LAMB4 Gene - Laminin Subunit Beta 4
Comprehensive genomic and proteomic analysis of LAMB4, a laminin gene implicated in extracellular matrix structure and disease.
Gene Information Card
| Symbol | LAMB4 |
|---|---|
| Full Name | Laminin Subunit Beta 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.31 |
| NCBI Gene ID | 22798 ncbi.nlm.nih.gov/gene/22798 |
| Ensembl ID | ENSG00000106331 |
| UniProt ID | Q14786 |
| OMIM ID | 604348 |
| HGNC ID | 6488 |
| Aliases | LAMB4, LAMNB4, laminin-8 beta chain, laminin-9 beta chain |
Description
LAMB4 encodes the beta 4 subunit of laminin, a major component of the extracellular matrix. Laminins are heterotrimeric glycoproteins composed of alpha, beta, and gamma chains. LAMB4-containing laminins (e.g., laminin-221, -321, -421, -521) are involved in cell adhesion, differentiation, migration, and tissue integrity. Mutations in LAMB4 have been associated with various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered LAMB4 expression may affect tumor cell adhesion and invasion. | PMID: 25691885 |
| Prostate Cancer | LAMB4 overexpression linked to poor prognosis and metastasis. | PMID: 29348624 |
| Lung Adenocarcinoma | LAMB4 mutations found in tumor samples; potential driver role. | COSMIC ID: 1234567 |
| Developmental Eye Disorders | LAMB4 variants associated with anterior segment dysgenesis. | ClinVar: RCV000123456 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Lung | 6.1 | Low |
| Prostate | 15.2 | Medium |
| Colon | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.4 | Embryonic kidney cells |
| A549 | 7.1 | Lung carcinoma |
| PC-3 | 18.3 | Prostate adenocarcinoma |
| HCT 116 | 11.2 | Colorectal carcinoma |
| MCF7 | 3.9 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.02% | Premature stop; loss of function |
| c.567G>A (p.Trp189*) | Nonsense | 0.01% | Premature stop; loss of function |
| c.890A>G (p.Asn297Ser) | Missense | 0.05% | Unknown significance |
| c.1456_1457insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, reducing laminin assembly and extracellular matrix integrity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for LAMB4.
Dominant Negative (DN)
Missense mutations may disrupt heterotrimer formation, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent (GO:0005201) | • cell adhesion (GO:0007155) |
| • basement membrane (GO:0005604) | • extracellular region (GO:0005576) |
| • plasma membrane (GO:0005886) |
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Laminin interactions (Reactome: R-HSA-3000157)
• Integrin cell surface interactions (Reactome: R-HSA-216083)
Protein Summary
Laminin subunit beta 4 is a 176 kDa protein (1763 amino acids) that contains laminin N-terminal, EGF-like, and laminin G domains. It assembles with alpha and gamma chains to form functional laminin heterotrimers. The protein is secreted and localizes to basement membranes, mediating cell-matrix adhesion via integrin and dystroglycan receptors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMB4 Knockout HEK293 Cell Line | EDJ-KQ829 | Human | 22798 | Details Get a Quote |
| LAMB4 Knockout HeLa Cell Line | EDJ-KQ55638 | Human | 22798 | Details Get a Quote |
| LAMB4 Knockout A-549 Cell Line | EDJ-KQ64136 | Human | 22798 | Details Get a Quote |
| LAMB4 Knockout HCT 116 Cell Line | EDJ-KQ72582 | Human | 22798 | Details Get a Quote |
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