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FLASH GENE
Symbol LAMA4 contributors: mct/npt - updated : 07-01-2014
HGNC name laminin, alpha 4
HGNC id 6484
Corresponding disease
CMD1JJ cardiomyopathy, dilated, 1JJ
Location 6q21      Physical location : 112.429.133 - 112.575.828
Synonym name
  • laminin-411 and -421
  • Laminin-8 subunit alpha
  • laminin-9 subunit alpha
  • laminin-14 subunit alpha
  • Synonym symbol(s) LAMA3, DKFZp686D23145
    DNA
    TYPE functioning gene
    STRUCTURE 146.79 kb     39 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map cen - NT5E - DDR1 - D6S1041 - AIM1 - SIM1 - D6S246 - NR2E1 - CD24 - D6S273 - CCNC - AMD1 - D6S1499 - REV3L - D6S404 - D6S302 - FOXO3 - LAMA4 - MARCKS - PRDM1 - ROS1 - HDAC2 - GJA1 - LAMA2 - MYB - ESR - qter
    Authors Karayianni (99)
    Physical map
    LOC391959 6 similar to calponin 2; Calonin 2 AMD1 6q21-q22 adenosylmethionine decarboxylase 1 LOC221269 6q22.1 similar to 28 kDa heat- and acid-stable phosphoprotein (PDGF-associated protein) (PAP) (PDGFA-associated protein 1) (PAP1) C6orf51 6q21 chromosome 6 open reading frame 51 BXDC1 6q22.1 brix domain containing 1 LOC221270 6q22.1 similar to glutathione transferase M2 SLC16A10 6q21-q22 solute carrier family 16 (monocarboxylic acid transporters), member 10 KIAA1919 6q22 KIAA1919 REV3L 6q21 REV3-like, catalytic subunit of DNA polymerase zeta (yeast) LOC51212 6q22.1 diferentiation-related protein dif13 C6orf4 6q21 chromosome 6 open reading frame 4 FYN 6q21 FYN oncogene related to SRC, FGR, YES WISP3 6q22-q23 WNT1 inducible signaling pathway protein 3 TUBE1 6q12 tubulin, epsilon 1 LAMA4 6q21 laminin, alpha 4 LOC345882 6q22.1 similar to Pin2-interacting protein X1 (TRF1-interacting protein 1) (Liver-related putative tumor suppressor) (67-11-3 protein) LOC221278 6q22.1 similar to ret finger protein-like 1 LOC391960 6 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) LOC345884 6q22.1 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC391961 6 similar to fem-1 homolog a (C.elegans) LOC389424 6 similar to Proliferation-associated protein 2G4 (Cell cycle protein p38-2G4 homolog) (hG4-1) LOC391962 6 similar to Cytokine inducible SH2-containing protein 5 (Suppressor of cytokine signaling 5) (SOCS-5) (Cytokine-inducible SH2 protein 6) (CIS-6)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    39 - 7287 - 1823 - 2002 12445830
    2 - 712 - 120 - 2002 12445830
    39 - 7266 - 1816 - 2002 12445830
    39 - 7283 - 1816 - 2002 12445830
    2 - 695 - 120 - 2002 12445830
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
     vessel   highly Homo sapiens
    Digestiveintestinelarge intestinecolon highly
    Nervousnervecranial nerve  highly
    Respiratoryrespiratory tracttrachea  highly
    Skin/Tegumentskin   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  predominantly
    Connectivebone  moderately
    Epithelialbarrier liningretinal pigment epithelium (RPE) moderately
    Muscularstriatumskeletal highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, neonatal, pregnancy
    Text umbilical cord at an highly level
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four laminin A/neurexin/sex hormone-binding (LNS) globular domains
  • multiple EGF-like motifs within the N terminal short arm allowing the self assembly of chains through interactions of the most terminal globular domain (VI)
  • a long arm composed of heptad repeats typical of a cell alpha helical coiled-coil protein
  • an integrin-interacting domain
  • five laminin G-like globular domains,binding to integrins and/or dystroglycan in the C terminal region
  • conjugated GlycoP
    mono polymer heteromer , monomer
    HOMOLOGY
    interspecies homolog to murine Lama4 (88.75 pc)
    Homologene
    FAMILY
    CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
    text
  • in the basement membranes (BMs)(major component)
  • localized in vascular BMs
  • basic FUNCTION
  • major noncollagenous constituent of basement membranes, mediating the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of cutaneous basement membrane zone, forming heteromeric molecule with a beta and a gamma chain
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMD1JJ
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    splicing variant with hexapeptide insertion in glioma and neuroblastoma
    constitutional germinal mutation      
    2 novel amino acid residue-altering mutations (2828C>T [Pro943Leu] and 3217C>T [Arg1073X]) in the integrin-interacting domain of the LAMA4 gene and 1 mutation (785C>T [Ala262Val]) in the ILK gene in dilated cardiomyopathy (Knoll 2007)
    tumoral     --over  
    in hepatocellular carcinomas, strongly correlated with tumor invasion, incomplete or no envelope and tumor bolt (Huang 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene probably a novel supplementary marker for HCC diagnosis
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    might be a molecular target in the future cancer therapy
    ANIMAL & CELL MODELS
  • mice lacking the presynaptic organizer Lama4 retained most of the synaptic cleft components but exhibited synaptic alterations reminiscent of those observed in aged animals
  • reduced ability of immune cells to penetrate the vessel wall in mice deficient in Lama4