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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 maternal uniparental disomy of chromosome 1, and lamb3-related junctional epidermolysis bullosa, and among its related super-pathways are Syndecan interactions and Focal Adhesion. GO annotations related to this gene include protein binding and structural molecule activity. An important paralog of this gene is LAMC1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for LAMB3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13751

  • LAMB3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LAMB3 Protein Expression
    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
    Human Recombinant Protein Products for LAMB3: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    LAMB3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    LAMB3 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS7550320
    GO:0005515protein binding IPI19275936
         
    LAMB3 for ontologies           About GeneDecksing


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

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lamb3):
     craniofacial  digestive/alimentary  integument  mortality/aging  respiratory system 

    LAMB3 for phenotypes           About GeneDecksing

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    hsa-miR-133a hsa-miR-133b hsa-miR-24
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LAMB3 About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.44
    Integrin cell surface interactions0.32
    ECM-receptor interaction0.42
    2Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    3Cell adhesion ECM remodeling
    Cell adhesion ECM remodeling0.31
    Metalloproteases in connective tissue degradation0.31
    4Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    5Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for LAMB3
        Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation

    5/14 Downloadable PowerPoint Slides of QIAGEN 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

    5/10        Reactome Pathways for LAMB3 (see all 10)
        Integrin cell surface interactions
    Assembly of collagen fibrils and other multimeric structures
    Collagen formation
    Anchoring fibril formation
    Extracellular matrix organization


    5/7         Kegg Pathways  (Kegg details for LAMB3) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Toxoplasmosis
    Amoebiasis


    LAMB3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for LAMB3

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

    5/44 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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0008544epidermis development TAS7774918
    GO:0030198extracellular matrix organization TAS--
    GO:0031581hemidesmosome assembly TAS--
    GO:0034329cell junction assembly TAS--

    LAMB3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    LAMB3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about LAMB3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/248 AceView cDNA sequences (see all 248):

    BE870001 BM560717 CB242603 CK904736 BM989217 AW079615 BQ687386 AI874210 
    BQ027535 AY035783 BM831118 AI696934 BM831008 AW338452 BQ691062 BG680183 
    BC075838 CA488872 BQ083941 CA453966 BQ918264 BM999909 BG681883 BG676026 

    GeneLoc Exon Structure

    5/17 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LAMB3 expression in normal human tissues (normalized intensities)      LAMB3 embryonic expression: see
    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 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             Midbrain   
     
     Epithelium
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Lung (Respiratory System)    fully expand to see all 5 entries
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Uncategorized (Uncategorized)    fully expand to see all 4 entries
             PureStem progenitor RP1-MV2-16
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             CD31, CD144 positive cells ( Two-step protocol for endothelial differentiation by...
             Human Pulmonary Microvascular Endothelial Cells (HPMEC)   

    See LAMB3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LAMB3

    SOURCE GeneReport for Unigene cluster: Hs.497636

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

        SABiosciences Expression via Pathway-Focused PCR Array including LAMB3: 
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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LAMB3 gene from 5/12 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 82.42(n)1
    82.71(a)1
      1 (97.71 cM)5
    167801  NM_008484.21  NP_032510.21 
     1933019575 
    chicken
    (Gallus gallus)
    Aves LAMB31 laminin, beta 3 62.06(n)
    53.24(a)
      428268  XM_425827.2  XP_425827.2 
    lizard
    (Anolis carolinensis)
    Reptilia LAMB36
    Uncharacterized protein
    52(a)
    1 ↔ 1
    4(125895133-125933194)
    fruit fly
    (Drosophila melanogaster)
    Insecta LanB16
    LanB1
    19(a)
    1 → many
    2L(7811440-7820771)
    worm
    (Caenorhabditis elegans)
    Secernentea lam-16
    Protein LAM-1
    18(a)
    1 → many
    IV(5173280-5183218)


    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)
    About This Section
    Paralogs for LAMB3 gene
    LAMC12  LAMC22  NTN32  NTN42  NTN52  LAMC32  NTN12  NTNG12  
    USH2A2  NTNG22  LAMB42  LAMB22  LAMB12  
    4 SIMAP similar genes for LAMB3 using alignment to 2 protein entries:     LAMB3_HUMAN (see all proteins):
    LAMB4    LAMB1    LAMB2    NTN4

    LAMB3 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1254 SNPs in LAMB3 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/23 diseases for LAMB3 (see all 23):    About MalaCards
    maternal uniparental disomy of chromosome 1    lamb3-related junctional epidermolysis bullosa    ewing's family of tumors    junctional epidermolysis bullosa
    epidermolysis bullosa    essential thrombocythemia    bullous pemphigoid    toxoplasmosis
    skin disease    nephrotic syndrome    non-small cell lung carcinoma    cervicitis
    esophageal squamous cell carcinoma    nasopharyngitis    cholangiocarcinoma    cervical cancer
    esophagitis    squamous cell carcinoma    colon cancer    prostatitis

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

    LAMB3 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for LAMB3 gene, integrated from 9 sources (see all 148):
    (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. (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. (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. (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. (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. (1994)
    6. Polymorphisms involved in the miR-218-LAMB3 pathway a nd susceptibility of cervical cancer, a case-control study in Chinese women. (PubMed id 20163849)1, 4, 9 Zhou X....Hu Z. (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. (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. (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. (2009)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3914 HGNC: 6490 AceView: LAMB3 Ensembl:ENSG00000196878 euGenes: HUgn3914
    ECgene: LAMB3 Kegg: 3914 H-InvDB: LAMB3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    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/sites/GeneTests/lab/gene/LAMB3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LAMB3 gene:
    Search GeneIP for patents involving LAMB3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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