InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LAMB2

Summary

InnateDB Protein

IDBP-377052.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LAMB2

Protein Name

laminin, beta 2 (laminin S)

Synonyms

LAMS; NPHS5;

Species

Homo sapiens

Ensembl Protein

ENSP00000388325

InnateDB Gene

IDBG-34423 (LAMB2)

Protein Structure

UniProt Annotation

Function

Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

Subcellular Localization

Secreted, extracellular space, extracellular matrix, basement membrane. Note=S-laminin is concentrated in the synaptic cleft of the neuromuscular junction.

Disease Associations

Pierson syndrome (PIERSS) [MIM:609049]: Characterized by nephrotic syndrome with neonatal onset, diffuse mesangial sclerosis and eye abnormalities with microcoria as the leading clinical feature. Death usually occurs within the first weeks of life. Disease severity depends on the mutation type: nontruncating LAMB2 mutations may display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome. {ECO:0000269PubMed:15367484, ECO:0000269PubMed:16912710}. Note=The disease is caused by mutations affecting the gene represented in this entry.Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS5 is characterized by very early onset of progressive renal failure. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus. {ECO:0000269PubMed:21236492}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005178	integrin binding
GO:0005198	structural molecule activity
GO:0005515	protein binding

Biological Process

GO:0000904	cell morphogenesis involved in differentiation
GO:0007155	cell adhesion
GO:0007411	axon guidance
GO:0007528	neuromuscular junction development
GO:0007601	visual perception
GO:0014002	astrocyte development
GO:0014044	Schwann cell development
GO:0030198	extracellular matrix organization
GO:0031175	neuron projection development
GO:0048677	axon extension involved in regeneration
GO:0050808	synapse organization
GO:0060041	retina development in camera-type eye
GO:0072249	metanephric glomerular visceral epithelial cell development
GO:0072274	metanephric glomerular basement membrane development

Cellular Component

GO:0005576	extracellular region
GO:0005604	basement membrane
GO:0005605	basal lamina
GO:0005608	laminin-3 complex
GO:0031012	extracellular matrix
GO:0043256	laminin complex
GO:0043260	laminin-11 complex
GO:0045202	synapse
GO:0070062	extracellular vesicular exosome