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

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)
About This Section

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

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 junctional epidermolysis bullosa, and junctional epidermolysis bullosa inversa, and among its related super-pathways are Syndecan interactions and Focal Adhesion. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for LAMC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13753

  • LAMC2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LAMC2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_005553.2  NP_061486.2  

    ENSEMBL proteins: 
     ENSP00000432063   ENSP00000264144  
    Reactome Protein details: Q13753
    Human Recombinant Protein Products for LAMC2: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LAMC2 

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

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

    LAMC2 for ontologies           About GeneDecksing



    LAMC2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    LAM: Laminins

    4 InterPro protein domains:
     IPR018031 Laminin_B_subgr
     IPR000034 Laminin_B_type_IV
     IPR009030 Growth_fac_rcpt_N_dom
     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,
    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: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for LAMC2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LAMC2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LAMC2 

    miRNA
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    miRTarBase miRNAs that target LAMC2:
    hsa-mir-199b-5p (MIRT002944)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LAMC2
    8/26 QIAGEN miScript miRNA 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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMC2


    (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 LAMC2 About   (see all 19)                                                                                              See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for LAMC2
        Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation

    5/14 Downloadable PowerPoint Slides of QIAGEN 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

    5/10        Reactome Pathways for LAMC2 (see all 10)
        Integrin cell surface interactions
    Assembly of collagen fibrils and other multimeric structures
    Collagen formation
    Anchoring fibril formation
    Extracellular matrix organization


    5/7         Kegg Pathways  (Kegg details for LAMC2) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Toxoplasmosis
    Amoebiasis


    LAMC2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LAMC2

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

    5/45 Interacting proteins for LAMC2 (Q137532, 3 ENSP000002641444) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0008544epidermis development TAS8012394
    GO:0030198extracellular matrix organization TAS--
    GO:0031581hemidesmosome assembly TAS--
    GO:0034329cell junction assembly TAS--

    LAMC2 for ontologies           About GeneDecksing



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

    LAMC2 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about LAMC2

    (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 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
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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 

    24/259 AceView cDNA sequences (see all 259):

    BM819086 BE049528 BM764333 AW261864 CK725027 BG679408 AI696993 AI679530 
    AW242192 BQ949998 AW197915 X73902 AI963034 BX284013 BE079167 BG680971 
    AW519011 AW517162 CA454832 BM849299 AI818357 AI828274 AI626103 BQ014425 

    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™, 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

    LAMC2 expression in normal human tissues (normalized intensities)      LAMC2 embryonic expression: see
    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 
     5/18 selected tissues (see all 18) fully expand
     
     Epithelium
             Human Bronchial Epithelial Cells (HBEpiC)   
             breast epithelium   
     
     Lung (Respiratory System)    fully expand to see all 6 entries
             Basal Cells Respiratory Bronchioles
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Renal Collecting Duct System
             Human Renal Mesangial Cells (HRMC)   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Human corneal endothelial cells
             Human Pulmonary Microvascular Endothelial Cells (HPMEC)   

    See LAMC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LAMC2

    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LAMC2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lamc21 , 5 laminin, gamma 21, 5 85.04(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 64.2(n)
    57.93(a)
      408043  XM_422285.3  XP_422285.3 
    lizard
    (Anolis carolinensis)
    Reptilia LAMC26
    Uncharacterized protein
    52(a)
    1 ↔ 1
    GL343203.1(4316352-4359462)
    zebrafish
    (Danio rerio)
    Actinopterygii LAMC26
    laminin, gamma 2
    33(a)
    1 ↔ 1
    2(35714224-35742453)
    fruit fly
    (Drosophila melanogaster)
    Insecta LanB26
    Laminin B2
    22(a)
    1 → many
    3L(9608014-9617080)
    worm
    (Caenorhabditis elegans)
    Secernentea lam-26
    Laminin-like protein lam-2
    20(a)
    1 → many
    X(7144265-7151235)


    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)
    About This Section
    Paralogs for LAMC2 gene
    LAMC12  NTN32  NTN42  LAMB32  NTN52  LAMC32  NTN12  NTNG12  
    USH2A2  NTNG22  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) 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

    10/1478 SNPs in LAMC2 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 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

  • 20/70 diseases for LAMC2 (see all 70):    About MalaCards
    junctional epidermolysis bullosa    junctional epidermolysis bullosa inversa    cryptogenic organizing pneumonia    lamc2-related junctional epidermolysis bullosa
    neuroschistosomiasis    skin disease    encephalitozoonosis    epidermolysis bullosa acquisita
    gallbladder adenocarcinoma    pseudotumor cerebri    epidermolysis bullosa    ovarian mucinous neoplasm
    mucous membrane pemphigoid    cervical adenocarcinoma    lichen planus    adenomyosis
    intracranial hypertension    cicatricial pemphigoid    oral lichen planus    oral squamous cell carcinoma

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

    LAMC2 for disorders           About GeneDecksing

    10/40 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)
    About This Section

    PubMed articles for LAMC2 gene, integrated from 9 sources (see all 274):
    (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. (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. (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. (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. (1996)
    5. Genome-wide association study of coronary heart disea se and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PubMed id 21347282)1, 4 Lettre G....Boerwinkle E. (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. (2011)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    8. A large cell-adhesive scatter factor secreted by human gastric carcinoma cells. (PubMed id 8265624)1, 2 Miyazaki K.... Umeda M. (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. (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. (2008)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3918 HGNC: 6493 AceView: LAMC2 Ensembl:ENSG00000058085 euGenes: HUgn3918
    ECgene: LAMC2 Kegg: 3918 H-InvDB: LAMC2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LAMC2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LAMC2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LAMC2

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