LAMB2 Gene: Laminin Subunit Beta 2
Essential for glomerular basement membrane integrity and neuromuscular junction formation
Gene Information Card
| Symbol | LAMB2 |
|---|---|
| Full Name | Laminin Subunit Beta 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 3913 ncbi.nlm.nih.gov/gene/3913 |
| Ensembl ID | ENSG00000172037 |
| UniProt ID | P55268 |
| OMIM ID | 150325 |
| HGNC ID | 6487 |
| Aliases | LAMS, NPHS5, LAMB2T, LAMB2B |
Description
The LAMB2 gene encodes laminin subunit beta 2, a component of laminin heterotrimers (alpha, beta, gamma chains). Laminin beta 2 is critical for the structural integrity of basement membranes, particularly in the kidney glomerulus (glomerular basement membrane) and at the neuromuscular junction. Mutations in LAMB2 cause Pierson syndrome, characterized by congenital nephrotic syndrome and ocular abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pierson syndrome (congenital nephrotic syndrome with ocular anomalies) | Loss-of-function mutations in LAMB2 disrupt glomerular basement membrane assembly, leading to proteinuria and renal failure. Ocular defects arise from impaired lens capsule and retinal basement membrane integrity. | OMIM #609049; ClinVar; PMID: 15103077 |
| Congenital nephrotic syndrome type 5 (NPHS5) | Biallelic LAMB2 mutations cause isolated renal phenotype without ocular involvement in some cases, due to residual laminin beta 2 function. | OMIM #614199; PMID: 24856380 |
| LAMB2-related neuromuscular junction dysfunction | Laminin beta 2 is essential for synaptic differentiation; mutations can lead to myasthenic syndromes or motor endplate abnormalities. | PMID: 20041221 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 42.3 | High |
| Lung | 18.7 | Medium |
| Placenta | 15.2 | Medium |
| Heart | 12.1 | Medium |
| Skeletal Muscle | 8.5 | Low |
| Brain | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 35.1 | High expression in embryonic kidney cell line |
| A549 | 22.4 | Lung carcinoma cell line |
| HUVEC | 18.9 | Endothelial cells |
| SH-SY5Y | 12.3 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2323C>T (p.Arg775Ter) | Nonsense | Rare | Premature stop; loss of laminin beta 2 function |
| c.497G>A (p.Trp166Ter) | Nonsense | Rare | Truncation; associated with Pierson syndrome |
| c.1555C>T (p.Arg519Cys) | Missense | Rare | Disrupts disulfide bond; reduced protein stability |
| c.1A>G (p.Met1Val) | Start loss | Rare | No translation initiation; complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Most LAMB2 disease-associated mutations are loss-of-function (nonsense, frameshift, splice-site, start-loss) leading to truncated or absent laminin beta 2 protein, causing Pierson syndrome or congenital nephrotic syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported for LAMB2.
Dominant Negative (DN)
No dominant-negative mutations reported; LAMB2 disorders are autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Laminin interactions (REACT_13550)
• Extracellular matrix organization (REACT_118779)
• Integrin cell surface interactions (REACT_13552)
Protein Summary
Laminin subunit beta 2 (UniProt P55268) is a 1798-amino acid protein containing laminin N-terminal, EGF-like, and laminin G domains. It forms heterotrimers with laminin alpha and gamma chains. The protein is secreted and incorporated into basement membranes, where it mediates cell adhesion, differentiation, and filtration barrier function. In kidney, it is essential for podocyte foot process integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMB2 Knockout HEK293 Cell Line | EDJ-KQ827 | Human | 3913 | Details Get a Quote |
| LAMB2 Knockout A-549 Cell Line | EDJ-KQ19595 | Human | 3913 | Details Get a Quote |
| LAMB2 Knockout HCT 116 Cell Line | EDJ-KQ19596 | Human | 3913 | Details Get a Quote |
| LAMB2 Knockout HeLa Cell Line | EDJ-KQ19597 | Human | 3913 | Details Get a Quote |
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