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FLASH GENE
Symbol LAMA2 contributors: mct - updated : 10-03-2015
HGNC name laminin, alpha 2
HGNC id 6482
Corresponding disease
MDC1A muscular dystrophy, congenital merosin-deficient 1A
Location 6q22.33      Physical location : 129.204.285 - 129.837.708
Synonym name
  • merosin
  • laminin M chain
  • merosin heavy chain
  • laminin-12 subunit alpha
  • laminin-4 subunit alpha
  • laminin-211 and -221
  • Synonym symbol(s) LAMM
    DNA
    TYPE functioning gene
    STRUCTURE 633.42 kb     65 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D6S283 - D6S1712 - D6S1639 - D6S1702 - D6S1715- D6S407 - [D6S1620 ] - D6S1705 - D6S1572 - D6S262 - D6S457 - qter
    Authors Helbling-Leclerc (95)
    Text [LAMA2 ]
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    65 - 9696 - 3118 - - 7535762
    62 - 9708 - 3122 - - 7535762
    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