Entity Details

Primary name LAMB2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP55268
EntryNameLAMB2_HUMAN
FullNameLaminin subunit beta-2
TaxID9606
Evidenceevidence at protein level
Length1798
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesLAMB2

GO terms

Show/Hide Table
GOName
GO:0005178 integrin binding
GO:0005198 structural molecule activity
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0005608 laminin-3 complex
GO:0005788 endoplasmic reticulum lumen
GO:0007411 axon guidance
GO:0007528 neuromuscular junction development
GO:0007601 visual perception
GO:0009887 animal organ morphogenesis
GO:0009888 tissue development
GO:0014002 astrocyte development
GO:0014044 Schwann cell development
GO:0016477 cell migration
GO:0030198 extracellular matrix organization
GO:0031594 neuromuscular junction
GO:0034446 substrate adhesion-dependent cell spreading
GO:0043083 synaptic cleft
GO:0043256 laminin complex
GO:0043260 laminin-11 complex
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0048677 axon extension involved in regeneration
GO:0060041 retina development in camera-type eye
GO:0062023 collagen-containing extracellular matrix
GO:0070062 extracellular exosome
GO:0070831 basement membrane assembly
GO:0072249 metanephric glomerular visceral epithelial cell development
GO:0072274 metanephric glomerular basement membrane development

Subcellular Location

Show/Hide Table
Subcellular Location
Secreted

Domains

Show/Hide Table
DomainNameCategoryType
IPR000742 EGF-like domainDomainDomain
IPR002049 Laminin EGF domainDomainDomain
IPR008211 Laminin, N-terminalDomainDomain
IPR013015 Laminin IV type BDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
609049 OMIMPierson syndrome (PIERSS)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. The disease is caused by variants affecting the gene represented in this entry.
614199 OMIMNephrotic syndrome 5 with or without ocular abnormalities (NPHS5)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. The disease is caused by variants affecting the gene represented in this entry.