LAMB2 laminin subunit beta 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAMB2provided by HGNC
Official Full Name: laminin subunit beta 2provided by HGNC
Primary source: HGNC:HGNC:6487
See related: Ensembl:ENSG00000172037 MIM:150325; AllianceGenome:HGNC:6487
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LAMS; NPHS5; PIERS
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]
Expression: Ubiquitous expression in heart (RPKM 75.8), placenta (RPKM 62.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (49121114..49133050, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (49149186..49161187, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (49158547..49170483, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients.
Title: Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients.
Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.
Title: Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.
Laminin beta2 variants associated with isolated nephropathy that impact matrix regulation.
Title: Laminin β2 variants associated with isolated nephropathy that impact matrix regulation.
Development of neovascular glaucoma after intraocular surgery in Pierson syndrome.
Title: Development of neovascular glaucoma after intraocular surgery in Pierson syndrome.
Collectively, these data show the pathogenicity of LAMB2-S80R and provide the first evidence of genetic modification of Alport phenotypes by variation in another GBM component. This
Title: Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome.
Age-related modulation of laminin beta1 versus beta2 chain expression changes the functional properties and phenotype of endothelial cells. The dysregulation of the extracellular matrix during vascular aging may contribute to age-associated impairment of organ function and fibrosis.
Title: Switch in Laminin β2 to Laminin β1 Isoforms During Aging Controls Endothelial Cell Functions-Brief Report.
Disruption of LAMA4, LAMA5, and LAMB2 or the laminin-receptor interaction occurs in neuromuscular diseases including Pierson syndrome and Lambert-Eaton myasthenic syndrome (LEMS). (Review)
Title: The role of laminins in the organization and function of neuromuscular junctions.
In conclusion, we reported three Chinese cases with different LAMB2 mutations and different phenotypes, further broadening the range of eye and kidney pathology associated with mutations in LAMB2.
Title: LAMB2 mutation with different phenotypes in China .
Laminins 411 and 421 differentially promote tumor cell migration via alpha6beta1 integrin and MCAM (CD146).
Title: Laminins 411 and 421 differentially promote tumor cell migration via α6β1 integrin and MCAM (CD146).
No pathogenic LAMB2 mutations were found in the cohort of children with steroid-resistant focal segmental glomerulosclerosis.
Title: Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
LAMB2-related infantile-onset nephrotic syndrome MedGen: C3280113 OMIM: 614199 GeneReviews: Not available	Compare labs
Pierson syndrome MedGen: C1836876 OMIM: 609049 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution	PubMed
	tat	HIV-1 Tat enhances adhesion of human U937 monocyte-like cells to proteins of the extracellular matrix, such as collagen IV, laminin, and ECM1	PubMed
	tat	HIV-1 Tat upregulates the expression of extracellular matrix proteins, including the major basement membrane protein laminin	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	ISS Inferred from Sequence or Structural Similarity more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables integrin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of synapse-associated extracellular matrix	IEA Inferred from Electronic Annotation more info
enables structural molecule activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in Schwann cell development	IEA Inferred from Electronic Annotation more info
involved_in astrocyte development	IEA Inferred from Electronic Annotation more info
involved_in axon extension involved in regeneration	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in metanephric glomerular basement membrane development	IEA Inferred from Electronic Annotation more info
involved_in metanephric podocyte development	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular junction development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of integrin-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of muscle cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of basement membrane organization	NAS Non-traceable Author Statement more info	PubMed
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basement membrane	NAS Non-traceable Author Statement more info	PubMed
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
colocalizes_with collagen-containing extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
part_of laminin-11 complex	TAS Traceable Author Statement more info	PubMed
part_of laminin-3 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
part_of protein complex involved in cell-matrix adhesion	NAS Non-traceable Author Statement more info	PubMed
located_in synaptic cleft	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: laminin subunit beta-2

Names: S-LAM beta; S-laminin subunit beta; laminin B1s chain; laminin S; laminin, beta 2 (laminin S)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008094.1 RefSeqGene

Range

5117..17053

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002292.4 → NP_002283.3 laminin subunit beta-2 precursor

See identical proteins and their annotated locations for NP_002283.3

Status: REVIEWED

Source sequence(s)

AC135506, BP354643, CN265778, CN265784, CV814167, S77512, X79683

Consensus CDS

CCDS2789.1

UniProtKB/Swiss-Prot

P55268, Q16321

Related

ENSP00000307156.4, ENST00000305544.9

Conserved Domains (7) summary

smart00283
Location:1445 → 1701

MA; Methyl-accepting chemotaxis-like domains (chemotaxis sensory transducer)

cd00055
Location:521 → 562

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

pfam00053
Location:783 → 831

Laminin_EGF; Laminin EGF domain

pfam00055
Location:57 → 281

Laminin_N; Laminin N-terminal (Domain VI)

pfam16999
Location:1648 → 1755

V-ATPase_G_2; Vacuolar (H+)-ATPase G subunit

cl15454
Location:1483 → 1670

HrpJ; HrpJ-like domain

cl21478
Location:1453 → 1541

ATP-synt_B; ATP synthase B/B' CF(0)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

49121114..49133050 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005265127.5 → XP_005265184.1 laminin subunit beta-2 isoform X1

See identical proteins and their annotated locations for XP_005265184.1

UniProtKB/Swiss-Prot

P55268, Q16321

Related

ENSP00000388325.1, ENST00000418109.5

Conserved Domains (7) summary

smart00283
Location:1445 → 1701

MA; Methyl-accepting chemotaxis-like domains (chemotaxis sensory transducer)

cd00055
Location:521 → 562

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

pfam00053
Location:783 → 831

Laminin_EGF; Laminin EGF domain

pfam00055
Location:57 → 281

Laminin_N; Laminin N-terminal (Domain VI)

pfam16999
Location:1648 → 1755

V-ATPase_G_2; Vacuolar (H+)-ATPase G subunit

cl15454
Location:1483 → 1670

HrpJ; HrpJ-like domain

cl21478
Location:1453 → 1541

ATP-synt_B; ATP synthase B/B' CF(0)