Lamb2 laminin, beta 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lamb2provided by MGI
Official Full Name: laminin, beta 2provided by MGI
Primary source: MGI:MGI:99916
See related: Ensembl:ENSMUSG00000052911 AllianceGenome:MGI:99916
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Lams; npht; Lamb-2
Summary: Enables integrin binding activity. A structural constituent of synapse-associated extracellular matrix. Acts upstream of or within several processes, including metanephric glomerulus development; neurogenesis; and visual perception. Located in basement membrane and synapse. Part of laminin-3 complex. Is active in neuromuscular junction and synaptic cleft. Is expressed in several structures, including Reichert's membrane; alimentary system; brain; decidua; and submandibular gland primordium. Used to study Pierson syndrome and nephrosis. Human ortholog(s) of this gene implicated in Pierson syndrome; nephrotic syndrome type 5; and primary open angle glaucoma. Orthologous to human LAMB2 (laminin subunit beta 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in ovary adult (RPKM 79.6), heart adult (RPKM 69.8) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F2; 9 59.4 cM

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (108357080..108367729)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (108479847..108490530)

Chromosome 9 - NC_000075.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A deletion in the N-terminal polymerizing domain of laminin beta2 is a new mouse model of chronic nephrotic syndrome.
Title: A deletion in the N-terminal polymerizing domain of laminin β2 is a new mouse model of chronic nephrotic 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.
Loss of Lamb2 alters calcium sensitivity and voltage-gated calcium channel maturation of neurotransmission at the neuromuscular junction
Title: Loss of β2-laminin alters calcium sensitivity and voltage-gated calcium channel maturation of neurotransmission at the neuromuscular junction.
Isolated a novel mouse strain with a viable nephrotic phenotype and used whole-genome sequencing to isolate a causative hypomorphic mutation in Lamb2 in hereditary nephrotic syndrome.
Title: Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome.
mild variant of Pierson syndrome caused by the C321R-LAMB2 mutation may be a prototypical ER storage disease, which may benefit from treatment approaches that target the handling of misfolded proteins.
Title: Laminin β2 gene missense mutation produces endoplasmic reticulum stress in podocytes.
These data suggest that beta2 and gamma3-containing laminins play an important dose-dependent role in development of the cortical pial basement membrane
Title: β2 and γ3 laminins are critical cortical basement membrane components: ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia.
Deletion of Lamb2 and Lamc3 genes affects astrocyte migration and spatial patterning in the retina.
Title: Laminins containing the β2 and γ3 chains regulate astrocyte migration and angiogenesis in the retina.
These results suggest the possibility that up-regulation of LAMB1 in podocytes, should it become achievable, would likely lessen the severity of nephrotic syndrome in patients carrying LAMB2 mutations.
Title: Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndrome.
a strong impact of laminin beta2 and gamma3 subunits on the expression and function of both aquaporin-4 and Kir4.1, two important membrane proteins in Muller cells.
Title: Genetic deletion of laminin isoforms β2 and γ3 induces a reduction in Kir4.1 and aquaporin-4 expression and function in the retina.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW211941 (e-PCR)
- UniSTS:179980

GDB:580683 (e-PCR)
- UniSTS:157844

GDB:580686 (e-PCR)
- UniSTS:157845

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables integrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables integrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of synapse-associated extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of synapse-associated extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of synapse-associated extracellular matrix	IEP Inferred from Expression Pattern more info	PubMed
enables structural constituent of synapse-associated extracellular matrix	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Schwann cell development	IDA Inferred from Direct Assay more info	PubMed
involved_in animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within astrocyte development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within axon extension involved in regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within axon guidance	IGI Inferred from Genetic Interaction more info	PubMed
involved_in basement membrane assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within metanephric glomerular basement membrane development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within metanephric podocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron projection development	IDA Inferred from Direct Assay more info	PubMed
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
acts_upstream_of_or_within retina development in camera-type eye	IGI Inferred from Genetic Interaction more info	PubMed
involved_in substrate adhesion-dependent cell spreading	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within synapse organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tissue development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within visual perception	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basement membrane	ISO Inferred from Sequence Orthology more info
located_in basement membrane	NAS Non-traceable Author Statement more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
part_of laminin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of laminin complex	IDA Inferred from Direct Assay more info	PubMed
part_of laminin-3 complex	IDA Inferred from Direct Assay more info	PubMed
part_of laminin-3 complex	ISO Inferred from Sequence Orthology more info
is_active_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
part_of protein complex involved in cell-matrix adhesion	NAS Non-traceable Author Statement more info	PubMed
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic cleft	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: laminin subunit beta-2

Names: Laminin S; S-LAM beta; S-laminin subunit beta; laminin-11 subunit beta; laminin-14 subunit beta; laminin-15 subunit beta; laminin-3 subunit beta; laminin-4 subunit beta; laminin-7 subunit beta; laminin-9 subunit beta

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.

mRNA and Protein(s)

NM_001411228.1 → NP_001398157.1 laminin subunit beta-2 precursor

Status: VALIDATED

Source sequence(s)

CT010508

UniProtKB/Swiss-Prot

Q61292, Q62182, Q8R0Y0
NM_001411229.1 → NP_001398158.1 laminin subunit beta-2 precursor

Status: VALIDATED

Source sequence(s)

CT010508

UniProtKB/Swiss-Prot

Q61292, Q62182, Q8R0Y0
NM_008483.4 → NP_032509.2 laminin subunit beta-2 precursor

See identical proteins and their annotated locations for NP_032509.2

Status: VALIDATED

Source sequence(s)

CT010508

Consensus CDS

CCDS23528.1

UniProtKB/Swiss-Prot

Q61292, Q62182, Q8R0Y0

Related

ENSMUSP00000069087.5, ENSMUST00000065014.10

Conserved Domains (4) summary

COG1196
Location:1257 → 1789

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00055
Location:524 → 565

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:784 → 832

Laminin_EGF; Laminin EGF domain

pfam00055
Location:64 → 284

Laminin_N; Laminin N-terminal (Domain VI)