Property Summary

NCBI Gene PubMed Count 51
PubMed Score 144.20
PubTator Score 48.60

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (17)

Disease log2 FC p
malignant mesothelioma -1.100 2.0e-05
posterior fossa group A ependymoma 1.900 7.3e-14
psoriasis -1.200 2.1e-08
astrocytoma 2.200 1.6e-03
glioblastoma multiforme 1.800 1.5e-27
atypical teratoid / rhabdoid tumor 1.900 3.0e-06
primary pancreatic ductal adenocarcinoma 1.144 4.3e-03
active ulcerative colitis 1.594 1.1e-02
cystic fibrosis -1.100 7.7e-05
pediatric high grade glioma 1.200 5.1e-05
group 4 medulloblastoma -1.200 8.3e-04
pilocytic astrocytoma 1.500 1.8e-06
subependymal giant cell astrocytoma 1.775 1.5e-02
lung carcinoma -1.400 3.9e-18
invasive ductal carcinoma -2.000 8.6e-04
ovarian cancer 1.900 4.9e-05
pancreatic cancer 1.200 2.0e-03

 CSPA Cell Line (3)

Protein-protein Interaction (8)

Gene RIF (26)

PMID Text
24951930 Laminins 411 and 421 differentially promote tumor cell migration via alpha6beta1 integrin and MCAM (CD146).
24856380 No pathogenic LAMB2 mutations were found in the cohort of children with steroid-resistant focal segmental glomerulosclerosis.
24742657 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
21236492 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 controls
21125408 Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children were detected in LAMB2.
20556798 All previously reported and several novel LAMB2 mutations in relation to the associated phenotype in patients from 39 unrelated families, are reviewed.
20507940 Observational study of gene-disease association. (HuGE Navigator)
19367581 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19147489 beta2 chain-containing laminins (beta2-laminins) bound more avidly to alpha3beta1 and alpha7X2beta1 integrins than beta1 chain-containing laminins (beta1-laminins).
19048114 LM alpha4 and beta2 have roles in in vitro migration and in vivo tumorigenicity of prostate cancer cells
18672223 Loss-of-function mutations in laminin beta2 (LAMB2) cause a broad range of ocular pathology, emphasizing the importance of laminin beta2 in eye development.
18594871 Study excluded LAMB2 as a candidate gene for Galloway-Mowat syndrome.
18065803 Pierson syndrome is defined by the association of mental retardation, microcoria and DMS caused by mutation in LAMB2 gene
18058136 Observational study of genotype prevalence. (HuGE Navigator)
17943323 Milder phenotypes of Pearson Syndrome may be related to hypomorphic LAMB2 alleles.
17804866 We demonstrated that overabundance of the beta2 chain of laminin is associated with increased basement membrane thickness and is possibly related to spermatogenic dysfunction
17426950 Study summarizes recent progress concerning the molecular mechanisms of laminins in development and disease.
17371932 Observational study of genotype prevalence. (HuGE Navigator)
16921188 LAMB2 has to be considered as culprit of milder disorders including nephrosis and variable ocular anomalies.
16912710 Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
16898484 Mutations in the LAMB2 gene encoding laminin beta2, a component of the glomerular basement membrane and the neuro-muscular junction are responsible for the characteristic renal and eye abnormalities of Pierson syndrome.
16146715 laminin isoform changes are associated with brain tumor invasion and angiogenesis [review]
15603881 Hepalaminin, an autoantigen from chronic hepatitis C, consists of two domains of laminin beta-2 and a specific domain.
15367484 Deficiency in LAMB2 causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.
11891225 Laminin-10/11 and fibronectin differentially prevent apoptosis induced by serum removal via phosphatidylinositol 3-kinase/Akt- and MEK1/ERK-dependent pathways (Laminin 10; separate entry for Laminin 11).
11311202 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

AA Sequence

MELTSRERGRGQPLPWELRLGLLLSVLAATLAQAPAPDVPGCSRGSCYPATGDLLVGRADRLTASSTCGL      1 - 70
NGPQPYCIVSHLQDEKKCFLCDSRRPFSARDNPHSHRIQNVVTSFAPQRRAAWWQSENGIPAVTIQLDLE     71 - 140
AEFHFTHLIMTFKTFRPAAMLVERSADFGRTWHVYRYFSYDCGADFPGVPLAPPRHWDDVVCESRYSEIE    141 - 210
PSTEGEVIYRVLDPAIPIPDPYSSRIQNLLKITNLRVNLTRLHTLGDNLLDPRREIREKYYYALYELVVR    211 - 280
GNCFCYGHASECAPAPGAPAHAEGMVHGACICKHNTRGLNCEQCQDFYRDLPWRPAEDGHSHACRKCECH    281 - 350
GHTHSCHFDMAVYLASGNVSGGVCDGCQHNTAGRHCELCRPFFYRDPTKDLRDPAVCRSCDCDPMGSQDG    351 - 420
GRCDSHDDPALGLVSGQCRCKEHVVGTRCQQCRDGFFGLSISDRLGCRRCQCNARGTVPGSTPCDPNSGS    421 - 490
CYCKRLVTGRGCDRCLPGHWGLSHDLLGCRPCDCDVGGALDPQCDEGTGQCHCRQHMVGRRCEQVQPGYF    491 - 560
RPFLDHLIWEAEDTRGQVLDVVERLVTPGETPSWTGSGFVRLQEGQTLEFLVASVPKAMDYDLLLRLEPQ    561 - 630
VPEQWAELELIVQRPGPVPAHSLCGHLVPKDDRIQGTLQPHARYLIFPNPVCLEPGISYKLHLKLVRTGG    631 - 700
SAQPETPYSGPGLLIDSLVLLPRVLVLEMFSGGDAAALERQATFERYQCHEEGLVPSKTSPSEACAPLLI    701 - 770
SLSTLIYNGALPCQCNPQGSLSSECNPHGGQCLCKPGVVGRRCDLCAPGYYGFGPTGCQACQCSHEGALS    771 - 840
SLCEKTSGQCLCRTGAFGLRCDRCQRGQWGFPSCRPCVCNGHADECNTHTGACLGCRDHTGGEHCERCIA    841 - 910
GFHGDPRLPYGGQCRPCPCPEGPGSQRHFATSCHQDEYSQQIVCHCRAGYTGLRCEACAPGHFGDPSRPG    911 - 980
GRCQLCECSGNIDPMDPDACDPHTGQCLRCLHHTEGPHCAHCKPGFHGQAARQSCHRCTCNLLGTNPQQC    981 - 1050
PSPDQCHCDPSSGQCPCLPNVQGPSCDRCAPNFWNLTSGHGCQPCACHPSRARGPTCNEFTGQCHCRAGF   1051 - 1120
GGRTCSECQELHWGDPGLQCHACDCDSRGIDTPQCHRFTGHCSCRPGVSGVRCDQCARGFSGIFPACHPC   1121 - 1190
HACFGDWDRVVQDLAARTQRLEQRAQELQQTGVLGAFESSFWHMQEKLGIVQGIVGARNTSAASTAQLVE   1191 - 1260
ATEELRREIGEATEHLTQLEADLTDVQDENFNANHALSGLERDRLALNLTLRQLDQHLDLLKHSNFLGAY   1261 - 1330
DSIRHAHSQSAEAERRANTSALAVPSPVSNSASARHRTEALMDAQKEDFNSKHMANQRALGKLSAHTHTL   1331 - 1400
SLTDINELVCGAPGDAPCATSPCGGAGCRDEDGQPRCGGLSCNGAAATADLALGRARHTQAELQRALAEG   1401 - 1470
GSILSRVAETRRQASEAQQRAQAALDKANASRGQVEQANQELQELIQSVKDFLNQEGADPDSIEMVATRV   1471 - 1540
LELSIPASAEQIQHLAGAIAERVRSLADVDAILARTVGDVRRAEQLLQDARRARSWAEDEKQKAETVQAA   1541 - 1610
LEEAQRAQGIAQGAIRGAVADTRDTEQTLYQVQERMAGAERALSSAGERARQLDALLEALKLKRAGNSLA   1611 - 1680
ASTAEETAGSAQGRAQEAEQLLRGPLGDQYQTVKALAERKAQGVLAAQARAEQLRDEARDLLQAAQDKLQ   1681 - 1750
RLQELEGTYEENERALESKAAQLDGLEARMRSVLQAINLQVQIYNTCQ                         1751 - 1798
//

Text Mined References (54)

PMID Year Title
26091039 2015 A Single Kinase Generates the Majority of the Secreted Phosphoproteome.
24951930 2014 Laminins 411 and 421 differentially promote tumor cell migration via ?6?1 integrin and MCAM (CD146).
24856380 2014 Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
22261194 2012 Proteomics analysis of cardiac extracellular matrix remodeling in a porcine model of ischemia/reperfusion injury.
21269460 2011 Initial characterization of the human central proteome.
21236492 2011 A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
21125408 2011 Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.
20556798 2010 Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
20551380 2010 Proteomics characterization of extracellular space components in the human aorta.
20507940 2010 Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
19367581 2010 Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19147489 2009 The C-terminal region of laminin beta chains modulates the integrin binding affinities of laminins.
19048114 2008 Senescence-induced alterations of laminin chain expression modulate tumorigenicity of prostate cancer cells.
18672223 2008 Ophthalmological aspects of Pierson syndrome.
18594871 2008 Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.
18065803 2008 Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
18058136 2008 Eye involvement in children with primary focal segmental glomerulosclerosis.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17943323 2008 A milder variant of Pierson syndrome.
17804866 Expression and distribution of laminin chains in the testis for patients with azoospermia.
17426950 2007 Laminin isoforms in development and disease.
17371932 2007 Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).
16921188 2006 A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2.
16912710 2006 Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
16898484 2006 [LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia].
16751776 2006 A germline-specific class of small RNAs binds mammalian Piwi proteins.
16581764 2006 Multiple functions of the integrin alpha6beta4 in epidermal homeostasis and tumorigenesis.
16236823 2006 Laminin-10 and Lutheran blood group glycoproteins in adhesion of human endothelial cells.
16146715 2006 Changes in laminin isoforms associated with brain tumor invasion and angiogenesis.
15603881 2004 Identification of a new autoantibody in patients with chronic hepatitis.
15367484 2004 Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14557481 2003 Laminin isoforms in fetal and adult human adrenal cortex.
11964076 2002 Regulation of melanoma cell migration and invasion by laminin-5 and alpha3beta1 integrin (VLA-3).
11891225 2002 Laminin-10/11 and fibronectin differentially prevent apoptosis induced by serum removal via phosphatidylinositol 3-kinase/Akt- and MEK1/ERK-dependent pathways.
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.
10964500 2000 Posttranslational modifications and beta/gamma chain associations of human laminin alpha1 and laminin alpha5 chains: purification of laminin-3 from placenta.
10671376 2000 Integrin binding specificity of laminin-10/11: laminin-10/11 are recognized by alpha 3 beta 1, alpha 6 beta 1 and alpha 6 beta 4 integrins.
10454804 1999 Expression of laminin beta2 chain in normal human bone marrow.
10393422 1999 Characterization of the human laminin beta2 chain locus (LAMB2): linkage to a gene containing a nonprocessed, transcribed LAMB2-like pseudogene (LAMB2L) and to the gene encoding glutaminyl tRNA synthetase (QARS).
9645947 1998 Human colonic cancer cells synthesize and adhere to laminin-5. Their adhesion to laminin-5 involves multiple receptors among which is integrin alpha2beta1.
8662701 1996 Structural organization of the human and mouse laminin beta2 chain genes, and alternative splicing at the 5' end of the human transcript.
7967523 1994 Selective assembly of laminin variants by human carcinoma cells.
7921537 1994 A new nomenclature for the laminins.
7795887 1995 The human laminin beta 2 chain (S-laminin): structure, expression in fetal tissues and chromosomal assignment of the LAMB2 gene.
7698745 1994 Human beta 2 chain of laminin (formerly S chain): cDNA cloning, chromosomal localization, and expression in carcinomas.
2922051 1989 A laminin-like adhesive protein concentrated in the synaptic cleft of the neuromuscular junction.
2099832 1990 Distribution and isolation of four laminin variants; tissue restricted distribution of heterotrimers assembled from five different subunits.