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LAMC2 Gene

protein-coding   GIFtS: 69
GCID: GC01P183155

Laminin, Gamma 2

(Previous names: laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM60...)
(Previous symbols: EBR2, LAMB2T, LAMNB2, EBR2A)
  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)
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Aliases
Laminin, Gamma 21 2     Nicein Subunit Gamma2 3
LAMB2T1 2 3 5     CSF 140 KDa Subunit2 3
LAMNB21 2 3 5     Laminin, Gamma 2 (Nicein (100kD), Kalinin (105kD), BM600 (100kD), Herlitz
Junctional Epidermolysis Bullosa))1
EBR21 2     B2T2
EBR2A1 2     BM6002
Cell-Scattering Factor 140 KDa Subunit2 3     BM600-100kDa2
Epiligrin Subunit Gamma2 3     CSF2
Kalinin Subunit Gamma2 3     Laminin Subunit Gamma-22
Ladsin 140 KDa Subunit2 3     Kalinin/Nicein/Epiligrin 100 KDa Subunit3
Laminin B2t Chain2 3     Laminin-5 Subunit Gamma3
Large Adhesive Scatter Factor 140 KDa Subunit2 3     

External Ids:    HGNC: 64931   Entrez Gene: 39182   Ensembl: ENSG000000580857   OMIM: 1502925   UniProtKB: Q137533   

Export aliases for LAMC2 gene to outside databases

Previous GC identifers: GC01P180681 GC01P178583 GC01P179675 GC01P180394 GC01P179887 GC01P181422 GC01P154390


(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 LAMC2 Gene:
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement
membranes. They have been implicated in a wide variety of biological processes including cell adhesion,
differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical
chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure
consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each
laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been
described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin
isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1
heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely
unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably
reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2
chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain;
however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but
differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2
chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an
integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The
epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and
mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized
by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from
alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been
described. The two variants are differentially expressed in embryonic tissues, however, the biological
significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been
noted in literature. (provided by RefSeq, Aug 2011)

GeneCards Summary for LAMC2 Gene:
LAMC2 (laminin, gamma 2) is a protein-coding gene. Diseases associated with LAMC2 include lamc2-related junctional epidermolysis bullosa, and neuroschistosomiasis. GO annotations related to this gene include heparin binding. An important paralog of this gene is LAMC1.

UniProtKB/Swiss-Prot: LAMC2_HUMAN, Q13753
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. Ladsin exerts cell-scattering activity toward a wide variety of cells, including epithelial,
endothelial, and fibroblastic cells

Gene Wiki entry for LAMC2 (Laminin, gamma 2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LAMC2 gene promoter:
         CREB   AP-1   ATF-2   deltaCREB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLAMC2 promoter sequence
   Search Chromatin IP Primers for LAMC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LAMC2


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

Entrez Gene cytogenetic band: 1q25-q31   Ensembl cytogenetic band:  1q25.3   HGNC cytogenetic band: 1q25-q31

LAMC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMC2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P183155:  view genomic region     (about GC identifiers)

Start:
183,155,174 bp from pter      End:
183,214,262 bp from pter
Size:
59,089 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, 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., 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: LAMC2_HUMAN, Q13753 (See protein sequence)
Recommended Name: Laminin subunit gamma-2 precursor  
Size: 1193 amino acids; 130976 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. Gamma-2 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein)
Miscellaneous: Binds heparin (By similarity)
Secondary accessions: Q02536 Q02537 Q13752 Q14941 Q14DF7 Q5VYE8
Alternative splicing: 2 isoforms:  Q13753-1   Q13753-2   

Explore the universe of human proteins at neXtProt for LAMC2: NX_Q13753

Explore proteomics data for LAMC2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn342, Asn362, Thr762, Thr831, Thr886, Asn942, Asn1033
  • Modification sites at PhosphoSitePlus

  • See LAMC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005553.2  NP_061486.2  

    ENSEMBL proteins: 
     ENSP00000432063   ENSP00000264144  
    Reactome Protein details: Q13753

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

    3 InterPro protein domains:
     IPR018031 Laminin_B_subgr
     IPR000034 Laminin_B_type_IV
     IPR002049 EGF_laminin

    Graphical View of Domain Structure for InterPro Entry Q13753

    ProtoNet protein and cluster: Q13753

    1 Blocks protein domain: IPB000034 Laminin B

    UniProtKB/Swiss-Prot: LAMC2_HUMAN, Q13753
    Domain: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil
    structure
    Domain: Domain IV is globular
    Similarity: Contains 8 laminin EGF-like domains
    Similarity: Contains 1 laminin IV type A domain


    LAMC2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LAMC2_HUMAN, Q13753
    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. Ladsin exerts cell-scattering activity toward a wide variety of cells, including epithelial,
    endothelial, and fibroblastic cells

         Genatlas biochemistry entry for LAMC2:
    laminin ,gamma 2 polypeptide,component of cutaneous basement membrane zone,heterotrimerizing with laminin alpha 3
    and beta 3 in laminin 5 (kalinein/nicein)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008201heparin binding IEA--
         
    LAMC2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LAMC2:
     Increased gamma-H2AX phosphory 

         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Lamc2):
     behavior/neurological  craniofacial  digestive/alimentary  hearing/vestibular/ear  immune system 
     integument  limbs/digits/tail  mortality/aging  other  renal/urinary system 
     respiratory system  skeleton 

    LAMC2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Lamc2tm1Uit for LAMC2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LAMC2
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    miRNA
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    miRTarBase miRNAs that target LAMC2:
    hsa-mir-148b-3p (MIRT019261), hsa-mir-199b-5p (MIRT002944), hsa-mir-7-5p (MIRT025668)

    Block miRNA regulation of human, mouse, rat LAMC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LAMC2 (see all 26):
    hsa-miR-193a-3p hsa-miR-539 hsa-miR-29a hsa-miR-29c hsa-miR-128 hsa-miR-1260b hsa-miR-431 hsa-miR-342-3p
    SwitchGear 3'UTR luciferase reporter plasmidLAMC2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LAMC2

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMC2


    (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
    LAMC2_HUMAN, Q13753: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix ----
    GO:0005604basement membrane ----
    GO:0005607laminin-2 complex IEA--
    GO:0005610laminin-5 complex IEA--

    LAMC2 for ontologies           About GeneDecksing


    (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 LAMC2 About   (see all 17)  
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for LAMC2 (see all 14)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    CDK5 Pathway
    Transendothelial Migration of Leukocytes

    1 GeneGo (Thomson Reuters) Pathway for LAMC2
        Cell adhesion ECM remodeling

    3 BioSystems Pathways for LAMC2
        Focal Adhesion
    Alpha6-Beta4 Integrin Signaling Pathway
    Inflammatory Response Pathway

    Selected Reactome Pathways for LAMC2 (see all 6)
        Anchoring fibril formation
    Laminin interactions
    Type I hemidesmosome assembly
    Assembly of collagen fibrils and other multimeric structures
    Degradation of the extracellular matrix


    Selected Kegg Pathways  (Kegg details for LAMC2) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Toxoplasmosis
    Amoebiasis


    LAMC2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LAMC2
    Interactions:

        GeneGlobe Interaction Network for LAMC2

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

    Selected Interacting proteins for LAMC2 (Q137532, 3 ENSP000002641444) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDIA3P301012, 3MINT-4301490 I2D: score=1 
    NID1P145433, ENSP000002641874I2D: score=2 STRING: ENSP00000264187
    BMP1P134973, ENSP000003057144I2D: score=1 STRING: ENSP00000305714
    LAMA3Q167873, ENSP000003245324I2D: score=1 STRING: ENSP00000324532
    LAMA5O152303, ENSP000002529994I2D: score=1 STRING: ENSP00000252999
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0008544epidermis development TAS8012394
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0031581hemidesmosome assembly TAS--

    LAMC2 for ontologies           About GeneDecksing



    (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 LAMC2

    3 Novoseek inferred chemical compound relationships for LAMC2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kalinin 98.8 235 8377472 (12), 8138572 (10), 1365323 (6), 8306988 (5) (see all 66)
    p1e1 86.3 2 1401088 (1), 7551559 (1)
    gold 0 1 7967512 (1)



    LAMC2 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for LAMC2 gene (2 alternative transcripts): 
    NM_005562.2  NM_018891.2  

    Unigene Cluster for LAMC2:

    Laminin, gamma 2
    Hs.591484  [show with all ESTs]
    Unigene Representative Sequence: NM_005562
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493293(uc001gpz.4 uc010poa.2) ENST00000264144(uc001gqa.2)
    ENST00000461729 ENST00000476255
    miRNA
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    hsa-miR-193a-3p hsa-miR-539 hsa-miR-29a hsa-miR-29c hsa-miR-128 hsa-miR-1260b hsa-miR-431 hsa-miR-342-3p
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    Additional mRNA sequence: 

    AK296944.1 AK307945.1 BC112286.1 BC113378.1 BC143653.1 X73902.1 Z15008.1 Z15009.1 

    11 DOTS entries:

    DT.442299  DT.100790806  DT.97785584  DT.100790805  DT.121404854  DT.92450675  DT.92450676  DT.92450679 
    DT.95193128  DT.121404826  DT.99939412 

    Selected AceView cDNA sequences (see all 259):

    CA454441 BM972608 AI591171 AW517162 BU542251 BX479650 BG680971 AW275840 
    CK725027 BM971459 AW261864 AI201529 BQ017577 BM979594 BM981515 AI963034 
    AI927760 AI696993 BG319519 BM761321 BX284013 AW368738 BE711572 X73902 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for LAMC2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a ·
    SP1:                                                                                                                                      -                     
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            

    ExUns: 24b
    SP1:      
    SP2:      
    SP3:      


    ECgene alternative splicing isoforms for LAMC2

    (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)
    About This Section

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    LAMC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAACTTAGA
    LAMC2 Expression
    About this image


    LAMC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 6 entries
             Early Ameloblasts Dental Enamel
             Dental Enamel
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Epithelial Cells
             Early Ameloblasts Dental Enamel
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
    LAMC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LAMC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591484

    UniProtKB/Swiss-Prot: LAMC2_HUMAN, Q13753
    Tissue specificity: The large variant is expressed only in specific epithelial cells of embryonic and neonatal
    tissues. In 17-week old embryo the small variant is found in cerebral cortex, lung, and distal tubes of kidney,
    but not in epithelia except for distal tubuli

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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 animals.

    Orthologs for LAMC2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lamc21 , 5 laminin, gamma 21, 5 85.07(n)1
    84.87(a)1
      1 (65.26 cM)5
    167821  NM_008485.31  NP_032511.31 
     1531227565 
    chicken
    (Gallus gallus)
    Aves LAMC21 laminin, gamma 2 64.05(n)
    57.86(a)
      408043  XM_004943268.1  XP_004943325.1 
    lizard
    (Anolis carolinensis)
    Reptilia LAMC26
    laminin, gamma 2
    52(a)
    1 ↔ 1
    GL343203.1(4316352-4359462)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia lamc21 laminin, gamma 2 55.87(n)
    47.51(a)
      100489162  XM_002937367.2  XP_002937413.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5679281 laminin subunit gamma-2-like 48.56(n)
    35.6(a)
      567928  XM_003197884.2  XP_003197932.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta LanB26
    Laminin B2
    22(a)
    1 → many
    3L(9608014-9617080)
    worm
    (Caenorhabditis elegans)
    Secernentea lam-26
    Protein LAM-2 (lam-2) mRNA, complete cds
    20(a)
    1 → many
    X(7143918-7151235) WBGene00016913


    ENSEMBL Gene Tree for LAMC2 (if available)
    TreeFam Gene Tree for LAMC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LAMC2 gene
    LAMC12  LAMA52  LAMA12  LAMC32  LAMA42  LAMA32  LAMA22  USH2A2  
    LAMB42  LAMB22  LAMB12  
    3 SIMAP similar genes for LAMC2 using alignment to 2 protein entries:     LAMC2_HUMAN (see all proteins):
    LAMC1    LAMA3    LAMB4

    LAMC2 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), 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 LAMC2 (see all 1478)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs803566831,2
    Cpathogenic1189736018(+) GTGCTC/TGATGT 4 R * stg10--------
    rs2002565341,2
    C--154412823(-) ATCGTA/CANNNN 2 -- int10--------
    rs2005556601,2
    --154437356(+) CATAGC/TCCTAG 2 -- int10--------
    rs113869331,2
    C--183156637(+) AAAAA-/AGGTGG 2 -- int1 trp30--------
    rs113849541,2
    C--183160329(+) TTTTT-/A/TCCTGA 2 -- int1 trp31CSA 2
    rs588715551,2
    C--183160634(+) CTGACT/-TTTTT 2 -- int11Minor allele frequency- -:0.50NA 2
    rs1115632981,2
    F--183160822(+) ACCCTG/ATCTCT 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs57791581,2
    C--183160993(+) AAAAAA/-GAGAG 2 -- int1 trp32Minor allele frequency- -:0.25NA CSA 4
    rs105900191,2
    C--183162647(+) ATACA-/TACT  
            
    TACTG
    2 -- int11Minor allele frequency- TACT:0.00CSA 2
    rs113383761,2
    C--183167260(+) TTTTT-/TCTTTC 2 -- int1 trp30--------

    HapMap Linkage Disequilibrium report for LAMC2 (183155174 - 183214262 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for LAMC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33688CNV Loss17666407

    Human Gene Mutation Database (HGMD): LAMC2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LAMC2
    DNA2.0 Custom Variant and Variant Library Synthesis for LAMC2

    (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: 150292   
    OMIM disorders: 226700  226650  
    UniProtKB/Swiss-Prot: LAMC2_HUMAN, Q13753
  • 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

  • Selected diseases for LAMC2 (see all 82):    
    About MalaCards
    lamc2-related junctional epidermolysis bullosa    neuroschistosomiasis    junctional epidermolysis bullosa inversa    junctional epidermolysis bullosa, non-herlitz type
    junctional epidermolysis bullosa    junctional epidermolysis bullosa, herlitz type    cryptogenic organizing pneumonia    skin disease
    encephalitozoonosis    pseudotumor cerebri    epidermolysis bullosa acquisita    gallbladder adenocarcinoma
    epidermolysis bullosa    ovarian mucinous neoplasm    mucous membrane pemphigoid    cervical adenocarcinoma
    lichen planus    intracranial hypertension    cicatricial pemphigoid    actinic cheilitis

    1 disease from the University of Copenhagen DISEASES database for LAMC2:
    Epidermolysis bullosa

    LAMC2 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for LAMC2 gene (see all 40)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epidermolysis bullosa junctional 96.3 46 11564184 (3), 8554379 (3), 8113417 (2), 8012394 (2) (see all 26)
    lethal junctional epidermolysis bullosa 83.2 5 8377472 (2), 1401088 (1)
    epidermolysis bullosa 82.6 7 11279058 (1), 8012393 (1), 8063286 (1), 7963683 (1) (see all 6)
    pyloric atresia 76 2 7504435 (1)
    pemphigoid cicatricial 64.8 5 15908306 (1), 7561156 (1), 7551559 (1)
    pemphigoid bullous 64.8 7 7544906 (1), 8357788 (1), 8027584 (1), 8482332 (1) (see all 5)
    carcinoma squamous cell 61.2 27 16343183 (4), 10357399 (3), 17786338 (2), 15363037 (2) (see all 19)
    ehs tumor 61 1 7583007 (1)
    epidermolysis bullosa acquisita 59.5 1 7544906 (1)
    carcinoma 47.2 21 11860544 (3), 16232183 (2), 19047908 (1), 16152579 (1) (see all 16)

    GeneTests: LAMC2
    GeneReviews: LAMC2
    Genetic Association Database (GAD): LAMC2
    Human Genome Epidemiology (HuGE) Navigator: LAMC2 (1 document)

    Export disorders for LAMC2 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 LAMC2 gene, integrated from 10 sources (see all 279):
    (articles sorted by number of sources associating them with LAMC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment. (PubMed id 1383240)1, 2, 3 Kallunki P.... Tryggvason K. (J. Cell Biol. 1992)
    2. The 100-kDa chain of nicein/kalinin is a laminin B2 chain variant. (PubMed id 8306988)1, 2, 9 Vailly J.... Ortonne J.-P. (Eur. J. Biochem. 1994)
    3. Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1. (PubMed id 15370542)1, 4, 9 Hayashi M....Allikmets R. (Ophthalmic Genet. 2004)
    4. Structure of the human laminin gamma 2 chain gene (LAMC2): alternative splicing with different tissue distribution of two transcripts. (PubMed id 8786121)1, 2, 9 Airenne T.... Tryggvason K. (Genomics 1996)
    5. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PubMed id 21347282)1, 4 Lettre G....Boerwinkle E. (PLoS Genet. 2011)
    6. Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. (PubMed id 21408207)1, 4 Chung S.A....Criswell L.A. (PLoS Genet. 2011)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    8. A large cell-adhesive scatter factor secreted by human gastric carcinoma cells. (PubMed id 8265624)1, 2 Miyazaki K.... Umeda M. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    9. Converging signals synergistically activate the LAMC2 promoter and lead to accumulation of the laminin gamma 2 chain in human colon carcinoma cells. (PubMed id 12519076)1, 9 Olsen J....Simon-Assmann P. (Biochem. J. 2003)
    10. Overexpression of CDC25B and LAMC2 mRNA and protein in esophageal squamous cell carcinomas and premalignant lesions in subjects from a high-risk population in China. (PubMed id 18559558)1, 9 Shou J.Z....Taylor P.R. (amp 2008)

    (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: 3918 HGNC: 6493 AceView: LAMC2 Ensembl:ENSG00000058085 euGenes: HUgn3918
    ECgene: LAMC2 Kegg: 3918 H-InvDB: LAMC2

    (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 LAMC2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LAMC2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LAMC2[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 LAMC2 gene:
    Search GeneIP for patents involving LAMC2

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



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