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Tbio Laminin subunit beta-3

Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

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Property Summary

NCBI Gene PubMed Count 80
PubMed Score 111.49
PubTator Score 124.17

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Junctional epidermolysis bullosa 9 0.0 5.0
Disease Target Count Z-score Confidence
Epidermolysis bullosa 21 7.212 3.6
Amelogenesis imperfecta 26 0.0 4.0
Disease Target Count Z-score Confidence
Dental enamel hypoplasia 12 3.829 1.9

Expression

  Differential Expression (15)

Disease log2 FC p
malignant mesothelioma -4.200 2.7e-09
esophageal adenocarcinoma 1.300 3.9e-02
tuberculosis -3.500 4.3e-07
primary pancreatic ductal adenocarcinoma 1.983 2.3e-02
non-small cell lung cancer 1.537 8.7e-09
intraductal papillary-mucinous adenoma (... 3.900 6.4e-05
intraductal papillary-mucinous carcinoma... 3.400 3.8e-04
intraductal papillary-mucinous neoplasm ... 3.700 2.9e-03
lung cancer -3.500 8.3e-05
pancreatic cancer 2.600 9.7e-10
breast carcinoma -1.900 7.1e-05
interstitial cystitis -2.200 4.9e-04
Breast cancer -2.700 5.5e-16
lung carcinoma -1.900 2.9e-19
invasive ductal carcinoma -1.300 1.2e-02

Synonym

Accession Q13751 D3DT88 O14947 Q14733 Q9UJK4 Q9UJL1
Symbols AI1A
LAM5
LAMNB1
BM600-125KDA

Gene

LAMB3

PANTHER Protein Class (2)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (17)

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 GO Function (1)

 GO Component (2)

 GO Process (7)

 Compartment GO Term (18)

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 IMPC Phenotype (2)

 MGI Phenotype (7)

 GWAS Trait (1)

 HCA RNA Cell Line (55)

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 CSPA Cell Line (2)

Pathway (31)

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Protein-protein Interaction (15)

MMP20   PLG   MMP2   MMP3   MMP7   BMP1   MMP12   MMP13   MMP14   DST   LAMC2   PLEC   TMPRSS6   MMP19   COL17A1  

Gene RIF (45)

PMID Text
25867809 An algorithm combining CLDN10, HMGA2, and LAMB3 transcripts was able to discriminate tumors from BTL samples (94% sensitivity and 96% specificity in validation set).
25769099 Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples.
25708563 Case Reports: Junctional epidermolysis bullosa with LAMB3 splice-site mutations.
25032755 LNbeta3 expression may play a key role in the progression and prognosis of pancreatic ductal adenocarcinoma.
24978847 Case Report: linear IgA/IgG bullous dermatosis with anti-laminin-332 autoantibodies.
24742657 Microarray analysis indicates HIV-1 Tat-induced upregulation of laminin, beta 3 (LAMB3) in primary human brain microvascular endothelial cells
24667918 Microarray analysis indicates HIV-1 Tat-induced upregulation of laminin, beta 3 (LAMB3) in primary human brain microvascular endothelial cells
24494736 Novel LAMB3 mutations cause non-syndromic amelogenesis imperfecta with variable expressivity.
23958762 an 8-bp deletion (c.3446_3453del GACTGGAG) shifting the reading frame (p.Gly 1149Glufs*8) and a single nucleotide substitution (c.C3431A) generating an in-frame translation termination codon (p.Ser1144*)associated with amelogenesis imperfecta
23769655 data further enhance the mutation spectrum of the LAMB3 and the COL7A1 genes, and also underscore the crucial roles of these genes in pathogenesis of epidermolysis bullosa
23632796 However, to our knowledge, this is the first report of dominant AI due to a LAMB3 mutation in the absence of JEB.
23441154 osteopontin, LAMB3 and ITGB1 played important roles in the occurrence and metastasis of lung cancer, thus provided important clues to understanding the molecular mechanism of metastasis.
23278291 we report a case of Herlitz junctional epidermolysis bullosa with a novel heterozygous mutation in LAMB3,c.1597G>A (p.Ala533Thr).
22898004 Laminin-5 is a useful biomarker in the evaluation of invasiveness in cervical adenocarcinoma.
22673183 invasive breast cancer cells confer an anoikis-resistant phenotype on myofibroblasts during tissue remodeling by inducing laminin-332 upregulation and integrin beta4 neoexpression
22563463 Data show laminin-332 (alpha3ss3gamma2)(Lm332) matrix supported adhesion of keratinocytes much more strongly and stably than purified Lm332.
21345334 These results suggest that epigenetic activation of LAMB3 and LAMC2 may play an important role in gastric carcinogenesis.
21034821 Cell surface COL17 can interact with laminin 332 and, together, participate in the adherence of a cell to the extracellular matrix.
20163849 The LAMB3 rs2566 variant CT/TT genotypes were associated with a significantly increased risk of cervical cancer, compared with the wild type CC genotype.
20163849 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19940114 Bisecting GlcNAc residues on laminin-332 down-regulate galectin-3-dependent keratinocyte motility.
19701966 Results suggest that laminin (LN)gamma2 and LNbeta3, in conjunction with MMP7, play a key role in the progression of biliary tract cancer.
19700013 Histopathology of anti-laminin 5 mucous membrane pemphigoid is characterized by subepidermal blistering and a sparse to moderate superficial lymphohistiocytic infiltrate with neutrophils and/or eosinophils
19383890 Ln-332 gamma2 may be a therapeutic target against metastatic colon cancer because a lowered beta3:gamma2 ratio would reduce expression of heterotrimeric Ln-332 and increase monomeric gamma2 secretion.
18603785 the alpha3 chain can assemble with only beta3-gamma2 heterodimer to form a heterotrimer via disulfide bonds
18387282 c.1945dupG mutation in Herlitz junctional epidermolysis bullosa
18331784 The expression of LAMB3 mrna was higher in malignant tissue and correlated with the depth of invasion and venous invasion in ESCC.
18284540 degradation [by Candida species] can exert functional disturbances on basement membrane integrity, possibly aiding Candida cell invasion into tissues
17482449 LM-332 is a crucial motility-promoting factor for B-CLL lymphocytes and is a potential constituent favoring the dissemination of B-CLL lymphocytes through vascular basement membranes and possibly lymph node compartments.
17476356 Multiple second-site mutations, all correcting the germline mutation LAMB3 (628G-->A;Glu210Lys), are present in 2 unrelated non-Herlitz junctional epidermolysis bullosa patients with revertant mosaicism.
17137774 Laminin-5 alone stimulates global changes in gene/protein expression in mesenchymal stem cells that lead to commitment of these cells to the osteogenic phenotype, and this correlates with extracellular matrix production.
16870608 Ln-5 is an important regulator of ADPKD cell proliferation and cystogenesis; Ln-5 gamma(2) chain and Ln-5-alpha(6)beta(4) integrin interaction both contribute to these phenotypic changes
16537560 tumor cell migration on laminin-5 is inhibited by HYD1, a biologically active integrin-targeting peptide
16179086 The uncoordinated production of chains of ln-5 in allergic asthma could have a bearing on the poor epithelial cell anchorage in these patients.
16147969 DNA analysis revealed a compound heterozygote for mutations 2379delG and Q995X in the LAMB3 gene in Herlitz junctional epidermolysis bullosa
15854126 the absolute mRNA levels generated from the laminin 5 genes do not determine the translated protein levels of the laminin 5 chains in keratinocytes; the expression of the laminin 5 genes may be controlled by common regulation mechanisms
15373767 homozygous frameshift mutation in LAMB3 was associated to illegitimate splicing leading to non-H junctional epidermolysis bullosa
15370542 Observational study of gene-disease association. (HuGE Navigator)
15363037 In squamous cell carcinoma of the tongue and colorectal carcinoma, laminin 5 beta3 chain is important in the invasiveness of cancer cells.
15331737 Deletion analysis of laminin-beta3 indicated that the region comprising aa 726 to 875 of laminin-beta3 interacts with rotavirus enterotoxin NSP4.
15149852 co-cultures of epithelial cells and fibroblasts were studied to analyse the processing of laminin 5 alpha3, beta3, and gamma2 chains
14612440 proteolytic processing of laminin-5 influences its interaction with alpha3beta1 integrin
12875969 Results identify the point during neoplastic progression in epithelia when the tumor suppressor p16 and laminin 5 are expressed and suggest that normal epithelia may use the same mechanism to generate non-dividing, motile cells for wound repair.
11689492 Gene LAMB3 detected compound heterozygosity for the nonsense mutation R635X and a novel 2 bp deletion (1587delAG) resulting in a downstream premature termination codon.
11311202 Microarray analysis indicates HIV-1 Tat-induced upregulation of laminin, beta 3 (LAMB3) in primary human brain microvascular endothelial cells

AA Sequence 

MRPFFLLCFALPGLLHAQQACSRGACYPPVGDLLVGRTRFLRASSTCGLTKPETYCTQYGEWQMKCCKCD      1 - 70
SRQPHNYYSHRVENVASSSGPMRWWQSQNDVNPVSLQLDLDRRFQLQEVMMEFQGPMPAGMLIERSSDFG     71 - 140
KTWRVYQYLAADCTSTFPRVRQGRPQSWQDVRCQSLPQRPNARLNGGKVQLNLMDLVSGIPATQSQKIQE    141 - 210
VGEITNLRVNFTRLAPVPQRGYHPPSAYYAVSQLRLQGSCFCHGHADRCAPKPGASAGPSTAVQVHDVCV    211 - 280
CQHNTAGPNCERCAPFYNNRPWRPAEGQDAHECQRCDCNGHSETCHFDPAVFAASQGAYGGVCDNCRDHT    281 - 350
EGKNCERCQLHYFRNRRPGASIQETCISCECDPDGAVPGAPCDPVTGQCVCKEHVQGERCDLCKPGFTGL    351 - 420
TYANPQGCHRCDCNILGSRRDMPCDEESGRCLCLPNVVGPKCDQCAPYHWKLASGQGCEPCACDPHNSLS    421 - 490
PQCNQFTGQCPCREGFGGLMCSAAAIRQCPDRTYGDVATGCRACDCDFRGTEGPGCDKASGRCLCRPGLT    491 - 560
GPRCDQCQRGYCNRYPVCVACHPCFQTYDADLREQALRFGRLRNATASLWSGPGLEDRGLASRILDAKSK    561 - 630
IEQIRAVLSSPAVTEQEVAQVASAILSLRRTLQGLQLDLPLEEETLSLPRDLESLDRSFNGLLTMYQRKR    631 - 700
EQFEKISSADPSGAFRMLSTAYEQSAQAAQQVSDSSRLLDQLRDSRREAERLVRQAGGGGGTGSPKLVAL    701 - 770
RLEMSSLPDLTPTFNKLCGNSRQMACTPISCPGELCPQDNGTACGSRCRGVLPRAGGAFLMAGQVAEQLR    771 - 840
GFNAQLQRTRQMIRAAEESASQIQSSAQRLETQVSASRSQMEEDVRRTRLLIQQVRDFLTDPDTDAATIQ    841 - 910
EVSEAVLALWLPTDSATVLQKMNEIQAIAARLPNVDLVLSQTKQDIARARRLQAEAEEARSRAHAVEGQV    911 - 980
EDVVGNLRQGTVALQEAQDTMQGTSRSLRLIQDRVAEVQQVLRPAEKLVTSMTKQLGDFWTRMEELRHQA    981 - 1050
RQQGAEAVQAQQLAEGASEQALSAQEGFERIKQKYAELKDRLGQSSMLGEQGARIQSVKTEAEELFGETM   1051 - 1120
EMMDRMKDMELELLRGSQAIMLRSADLTGLEKRVEQIRDHINGRVLYYATCK                     1121 - 1172
//

Text Mined References (81)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25867809 2015 High Diagnostic Accuracy Based on CLDN10, HMGA2, and LAMB3 Transcripts in Papillary Thyroid Carcinoma.
25769099 2015 Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.
25708563 2015 Junctional epidermolysis bullosa with LAMB3 splice-site mutations.
25032755 2015 Overexpression of ?3 Chains of Laminin-332 is Associated With Clinicopathologic Features and Decreased Survival in Patients With Pancreatic Adenocarcinoma.
24978847 2015 A case of linear IgA/IgG bullous dermatosis with anti-laminin-332 autoantibodies.
24494736 2015 Novel LAMB3 mutations cause non-syndromic amelogenesis imperfecta with variable expressivity.
23958762 2013 LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.
23769655 2013 Genetic analysis of epidermolysis bullosa: identification of mutations in LAMB3 and COL7A1 genes in three families.
23632796 2014 Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.
23441154 2013 Integrative analyses identify osteopontin, LAMB3 and ITGB1 as critical pro-metastatic genes for lung cancer.
23278291 Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.
23154389 2013 Regulation of endodermal differentiation of human embryonic stem cells through integrin-ECM interactions.
22898004 2012 Laminin-5 is a biomarker of invasiveness in cervical adenocarcinoma.
22673183 2012 Invasive breast cancer induces laminin-332 upregulation and integrin ?4 neoexpression in myofibroblasts to confer an anoikis-resistant phenotype during tissue remodeling.
22563463 2012 Polymerized laminin-332 matrix supports rapid and tight adhesion of keratinocytes, suppressing cell migration.
21345334 2011 Aberrant up-regulation of LAMB3 and LAMC2 by promoter demethylation in gastric cancer.
21269460 2011 Initial characterization of the human central proteome.
21034821 2011 Type XVII collagen (BP180) can function as a cell-matrix adhesion molecule via binding to laminin 332.
20163849 2010 Polymorphisms involved in the miR-218-LAMB3 pathway and susceptibility of cervical cancer, a case-control study in Chinese women.
19940114 2010 Bisecting GlcNAc residues on laminin-332 down-regulate galectin-3-dependent keratinocyte motility.
19701966 2009 Overexpression of beta3/gamma2 chains of laminin-5 and MMP7 in biliary cancer.
19700013 2009 Histopathology of anti-laminin 5 mucous membrane pemphigoid.
19383890 2009 A decreased ratio of laminin-332 beta3 to gamma2 subunit mRNA is associated with poor prognosis in colon cancer.
19275936 2009 ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain.
18603785 2008 Expression and chain assembly of human laminin-332 in an insect cell-free translation system.
18387282 2008 Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa.
18331784 2009 Clinical significance of LAMB3 and COL7A1 mRNA in esophageal squamous cell carcinoma.
18284540 2008 Human laminin-332 degradation by Candida proteinases.
17482449 2007 Laminin-332 (Laminin-5) is the major motility ligand for B cell chronic lymphocytic leukemia.
17476356 2007 Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.
17137774 2007 Laminin-5 activates extracellular matrix production and osteogenic gene focusing in human mesenchymal stem cells.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16870608 2006 Laminin 5 regulates polycystic kidney cell proliferation and cyst formation.
16757171 2006 Current insights into the formation and breakdown of hemidesmosomes.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16537560 2006 Synthetic D-amino acid peptide inhibits tumor cell motility on laminin-5.
16179086 2005 Uncoordinated production of Laminin-5 chains in airways epithelium of allergic asthmatics.
16147969 2005 Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa.
15854126 2005 Quantitative analysis of laminin 5 gene expression in human keratinocytes.
15538630 2005 Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15373767 2004 Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.
15370542 2004 Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1.
15363037 2004 Laminin 5 beta3 and gamma2 chains are frequently coexpressed in cancer cells.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15331737 2004 Rotavirus enterotoxin NSP4 binds to the extracellular matrix proteins laminin-beta3 and fibronectin.
15149852 2004 Fibroblasts contribute to the deposition of laminin 5 in the extracellular matrix.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14612440 2004 Recombinant human laminin-5 domains. Effects of heterotrimerization, proteolytic processing, and N-glycosylation on alpha3beta1 integrin binding.
12875969 2003 Co-expression of p16(INK4A) and laminin 5 gamma2 by microinvasive and superficial squamous cell carcinomas in vivo and by migrating wound and senescent keratinocytes in culture.
12802069 2003 Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus.
12482924 2003 Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11867230 2002 Cell line-specific translation of two laminin 5 beta3 chain isoforms.
11311202 2001 Amplification of extracellular matrix and oncogenes in tat-transfected human salivary gland cell lines with expression of laminin, fibronectin, collagens I, III, IV, c-myc and p53.
11296269 2001 In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa.
10964684 2000 Differential expression of the LAMB3 and LAMC2 genes between small cell and non-small cell lung carcinomas.
10811835 2000 The tetraspan molecule CD151, a novel constituent of hemidesmosomes, associates with the integrin alpha6beta4 and may regulate the spatial organization of hemidesmosomes.
10806203 2000 Bone morphogenetic protein 1 is an extracellular processing enzyme of the laminin 5 gamma 2 chain.
10637308 2000 The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosome.
10577906 1999 Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
9989793 1999 NC1 domain of type VII collagen binds to the beta3 chain of laminin 5 via a unique subdomain within the fibronectin-like repeats.
9856855 1998 Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa.
9840442 1998 Two-hybrid analysis reveals multiple direct interactions for thrombospondin 1.
9767254 1998 E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.
9579554 1998 Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa.
9501007 1998 Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa.
9457915 1998 Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
9242513 1997 Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.
9205497 1997 A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele.
8824879 1996 Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.
8530036 1995 Chromosomal loci of 50 human keratinocyte cDNAs assigned by fluorescence in situ hybridization.
8088808 1994 The genes for nicein/kalinin 125- and 100-kDa subunits, candidates for junctional epidermolysis bullosa, map to chromosomes 1q32 and 1q25-q31.
7775432 1995 Structural requirement for cell adhesion to kalinin (laminin-5).
7774918 1995 Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa.
7706760 1995 Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa.
7698759 1994 A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa.
7550320 1995 Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.
7550237 1995 Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3).
7512558 1994 The complete primary structure for a novel laminin chain, the laminin B1k chain.