LAMB2 Chromosome 3
Laminin subunit beta 2
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What This Gene Does
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Laminin subunits
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000172037
Associated Conditions (16)
Corticosteroids response
Lung cancer
Cervical cancer
Familial cancer of breast
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Acute myeloid leukemia
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related disorder
Inborn genetic diseases
Focal segmental glomerulosclerosis
Atypical hemolytic-uremic syndrome
Kidney disorder
Nephrotic syndrome
Congenital myasthenic syndrome
Key Variants
RS138285969
drug response
Corticosteroids response, Lung cancer, Cervical cancer
Drug Response
RS112933248
Conflicting classifications of pathogenicity
LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related disorder
Health Risk
RS117575041
Conflicting classifications of pathogenicity
LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
Health Risk
RS1268541922
Conflicting classifications of pathogenicity
Inborn genetic diseases, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
Health Risk
RS13082063
Conflicting classifications of pathogenicity
Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Focal segmental glomerulosclerosis
Health Risk
RS1327659310
Conflicting classifications of pathogenicity
LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, Inborn genetic diseases
Health Risk
RS1378409559
Conflicting classifications of pathogenicity
Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
Health Risk
RS138230622
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
Health Risk
RS138540017
Conflicting classifications of pathogenicity
Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
Health Risk
RS138816491
Conflicting classifications of pathogenicity
Inborn genetic diseases, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
Health Risk
RS139511264
Conflicting classifications of pathogenicity
Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related disorder
Health Risk
RS140371771
Conflicting classifications of pathogenicity
LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
Health Risk
All Variants (166)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2472541995 | Health Risk | Likely pathogenic | — |
| RS2472550610 | Health Risk | Likely pathogenic | LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS745926869 | Health Risk | Likely pathogenic | LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS746230397 | Health Risk | Likely pathogenic | LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS747602505 | Health Risk | Likely pathogenic | Pierson syndrome, Pierson syndrome |
| RS755787013 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS757251877 | Health Risk | Likely pathogenic | LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS761689101 | Health Risk | Likely pathogenic | — |
| RS776905329 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS786205562 | Health Risk | Likely pathogenic | — |
| RS786205643 | Health Risk | Likely pathogenic | — |
| RS888830612 | Health Risk | Likely pathogenic | Pierson syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS1170845795 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS1180200867 | Health Risk | Pathogenic | Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome |
| RS1218889239 | Health Risk | Pathogenic | Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Congenital myasthenic syndrome |
| RS121912489 | Health Risk | Pathogenic | Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome |
| RS121912490 | Health Risk | Pathogenic | Pierson syndrome, Pierson syndrome |
| RS121912492 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS1357326383 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS1367444910 | Health Risk | Pathogenic | Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome |
| RS1374167547 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS1437058719 | Health Risk | Pathogenic | — |
| RS1553776921 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS1560063136 | Health Risk | Pathogenic | Pierson syndrome, Pierson syndrome |
| RS1560066873 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS1560072794 | Health Risk | Pathogenic | Pierson syndrome, Pierson syndrome |
| RS1560075787 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS1560075930 | Health Risk | Pathogenic | Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome |
| RS2045352880 | Health Risk | Pathogenic | Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome |
| RS2045374891 | Health Risk | Pathogenic | Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome |
| RS2045391529 | Health Risk | Pathogenic | Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome |
| RS2107628870 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS2107643346 | Health Risk | Pathogenic | Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome |
| RS2472497493 | Health Risk | Pathogenic | — |
| RS2472534505 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS2472536768 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS2472537403 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS2472538323 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS2472539033 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS2472540557 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS2472542236 | Health Risk | Pathogenic | Pierson syndrome, Pierson syndrome |
| RS2472544213 | Health Risk | Pathogenic | Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome |
| RS2472548507 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS2472555978 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS376983109 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, Nephrotic syndrome |
| RS730880125 | Health Risk | Pathogenic | Pierson syndrome, Pierson syndrome |
| RS750538204 | Health Risk | Pathogenic | Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome |
| RS754137583 | Health Risk | Pathogenic | LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS754597019 | Health Risk | Pathogenic | LAMB2-related disorder, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome |
| RS760355583 | Health Risk | Pathogenic | LAMB2-related disorder, LAMB2-related disorder |