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LAMC3 Gene

protein-coding   GIFtS: 60
GCID: GC09P133884

Laminin, Gamma 3

  See LAMC3-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 31 2
Laminin-12 Subunit Gamma2 3
Laminin-14 Subunit Gamma2 3
Laminin-15 Subunit Gamma2 3
OCCM2 5
Laminin Subunit Gamma-32

External Ids:    HGNC: 64941   Entrez Gene: 103192   Ensembl: ENSG000000505557   OMIM: 6043495   UniProtKB: Q9Y6N63   

Export aliases for LAMC3 gene to outside databases

Previous GC identifers: GC09P124899 GC09P125431 GC09P127238 GC09P129160 GC09P130914 GC09P132874 GC09P103375


(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 LAMC3 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 are composed of 3 non identical
chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form 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 3. The gamma 3
chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a
component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive
tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve
penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung,
oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins
along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and
structural stability of the ciliated processes of these cells. (provided by RefSeq, Aug 2011)

GeneCards Summary for LAMC3 Gene:
LAMC3 (laminin, gamma 3) is a protein-coding gene. Diseases associated with LAMC3 include cortical malformations, occipital, and fatal familial insomnia. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is LAMC1.

UniProtKB/Swiss-Prot: LAMC3_HUMAN, Q9Y6N6
Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration
and organization of cells into tissues during embryonic development by interacting with other extracellular
matrix components

Gene Wiki entry for LAMC3 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_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LAMC3 gene promoter:
         TBP   N-Myc   MEF-2A   p53   MyoD   aMEF-2   ITF-2   Tal-1beta   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LAMC3


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

Entrez Gene cytogenetic band: 9q31-q34   Ensembl cytogenetic band:  9q34.12   HGNC cytogenetic band: 9q31-q34

LAMC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMC3 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P133884:  view genomic region     (about GC identifiers)

Start:
133,884,469 bp from pter      End:
133,969,860 bp from pter
Size:
85,392 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: LAMC3_HUMAN, Q9Y6N6 (See protein sequence)
Recommended Name: Laminin subunit gamma-3 precursor  
Size: 1575 amino acids; 171227 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-3 is a subunit of laminin-12 (laminin-213), laminin-14 (laminin-423) and
laminin-15 (laminin-523)
Sequence caution: Sequence=AAD36991.1; Type=Frameshift; Positions=598, 609;
Secondary accessions: B1APX9 B1APY0 Q59H72

Explore the universe of human proteins at neXtProt for LAMC3: NX_Q9Y6N6

Explore proteomics data for LAMC3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn87, Asn119, Asn295, Asn328, Asn631, Asn837, Asn980, Asn1185
  • Modification sites at PhosphoSitePlus

  • See LAMC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006050.3  
    ENSEMBL proteins: 
     ENSP00000354360   ENSP00000347627  
    Reactome Protein details: Q9Y6N6

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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

    4 InterPro protein domains:
     IPR000034 Laminin_B_type_IV
     IPR008211 Laminin_N
     IPR002049 EGF_laminin
     IPR008979 Galactose-bd-like

    Graphical View of Domain Structure for InterPro Entry Q9Y6N6

    ProtoNet protein and cluster: Q9Y6N6

    3 Blocks protein domains:
    IPB000034 Laminin B
    IPB002049 Laminin-type EGF-like domain
    IPB008212 Laminin


    UniProtKB/Swiss-Prot: LAMC3_HUMAN, Q9Y6N6
    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 11 laminin EGF-like domains
    Similarity: Contains 1 laminin IV type A domain
    Similarity: Contains 1 laminin N-terminal domain


    Find genes that share domains with LAMC3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: LAMC3_HUMAN, Q9Y6N6
    Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration
    and organization of cells into tissues during embryonic development by interacting with other extracellular
    matrix components

         Genatlas biochemistry entry for LAMC3:
    laminin ,gamma 3 polypeptide,prominent element of the apical surface of cialiated epithelial cells of
    lung,oviduct,epididymis,ductus deferens,seminiferous tubules,also component of cutaneous basement membrane
    zone,heterotrimerizing (laminin 12) with alpha 2 and beta 1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity TAS10225960
    GO:0005515protein binding ----
         
    Find genes that share ontologies with LAMC3           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lamc3):
     nervous system  vision/eye 

    Find genes that share phenotypes with LAMC3           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for LAMC3

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    (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
    LAMC3_HUMAN, Q9Y6N6: Secreted, extracellular space, extracellular matrix, basement membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix TAS10225960
    GO:0005604basement membrane IEA--
    GO:0016020membrane TAS10225960

    Find genes that share ontologies with LAMC3           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 LAMC3 About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    2Integrin 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
    3ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56
    5Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.35
    Laminin interactions0.35


    Find genes that share SuperPaths with LAMC3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for LAMC3 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    CDK5 Pathway
    Transendothelial Migration of Leukocytes

    1 BioSystems Pathway for LAMC3
        Focal Adhesion

    2 Reactome Pathways for LAMC3
        Laminin interactions
    Non-integrin membrane-ECM interactions


    Selected Kegg Pathways  (Kegg details for LAMC3) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Toxoplasmosis
    Amoebiasis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LAMC3
    Interactions:

        Search GeneGlobe Interaction Network for LAMC3

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

    Selected Interacting proteins for LAMC3 (Q9Y6N62, 3 ENSP000003543604) via UniProtKB, MINT, STRING, and/or I2D (see all 80)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LAMA4Q163633, ENSP000002305384I2D: score=1 STRING: ENSP00000230538
    LAMA5O152303, ENSP000002529994I2D: score=1 STRING: ENSP00000252999
    LAMA2P240433, ENSP000004003654I2D: score=1 STRING: ENSP00000400365
    ITGA6ENSP000003868964STRING: ENSP00000386896
    ITGB1ENSP000003640944STRING: ENSP00000364094
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000904cell morphogenesis involved in differentiation IEA--
    GO:0007155cell adhesion IEA--
    GO:0007601visual perception IEA--
    GO:0014002astrocyte development IEA--
    GO:0030198extracellular matrix organization TAS--

    Find genes that share ontologies with LAMC3           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 LAMC3



    (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 LAMC3 gene: 
    NM_006059.3  

    Unigene Cluster for LAMC3:

    Laminin, gamma 3
    Hs.201805  [show with all ESTs]
    Unigene Representative Sequence: NM_006059
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361069(uc004caa.1 uc010mze.1) ENST00000480883 ENST00000355452
    ENST00000462567
    miRNA
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    Additional mRNA sequence: 

    AB208887.1 AK075536.1 AL133595.1 

    2 DOTS entries:

    DT.91961659  DT.312334 

    Selected AceView cDNA sequences (see all 83):

    CR618197 AA909401 D31213 NM_006059 BM707145 BF343520 T17365 BU729072 
    BG830891 AA778091 BI770388 AW241582 CA433082 AI290116 AL551493 BQ027531 
    BU754408 BI161423 AA788921 CD655221 AI417217 AF041835 AI674744 R24218 

    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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    LAMC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGCCTCTG
    LAMC3 Expression
    About this image


    LAMC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Stem Cells Subcutaneous White Adipose
             HyStem+BMP4-induced 7SMOO32 cells
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Gonad
             Elongated Spermatid Seminiferous Tubules
    LAMC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LAMC3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.201805

    UniProtKB/Swiss-Prot: LAMC3_HUMAN, Q9Y6N6
    Tissue specificity: Broadly expressed in: skin, heart, lung, and the reproductive tracts

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    In Situ
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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 LAMC3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lamc31 , 5 laminin gamma 31, 5 78.88(n)1
    75.71(a)1
      2 (21.93 cM)5
    239281  NM_011836.31  NP_035966.21 
     318872915 
    chicken
    (Gallus gallus)
    Aves LAMC31 laminin, gamma 3 65.98(n)
    58.85(a)
      417180  XM_415462.4  XP_415462.4 
    zebrafish
    (Danio rerio)
    Actinopterygii lamc31 laminin, gamma 3 54.16(n)
    45.11(a)
      558958  XM_682251.6  XP_687343.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta LanB26
    Laminin B2
    35(a)
    1 → many
    3L(9608014-9617080)
    worm
    (Caenorhabditis elegans)
    Secernentea C54D1.53   -- 35(a)   X(7180191-7186397)   --


    ENSEMBL Gene Tree for LAMC3 (if available)
    TreeFam Gene Tree for LAMC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LAMC3 gene
    LAMC12  LAMA52  LAMC22  LAMA12  LAMA42  LAMA32  LAMA22  USH2A2  
    LAMB42  LAMB22  LAMB12  
    5 SIMAP similar genes for LAMC3 using alignment to 3 protein entries:     LAMC3_HUMAN (see all proteins):
    DKFZp434E202    LAMC1    LAMB4    NTN1    LAMA1

    Find genes that share paralogs with LAMC3           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 LAMC3 (see all 2399)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0664044
    Cortical malformations occipital (OCCM)4--see VAR_0664042 G R mis40--------
    rs352392331,2
    C--103376204(+) TCTCA-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs38372361,2
    C--103378098(-) tgtgt-/GTtCGCT 1 -- int10--------
    rs1391513571,2
    C--103400977(+) GATGA-/TTAT  
            
    TTATT
    1 -- int10--------
    rs114465691,2
    C--133883759(+) TTTTTT/-GTAGA 1 -- us2k1 tfbs31Minor allele frequency- -:0.00CSA 2
    rs20271731,2
    C,F--133885540(-) TTTTTG/TGAGAC 1 -- int1 trp33Minor allele frequency- T:0.50NA WA 6
    rs341533821,2
    C--133893107(+) AAAAA-/AGGCCA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs1155748971,2
    C,F--133895472(+) TACATC/TATTGC 1 -- us2k11Minor allele frequency- T:0.13WA 118
    rs791689951,2
    F--133895525(+) TTTTTA/TAAAAA 1 -- us2k11Minor allele frequency- T:0.13WA 118
    rs1137449951,2
    C,F--133895589(+) CTGCAA/TCCTCT 1 -- us2k12Minor allele frequency- T:0.10CSA WA 119

    HapMap Linkage Disequilibrium report for LAMC3 (133884469 - 133969860 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for LAMC3 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv893974CNV Loss21882294
    nsv415537CNV Loss16902084
    nsv893969CNV Loss21882294
    dgv8309n71CNV Loss21882294
    nsv893963CNV Loss21882294
    nsv831737CNV Loss17160897
    nsv831738CNV Loss17160897
    esv33161CNV Gain17666407
    nsv893973CNV Gain21882294
    esv33889CNV Gain17666407

    Human Gene Mutation Database (HGMD): LAMC3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LAMC3
    DNA2.0 Custom Variant and Variant Library Synthesis for LAMC3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 604349   
    OMIM disorders: 614115  
    UniProtKB/Swiss-Prot: LAMC3_HUMAN, Q9Y6N6
  • Cortical malformations occipital (OCCM) [MIM:614115]: A disease in which affected individuals develop
    seizures, sometimes associated with transient visual changes. Brain MRI shows both pachygyria and polymicrogyria
    restricted to the lateral occipital lobes. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 2 diseases for LAMC3:    
    About MalaCards
    cortical malformations, occipital    fatal familial insomnia


    Find genes that share disorders with LAMC3           About GenesLikeMe

    Genetic Association Database (GAD): LAMC3
    Human Genome Epidemiology (HuGE) Navigator: LAMC3 (4 documents)

    Export disorders for LAMC3 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

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    PubMed articles for LAMC3 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with LAMC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization and expression of the laminin gamma3 chain: a novel, non-basement membrane-associated, laminin chain. (PubMed id 10225960)1, 2, 3 Koch M.... Champliaud M.-F. (J. Cell Biol. 1999)
    2. Recessive LAMC3 mutations cause malformations of occipital cortical development. (PubMed id 21572413)1, 2 Barak T.... Gunel M. (Nat. Genet. 2011)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. Structural analysis and mutation detection strategy for the human LAMC3 gene. (PubMed id 11162474)1, 9 Cserhalmi-Friedman P.B....Christiano A.M. (Biochem. Biophys. Res. Commun. 2001)
    5. I^2 and I^3 laminins are critical cortical basement membrane components: ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia. (PubMed id 22961762)1 Radner S....Yee K.T. (Dev Neurobiol 2013)
    6. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    7. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    8. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (Genes Immun. 2010)
    9. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (Diabetes 2010)
    10. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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

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    Entrez Gene: 10319 HGNC: 6494 AceView: LAMC3 Ensembl:ENSG00000050555 euGenes: HUgn10319
    ECgene: LAMC3 Kegg: 10319 H-InvDB: LAMC3

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for LAMC3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LAMC3 Genetics and Cytogenetics in Oncology and Haematology

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

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    Patent Information for LAMC3 gene:
    Search GeneIP for patents involving LAMC3

    Licensable Technologies for LAMC3 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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