.06Suggestive
bipolar disorderOpen Targets
0.04Suggestive
aortic diseaseOpen Targets
0.03Suggestive
bipolar I disorderOpen Targets
0.03Suggestive
type 1 diabetes mellitusOpen Targets
0.00Suggestive
neurotic disorderOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen 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
HINFPProtein interaction78%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
69%
Lung
47%
Ovary
41%
Liver
35%
Heart
30%
Gene Interaction Network
Click a node to explore
LRRC57HINFP
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q8N9N7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.57 [0.36–0.94]
RankingsWhere LRRC57 stands among ~20K protein-coding genes
  • #11,738of 20,598
    Most Researched31
  • #8,821of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedLRRC57
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders.
PMID: 30419947
Genome Biol Β· 2018
1.00