LAMA2 Gene Summary [Human]

Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
LAMA2
Official Name
laminin subunit alpha 2 [Source:HGNC Symbol;Acc:HGNC:6482]
Ensembl ID
ENSG00000196569
Bio databases IDs NCBI: 3908 Ensembl: ENSG00000196569
Aliases laminin subunit alpha 2, merosin, congenital muscular dystrophy
Synonyms 5830440B04, dy, laminin, alpha 2, Laminin M, Laminin M chain, laminin subunit alpha 2, laminin subunit α 2, Laminin α 2, laminin, α 2, LAMM, MDC1A, mer, merosin, mKIAA4087
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LAMA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Phage minor structural protein GP20
  • Laminin B (Domain IV)
  • Synaptonemal complex protein 1 (SCP-1)
  • Coiled-coiled domain of autophagy-related 16 (Atg16) family proteins
  • Autophagy protein ATG17-like domain
  • helix-rich Mycoplasma protein
  • Tektin family
  • Laminin Domain II
  • EGF_CA
  • Laminin Domain I
  • Laminin-type epidermal growth factor-like domai
  • Tropomyosin
  • Chromatin assembly factor 1 complex p150 subunit, N-terminal
  • Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
  • HOOK protein coiled-coil region
  • laminin G domain
  • SPEC
  • Laminin N-terminal (Domain VI)
  • Giardia variant-specific surface protein
  • Weak chloroplast movement under blue light
  • LamG
  • Tropomyosin like
  • Ezrin/radixin/moesin, alpha-helical domain
  • 4-helix bundle ligand binding sensor domain of chemoreceptors such as Tar or Tsr
  • Four helix bundle sensory module for signal transduction
  • Domain of unknown function (DUF4795)
  • protein binding
  • Tumor necrosis factor receptor superfamily (TNFRSF)
  • SF-assemblin/beta giardin
  • laminin-G repeat
  • Spectrin repeats
  • Mechanosensitive ion channel porin domain
  • Methyl-accepting chemotaxis-like domains (chemotaxis sensory transducer)
  • Methyl-accepting chemotaxis protein (MCP), signaling domain
  • ClyA-like
  • structural molecule
  • Apolipoprotein A1/A4/E domain
  • Laminin EGF domain

Pathways

Biological processes and signaling networks where the LAMA2 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • uterine leiomyoma
  • pain
  • neoplasia
  • congenital muscular dystrophy due to merosin deficiency
  • refractive error
  • autosomal recessive limb-girdle muscular dystrophy type 23
  • LAMA2 related muscular dystrophy
  • hyperopia
  • hereditary disorder
  • schizophrenia
regulated by
regulates
role in cell
  • growth
  • phosphorylation in
  • activation
  • migration
  • proliferation
  • number
  • accumulation
  • apoptosis
  • formation
  • binding

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • cell surface
  • perisynaptic region
  • Plasma Membrane
  • dendritic spines
  • neuromuscular junctions
  • nerve ending
  • synapse
  • sarcolemma
  • extracellular matrix
  • basal lamina
  • axon terminals
  • plasma
  • basement membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human LAMA2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • Schwann cell differentiation
  • muscle organ development
  • regulation of embryonic development
  • axon guidance
  • positive regulation of synaptic transmission, cholinergic
  • cell adhesion
  • positive regulation of cell adhesion
  • regulation of cell migration
  • positive regulation of integrin-mediated signaling pathway
  • maintenance of blood-brain barrier
  • positive regulation of muscle cell differentiation

Cellular Component

Where in the cell the gene product is active
  • basement membrane
  • synaptic cleft
  • sarcolemma
  • dendritic spine
  • neuromuscular junction
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • structural molecule activity
  • extracellular matrix structural constituent
  • receptor binding

Gene-Specific Assays for Results You Can Trust

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