ID:LAMB2_HUMAN DESCRIPTION: RecName: Full=Laminin subunit beta-2; AltName: Full=Laminin B1s chain; AltName: Full=Laminin-11 subunit beta; AltName: Full=Laminin-14 subunit beta; AltName: Full=Laminin-15 subunit beta; AltName: Full=Laminin-3 subunit beta; AltName: Full=Laminin-4 subunit beta; AltName: Full=Laminin-7 subunit beta; AltName: Full=Laminin-9 subunit beta; AltName: Full=S-laminin subunit beta; Short=S-LAM beta; Flags: Precursor; 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. 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). SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. Note=S-laminin is concentrated in the synaptic cleft of the neuromuscular junction. DOMAIN: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure. DOMAIN: Domains VI and IV are globular. DISEASE: Defects in LAMB2 are the cause of Pierson syndrome (PIERSS) [MIM:609049]; 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. DISEASE: Defects in LAMB2 are the cause of nephrotic syndrome type 5 with or without ocular abnormalities (NPHS5) [MIM:614199]. 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. SIMILARITY: Contains 13 laminin EGF-like domains. SIMILARITY: Contains 1 laminin IV type B domain. SIMILARITY: Contains 1 laminin N-terminal domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LAMB2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P55268
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
