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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LHFPL3
LHFPL tetraspan subfamily member 3
Chromosome 7 · 7q22.2-q22.3
NCBI Gene: 375612Ensembl: ENSG00000187416.13HGNC: HGNC:6589UniProt: A1L384
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsensory perception of soundplasma membranemembranesmoking initiationtype 2 diabetes mellitusjoint diseaseautoimmune thyroid disease
✦AI Summary

LHFPL3 is a tetraspan membrane protein located on chromosome 7 with roles in both normal physiology and disease pathogenesis. In normal tissue, LHFPL3 is associated with sensory perception and plasma membrane localization [NCBI annotation]. The LHFPL3 locus generates multiple functionally distinct transcripts, including protein-coding LHFPL3 and long non-coding RNAs (lncRNAs) LHFPL3-AS1 and LHFPL3-AS2, each with distinct biological roles. In cancer biology, the protein-coding LHFPL3 is upregulated in glioblastoma and promotes tumor progression; miR-218-5p suppresses glioma cell proliferation and invasion by directly targeting LHFPL3 mRNA 1. LHFPL3 also serves as a fusion partner in NTRK-fused gliomas, where NTRK2-LHFPL3 fusion proteins are found in pediatric and adult diffuse gliomas and represent targets for TRK inhibitor therapy 2. The LHFPL3-AS1 lncRNA promotes melanoma tumorigenesis through the miR-181a-5p/BCL2 pathway 3 and via a positive feedback loop with miR-580-3p/STAT3 signaling 4. Conversely, LHFPL3-AS2 lncRNA functions as a tumor suppressor: it is downregulated in non-small cell lung cancer and correlates with improved survival 5, is reduced in lung adenocarcinoma with prognostic significance 6, promotes esophageal squamous cell carcinoma progression under starvation conditions 7, and its reduction in Crohn disease impairs epithelial polarity and proliferation 8.

Sources cited
1
miR-218-5p directly targets LHFPL3 mRNA to inhibit glioma cell proliferation, migration, and epithelial-mesenchymal transitions
PMID: 30314994
2
LHFPL3 is a fusion partner with NTRK2 in pediatric and adult gliomas, representing a target for TRK inhibitor therapy
PMID: 39014476
3
LHFPL3-AS2 lncRNA reduction in Crohn disease impairs epithelial polarity, proliferation, and mitotic spindle formation
PMID: 37993670
4
LHFPL3-AS1 lncRNA promotes melanoma stem cell tumorigenesis through the miR-181a-5p/BCL2 pathway
PMID: 33149126
5
LHFPL3-AS2 lncRNA is decreased in non-small cell lung cancer and suppresses metastasis by regulating TXNIP expression
PMID: 35101541
6
LHFPL3-AS1 lncRNA forms a positive feedback loop with miR-580-3p/STAT3 to promote melanoma malignancy
PMID: 32753471
7
LHFPL3-AS2 is downregulated in lung adenocarcinoma and serves as a prognostic biomarker with protective association
PMID: 35435361
8
LHFPL3-AS2 promotes esophageal squamous cell carcinoma progression through the MK2-hnRNPA0-BMP7 axis under serum starvation
PMID: 41707979
Disease Associationsⓘ20
smoking initiationOpen Targets
0.43Moderate
type 2 diabetes mellitusOpen Targets
0.31Weak
joint diseaseOpen Targets
0.30Weak
autoimmune thyroid diseaseOpen Targets
0.28Weak
placental retentionOpen Targets
0.28Weak
bone remodeling diseaseOpen Targets
0.27Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.27Weak
obesityOpen Targets
0.27Weak
osteitis deformansOpen Targets
0.27Weak
skin diseaseOpen Targets
0.26Weak
Abruptio PlacentaeOpen Targets
0.25Weak
complex regional pain syndromeOpen Targets
0.25Weak
type 1 diabetes mellitusOpen Targets
0.23Weak
insomniaOpen Targets
0.23Weak
metabolic syndromeOpen Targets
0.23Weak
Neck painOpen Targets
0.22Weak
neurodegenerative diseaseOpen Targets
0.20Weak
Hereditary breast cancerOpen Targets
0.12Weak
hereditary breast carcinomaOpen Targets
0.12Weak
melanomaOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF354AShared pathway100%LRIG2Shared pathway100%LRIG1Shared pathway100%CLRN3Shared pathway100%LRIG3Shared pathway100%LOXHD1Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
4%
Bone Marrow
1%
Liver
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
LHFPL3ZNF354ALRIG2LRIG1CLRN3LRIG3LOXHD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86UP9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.55Moderately Constrained
pLIⓘ
0.94Intolerant
Observed/Expected LoF0.26 [0.14–0.55]
RankingsWhere LHFPL3 stands among ~20K protein-coding genes
  • #15,610of 20,598
    Most Researched15
  • #3,503of 17,882
    Most Constrained (LOEUF)0.55 · top quartile
Genes detectedLHFPL3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
MiR-218-5p targets LHFPL3 to regulate proliferation, migration, and epithelial-mesenchymal transitions of human glioma cells.
PMID: 30314994
Biosci Rep · 2019
1.00
2
NTRK-fused central nervous system tumours: clinicopathological and genetic insights and response to TRK inhibitors.
PMID: 39014476
Acta Neuropathol Commun · 2024
0.90
3
Reduced LHFPL3-AS2 lncRNA expression is linked to altered epithelial polarity and proliferation, and to ileal ulceration in Crohn disease.
PMID: 37993670
Sci Rep · 2023
0.80
4
LncRNA LHFPL3-AS1 contributes to tumorigenesis of melanoma stem cells via the miR-181a-5p/BCL2 pathway.
PMID: 33149126
Cell Death Dis · 2020
0.70
5
Long noncoding RNA LHFPL3-AS2 suppresses metastasis of non-small cell lung cancer by interacting with SFPQ to regulate TXNIP expression.
PMID: 35101541
Cancer Lett · 2022
0.60