LAMB2 - laminin subunit beta 2 Gene

Homo sapiens

Also known as LAMS; NPHS5; PIERS

Gene ID: 3913 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07503	LAMB2 Human Pre-designed siRNA Set A		/	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

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