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LAMB3 Gene

protein-coding   GIFtS: 68
GCID: GC01M209788

Laminin, Beta 3

(Previous names: laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600...)
(Previous symbol: LAMNB1)
  See LAMB3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Laminin, Beta 31 2     Nicein Subunit Beta2 3
LAMNB11 2 3     BM600-125KDA2
Laminin, Beta 3 (Nicein (125kD), Kalinin (140kD), BM600 (125kD))1 2     LAM52
Epiligrin Subunit Bata2 3     kalinin-140kDa2
Kalinin B1 Chain2 3     Laminin S B3 Chain2
Kalinin Subunit Beta2 3     Laminin Subunit Beta-32
Laminin B1k Chain2 3     nicein-125kDa2
Laminin-5 Subunit Beta2 3     

External Ids:    HGNC: 64901   Entrez Gene: 39142   Ensembl: ENSG000001968787   OMIM: 1503105   UniProtKB: Q137513   

Export aliases for LAMB3 gene to outside databases

Previous GC identifers: GC01M208427 GC01M205494 GC01M206427 GC01M206867 GC01M206176 GC01M207854 GC01M180463


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LAMB3 Gene:
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)

GeneCards Summary for LAMB3 Gene:
LAMB3 (laminin, beta 3) is a protein-coding gene. Diseases associated with LAMB3 include lamb3-related junctional epidermolysis bullosa, and maternal uniparental disomy of chromosome 1. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is NTN1.

UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751
Function: 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

Gene Wiki entry for LAMB3 (Laminin, beta 3) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LAMB3 gene promoter:
         TBP   STAT3   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLAMB3 promoter sequence
   Search Chromatin IP Primers for LAMB3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LAMB3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q32.2   HGNC cytogenetic band: 1q32

LAMB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMB3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M209788:  view genomic region     (about GC identifiers)

Start:
209,788,215 bp from pter      End:
209,825,820 bp from pter
Size:
37,606 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751 (See protein sequence)
Recommended Name: Laminin subunit beta-3 precursor  
Size: 1172 amino acids; 129572 Da
Subunit: Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma),
which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short
arms with globules at each end. Beta-3 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein).
Interacts with ECM1
Secondary accessions: D3DT88 O14947 Q14733 Q9UJK4 Q9UJL1

Explore the universe of human proteins at neXtProt for LAMB3: NX_Q13751

Explore proteomics data for LAMB3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn220, Asn604, Ser712, Asn810
  • Modification sites at PhosphoSitePlus

  • See LAMB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000219.2  NP_001017402.1  NP_001121113.1  

    ENSEMBL proteins: 
     ENSP00000348384   ENSP00000355997   ENSP00000398683   ENSP00000388960   ENSP00000375778  
    Reactome Protein details: Q13751

    LAMB3 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for LAMB3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    LAM: Laminins

    3 InterPro protein domains:
     IPR008211 Laminin_N
     IPR013032 EGF-like_CS
     IPR002049 EGF_laminin

    Graphical View of Domain Structure for InterPro Entry Q13751

    ProtoNet protein and cluster: Q13751

    1 Blocks protein domain: IPB002049 Laminin-type EGF-like domain

    UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751
    Domain: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil
    structure
    Domain: Domain VI is globular
    Similarity: Contains 6 laminin EGF-like domains
    Similarity: Contains 1 laminin N-terminal domain


    Find genes that share domains with LAMB3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LAMB3_HUMAN, Q13751
    Function: 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

         Genatlas biochemistry entry for LAMB3:
    laminin 5 (kalinin/nicein),beta 3 polypeptide,component of cutaneous basement membrane zone,expressed in
    stratifying squamous epithelium

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS7550320
    GO:0005515protein binding IPI19275936
    GO:0032403protein complex binding IEA--
         
    Find genes that share ontologies with LAMB3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for LAMB3:
     Cell cycle / mitosis defect 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Lamb3):
     craniofacial  digestive/alimentary  integument  mortality/aging  respiratory system 

    Find genes that share phenotypes with LAMB3           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LAMB3
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    miRNA
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    miRTarBase miRNAs that target LAMB3:
    hsa-mir-124-3p (MIRT023092), hsa-mir-16-5p (MIRT031939), hsa-mir-218-5p (MIRT001062)

    Block miRNA regulation of human, mouse, rat LAMB3 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate LAMB3:
    hsa-miR-133a hsa-miR-133b hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmidLAMB3 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): LAMB3 (NM_001127641)
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    PureStem ES-209, Meso-prx/latp Progenitor
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMB3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LAMB3_HUMAN, Q13751: Secreted, extracellular space, extracellular matrix, basement membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005604basement membrane ----
    GO:0005610laminin-5 complex IEA--

    Find genes that share ontologies with LAMB3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LAMB3 About   (see all 16)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    2Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation0.31
    Cell adhesion ECM remodeling0.31
    3Alpha6-Beta4 Integrin Signaling Pathway
    Alpha6-Beta4 Integrin Signaling Pathway
    Type I hemidesmosome assembly0.00
    4Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    5ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58


    Find genes that share SuperPaths with LAMB3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for LAMB3 (see all 14)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    CDK5 Pathway
    Transendothelial Migration of Leukocytes

    1 GeneGo (Thomson Reuters) Pathway for LAMB3
        Cell adhesion ECM remodeling

    2 BioSystems Pathways for LAMB3
        Focal Adhesion
    Alpha6-Beta4 Integrin Signaling Pathway

    Selected Reactome Pathways for LAMB3 (see all 6)
        Anchoring fibril formation
    Laminin interactions
    Type I hemidesmosome assembly
    Assembly of collagen fibrils and other multimeric structures
    Degradation of the extracellular matrix


    Selected Kegg Pathways  (Kegg details for LAMB3) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Toxoplasmosis
    Amoebiasis

        Pathway & Disease-focused RT2 Profiler PCR Array including LAMB3: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for LAMB3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LAMB3 (Q137512, 3 ENSP000003483844) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDIA3P301012, 3MINT-4301478 I2D: score=1 
    LAMA3Q167873, ENSP000003245324I2D: score=2 STRING: ENSP00000324532
    BMP1P134973, ENSP000003057144I2D: score=1 STRING: ENSP00000305714
    LAMC2Q137533, ENSP000002641444I2D: score=1 STRING: ENSP00000264144
    COL7A1Q023883, ENSP000003323714I2D: score=2 STRING: ENSP00000332371
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0008544epidermis development TAS7774918
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0031581hemidesmosome assembly TAS--

    Find genes that share ontologies with LAMB3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LAMB3

    1 Novoseek inferred chemical compound relationship for LAMB3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kalinin 85.4 2 7833047 (1), 7635220 (1)



    Find genes that share compounds with LAMB3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LAMB3 gene (3 alternative transcripts): 
    NM_000228.2  NM_001017402.1  NM_001127641.1  

    Unigene Cluster for LAMB3:

    Laminin, beta 3
    Hs.497636  [show with all ESTs]
    Unigene Representative Sequence: NM_001017402
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356082(uc001hhh.3 uc010psl.1 uc009xcp.1) ENST00000367030
    ENST00000455193 ENST00000415782 ENST00000391911(uc001hhg.3 uc009xco.3)

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    hsa-miR-133a hsa-miR-133b hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmidLAMB3 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat LAMB3
      QuantiFast Probe-based Assays in human, mouse, rat LAMB3

    Additional mRNA sequence: 

    AK296851.1 AK309524.1 AY035783.1 BC058922.1 BC075838.1 D37766.1 L25541.1 

    13 DOTS entries:

    DT.95186987  DT.86858908  DT.121417740  DT.121417732  DT.99927221  DT.100755268  DT.100014491  DT.100755266 
    DT.100755267  DT.121417754  DT.92409688  DT.95218181  DT.92443575 

    Selected AceView cDNA sequences (see all 248):

    BM043640 BM831008 CB853666 AI692263 BQ918264 AL555216 BQ687386 BU538660 
    BM047246 BQ951321 BQ951009 CA488672 BG681883 BQ083941 AI653969 BG680183 
    BM999909 BQ027535 AW087532 AW079615 BM819029 BM769454 BM831118 AL555685 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LAMB3 (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^
    SP1:                    -                                   -                                                                                                   
    SP2:                                                        -                                                                                                   
    SP3:                                                        -                                                                                                   
    SP4:                                                                                                                                                            
    SP5:                    -                                   -     -     -                                                                                       

    ExUns: 16a · 16b · 16c · 16d ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25
    SP1:                                                                                                                  
    SP2:                                                                                                                  
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for LAMB3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LAMB3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCATTGAAAC
    LAMB3 Expression
    About this image


    LAMB3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 7 entries
             Early Ameloblasts Dental Enamel
             Dental Enamel
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
     
     Epithelial Cells
             Early Ameloblasts Dental Enamel
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Keratinocytes-like cells
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Epithelial-like cells
    LAMB3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LAMB3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.497636

    UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751
    Tissue specificity: Found in the basement membranes (major component)

        Pathway & Disease-focused RT2 Profiler PCR Array including LAMB3: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

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    OriGene qPCR primer pairs and template standards for LAMB3
    OriGene qSTAR qPCR primer pairs in human, mouse for LAMB3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LAMB3
    QuantiTect SYBR Green Assays in human, mouse, rat LAMB3
    QuantiFast Probe-based Assays in human, mouse, rat LAMB3
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMB3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for LAMB3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lamb31 , 5 laminin, beta 31, 5 82.28(n)1
    82.62(a)1
      1 (97.71 cM)5
    167801  NM_001277928.11  NP_001264857.11 
     1933019575 
    chicken
    (Gallus gallus)
    Aves LAMB31 laminin, beta 3 62.38(n)
    53.69(a)
      428268  XM_425827.3  XP_425827.3 
    lizard
    (Anolis carolinensis)
    Reptilia LAMB36
    laminin, beta 3
    52(a)
    1 ↔ 1
    4(125895133-125933194)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia lamb31 laminin, beta 3 58.01(n)
    51.31(a)
      100125073  XM_002933504.2  XP_002933550.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LAMB36
    laminin, beta 3
    30(a)
    1 ↔ 1
    22(1050511-1065964) ENSDARG00000059369


    ENSEMBL Gene Tree for LAMB3 (if available)
    TreeFam Gene Tree for LAMB3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LAMB3 gene
    NTN12  NTNG12  NTN32  NTN42  NTN52  NTNG22  
    4 SIMAP similar genes for LAMB3 using alignment to 2 protein entries:     LAMB3_HUMAN (see all proteins):
    LAMB4    LAMB1    LAMB2    NTN4

    Find genes that share paralogs with LAMB3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LAMB3 (see all 1254)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0373104
    Generalized atrophic benign epidermolysis bullosa (GABEB)4--see VAR_0373102 G A mis40--------
    VAR_0041704
    Generalized atrophic benign epidermolysis bullosa (GABEB)4--see VAR_0041702 E K mis40--------
    VAR_0041714
    Epidermolysis bullosa, junctional, Herlitz type (H-JEB)4--see VAR_0041712 P L mis40--------
    VAR_0358204
    A colorectal cancer sample4--see VAR_0358202 R C mis40--------
    VAR_0373114
    Generalized atrophic benign epidermolysis bullosa (GABEB)4--see VAR_0373112 K Q mis40--------
    rs803566821,2
    C,Fpathogenic1216604237(-) AGATCC/TGAGCA 6 R * stg11Minor allele frequency- T:0.00NA 4552
    rs803566801,2
    Cpathogenic1216628538(-) TTCTCC/TGAGCT 6 R * stg11Minor allele frequency- T:0.00EU 1323
    rs2003223801,2
    Cuntested1216601113(+) TCCATC/G/TTGGGA 6 Q syn11EU 963
    rs114468101,2
    C--180482193(+) ATTCA-/CAAAAA 3 -- int1 trp30--------
    rs1138742401,2
    C--180494342(+) AGGGG-/A/AA  
            
    AAAAA
    3 -- int11CSA 2

    HapMap Linkage Disequilibrium report for LAMB3 (209788215 - 209825820 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for LAMB3: --
    Human Gene Mutation Database (HGMD): LAMB3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LAMB3
    DNA2.0 Custom Variant and Variant Library Synthesis for LAMB3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 150310   
    OMIM disorders: 226700  226650  
    UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751
  • Epidermolysis bullosa, junctional, Herlitz type (H-JEB) [MIM:226700]: An infantile and lethal form of
    junctional epidermolysis bullosa, a group of blistering skin diseases characterized by tissue separation which
    occurs within the dermo-epidermal basement In the Herlitz type, death occurs usually within the first six months
    of life. Occasionally, children survive to teens. It is marked by bullous lesions at birth and extensive
    denudation of skin and mucous membranes that may be hemorrhagic. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of
    junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and
    tooth abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for LAMB3:    
    About MalaCards
    lamb3-related junctional epidermolysis bullosa    maternal uniparental disomy of chromosome 1    junctional epidermolysis bullosa, herlitz type    amelogenesis imperfecta, type ib
    junctional epidermolysis bullosa, non-herlitz type    junctional epidermolysis bullosa    epidermolysis bullosa    mucous membrane pemphigoid

    1 disease from the University of Copenhagen DISEASES database for LAMB3:
    Epidermolysis bullosa

    Find genes that share disorders with LAMB3           About GenesLikeMe

    10 Novoseek inferred disease relationships for LAMB3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epidermolysis bullosa junctional 98.5 46 9457915 (4), 10469327 (3), 8618058 (3), 11023379 (3) (see all 30)
    gabeb 93.1 6 10951252 (3), 9690563 (2), 9767254 (1)
    lethal junctional epidermolysis bullosa 91 2 9579554 (1), 11296269 (1)
    epidermolysis bullosa 86.5 2 7774918 (1), 7550237 (1)
    skin diseases 60 6 8618058 (1), 9457915 (1), 9759651 (1), 8618020 (1) (see all 6)
    pemphigoid bullous 55.2 1 9487212 (1)
    necrosis 0 1 7635220 (1)
    cancer lung 0 2 10964684 (1)
    tumors 0 6 7635220 (1), 14973053 (1), 15846078 (1), 14695139 (1) (see all 5)
    cancer 0 3 18570662 (1), 14695139 (1)

    GeneTests: LAMB3
    GeneReviews: LAMB3
    Genetic Association Database (GAD): LAMB3
    Human Genome Epidemiology (HuGE) Navigator: LAMB3 (2 documents)

    Export disorders for LAMB3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LAMB3 gene, integrated from 10 sources (see all 149) (see top 10):
    (articles sorted by number of sources associating them with LAMB3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. (PubMed id 7774918)1, 2, 3, 9 Pulkkinen L.... Uitto J. (Genomics 1995)
    2. Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3). (PubMed id 7550237)1, 2, 9 Pulkkinen L.... Uitto J. (Hum. Mutat. 1995)
    3. Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. (PubMed id 17476356)1, 2, 9 Pasmooij A.M.G.... Jonkman M.F. (J. Clin. Invest. 2007)
    4. E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. (PubMed id 9767254)1, 2, 9 Mellerio J.E.... McGrath J.A. (Br. J. Dermatol. 1998)
    5. The complete primary structure for a novel laminin chain, the laminin B1k chain. (PubMed id 7512558)1, 2, 9 Gerecke D.R.... Burgeson R.E. (J. Biol. Chem. 1994)
    6. Polymorphisms involved in the miR-218-LAMB3 pathway and susceptibility of cervical cancer, a case-control study in Chinese women. (PubMed id 20163849)1, 4, 9 Zhou X....Hu Z. (Gynecol. Oncol. 2010)
    7. In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa. (PubMed id 11296269)1, 2, 9 Robbins P.B.... Khavari P.A. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    8. 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. (PubMed id 15370542)1, 4, 9 Hayashi M....Allikmets R. (Ophthalmic Genet. 2004)
    9. ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain. (PubMed id 19275936)1, 2 Sercu S.... Merregaert J. (Matrix Biol. 2009)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    11. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    12. Chromosomal loci of 50 human keratinocyte cDNAs assigned by fluorescence in situ hybridization. (PubMed id 8530036)1, 2 Morishima Y....Inazawa J. (Genomics 1995)
    13. The genes for nicein/kalinin 125- and 100-kDa subunits, candidates for junctional epidermolysis bullosa, map to chromosomes 1q32 and 1q25-q31. (PubMed id 8088808)1, 3 Vailly J....Meneguzzi G. (Genomics 1994)
    14. Clinical significance of LAMB3 and COL7A1 mRNA in esophageal squamous cell carcinoma. (PubMed id 18331784)1, 9 Kita Y....Mori M. (Eur J Surg Oncol 2009)
    15. Differential expression of the LAMB3 and LAMC2 genes between small cell and non-small cell lung carcinomas. (PubMed id 10964684)1, 9 Manda R....Yokota J. (Biochem. Biophys. Res. Commun. 2000)
    16. Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. (PubMed id 9579554)1, 9 Takizawa Y....Uitto J. (J. Invest. Dermatol. 1998)
    17. Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. (PubMed id 9457915)1, 9 Takizawa Y....Nishikawa T. (J. Invest. Dermatol. 1998)
    18. Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. (PubMed id 9242513)1, 9 Pulkkinen L....Uitto J. (J. Invest. Dermatol. 1997)
    19. Quantitative analysis of laminin 5 gene expression in human keratinocytes. (PubMed id 15854126)1, 9 Akutsu N....Nishiyama T. (Exp. Dermatol. 2005)
    20. Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. (PubMed id 15373767)1, 9 Posteraro P....Castiglia D. (J. Invest. Dermatol. 2004)
    21. Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. (PubMed id 10577906)1, 9 Floeth M. and Bruckner-Tuderman L. (Am. J. Hum. Genet. 1999)
    22. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. (PubMed id 8824879)1, 9 Kivirikko S....Christiano A.M. (Hum. Mol. Genet. 1996)
    23. A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. (PubMed id 7698759)1, 9 Pulkkinen L....Uitto J. (Genomics 1994)
    24. Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. (PubMed id 9501007)1, 9 Posteraro P....Zambruno G. (Biochem. Biophys. Res. Commun. 1998)
    25. Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa. (PubMed id 18387282)1, 9 Castori M....Castiglia D. (J. Dermatol. Sci. 2008)
    26. Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. (PubMed id 15538630)1, 9 MA1hle C....Schneider H. (Hum. Genet. 2005)
    27. Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. (PubMed id 9856855)1, 9 Pulkkinen L. and Uitto J. (J. Invest. Dermatol. 1998)
    28. Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa. (PubMed id 16147969)1, 9 Hata D....Miyazaki K. (Pediatrics 2005)
    29. Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. (PubMed id 11689492)1, 9 Gache Y....Meneguzzi G. (Hum. Mol. Genet. 2001)
    30. 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. (PubMed id 9205497)1, 9 Ashton G.H....McGrath J.A. (Br. J. Dermatol. 1997)
    31. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. (PubMed id 7550320)1, 9 McGrath J.A....Uitto J. (Nat. Genet. 1995)
    32. Integrative analyses identify osteopontin, LAMB3 and ITGB1 as critical pro-metastatic genes for lung cancer. (PubMed id 23441154)1 Wang X.M....Yao M. (PLoS ONE 2013)
    33. LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. (PubMed id 23958762)1 Kim J.W....Hu J.C. (J. Dent. Res. 2013)
    34. Polymerized laminin-332 matrix supports rapid and tight adhesion of keratinocytes, suppressing cell migration. (PubMed id 22563463)1 Kariya Y....Miyazaki K. (PLoS ONE 2012)
    35. Invasive breast cancer induces laminin-332 upregulation and integrin I^4 neoexpression in myofibroblasts to confer an anoikis-resistant phenotype during tissue remodeling. (PubMed id 22673183)1 Kim B.G....Cho N.H. (Breast Cancer Res. 2012)
    36. Laminin-5 is a biomarker of invasiveness in cervical adenocarcinoma. (PubMed id 22898004)1 Imura J....Fujimori T. (Diagn Pathol 2012)
    37. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    38. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    39. Aberrant up-regulation of LAMB3 and LAMC2 by promoter demethylation in gastric cancer. (PubMed id 21345334)1 Kwon O.H....Kim Y.S. (Biochem. Biophys. Res. Commun. 2011)
    40. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    41. Type XVII collagen (BP180) can function as a cell-matrix adhesion molecule via binding to laminin 332. (PubMed id 21034821)1 Van den Bergh F....Giudice G.J. (Matrix Biol. 2011)
    42. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    43. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    44. Bisecting GlcNAc residues on laminin-332 down-regulate galectin-3-dependent keratinocyte motility. (PubMed id 19940114)1 Kariya Y....Gu J. (J. Biol. Chem. 2010)
    45. A decreased ratio of laminin-332 beta3 to gamma2 subunit mRNA is associated with poor prognosis in colon cancer. (PubMed id 19383890)1 Guess C.M....Quaranta V. (amp 2009)
    46. Histopathology of anti-laminin 5 mucous membrane pemphigoid. (PubMed id 19700013)1 Rose C....Shimanovich I. (J. Am. Acad. Dermatol. 2009)
    47. Overexpression of beta3/gamma2 chains of laminin-5 and MMP7 in biliary cancer. (PubMed id 19701966)1 Oka T....Shinomura Y. (World J. Gastroenterol. 2009)
    48. Human laminin-332 degradation by Candida proteinases. (PubMed id 18284540)1 PAornAonen P....Meurman J.H. (amp 2008)
    49. Expression and chain assembly of human laminin-332 in an insect cell-free translation system. (PubMed id 18603785)1 Phan H.P....Niimi T. (Biosci. Biotechnol. Biochem. 2008)
    50. ERp57 is essential for efficient folding of glycoproteins sharing common structural domains. (PubMed id 17170699)1 Jessop C.E....Bulleid N.J. (EMBO J. 2007)
    51. Laminin-332 (Laminin-5) is the major motility ligand for B cell chronic lymphocytic leukemia. (PubMed id 17482449)1 Spessotto P....Gattei V. (Matrix Biol. 2007)
    52. Laminin-5 activates extracellular matrix production and osteogenic gene focusing in human mesenchymal stem cells. (PubMed id 17137774)1 Klees R.F....Plopper G.E. (Matrix Biol. 2007)
    53. Laminin 5 regulates polycystic kidney cell proliferation and cyst formation. (PubMed id 16870608)1 Joly D....Knebelmann B. (J. Biol. Chem. 2006)
    54. Current insights into the formation and breakdown of hemidesmosomes. (PubMed id 16757171)1 Litjens S.H....Sonnenberg A. (Trends Cell Biol. 2006)
    55. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    56. Synthetic D-amino acid peptide inhibits tumor cell motility on laminin-5. (PubMed id 16537560)1 Sroka T.C....Cress A.E. (Carcinogenesis 2006)
    57. Uncoordinated production of Laminin-5 chains in airways epithelium of allergic asthmatics. (PubMed id 16179086)1 Amin K....Venge P. (Respir. Res. 2005)
    58. Recombinant human laminin-5 domains. Effects of heterotrimerization, proteolytic processing, and N-glycosylation on alpha3beta1 integrin binding. (PubMed id 14612440)1 KA1nneken K....Eble J.A. (J. Biol. Chem. 2004)
    59. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)
    60. Rotavirus enterotoxin NSP4 binds to the extracellular matrix proteins laminin-beta3 and fibronectin. (PubMed id 15331737)1 Boshuizen J.A....Einerhand A.W. (J. Virol. 2004)
    61. Fibroblasts contribute to the deposition of laminin 5 in the extracellular matrix. (PubMed id 15149852)1 Elkhal A....Aumailley M. (Exp. Cell Res. 2004)
    62. Laminin 5 beta3 and gamma2 chains are frequently coexpressed in cancer cells. (PubMed id 15363037)1 Akimoto S....Hirohashi S. (Pathol. Int. 2004)
    63. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
    64. 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. (PubMed id 12875969)1 Natarajan E....Rheinwald J.G. (Am. J. Pathol. 2003)
    65. Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus. (PubMed id 12802069)1 Fontao L.... Borradori L. (Mol. Biol. Cell 2003)
    66. Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly. (PubMed id 12482924)1 Koster J.... Sonnenberg A. (J. Cell Sci. 2003)
    67. Cell line-specific translation of two laminin 5 beta3 chain isoforms. (PubMed id 11867230)1 Hao J....Nagle R.B. (Gene 2002)
    68. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    69. 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. (PubMed id 11311202)1 McArthur C.P....Gustafson S. (Arch. Oral Biol. 2001)
    70. The tetraspan molecule CD151, a novel constituent of hemidesmosomes, associates with the integrin alpha6beta4 and may regulate the spatial organization of hemidesmosomes. (PubMed id 10811835)1 Sterk L.M....Sonnenberg A. (J. Cell Biol. 2000)
    71. Bone morphogenetic protein 1 is an extracellular processing enzyme of the laminin 5 gamma 2 chain. (PubMed id 10806203)1 Amano S....Burgeson R.E. (J. Biol. Chem. 2000)
    72. 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. (PubMed id 10637308)1 Hopkinson S.B. and Jones J.C. (Mol. Biol. Cell 2000)
    73. NC1 domain of type VII collagen binds to the beta3 chain of laminin 5 via a unique subdomain within the fibronectin-like repeats. (PubMed id 9989793)1 Chen M....Woodley D.T. (J. Invest. Dermatol. 1999)
    74. Two-hybrid analysis reveals multiple direct interactions for thrombospondin 1. (PubMed id 9840442)1 Aho S. and Uitto J. (Matrix Biol. 1998)
    75. Structural requirement for cell adhesion to kalinin (laminin-5). (PubMed id 7775432)1 Rousselle P....Aumailley M. (J. Biol. Chem. 1995)
    76. Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. (PubMed id 7706760)1 McGrath J.A....Uitto J. (J. Invest. Dermatol. 1995)
    77. Dystrophic Epidermolysis Bullosa (PubMed id 20301481)1 Pagon R.A....Stephens K. (1993)
    78. Junctional Epidermolysis Bullosa (PubMed id 20301304)1 Pagon R.A....Stephens K. (1993)
    79. Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. (PubMed id 9326326)9 Pulkkinen L....Uitto J. (Am. J. Hum. Genet. 1997)
    80. Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online. (PubMed id 10660342)9 Kon A....Uitto J. (Hum. Mutat. 1998)
    81. Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa. (PubMed id 9209887)9 Cserhalmi P.B....Karpati S. (Exp. Dermatol. 1997)
    82. Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. (PubMed id 8618058)9 McGarth J.A....Uitto J. (J. Invest. Dermatol. 1996)
    83. Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. (PubMed id 8618020)9 Christiano A.M....Uitto J. (J. Invest. Dermatol. 1996)
    84. Differential cytokine modulation of the genes LAMA3, LAMB3, and LAMC2, encoding the constitutive polypeptides, alpha 3, beta 3, and gamma 2, of human laminin 5 in epidermal keratinocytes. (PubMed id 7635220)9 Korang K....Mauviel A. (FEBS Lett. 1995)
    85. Mouse kalinin B1 (laminin beta 3 chain): cloning and tissue distribution. (PubMed id 7898049)9 Utani A....Yamada Y. ( a journal of technical methods and pathology 1995)
    86. Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa. (PubMed id 10951252)9 Takizawa Y....Shimizu H. (J. Invest. Dermatol. 2000)
    87. Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. (PubMed id 11023379)9 Nakano A....Uitto J. (J. Invest. Dermatol. 2000)
    88. Aberrant laminin beta3 isoforms downstream of EWS-ETS fusion genes in Ewing family tumors. (PubMed id 15846078)9 Irifune H....Tokino T. (amp 2005)
    89. Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay. (PubMed id 15311214)9 Buchroithner B....Bauer J.W. ( a journal of technical methods and pathology 2004)
    90. Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. (PubMed id 10949552)9 Cserhalmi-Friedman P.B....Christiano A.M. (Exp. Dermatol. 2000)
    91. LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels. (PubMed id 9690563)9 Pulkkinen L....Uitto J. ( a journal of technical methods and pathology 1998)
    92. Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene. (PubMed id 9583749)9 Cserhalmi-Friedman P.B....Christiano A.M. (Exp. Dermatol. 1998)
    93. Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa. (PubMed id 15663509)9 Fassihi H....McGrath J.A. (Clin. Exp. Dermatol. 2005)
    94. Aberrant promoter methylation and silencing of laminin-5-encoding genes in breast carcinoma. (PubMed id 14695139)9 Sathyanarayana U.G....Gazdar A.F. (Clin. Cancer Res. 2003)
    95. Aberrant promoter methylation of laminin-5-encoding genes in prostate cancers and its relationship to clinicopathological features. (PubMed id 14695140)9 Sathyanarayana U.G....Gazdar A.F. (Clin. Cancer Res. 2003)
    96. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. (PubMed id 10469327)9 McGrath J.A....Eady R.A. (J. Invest. Dermatol. 1999)
    97. Divergent mechanisms underlie Smad4-mediated positive regulation of the three genes encoding the basement membrane component laminin-332 (laminin-5). (PubMed id 18664273)9 Zboralski D....Schwarte-Waldhoff I. (BMC Cancer 2008)
    98. Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population. (PubMed id 17916201)9 Castori M....Castiglia D. (Br. J. Dermatol. 2008)
    99. Human papillomavirus type 16 reduces the expression of microRNA-218 in cervical carcinoma cells. (PubMed id 17998940)9 Martinez I....Khan S.A. (Oncogene 2008)
    100. Molecular detection of noninvasive and invasive bladder tumor tissues and exfoliated cells by aberrant promoter methylation of laminin-5 encoding genes. (PubMed id 14973053)9 Sathyanarayana U.G....Gazdar A.F. (Cancer Res. 2004)
    101. Elucidation of correspondence between swine chromosome 4 and human chromosome 1 by assigning 27 genes to the ImpRH map, and development of microsatellites in the proximity of 14 genes. (PubMed id 14571142)9 Hiraiwa H....Yasue H. (Cytogenet. Genome Res. 2003)
    102. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. (PubMed id 11907499)9 Nakano A....Sprecher E. (J. Am. Acad. Dermatol. 2002)
    103. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. (PubMed id 11810295)9 Nakano A....Uitto J. (Hum. Genet. 2002)
    104. Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects. (PubMed id 11451332)9 Hauschild R....Bruckner-Tuderman L. (J Eur Acad Dermatol Venereol 2001)
    105. LAMB3 gene transfection into SV40-transformed keratinocytes from patient with Herlitz junctional epidermolysis bullosa. (PubMed id 10836613)9 Masunaga T....Nishikawa T. (Arch. Dermatol. Res. 2000)
    106. Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. (PubMed id 9856852)9 Takizawa Y....Nishikawa T. (J. Invest. Dermatol. 1998)
    107. Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa. (PubMed id 9650620)9 Dellambra E....De Luca M. (Hum. Gene Ther. 1998)
    108. Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa. (PubMed id 9128767)9 Shimizu H....Nishikawa T. (Arch. Dermatol. Res. 1997)
    109. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. (PubMed id 7633458)9 Kivirikko S....Meneguzzi G. (Hum. Mol. Genet. 1995)
    110. Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. (PubMed id 7706759)9 Vailly J....Meneguzzi G. (J. Invest. Dermatol. 1995)
    111. Proteomic studies of cholangiocarcinoma and hepatocellular carcinoma cell secretomes. (PubMed id 20069059)9 Srisomsap C....Svasti J. (amp 2010)
    112. Herlitz junctional epidermolysis bullosa. (PubMed id 19945616)9 Laimer M....Bauer J.W. (Dermatol Clin 2010)
    113. Identification of hypermethylated genes associated with cisplatin resistance in human cancers. (PubMed id 20215521)9 Chang X....Sidransky D. (Cancer Res. 2010)
    114. Transcriptional patterns, biomarkers and pathways characterizing nasopharyngeal carcinoma of Southern China. (PubMed id 18570662)9 Fang W....Yao K. (J Transl Med 2008)
    115. Gene expression profiling distinguishes JAK2V617F-negative from JAK2V617F-positive patients in essential thrombocythemia. (PubMed id 18480837)9 Puigdecanet E....Florensa L. (Leukemia 2008)
    116. Prediction of human miRNAs using tissue-selective motifs in 3' UTRs. (PubMed id 18952845)9 Chang Y.M....Shih A.C. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    117. Development of a new tracking tool for the human monomeric laminin-gamma 2 chain in vitro and in vivo. (PubMed id 18199549)9 Koshikawa N....Seiki M. (Cancer Res. 2008)
    118. Association of DNA methylation and epigenetic inactivation of RASSF1A and beta-catenin with metastasis in small bowel carcinoid tumors. (PubMed id 17526942)9 Zhang H.Y....Lloyd R.V. (Endocrine 2006)
    119. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. (PubMed id 17115047)9 Mavilio F....De Luca M. (Nat. Med. 2006)
    120. [Junctional epidermolysis bullosa. Identification of a new mutation in two Lebanese families]. (PubMed id 16142104)9 Ayoub N....Meneguzzi G. (Ann Dermatol Venereol 2005)
    121. Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins. (PubMed id 15725250)9 Fassihi H....McGrath J.A. (Clin. Exp. Dermatol. 2005)
    122. Expression analysis of secreted and cell surface genes of five transformed human cell lines and derivative xenograft tumors. (PubMed id 15836779)9 Stull R.A....Chin D.J. (BMC Genomics 2005)
    123. Laminin-5 beta3A expression in LNCaP human prostate carcinoma cells increases cell migration and tumorigenicity. (PubMed id 15548355)9 Calaluce R....Nagle R.B. (Neoplasia 2004)
    124. Increase of laminin 5 synthesis in human keratinocytes by acute wound fluid, inflammatory cytokines and growth factors, and lysophospholipids. (PubMed id 15541073)9 Amano S....Nishiyama T. (Br. J. Dermatol. 2004)
    125. PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa. (PubMed id 12828862)9 Ortiz-Urda S....Khavari P.A. (Hum. Gene Ther. 2003)
    126. Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa. (PubMed id 14632187)9 Meng X....Pulkkinen L. (J. Invest. Dermatol. 2003)
    127. Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer. (PubMed id 12808440)9 Ortiz-Urda S....Khavari P.A. (Gene Ther. 2003)
    128. Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: a case report and review of the literature. (PubMed id 12447669)9 Bauer J....Garbe C. (Eur. J. Pediatr. 2002)
    129. Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa. (PubMed id 12366701)9 Cserhalmi-Friedman P.B....Christiano A.M. (Exp. Dermatol. 2002)
    130. Treatment of two patients with Herlitz junctional epidermolysis bullosa with artificial skin bioequivalents. (PubMed id 12378197)9 Jiang Q.J....Schneider H. (J. Pediatr. 2002)
    131. DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa. (PubMed id 11298117)9 Cserhalmi-Friedman P.B....Christiano A.M. (Clin. Exp. Dermatol. 2001)
    132. Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. (PubMed id 11564184)9 Castiglia D....Zambruno G. (J. Invest. Dermatol. 2001)
    133. Inhibition of laminin-5 production in breast epithelial cells by overexpression of p300. (PubMed id 10713141)9 Miller K.A....Weitzman S.A. (J. Biol. Chem. 2000)
    134. Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa. (PubMed id 10636730)9 Pulkkinen L....Uitto J. (J. Invest. Dermatol. 1999)
    135. Mutation analysis and molecular genetics of epidermolysis bullosa. (PubMed id 10367729)9 Pulkkinen L. and Uitto J. (Matrix Biol. 1999)
    136. [DNA-based prenatal diagnosis in epidermolysis bullosa]. (PubMed id 9451906)9 Cserhalmi-Friedman B.P....Christiano M.A. (Orv Hetil 1998)

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    Entrez Gene: 3914 HGNC: 6490 AceView: LAMB3 Ensembl:ENSG00000196878 euGenes: HUgn3914
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    PharmGKB entry for LAMB3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LAMB3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LAMB3[genesymbol]

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