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Protein Page:
LAMB2

Overview
LAMB2 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. Defects in LAMB2 are the cause of Pierson syndrome (PIERSS); also known as microcoria-congenital nephrotic syndrome. Pierson syndrome is 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. Defects in LAMB2 are the cause of nephrotic syndrome type 5 with or without ocular abnormalities (NPHS5). NPHS5 is a renal disease characterized clinically by proteinuria, 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. Note: This description may include information from UniProtKB.
Protein type: Extracellular matrix; Motility/polarity/chemotaxis; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 3p21.31
Cellular Component: basal lamina; basement membrane; endoplasmic reticulum lumen; extracellular matrix; extracellular region; laminin-3 complex
Molecular Function: integrin binding; structural molecule activity
Biological Process: astrocyte development; axon extension involved in regeneration; axon guidance; cell adhesion; cellular protein metabolic process; extracellular matrix organization; neuromuscular junction development; post-translational protein modification; retina development in camera-type eye; Schwann cell development; visual perception
Disease: Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities; Pierson Syndrome
Reference #:  P55268 (UniProtKB)
Alt. Names/Synonyms: LAMB2; Laminin B1s chain; laminin S; Laminin subunit beta-2; laminin, beta 2 (laminin S); Laminin-11 subunit beta; Laminin-14 subunit beta; Laminin-15 subunit beta; Laminin-3 subunit beta; Laminin-4 subunit beta; Laminin-7 subunit beta; Laminin-9 subunit beta; LAMS; S-LAM beta; S-laminin subunit beta
Gene Symbols: LAMB2
Molecular weight: 195,981 Da
Basal Isoelectric point: 6.07  Predict pI for various phosphorylation states
Select Structure to View Below

LAMB2

Protein Structure Not Found.
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