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

LAMA3 Gene

protein-coding   GIFtS: 65
GCID: GC18P021269

Laminin, Alpha 3

(Previous names: laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM60...)
(Previous symbol: LAMNA)
  See related diseases
at
MalaCards
 

Aliases
for LAMA3 gene

(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, Alpha 31 2     E1702 3
LAMNA1 2 3     LOCS2 5
Laminin, Alpha 3 (Nicein (150kD), Kalinin (165kD), BM600 (150kD),
Epilegrin)1 2
     BM6002
Epiligrin 170 KDa Subunit2 3     BM600 150kD Subunit2
Epiligrin Subunit Alpha2 3     Epiligrin Alpha 3 Subunit2
Kalinin Subunit Alpha2 3     Kalinin 165kD Subunit2
Laminin-5 Subunit Alpha2 3     lama3a2
Laminin-6 Subunit Alpha2 3     Laminin Subunit Alpha-32
Laminin-7 Subunit Alpha2 3     Laminin-5 Alpha 3 Chain2
Nicein Subunit Alpha2 3     Nicein 150kD Subunit2

External Ids:    HGNC: 64831   Entrez Gene: 39092   Ensembl: ENSG000000537477   OMIM: 6008055   UniProtKB: Q167873   

Export aliases for LAMA3 gene to outside databases

Previous GC identifers: GC18P021345 GC18P021184 GC18P019521 GC18P019523 GC18P018125


Summaries
for LAMA3 gene

(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 LAMA3 Gene:
Laminins are basement membrane components thought to mediate the attachment, migration and organization of cells
into tissues during embryonic development by interacting with other extracellular matrix components. The protein
encoded by this gene is the alpha-3 subunit of laminin 5, which is a complex glycoprotein composed of three
subunits (alpha, beta, and gamma). Laminin 5 is thought to be involved in cell adhesion, signal transduction and
differentiation of keratinocytes. Mutations in this gene have been identified as the cause of Herlitz type
junctional epidermolysis bullosa. Alternatively spliced transcript variants encoding different isoforms have been
identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for LAMA3 Gene: 
LAMA3 (laminin, alpha 3) is a protein-coding gene. Diseases associated with LAMA3 include laryngoonychocutaneous syndrome, and lama3-related junctional epidermolysis bullosa, and among its related super-pathways are ECM-receptor interaction and Focal Adhesion. GO annotations related to this gene include structural molecule activity and receptor binding. An important paralog of this gene is LAMA5.

UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787
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
Function: Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in focal adhesion
and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine phosphorylation of pp125-FAK
and p80, (3) differentiation of keratinocytes

Gene Wiki entry for LAMA3 (Laminin, alpha 3) Gene


Genomic Views
for LAMA3 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_000018.9  NC_018929.2  NT_010966.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LAMA3 gene promoter:
         E2F-3a   E2F-4   E2F-5   Olf-1   E2F-2   E4BP4   PPAR-alpha   E2F-1   E2F   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): LAMA3 promoter sequence
   Search SABiosciences Chromatin IP Primers for LAMA3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LAMA3


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

Entrez Gene cytogenetic band: 18q11.2   Ensembl cytogenetic band:  18q11.2   HGNC cytogenetic band: 18q11.2

LAMA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMA3 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P021269:  view genomic region     (about GC identifiers)

Start:
 21,269,407 bp from pter      End:
 21,535,030 bp from pter
Size:
 265,624 bases      Orientation:
 plus strand

Proteins
for LAMA3 gene

(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: LAMA3_HUMAN, Q16787 (See protein sequence)
Recommended Name: Laminin subunit alpha-3 precursor  
Size: 3333 amino acids; 366649 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. Alpha-3 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein),
laminin-6 (laminin-311 or K-laminin) and laminin-7 (laminin-321 or KS-laminin)
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component
Secondary accessions: Q13679 Q13680 Q6VU67 Q6VU68 Q6VU69 Q76E14 Q96TG0
Alternative splicing: 4 isoforms:  Q16787-2   Q16787-1   Q16787-3   Q16787-4   

Explore the universe of human proteins at neXtProt for LAMA3: NX_Q16787

Explore proteomics data for LAMA3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16787

    • LAMA3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LAMA3 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_000218.2  NP_001121189.1  NP_001121190.1  NP_937762.1  

    ENSEMBL proteins: 
     ENSP00000324532   ENSP00000468316   ENSP00000382432   ENSP00000467662   ENSP00000269217  
     ENSP00000466557   ENSP00000464836   ENSP00000467473   ENSP00000466658   ENSP00000468315  
    Reactome Protein details: Q16787
    Human Recombinant Protein Products for LAMA3: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for LAMA3
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for LAMA3
    GenScript Custom Purified and Recombinant Proteins Services for LAMA3
    Novus Biologicals LAMA3 Protein
    Novus Biologicals LAMA3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005604basement membrane TAS8586427
    GO:0005606laminin-1 complex IEA--
    GO:0005610laminin-5 complex IEA--

    LAMA3 for ontologies           About GeneDecksing



    LAMA3 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals LAMA3 Antibodies
    Abcam antibodies for LAMA3
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    LSBio Antibodies in human, mouse, rat for LAMA3 

    Assay Products for LAMA3: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.

    Protein Domains /
    Families
    for LAMA3 gene

    (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

    5/11 InterPro protein domains (see all 11):
     IPR018031 Laminin_B_subgr
     IPR000034 Laminin_B_type_IV
     IPR008211 Laminin_N
     IPR013320 ConA-like_subgrp
     IPR009030 Growth_fac_rcpt_N_dom

    Graphical View of Domain Structure for InterPro Entry Q16787

    ProtoNet protein and cluster: Q16787

    2 Blocks protein domains:
    IPB001791 Laminin G
    IPB009254 Laminin I


    UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787
    Domain: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil
    structure
    Domain: Domain G is globular
    Similarity: Contains 15 laminin EGF-like domains
    Similarity: Contains 5 laminin G-like domains
    Similarity: Contains 1 laminin IV type A domain
    Similarity: Contains 1 laminin N-terminal domain


    LAMA3 for domains           About GeneDecksing


    Function
    for LAMA3 gene

    (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: LAMA3_HUMAN, Q16787
    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
    Function: Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in focal adhesion
    and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine phosphorylation of pp125-FAK
    and p80, (3) differentiation of keratinocytes
    Induction: Laminin-5 is up-regulated in wound sites of human skin

         Genatlas biochemistry entry for LAMA3:
    laminin,alpha 3 polypeptide,heterotrimerizing with laminin beta 3 and gamma 2 in laminin 5
    (kalinin/nicein),component of cutaneous basement membrane zone

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0004871signal transducer activity ----
    GO:0005102receptor binding IEA--
    GO:0005198structural molecule activity NAS8586427
    GO:0005515protein binding ----
         
    LAMA3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LAMA3:
     Decreased number of cells in m 

         5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Lama3):
     craniofacial  digestive/alimentary  growth/size  integument  mortality/aging 

    LAMA3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Lama3tm1Crt for LAMA3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LAMA3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LAMA3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LAMA3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LAMA3 

    miRNA
    Products:            		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LAMA3
    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate LAMA3 (see all 23):
    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-302e hsa-miR-520a-3p hsa-miR-372 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmid: LAMA3 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for LAMA3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LAMA3

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for LAMA3


    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for LAMA3 (see all 17)
    OriGene ORF clones in mouse, rat for LAMA3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): LAMA3 (NM_000227)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LAMA3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LAMA3

    Cell Line
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    Search LifeMap BioReagents cell lines for LAMA3
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMA3


    Pathways & Interactions
    for LAMA3 gene

    (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 LAMA3 About   (see all 21)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Non-integrin membrane-ECM interactions
    		Non-integrin membrane-ECM interactions0.44
    		ECM proteoglycans0.38
    		ECM-receptor interaction0.42
    		Integrin cell surface interactions0.32
    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 LAMA3
        Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation

    5/14 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LAMA3 (see all 14)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    CDK5 Pathway
    Transendothelial Migration of Leukocytes

    1 GeneGo (Thomson Reuters) Pathway for LAMA3
        Cell adhesion ECM remodeling

    5 BioSystems Pathways for LAMA3
        Focal Adhesion
    Alpha6-Beta4 Integrin Signaling Pathway
    Syndecan-2-mediated signaling events
    Syndecan-4-mediated signaling events
    Validated transcriptional targets of AP1 family members Fra1 and Fra2

    5/11        Reactome Pathways for LAMA3 (see all 11)
        Integrin cell surface interactions
    Assembly of collagen fibrils and other multimeric structures
    Collagen formation
    Anchoring fibril formation
    ECM proteoglycans


    5/7         Kegg Pathways  (Kegg details for LAMA3) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Toxoplasmosis
    Amoebiasis


    LAMA3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LAMA3

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

    5/42 Interacting proteins for LAMA3 (Q167872, 3 ENSP000003245324) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC35E1Q96K372, 3, ENSP000003871524MINT-64295 I2D: score=3 STRING: ENSP00000387152
    APCP250543, ENSP000002574304I2D: score=3 STRING: ENSP00000257430
    LAMB3Q137513, ENSP000003483844I2D: score=2 STRING: ENSP00000348384
    BMP1P134973, ENSP000003057144I2D: score=1 STRING: ENSP00000305714
    LAMB1P079423, ENSP000002223994I2D: score=1 STRING: ENSP00000222399
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007155cell adhesion IEA--
    GO:0007165signal transduction ----
    GO:0008544epidermis development TAS8586427
    GO:0030155regulation of cell adhesion IEA--

    LAMA3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for LAMA3 gene

    (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

    LAMA3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LAMA3

    1 Novoseek inferred chemical compound relationship for LAMA3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kalinin 81.5 3 7573357 (1), 15953081 (1), 7635220 (1)

    Search CenterWatch for drugs/clinical trials and news about LAMA3

    Transcripts
    for LAMA3 gene

    (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 LAMA3 gene (4 alternative transcripts): 
    NM_000227.3  NM_001127717.1  NM_001127718.1  NM_198129.1  

    Unigene Cluster for LAMA3:

    Laminin, alpha 3
    Hs.436367  [show with all ESTs]
    Unigene Representative Sequence: NM_198129
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000313654(uc002kuq.3) ENST00000585600 ENST00000399516(uc010dlv.2 uc002kur.3)
    ENST00000591749 ENST00000592519 ENST00000269217(uc002kus.4 uc002kut.4)
    ENST00000587184 ENST00000586751 ENST00000588770 ENST00000586709 ENST00000588164
    ENST00000592442 ENST00000590104 ENST00000588004
    miRNA
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    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate LAMA3 (see all 23):
    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-302e hsa-miR-520a-3p hsa-miR-372 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmid: LAMA3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for LAMA3
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LAMA3

    Additional mRNA sequence: 

    AB208853.1 AK096422.1 AY327114.1 AY327115.1 AY327116.1 BC033663.1 BC043618.1 BC093406.1 
    L34155.1 L34156.1 X84392.1 X84900.1 X85107.1 X85108.1 

    9 DOTS entries:

    DT.92448000  DT.95243961  DT.100754621  DT.92068550  DT.101971561  DT.99933393  DT.100016938  DT.95243939 
    DT.95243955 

    24/165 AceView cDNA sequences (see all 165):

    BI335805 BP354564 BX101940 W67580 AU140779 CA392258 AY327114 BC043618 
    AI129128 BP353642 NM_198129 AY327116 NM_000227 CA446402 L34155 CA423430 
    AI567045 AK024889 AY327115 CA427431 AL708055 BX114291 CR621377 BG677741 

    GeneLoc Exon Structure


    Expression
    for LAMA3 gene

    (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

    LAMA3 expression in normal human tissues (normalized intensities)      LAMA3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTATTTTAT
    LAMA3 Expression
    About this image


    LAMA3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Epithelium
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Oral Cavity (Integumentary System)    fully expand to see all 3 entries
             Human Oral Keritinocytes (HOK)   
             mouth   
     
     Epidermis (Integumentary System)    fully expand to see all 2 entries
             Human EpiDermal Keratinocytes (HEK)   
     
     Endothelium (Respiratory System)    fully expand to see all 2 entries
             Human Pulmonary Microvascular Endothelial Cells (HPMEC)   

    See LAMA3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LAMA3

    SOURCE GeneReport for Unigene cluster: Hs.436367

    UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787
    Tissue specificity: Skin; respiratory, urinary, and digestive epithelia and in other specialized tissues with
    prominent secretory or protective functions. Epithelial basement membrane, and epithelial cell tongue that
    migrates into a wound bed. A differential and focal expression of the subunit alpha-3 is observed in the CNS

        SABiosciences Expression via Pathway-Focused PCR Array including LAMA3: 
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    Orthologs
    for LAMA3 gene

    (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 chordates.

    Orthologs for LAMA3 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Lama31 , 5 laminin, alpha 31, 5 80.8(n)1
    78.13(a)1    		   18 (6.20 cM)5
    167741  NM_010680.11  NP_034810.11 
     123340245 
    chicken
    (Gallus gallus)    		 Aves LAMA31 laminin, alpha 3 64.95(n)
    58.71(a)    		   428524  XM_426078.3  XP_426078.3 
    lizard
    (Anolis carolinensis)    		 Reptilia LAMA36
    		 laminin, alpha 3
    		 55(a)
    		 1 ↔ 1
    		 4(37985524-38143246)


    ENSEMBL Gene Tree for LAMA3 (if available)
    TreeFam Gene Tree for LAMA3 (if available)

    Paralogs
    for LAMA3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LAMA3 gene
    LAMA52  LAMA22  MEGF92  LAMA12  LAMA42  
    12 SIMAP similar genes for LAMA3 using alignment to 12 protein entries:     LAMA3_HUMAN (see all proteins):
    LamA3    LAMA5    MEGF9    HSPG2    LAMA2    LAMA4
    LAMA1    ATRNL1    LAMC2    NTN1    LAMB2    LAMA4*-1

    LAMA3 for paralogs           About GeneDecksing



    Genomic Variants
    for LAMA3 gene

    (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

    10/5024 SNPs in LAMA3 are shown (see all 5024)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1125728001,2
    		C--18153164(+) GCTAAA/TTTTTT 2 -- int10--------
    rs58234031,2
    		C,F--18268810(+) TTATT-/A/TAAA
                AAAAA     		2 -- int1 trp33NA CSA 6
    rs1122621111,2
    		F--18305618(+) ATGGCG/AAAACC 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1132146201,2
    		C--18325122(+) GAAGGA/GAGGAA 4 -- int10--------
    rs353014521,2
    		C--18347756(+) TTTTTT/-GAGAC 4 -- int11Minor allele frequency- -:0.00NA 2
    rs114483571,2
    		C--18351651(+) AAAAGA/-AAAAG 4 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs99529331,2
    		C--18351662(+) AAAAGA/GAAAAG 4 -- int1 trp30--------
    rs347522621,2
    		C,F--18351663(+) AAAAGA/-AAAAG 4 -- int12Minor allele frequency- -:0.50NA 4
    rs1435487541,2
    		C--18351663(+) AAAGA-/AAAAG 
                AAAAG     		4 -- int10--------
    rs342775411,2
    		C--18352614(+) GGTAA-/TTTTTT 4 -- int11Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for LAMA3 (21269407 - 21519407 bp, first 250kb of LAMA3)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for LAMA3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2664111CNV Deletion23128226
    esv2556502CNV Deletion19546169
    esv2671824CNV Deletion23128226
    esv2716865CNV Deletion23290073
    esv2657446CNV Deletion23128226
    esv2839CNV Deletion18987735
    esv2716866CNV Deletion23290073
    nsv2228CNV Insertion18451855


    Human Gene Mutation Database (HGMD): LAMA3
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for LAMA3 gene

    (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: 600805   
    OMIM disorders: 226700  226650  245660  
    UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787
  • 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
  • Laryngoonychocutaneous syndrome (LOCS) [MIM:245660]: Autosomal recessive epithelial disorder confined to
    the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystrophy and exuberant
    vascular granulation tissue in certain epithelia, especially conjunctiva and larynx. Note=The disease is caused
    by mutations affecting the gene represented in this entry

    • 20/38 diseases for LAMA3 (see all 38):    About MalaCards
    laryngoonychocutaneous syndrome    lama3-related junctional epidermolysis bullosa    junctional epidermolysis bullosa    maternal uniparental disomy of chromosome 1
    presbyopia    epidermolysis bullosa acquisita    epidermolysis bullosa    cicatricial pemphigoid
    senile cataract    crescentic glomerulonephritis    endocervicitis    congenital muscular dystrophy
    malignant peripheral nerve sheath tumor    bullous pemphigoid    skin disease    toxoplasmosis
    spinal cord injury    myopia    glomerulonephritis    cataract

    4 diseases from the University of Copenhagen DISEASES database for LAMA3:
    Epidermolysis bullosa     Senile cataract     Myopia     Glaucoma

    LAMA3 for disorders           About GeneDecksing

    10/14 Novoseek inferred disease relationships for LAMA3 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epidermolysis bullosa junctional 96.5 15 9759651 (2), 8530087 (2), 10469327 (1), 12915477 (1) (see all 13)
    lethal junctional epidermolysis bullosa 84.7 1 9027848 (1)
    epidermolysis bullosa 78.1 1 7550237 (1)
    pemphigoid cicatricial 72.9 1 12746470 (1)
    epidermolysis bullosa acquisita 62 2 10677099 (1), 12746470 (1)
    skin diseases 50.8 7 8618058 (1), 9759651 (1), 8618020 (1), 8530087 (1) (see all 7)
    pemphigoid bullous 40.2 1 12746470 (1)
    carcinoma squamous cell 17 1 11267939 (1)
    necrosis 0 1 7635220 (1)
    breast cancer 0 5 11551969 (3), 14695139 (2)

    GeneTests: LAMA3
    GeneReviews: LAMA3
    Genetic Association Database (GAD): LAMA3
    Human Genome Epidemiology (HuGE) Navigator: LAMA3 (9 documents)

    Export disorders for LAMA3 gene to outside databases

    Publications
    for LAMA3 gene

    (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 LAMA3 gene, integrated from 9 sources (see all 174):
    (articles sorted by number of sources associating them with LAMA3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the LamA3 gene encoding the alpha 3 chain of the adhesive ligand epiligrin. Expression in wound repair. (PubMed id 8077230)1, 2, 3, 9 Ryan M.C.... Carter W.G. (1994)
    2. Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa. (PubMed id 8586427)1, 2, 9 Vidal F.... Meneguzzi G. (1995)
    3. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. (PubMed id 12915477)1, 2, 9 McLean W.H.I.... McGrath J.A. (2003)
    4. Genetic risk for myocardial infarction in Japanese in dividuals with or without chronic kidney disease. (PubMed id 20372818)1, 4 Fujimaki T....Yamada Y. (2010)
    5. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    6. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (2010)
    7. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (2009)
    8. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (2009)
    9. Characterization of laminin 5B and NH2-terminal proteolytic fragment of its alpha3B chain: promotion of cellular adhesion, migration, and proliferation. (PubMed id 15044476)1, 2 Kariya Y....Miyazaki K. (2004)
    10. Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa. (PubMed id 9759651)1, 9 Pulkkinen L....Christiano A.M. (1998)

    External Searches for LAMA3 gene

    (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)

    Genome Databases showing LAMA3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3909 HGNC: 6483 AceView: LAMA3 Ensembl:ENSG00000053747 euGenes: HUgn3909
    ECgene: LAMA3 Kegg: 3909 H-InvDB: LAMA3

    Other Databases showing LAMA3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing LAMA3 gene

    (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 LAMA3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LAMA3

    Intellectual Property
    for LAMA3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for LAMA3 gene:
    Search GeneIP for patents involving LAMA3

    Licensable Technologies for LAMA3 gene:
     Tufts University:  Laminins and their functions in nervous systems
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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