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LAMA3 Gene

protein-coding   GIFtS: 66
GCID: GC18P021269

Laminin, Alpha 3

(Previous names: laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM60...)
(Previous symbol: LAMNA)
  See LAMA3-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, 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


(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 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. GO annotations related to this gene include structural molecule activity and receptor binding. An important paralog of this gene is LAMC1.

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


(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 at NCBI GenBank:
NC_000018.9  NC_018929.2  NT_010966.15  
Regulatory elements:
   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 Chromatin IP Primers for LAMA3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(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: 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)
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: 

  • Glycosylation2 at Asn745, Asn882, Asn964, Asn1131, Ser1355, Asn1477
  • Modification sites at PhosphoSitePlus

  • See LAMA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    LAMA3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for LAMA3
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    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.

     
    Search eBioscience for Proteins for LAMA3 

    LAMA3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for LAMA3 (Q16787, Q13753)
    Browse Antibodies at Cloud-Clone Corp.
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    LSBio Antibodies in human, mouse, rat for LAMA3

    LAMA3 Assay Products:

    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.
    Search eBioscience for ELISAs for LAMA3 


    (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

    Selected InterPro protein domains (see all 10):
     IPR018031 Laminin_B_subgr
     IPR000034 Laminin_B_type_IV
     IPR008211 Laminin_N
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G

    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


    Find genes that share domains with LAMA3           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: 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:    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 ----
         
    Find genes that share ontologies with LAMA3           About GenesLikeMe


    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/body  integument  mortality/aging 

    Find genes that share phenotypes with LAMA3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Lama3tm1Crt for LAMA3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LAMA3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
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    miRTarBase miRNAs that target LAMA3:
    hsa-mir-181a-5p (MIRT047318), hsa-mir-26b-5p (MIRT030215)

    Block miRNA regulation of human, mouse, rat LAMA3 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidLAMA3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LAMA3
    Predesigned siRNA for gene silencing in human, mouse, rat LAMA3

    Gene Editing
    Products:
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    Clone
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    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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    Browse ESI BIO Cell Lines and PureStem Progenitors for LAMA3 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMA3


    (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
    LAMA3_HUMAN, Q16787: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane3
    nucleus2
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1

    Gene Ontology (GO): 4 cellular component terms:    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--

    Find genes that share ontologies with LAMA3           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 LAMA3 About   (see all 20)  
    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 LAMA3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    Selected Reactome Pathways for LAMA3 (see all 7)
        Anchoring fibril formation
    ECM proteoglycans
    Laminin interactions
    Type I hemidesmosome assembly
    Assembly of collagen fibrils and other multimeric structures


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

        Pathway & Disease-focused RT2 Profiler PCR Array including LAMA3: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LAMA3

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

    Selected Interacting proteins for LAMA3 (Q167872, 3 ENSP000003245324) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    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): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007155cell adhesion IEA--
    GO:0007165signal transduction ----
    GO:0008544epidermis development TAS8586427
    GO:0022617extracellular matrix disassembly TAS--

    Find genes that share ontologies with LAMA3           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 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)



    Find genes that share compounds with LAMA3           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 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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    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 plasmidLAMA3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LAMA3
    Clone
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    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)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LAMA3
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for LAMA3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LAMA3
      QuantiTect SYBR Green Assays in human, mouse, rat LAMA3
      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 

    Selected 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


    (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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    LAMA3 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 7 entries
             Early Ameloblasts Dental Enamel
             Dental Enamel
     
     Epithelial Cells
             Early Ameloblasts Dental Enamel
     
     Lung (Respiratory System)
             Basal Cells Trachea
     
     Testis (Reproductive System)
             Elongated Spermatid Seminiferous Tubules
     
     Gonad
             Elongated Spermatid Seminiferous Tubules
    LAMA3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LAMA3 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including LAMA3: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for LAMA3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LAMA3
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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for LAMA3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lama31 , 5 laminin, alpha 31, 5 81.17(n)1
    78.68(a)1
      18 (6.20 cM)5
    167741  NM_010680.11  NP_034810.11 
     123340245 
    chicken
    (Gallus gallus)
    Aves LAMA31 laminin, alpha 3 63.47(n)
    57.27(a)
      428524  XM_004939788.1  XP_004939845.1 
    lizard
    (Anolis carolinensis)
    Reptilia LAMA36
    laminin, alpha 3
    55(a)
    1 ↔ 1
    4(37985524-38143246)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia lama31 laminin, alpha 3 59.01(n)
    50.58(a)
      100496680  XM_002934138.2  XP_002934184.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LAMA3 (1 of 2)6
    lama36
    laminin, alpha 3
    33(a)
    30(a)
    1 ↔ many
    1 ↔ many
    2(1128112-1169188) ENSDARG00000022615
    22(16605199-16622798) ENSDARG00000071462


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LAMA3 gene
    LAMC12  LAMA52  LAMC22  LAMA12  LAMC32  LAMA42  LAMA22  USH2A2  
    LAMB42  LAMB22  LAMB12  
    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

    Find genes that share paralogs with LAMA3           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 LAMA3 (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LAMA3
    DNA2.0 Custom Variant and Variant Library Synthesis for LAMA3

    (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: 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

  • 10 diseases for LAMA3:    
    About MalaCards
    laryngoonychocutaneous syndrome    lama3-related junctional epidermolysis bullosa    cardiomyopathy, dilated, 1jj    junctional epidermolysis bullosa
    maternal uniparental disomy of chromosome 1    subacute bacterial endocarditis    junctional epidermolysis bullosa, herlitz type    junctional epidermolysis bullosa, non-herlitz type
    epidermolysis bullosa acquisita    epidermolysis bullosa

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

    Find genes that share disorders with LAMA3           About GenesLikeMe

    Selected 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

    (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 LAMA3 gene, integrated from 10 sources (see all 175):
    (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. (J. Biol. Chem. 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. (Genomics 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. (Hum. Mol. Genet. 2003)
    4. Genetic risk for myocardial infarction in Japanese individuals with or without chronic kidney disease. (PubMed id 20372818)1, 4 Fujimaki T....Yamada Y. (Int. J. Mol. Med. 2010)
    5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    6. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    7. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)
    8. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 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. (J. Biol. Chem. 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. ( a journal of technical methods and pathology 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 3909 HGNC: 6483 AceView: LAMA3 Ensembl:ENSG00000053747 euGenes: HUgn3909
    ECgene: LAMA3 Kegg: 3909 H-InvDB: LAMA3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LAMA3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LAMA3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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