LAMC2 (Laminin Subunit Gamma 2)
Key component of laminin-332, essential for epithelial adhesion and basement membrane integrity; mutations linked to junctional epidermolysis bullosa and cancer invasion.
Gene Information Card
| Symbol | LAMC2 |
|---|---|
| Full Name | Laminin Subunit Gamma 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 3918 ncbi.nlm.nih.gov/gene/3918 |
| Ensembl ID | ENSG00000158062 |
| UniProt ID | Q13753 |
| OMIM ID | 150292 |
| HGNC ID | 6493 |
| Aliases | LAMB2T, LAMNB2, EBR2A, LAMC2-001 |
Description
LAMC2 encodes the gamma-2 chain of laminin-332 (formerly laminin-5), a heterotrimeric extracellular matrix protein composed of alpha-3, beta-3, and gamma-2 chains. Laminin-332 is a major component of the basement membrane in epithelial tissues, mediating cell adhesion, migration, and differentiation. Mutations in LAMC2 cause junctional epidermolysis bullosa (JEB), a severe skin blistering disorder. Overexpression of LAMC2 is associated with tumor invasion and metastasis in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Junctional Epidermolysis Bullosa (JEB) | Loss-of-function mutations in LAMC2 disrupt laminin-332 assembly, leading to dermal-epidermal separation and blistering. | ClinVar, OMIM |
| Laryngoonychocutaneous Syndrome (LOC) | Specific LAMC2 mutations impair epithelial adhesion in skin and mucous membranes. | OMIM |
| Cancer (invasion/metastasis) | Overexpression of LAMC2 promotes cell migration and invasion through integrin signaling. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.1 | Low |
| Breast | 4.7 | Low |
| Placenta | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A431 (epidermoid carcinoma) | 15.2 | High expression |
| HaCaT (keratinocyte) | 11.8 | Moderate expression |
| MCF7 (breast cancer) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1903C>T (p.Arg635*) | Nonsense | Rare | Premature stop, loss of function |
| c.628G>A (p.Gly210Arg) | Missense | Rare | Disrupts chain assembly |
| c.1135delC (p.Leu379Cysfs*12) | Frameshift | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most JEB-associated LAMC2 mutations are loss-of-function, leading to truncated or unstable protein.
Gain of Function (GOF)
Not reported for LAMC2; overexpression in cancer is transcriptional, not mutational.
Dominant Negative (DN)
Not reported; JEB is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • extracellular matrix organization |
| • basement membrane assembly | • integrin binding |
| • protein heterodimerization activity |
Pathways
• Laminin interactions (Reactome R-HSA-3000157)
• ECM-receptor interaction (KEGG hsa04512)
• Integrin signaling pathway
Protein Summary
Laminin subunit gamma-2 is a 1193-amino acid protein (precursor) that forms the gamma chain of laminin-332. It contains laminin N-terminal, EGF-like, and laminin G-like domains. The protein is secreted and incorporated into the basement membrane, where it binds integrins α3β1 and α6β4 to anchor epithelial cells. Proteolytic processing of the gamma-2 chain modulates cell adhesion and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMC2 Knockout HEK293 Cell Line | EDJ-KQ831 | Human | 3918 | Details Get a Quote |
| LAMC2 Knockout A-549 Cell Line | EDJ-KQ19603 | Human | 3918 | Details Get a Quote |
| LAMC2 Knockout HCT 116 Cell Line | EDJ-KQ19604 | Human | 3918 | Details Get a Quote |
| LAMC2 Knockout HeLa Cell Line | EDJ-KQ19605 | Human | 3918 | Details Get a Quote |
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