LAMB2 - laminin subunit beta 2 Gene

Also Known as LAMS; NPHS5; PIERS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3913

About LAMB2

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,121,114-49,133,050 (from NCBI)

This gene has 19 transcripts (splice variants), 198 orthologues, 27 paralogues and is associated with 6 phenotypes. Ubiquitous expression in heart (RPKM 75.8), placenta (RPKM 62.9) and 24 other tissues.

Summary

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]

LAMB2 Products (1)

mRNA	Protein	Name
NM_002292.4	NP_002283.3	laminin subunit beta-2 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in basement membrane	IDA IDA: Inferred from direct assay	2099832	GOA
part of laminin-3 complex	IPI IPI: Inferred from physical interaction	10964500	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LAMB2 Protein Structure

Laminin_N

Laminin_EGF

0
300
600
900
1200
1500
1798 a.a.

Protein Preferred Names	Protein Names
laminin subunit beta-2	S-LAM beta

LAMB2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	LAMB2	P55268	TSR2	Homo sapiens	Q969E8	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Pierson Syndrome	Microcoria-Congenital Nephrotic Syndrome Microcoria-Congenital Nephrosis Syndrome PIERS Microcoria - Congenital Nephrosis Microcoria - Congenital Nephrotic Syndrome PIERSS
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	NPHS5 Nephrotic Syndrome Type 5 Nephrotic Syndrome Type 5, With Or Without Ocular Abnormalities Nephrotic Syndrome 5 With Or Without Ocular Abnormalities Nephrotic Syndrome, Type 5, With/Without Ocular Abnormalities
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Myasthenic Syndrome, Congenital, 5	Endplate Acetylcholinesterase Deficiency Congenital Myasthenic Syndrome 5 CMS5 Ead Engel Congenital Myasthenic Syndrome Myasthenic Syndrome, Congenital, Engel Type Cms Ic Congenital Myasthenic Syndrome Type Ic Congenital Myasthenic Syndrome Type Ic, Formerly Cms1c, Formerly Cms Ic, Formerly Congenital Myasthenic Syndrome Engel Type End Plate Acetylcholinesterase Deficiency Synaptic Congenital Myasthenic Syndromes Cms1c Cmse Congenital Myasthenic Syndrome Type 1c End-Plate Acetylcholinesterase Deficiency Myasthenic Syndrome, Congenital, Type 5
Diffuse Mesangial Sclerosis	Familial Mesangial Sclerosis Mesangial Sclerosis, Diffuse Dms Diffuse Isolated Mesangial Sclerosis Isolated Diffuse Mesangial Sclerosis Nephrotic Syndrome, Early Onset With Diffuse Mesangial Sclerosis
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Focal Segmental Glomerulosclerosis 9	FSGS9 Glomerulosclerosis, Focal Segmental, 9 Glomerulosclerosis, Focal Segmental, Type 9
Focal Segmental Glomerulosclerosis 8	FSGS8 Glomerulosclerosis, Focal Segmental, 8 Glomerulosclerosis, Focal Segmental, Type 8
Focal Segmental Glomerulosclerosis 7	FSGS7 Glomerulosclerosis, Focal Segmental, 7 Glomerulosclerosis, Focal Segmental, Type 7
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Focal Segmental Glomerulosclerosis 6	FSGS6 Glomerulosclerosis, Focal Segmental, 6 Glomerulosclerosis, Segmental, Focal, Type 6
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Barakat Syndrome Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Hdr Syndrome Nephrosis, Nerve Deafness, And Hypoparathyroidism Hypoparathyroidism, Sensorineural Deafness, And Renal Disease HDR HDRS Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome Hypoparathyroidism-Sensorineural Hearing Loss-Renal Disease Syndrome Nephrosis Nephrotic Syndrome
Focal Segmental Glomerulosclerosis 5	FSGS5 Glomerulosclerosis, Focal Segmental, 5 Glomerulosclerosis, Segmental, Focal, Type 5
Focal Segmental Glomerulosclerosis 2	FSGS2 Glomerulosclerosis, Focal Segmental, 2 Glomerulosclerosis, Segmental, Focal, Type 2
Taylor'S Syndrome	Pelvic Congestion Syndrome Congestion-Fibrosis Syndrome Taylor Syndrome
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Familial Nephrotic Syndrome	Congenital Nephrotic Syndrome Nephrosis, Congenital Finnish Congenital Nephrotic Syndrome
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Hypotonia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS07503	LAMB2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07506	LAMC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07716	LMNB2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20440	Lamc1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21625	Lamb2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28143	Lamb2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	LAMB2	VGNC	VGNC:42568
Felis catus	LAMB2	VGNC	VGNC:68007
Mus musculus	LAMB2	MGD	MGI:99916
Macaca mulatta	LAMB2	VGNC	VGNC:74229
Rattus norvegicus	LAMB2	RGD	RGD:2988
Others	LAMB2	NCBI