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GeneE
3 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.
LRCH3
leucine rich repeats and calponin homology domain containing 3
Chromosome 3 Β· 3q29
NCBI Gene: 84859Ensembl: ENSG00000186001.15HGNC: HGNC:28637UniProt: B4DU23
65PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingseptin cytoskeleton organizationcytosolseptin ring organizationAbruptio Placentaerespiratory tract infectious disorderPallister-Hall syndromecancer
✦AI Summary

LRCH3 (leucine rich repeats and calponin homology domain containing 3) is a cytosolic protein involved in regulating the actin cytoskeleton through septin organization. As part of the DISP complex, LRCH3 may regulate the association of septins with actin filaments, thereby influencing septin ring and cytoskeleton organization. Clinically, LRCH3 has been identified as a fusion partner in melanoma pathogenesis. LRCH3::RAF1 fusions were detected in 2 of 40 melanomas (0.6% of a 7119-melanoma cohort) characterized by activating RAF1 structural variants 1. These LRCH3::RAF1 fusion-positive melanomas were triple wild-type for BRAF, NRAS, and NF1, representing 2.1% of triple wild-type melanomas overall, and frequently harbored additional mutations in TERTp (62%) and CDKN2A (60%) 1. In a separate clinical cohort, LRCH3::RAF1 was identified as one of 16 gene fusions detected across 750 melanomas, with potential therapeutic implications 2. Additionally, LRCH3 was identified as a candidate susceptibility gene associated with humoral immune response to Mycobacterium avium subspecies paratuberculosis in dairy cattle, suggesting a potential role in immune regulation 3. These findings indicate LRCH3 functions in cytoskeletal regulation and may contribute to melanoma oncogenesis when dysregulated through kinase fusion events.

Sources cited
1
LRCH3::RAF1 fusions identified in 2/40 melanomas (0.6%), representing 2.1% of triple wild-type melanomas with frequent TERTp and CDKN2A mutations
PMID: 32123303
2
LRCH3::RAF1 detected as one of 16 gene fusions across 750 melanomas with potential therapeutic significance
PMID: 35871080
3
LRCH3 identified as candidate susceptibility gene associated with humoral immune response to Mycobacterium avium subspecies paratuberculosis
PMID: 30852025
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Abruptio PlacentaeOpen Targets
0.14Weak
respiratory tract infectious disorderOpen Targets
0.02Suggestive
Pallister-Hall syndromeOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
meningococcal infectionOpen Targets
0.00Suggestive
pulmonary arterial hypertensionOpen Targets
0.00Suggestive
bacterial diseaseOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
Townes-Brocks syndromeOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
lymphomaOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
papillary renal cell carcinomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
LRCH1Protein interaction98%DOCK8Protein interaction98%DOCK6Protein interaction85%LRCH4Protein interaction80%GOSR1Protein interaction78%DOCK7Protein interaction65%
Tissue Expression6 tissues
Ovary
100%
Heart
71%
Lung
63%
Brain
61%
Liver
54%
Bone Marrow
35%
Gene Interaction Network
Click a node to explore
LRCH3LRCH1DOCK8DOCK6LRCH4GOSR1DOCK7
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q96II8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.87LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.55–0.87]
RankingsWhere LRCH3 stands among ~20K protein-coding genes
  • #7,182of 20,598
    Most Researched65
  • #7,731of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedLRCH3
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Identification of fusions with potential clinical significance in melanoma.
PMID: 35871080
Mod Pathol Β· 2022
1.00
2
Melanomas with activating RAF1 fusions: clinical, histopathologic, and molecular profiles.
PMID: 32123303
Mod Pathol Β· 2020
0.67
3
Candidate genes associated with the heritable humoral response to Mycobacterium avium ssp. paratuberculosis in dairy cows have factors in common with gastrointestinal diseases in humans.
PMID: 30852025
J Dairy Sci Β· 2019
0.33