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]

  • Cell adhesion
  • Axon guidance
  • Muscle organ development
  • Animal organ morphogenesis
  • Tissue development

  • Muscular dystrophy, congenital merosin-deficient, 1a
  • Muscular dystrophy, limb-girdle, autosomal recessive 23
  • Laminin subunit alpha 2-related congenital muscular dystrophy
  • Isolated elevated serum creatine phosphokinase levels
  • Creatine phosphokinase, elevated serum

  • General Cardiomyopathy
  • Dilated Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

LAMA2 (laminin subunit alpha 2) – BioGPS

Interacting Proteins for LAMA2 Gene – String

Gene Location

Pathogenic Prevalence

% 0.0510725229826353

Ratio of samples with at least 1 pathogenic variant (Computed from Ayass Bioscience Samples)

HM-VUS Prevalence

% 0.204290091930541

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

Pathogenic Variants

delT=0.000024(6/251474,GnomAD_exome)
delT=0.000048(6/125568,TOPMED)
delT=0.000016(2/121406,ExAC)
delT=0.00006(2/31408,GnomAD)
delT=0.00064(8/12518,GO-ESP)
delT=0.00009(1/11175,ALFAProject)

High/Med VUS Variants

delT=0.000024(6/251474,GnomAD_exome)
delT=0.000048(6/125568,TOPMED)
delT=0.000016(2/121406,ExAC)
delT=0.00006(2/31408,GnomAD)
delT=0.00064(8/12518,GO-ESP)
delT=0.00009(1/11175,ALFAProject)

T=0.000052(13/251304,GnomAD_exome)
T=0.000024(3/125568,TOPMED)
T=0.000066(8/121318,ExAC)
T=0.00003(2/78692,PAGE_STUDY)
T=0.00006(2/31394,GnomAD)
T=0.0004(2/4480,Estonian)
T=0.0000(0/2370,ALFAProject)

T=0.000028(7/251122,GnomAD_exome)
T=0.000048(6/125568,TOPMED)
T=0.000008(1/121350,ExAC)
T=0.00009(1/11176,ALFAProject)

T=0.000024(6/250502,GnomAD_exome)
T=0.000008(1/125568,TOPMED)
T=0.000033(4/120332,ExAC)
T=0.0005(1/2188,ALFAProject)