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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LAMA3
laminin subunit alpha 3
Chromosome 18 · 18q11.2
NCBI Gene: 3909Ensembl: ENSG00000053747HGNC: HGNC:6483UniProt: A0A0A0MSA0
137PubMed Papers
23Diseases
1Drugs
266Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeendodermal cell differentiationextracellular matrixnervous system developmentlaryngo-onycho-cutaneous syndromeJunctional epidermolysis bullosa, Herlitz typejunctional epidermolysis bullosa Herlitz typeLOC syndrome
✦AI Summary

LAMA3 encodes the alpha-3 chain of laminin-332, a critical extracellular matrix protein with multifaceted biological roles. Structurally, LAMA3 functions as a basement membrane component that mediates cell adhesion through integrin α3β1 in focal adhesions and integrin α6β4 in hemidesmosomes, while also promoting signal transduction via tyrosine phosphorylation 1. During development, LAMA3 is ubiquitously expressed in epithelial tissues and plays essential roles in organoid formation, where epithelial cells secrete laminin-rich basement membranes containing LAMA3 that function as de novo stem cell niches 2. LAMA3 is also critical for glomerulogenesis, with targeted disruption causing maturation arrest of glomerular endothelial cells and preventing mesangial cell migration 3. Clinically, LAMA3 mutations cause junctional epidermolysis bullosa, a severe blistering disorder, and a missense mutation (R217C) is associated with androgenetic alopecia in mice 4. In cancer biology, LAMA3 expression varies by tumor type: elevated LAMA3 correlates with poor prognosis and enhanced proliferation, migration, and invasion in pancreatic adenocarcinoma, gastric adenocarcinoma, and esophageal squamous cell carcinoma 567. LAMA3's pro-tumoral effects involve ECM-receptor interactions and PI3K-Akt signaling pathways, positioning it as a potential biomarker and therapeutic target across multiple malignancies.

Sources cited
1
LAMA3 is ubiquitously expressed in epithelial tissues and epithelial cells secrete laminin-rich basement membranes containing LAMA3 that function as stem cell niches
PMID: 40680738
2
LAMA3 (laminin-332) is a crucial component of the epidermis's basement membrane with potential interactions with HPV
PMID: 37522698
3
LAMA3-encoded laminin-332 is present in internal basal lamina and promotes cell adhesion via hemidesmosomes in epithelial-implant interfaces
PMID: 29096376
4
High LAMA3 expression is associated with poor survival in pancreatic adenocarcinoma and involves ECM and signaling pathways
PMID: 34134622
5
LAMA3 is critical for glomerulogenesis; its absence prevents glomerular endothelial cell differentiation and mesangial cell migration
PMID: 16850021
6
LAMA3 overexpression enhances proliferation, migration, and invasion in esophageal squamous cell carcinoma; knockdown suppresses these processes
PMID: 40628792
7
A missense mutation in LAMA3 (R217C) causes androgenetic alopecia in mice with increased sebaceous glands and missing hair follicle structures
PMID: 38012251
8
LAMA3 expression varies across cancer types with prognostic significance; high expression correlates with poor outcomes in PAAD and STAD, while low expression associates with adverse outcomes in BRCA
PMID: 40092111
Disease Associationsⓘ23
laryngo-onycho-cutaneous syndromeOpen Targets
0.77Strong
Junctional epidermolysis bullosa, Herlitz typeOpen Targets
0.73Strong
junctional epidermolysis bullosa Herlitz typeOpen Targets
0.72Strong
LOC syndromeOpen Targets
0.70Moderate
epidermolysis bullosa, junctional 2B, severeOpen Targets
0.68Moderate
junctional epidermolysis bullosa, non-Herlitz typeOpen Targets
0.67Moderate
Generalized junctional epidermolysis bullosa, non-Herlitz typeOpen Targets
0.64Moderate
epidermolysis bullosa, junctional 2A, intermediateOpen Targets
0.64Moderate
junctional epidermolysis bullosaOpen Targets
0.63Moderate
generalized junctional epidermolysis bullosa non-Herlitz typeOpen Targets
0.62Moderate
epidermolysis bullosa, junctional 4, intermediateOpen Targets
0.53Moderate
eye diseaseOpen Targets
0.44Moderate
benign colon neoplasmOpen Targets
0.37Weak
Abnormal retinal morphologyOpen Targets
0.37Weak
bacterial diseaseOpen Targets
0.37Weak
iron metabolism diseaseOpen Targets
0.28Weak
macular holesOpen Targets
0.26Weak
ovarian neoplasmOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
idiopathic pulmonary fibrosisOpen Targets
0.11Weak
Epidermolysis bullosa, junctional 2A, intermediateUniProt
Epidermolysis bullosa, junctional 2B, severeUniProt
Epidermolysis bullosa, junctional 2C, laryngoonychocutaneousUniProt
Pathogenic Variants266
NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Epidermolysis bullosa, junctional 2B, severe|Junctional epidermolysis bullosa
★★☆☆2026→ Residue 2735
NM_198129.4(LAMA3):c.6319-1G>ALikely pathogenic
Laryngo-onycho-cutaneous syndrome|Epidermolysis bullosa, junctional 2B, severe|Epidermolysis bullosa, junctional 2A, intermediate|not provided
★★☆☆2026
NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Epidermolysis bullosa, junctional 2B, severe|Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe
★★☆☆2026→ Residue 2270
NM_198129.4(LAMA3):c.6567del (p.Glu2190fs)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Junctional epidermolysis bullosa
★★☆☆2025→ Residue 2190
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)Pathogenic
not provided|Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type;Laryngo-onycho-cutaneous syndrome|Junctional epidermolysis bullosa, non-Herlitz type|Junctional epidermolysis bullosa gravis of Herlitz|LAMA3-related disorder
★★☆☆2025→ Residue 2981
NM_198129.4(LAMA3):c.5725-1G>ALikely pathogenic
not provided|Junctional epidermolysis bullosa
★★☆☆2025
NM_198129.4(LAMA3):c.1273+51C>TPathogenic
LAMA3-related disorder|Epidermolysis bullosa, junctional 2A, intermediate|Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe;Laryngo-onycho-cutaneous syndrome
★★☆☆2025
NM_198129.4(LAMA3):c.8043G>A (p.Ser2681=)Pathogenic
Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe|not provided
★★☆☆2025→ Residue 2681
NM_198129.4(LAMA3):c.6473+2T>ALikely pathogenic
not provided|Junctional epidermolysis bullosa
★★☆☆2025
NM_198129.4(LAMA3):c.7120C>T (p.Arg2374Ter)Pathogenic
not provided
★★☆☆2025→ Residue 2374
NM_000227.6(LAMA3):c.108del (p.Leu38fs)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Epidermolysis bullosa, junctional 2B, severe
★★☆☆2024→ Residue 38
NM_198129.4(LAMA3):c.5119C>T (p.Gln1707Ter)Pathogenic
Epidermolysis bullosa, junctional 2B, severe|not provided
★★☆☆2024→ Residue 1707
NM_000227.6(LAMA3):c.151dup (p.Val51fs)Pathogenic
Laryngo-onycho-cutaneous syndrome|Junctional epidermolysis bullosa gravis of Herlitz|not provided
★★☆☆2024→ Residue 51
NM_198129.4(LAMA3):c.8705del (p.Gln2902fs)Pathogenic
not provided|Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe;Laryngo-onycho-cutaneous syndrome
★★☆☆2024→ Residue 2902
NM_198129.4(LAMA3):c.5112+1G>ALikely pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Epidermolysis bullosa, junctional 2A, intermediate|Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe
★★☆☆2024
NM_198129.4(LAMA3):c.9642G>T (p.Lys3214Asn)Pathogenic
not provided|Junctional epidermolysis bullosa|Melanoma
★★☆☆2024→ Residue 3214
NM_198129.4(LAMA3):c.5049del (p.Cys1684fs)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe;Laryngo-onycho-cutaneous syndrome
★★☆☆2024→ Residue 1684
NM_198129.4(LAMA3):c.8436+1G>APathogenic
not provided|LAMA3-related disorder|Epidermolysis bullosa, junctional 2B, severe
★★☆☆2024
NM_198129.4(LAMA3):c.7204C>T (p.Arg2402Ter)Pathogenic
Junctional epidermolysis bullosa|not provided|Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe
★★☆☆2024→ Residue 2402
NM_198129.4(LAMA3):c.8599C>T (p.Gln2867Ter)Pathogenic
not provided|Epidermolysis bullosa, junctional 2A, intermediate|Epidermolysis bullosa, junctional 2A, intermediate;Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2B, severe
★★☆☆2024→ Residue 2867
View on ClinVar ↗
Drug Targets1
OCRIPLASMINApproved
Laminin hydrolytic enzyme
Related Genes
LAMC2Protein interaction97%PTK2Protein interaction96%DSTProtein interaction95%COL17A1Protein interaction95%ITGA6Protein interaction95%ITGA2Protein interaction95%
Tissue Expression6 tissues
Lung
100%
Ovary
46%
Heart
27%
Liver
8%
Brain
5%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
LAMA3LAMC2PTK2DSTCOL17A1ITGA6ITGA2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q16787
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.73LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.59–0.73]
RankingsWhere LAMA3 stands among ~20K protein-coding genes
  • #3,379of 20,598
    Most Researched137 · top quartile
  • #912of 1,025
    FDA-Approved Drug Targets1
  • #240of 5,498
    Most Pathogenic Variants266 · top 5%
  • #5,719of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedLAMA3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
An extracellular matrix niche secreted by epithelial cells drives intestinal organoid formation.
PMID: 40680738
Dev Cell · 2025
1.00
2
Sequence analysis of exons 30 and 31 of LAMA3 gene variants and its association with human papillomavirus infection predisposition: no evidence was found.
PMID: 37522698
Eur Rev Med Pharmacol Sci · 2023
0.90
3
Substrate-mediated gene transduction of LAMA3 for promoting biological sealing between titanium surface and gingival epithelium.
PMID: 29096376
Colloids Surf B Biointerfaces · 2018
0.80
4
High expression of LAMA3/AC245041.2 gene pair associated with KRAS mutation and poor survival in pancreatic adenocarcinoma: a comprehensive TCGA analysis.
PMID: 34134622
Mol Med · 2021
0.70
5
Of LAMA3 and LAMB3: A novel gene therapy for epidermolysis bullosa.
PMID: 38631349
Mol Ther · 2024
0.60