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FLASH GENE
Symbol LAMA2 contributors: mct - updated : 10-03-2015
HGNC name laminin, alpha 2
HGNC id 6482
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal region of the LAMA2 chain promotes laminin assembly and cell adhesion
  • a 22 amino acids signal peptide (2.0 kDa)
  • four laminin A/neurexin/sex hormone-binding (LNS) globular domains separated by
  • 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
  • five globular domains, binding to integrins and/or dystroglycan in the C terminal region
    • mono polymer heteromer , trimer
    isoforms Precursor a 3100 amino acids mature peptide (341.9 kDa)
    HOMOLOGY
    interspecies homolog to rattus Lama2 (88.39 pc)
    homolog to murine Lama2 (87.75 pc)
    Homologene
    FAMILY
    CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
    text
  • constituent of cutaneous basement membrane (BM) zone
  • localized in the BMs of muscle and neurons
    • basic FUNCTION
  • mediating the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components
  • playing an essential role for odontoblast differentiation and regulating the expression of dentin matrix proteins
  • a role for CNS laminin is to promote the development of oligodendrocyte progenitors into myelin-forming oligodendrocytes via modulation of FYN regulatory molecules
  • activates focal adhesion kinase (PTK2) on glomerular podocytes
  • LAMA2-mediated PTK2 activation in podocytes is an important early event in Alport glomerular pathogenesis
    • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
  • complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma
  • LAMA2 is a subunit of laminin 2 (merosin), laminin 4 (S-merosin) and laminin 12
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to alpha dystroglycan, and coreceptor of mycobacterium leprae with alpha dystroglycan
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MDC1A
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    cytoplasmic XRCC6 in human LAMA2-deficient myotubes was both reduced in amount and more highly acetylated than in normal myotubes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS