LAMB2 laminin, beta 2 (laminin S) [Homo sapiens] - Gene

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Summary

Official Symbol: LAMB2provided by HGNC
Official Full Name: laminin, beta 2 (laminin S)provided by HGNC
Primary source: HGNC:6487
See related: Ensembl:ENSG00000172037; HPRD:01034; MIM:150325; Vega:OTTHUMG00000156807
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
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]

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Genomic context

Location :: 3p21

Sequence :: Chromosome: 3; NC_000003.11 (49158547..49170599, complement)

See LAMB2 in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Comprehensive gene sequencing revealed a novel LAMB2 variant (c.440A --> G; His147R) that was homozygous in the 9 living, affected family members, observed at a frequency of 2.1% in the Old Order Mennonite population, and absent in 91 non-Mennonite con...
Title: A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children were detected in LAMB2.
Title: Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.
All previously reported and several novel LAMB2 mutations in relation to the associated phenotype in patients from 39 unrelated families, are reviewed.
Title: Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
beta2 chain-containing laminins (beta2-laminins) bound more avidly to alpha3beta1 and alpha7X2beta1 integrins than beta1 chain-containing laminins (beta1-laminins).
Title: The C-terminal region of laminin beta chains modulates the integrin binding affinities of laminins.
LM alpha4 and beta2 have roles in in vitro migration and in vivo tumorigenicity of prostate cancer cells
Title: Senescence-induced alterations of laminin chain expression modulate tumorigenicity of prostate cancer cells.
Study excluded LAMB2 as a candidate gene for Galloway-Mowat syndrome.
Title: Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.
Loss-of-function mutations in laminin beta2 (LAMB2) cause a broad range of ocular pathology, emphasizing the importance of laminin beta2 in eye development.
Title: Ophthalmological aspects of Pierson syndrome.
Milder phenotypes of Pearson Syndrome may be related to hypomorphic LAMB2 alleles.
Title: A milder variant of Pierson syndrome.

Submit: New GeneRIF Correction See all (21)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Nephrotic syndrome, type 5, with or without ocular abnormalities

MIM: 614199

HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates the expression of extracellular matrix proteins, including the major basement membrane protein laminin	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:110107	BioGRID:112221	ATXN7	BioGRID	PubMed	Two-hybrid
BioGRID:110107	BioGRID:119982	PLEKHA5	BioGRID	PubMed	Two-hybrid
BioGRID:110107	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
integrin binding	IEA Inferred from Electronic Annotation more info
structural molecule activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
Schwann cell development	IEA Inferred from Electronic Annotation more info
astrocyte development	IEA Inferred from Electronic Annotation more info
axon extension involved in regeneration	IEA Inferred from Electronic Annotation more info
cell adhesion	IEA Inferred from Electronic Annotation more info
cell morphogenesis involved in differentiation	IEA Inferred from Electronic Annotation more info
metanephric glomerular basement membrane development	IEA Inferred from Electronic Annotation more info
metanephric glomerular visceral epithelial cell development	IEA Inferred from Electronic Annotation more info
neuromuscular junction development	IEA Inferred from Electronic Annotation more info
neuron projection development	IEA Inferred from Electronic Annotation more info
retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
basal lamina	TAS Traceable Author Statement more info	PubMed
basement membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with extracellular matrix	IDA Inferred from Direct Assay more info
colocalizes_with extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
extracellular region	TAS Traceable Author Statement more info
laminin-11 complex	TAS Traceable Author Statement more info	PubMed
laminin-3 complex	IPI Inferred from Physical Interaction more info	PubMed
synaptosome	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: laminin subunit beta-2

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

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NCBI Reference Sequences (RefSeq)

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

5001..17053

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

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

Consensus CDS

CCDS2789.1

UniProtKB/Swiss-Prot

P55268

Related

ENSP00000307156, OTTHUMP00000210664, ENST00000305544, OTTHUMT00000345941

Conserved Domains (6) summary

cd00055
Location:782 – 829
Blast Score: 151

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 ...

COG1196
Location:1544 – 1796
Blast Score: 167

Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

smart00180
Location:783 – 828
Blast Score: 177

EGF_Lam; Laminin-type epidermal growth factor-like domai

pfam00053
Location:1095 – 1143
Blast Score: 137

Laminin_EGF; Laminin EGF-like (Domains III and V)

cl02806
Location:47 – 281
Blast Score: 876

Laminin_N; Laminin N-terminal (Domain VI)

cl07975
Location:1701 – 1790
Blast Score: 104

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

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p5 Primary Assembly

Range

49158547..49170599, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

49217083..49229135, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC135506.3 (63347..63466)	None
genomic	CH471055.1	EAW64958.1
		EAW64959.1
genomic	Z68155.2	CAA92279.1
genomic	Z68156.1	None
mRNA	AK094050.1	BAC04272.1
mRNA	BP354643.1	None
mRNA	CN265778.1	None
mRNA	CN265784.1	None
mRNA	CV814167.1	None
mRNA	S77512.1	AAB34682.2
mRNA	X72760.1	CAA51288.1
mRNA	X79683.1	CAA56130.1
other-genetic	BC172384.1	AAI72384.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P55268.2	GenPept	UniProtKB/Swiss-Prot:P55268
Q15483	GenPept	UniProtKB/TrEMBL:Q15483
Q8N9Q8	GenPept	UniProtKB/TrEMBL:Q8N9Q8