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MGP001794

UniProt Annotations

Entry Information

Gene Name	laminin, beta 2 (laminin S)
Protein Entry	LAMB2_HUMAN
UniProt ID	P55268
Species	Human

Comments

Comment type	Description
Disease	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:0000269\|PubMed:21236492}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	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:0000269\|PubMed:15367484, ECO:0000269\|PubMed:16912710}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	Domains VI and IV are globular.
Domain	The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
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.
Similarity	Contains 13 laminin EGF-like domains. {ECO:0000255\|PROSITE-ProRule:PRU00460}.
Similarity	Contains 1 laminin IV type B domain. {ECO:0000255\|PROSITE-ProRule:PRU00462}.
Similarity	Contains 1 laminin N-terminal domain. {ECO:0000255\|PROSITE-ProRule:PRU00466}.
Subcellular Location	Secreted, extracellular space, extracellular matrix, basement membrane. Note=S-laminin is concentrated in the synaptic cleft of the neuromuscular junction.
Subunit	Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-2 is a subunit of laminin-3 (laminin-121 or S-laminin), laminin-4 (laminin-221 or S-merosin), laminin-7 (laminin-321 or KS-laminin), laminin-9 (laminin-421), laminin-11 (laminin-521), laminin-14 (laminin-423) and laminin-15 (laminin-523).