Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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 ]
    Physical map
    TPD52L1 6q22-q23 tumor protein D52-like 1 C6orf74 6q13-q24.3 chromosome 6 open reading frame 74 LOC256096 6q22.33 hypothetical LOC256096 HEY2 6q22.2-q22.33 hairy/enhancer-of-split related with YRPW motif 2 NCOA7 6q22.33 nuclear receptor coactivator 7 HINT3 6q22.33 histidine triad nucleotide binding protein 3 C6orf75 6q11.1-q22.33 chromosome 6 open reading frame 75 LOC391968 6 similar to PPP1R14B protein LOC389426 6 LOC389426 LOC391969 6 similar to ribosomal protein S4, X-linked LOC389427 6 similar to MGC32805 protein THSD2 6q22.33 thrombospondin, type I, domain 2 RNF146 6q22.1-q22.33 ring finger protein 146 ECHDC1 6q22.33 enoyl Coenzyme A hydratase domain containing 1 LOC246737 6q23.1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene LOC389428 6 similar to ribosomal protein L5; 60S ribosomal protein L5 KIAA0408 6q22.33 KIAA0408 LOC389429 6 similar to RIKEN cDNA 2310057J18 MRPS17P5 6q22.33 mitochondrial ribosomal protein S17 pseudogene 5 PTPRK 6q22.2-q22.3 protein tyrosine phosphatase, receptor type, K LOC391970 6 similar to eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) LAMA2 6q22-q23 laminin, alpha 2 (merosin, congenital muscular dystrophy) LOC338470 6q22-q23 mesoderm specific transcript homolog (mouse) pseudogene ARHGAP18 6q23.1 Rho GTPase activating protein 18 C6orf191 6q23.1 chromosome 6 open reading frame 191 L3MBTL3 6q23 l(3)mbt-like 3 (Drosophila) SAMD3 6q23.1 sterile alpha motif domain containing 3 KIAA1913 6q23.1 KIAA1913 EPB41L2 6q23 erythrocyte membrane protein band 4.1-like 2 AKAP7 6q22-q23 a kinase (PRKA) anchor protein 7 ARG1 6q22.3-q23.1 arginase, liver CRSP3 6q22.33-q24.1 cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa ENPP3 6q22 ectonucleotide pyrophosphatase/phosphodiesterase 3 OR2A4 6q33-q35 olfactory receptor, family 2, subfamily A, member 4 ENPP1 6q22-q23 ectonucleotide pyrophosphatase/phosphodiesterase 1 CTGF 6q23.1 connective tissue growth factor MOXD1 6q22-q23 monooxygenase, DBH-like 1 STX7 6q22.3-q24 syntaxin 7 TAR3 6q23.1 trace amine receptor 3 GPR102 6q23.2 G protein-coupled receptor 102 TA4 6q23.1 trace amine receptor 4 PNR 6q23 putative neurotransmitter receptor
    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