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FLASH GENE
Symbol LAMA2 contributors: mct - updated : 10-03-2015
HGNC name laminin, alpha 2
HGNC id 6482
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Endocrineadrenal gland   highly
 neuroendocrinepituitary  highly
Hearing/Equilibriumearinnercochlea predominantly
Nervousnervecranial nerve  highly
Reproductivefemale systemplacenta  moderately
 female systemuterus  moderately
Respiratoryrespiratory tractlarynx  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  moderately
Epithelialbarrier liningretinal pigment epithelium (RPE) lowly
Muscularstriatumcardiac moderately Homo sapiens
Muscularstriatumskeletal moderately Homo sapiens
Nervousperipherous  moderately
cells
SystemCellPubmedSpeciesStageRna symbol
Digestiveodontoblast
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text dental mesenchyme
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