Homo sapiens Protein: LAMB2 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-34425.6 | ||||||||||||||||||
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 | ENSP00000307156 | ||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000742
Epidermal growth factor-like domain IPR002049 EGF-like, laminin IPR008211 Laminin, N-terminal IPR013015 Laminin IV |
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PFAM |
PF00008
PF00053 PF00055 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00181
SM00180 SM00136 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P55268 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P55268 | ||||||||||||||||||
TrEMBL | F5H520 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 3913 | ||||||||||||||||||
UniGene | Hs.439726 | ||||||||||||||||||
RefSeq | |||||||||||||||||||
HUGO | HGNC:6487 | ||||||||||||||||||
OMIM | 150325 | ||||||||||||||||||
CCDS | CCDS2789 | ||||||||||||||||||
HPRD | 01034 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC135506 CH471055 S77512 X79683 Z68155 Z68156 | ||||||||||||||||||
GenPept | AAB34682 CAA56130 CAA92279 EAW64958 EAW64959 | ||||||||||||||||||