LAMA2 - laminin subunit alpha 2 Gene
Also Known as LAMM; MDC1A
Species: Homo sapiens
About LAMA2
This gene has 20 transcripts (splice variants), 239 orthologues, 27 paralogues and is associated with 4 phenotypes. Biased expression in placenta (RPKM 30.7), ovary (RPKM 13.2) and 11 other tissues.
Summary
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]
LAMA2 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_000426.4 | NP_000417.3 | laminin subunit alpha-2 isoform a precursor |
| NM_001079823.2 | NP_001073291.2 | laminin subunit alpha-2 isoform b precursor |
| NM_000426.4 | NP_000417.3 | laminin subunit alpha-2 isoform a precursor |
| NM_001079823.2 | NP_001073291.2 | laminin subunit alpha-2 isoform b precursor |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in basement membrane |
IDA
IDA: Inferred from direct assay
|
2099832 | GOA |
LAMA2 Protein Structure
Laminin_N: Laminin N-terminal (Domain VI) (39 - 285)
Laminin_EGF: Laminin EGF domain (287 - 332)
Laminin_EGF: Laminin EGF domain (344 - 401)
Laminin_EGF: Laminin EGF domain (414 - 465)
Laminin_EGF: Laminin EGF domain (469 - 515)
Laminin_B: Laminin B (Domain IV) (583 - 722)
Laminin_EGF: Laminin EGF domain (723 - 744)
Laminin_EGF: Laminin EGF domain (757 - 804)
Laminin_EGF: Laminin EGF domain (807 - 862)
Laminin_EGF: Laminin EGF domain (865 - 915)
Laminin_EGF: Laminin EGF domain (918 - 964)
Laminin_EGF: Laminin EGF domain (967 - 1011)
Laminin_EGF: Laminin EGF domain (1014 - 1054)
Laminin_EGF: Laminin EGF domain (1060 - 1108)
Laminin_B: Laminin B (Domain IV) (1234 - 1369)
Laminin_EGF: Laminin EGF domain (1379 - 1406)
Laminin_EGF: Laminin EGF domain (1420 - 1466)
Laminin_EGF: Laminin EGF domain (1469 - 1524)
Laminin_EGF: Laminin EGF domain (1527 - 1567)
Laminin_I: Laminin Domain I (1588 - 1852)
Laminin_II: Laminin Domain II (2038 - 2172)
Laminin_G_1: Laminin G domain (2174 - 2313)
Laminin_G_1: Laminin G domain (2368 - 2507)
Laminin_G_1: Laminin G domain (2554 - 2695)
Laminin_G_1: Laminin G domain (2793 - 2920)
Laminin_G_2: Laminin G domain (2968 - 3094)
- 0
- 500
- 1000
- 1500
- 2000
- 2500
- 3122 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
laminin subunit alpha-2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
|
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
|
| Muscular Dystrophy |
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
|
| Alcohol Dependence |
|
|
| Creatine Phosphokinase, Elevated Serum |
|
|
| Microcephaly |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 4 |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 5 |
|
|
| Walker-Warburg Syndrome |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
|
|
| Muscular Dystrophy, Becker Type |
|
|
| Hypotonia |
|
|
| Dilated Cardiomyopathy |
|
|
| Muscular Dystrophy, Congenital, 1b |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Myopathy |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
|
| Emery-Dreifuss Muscular Dystrophy |
|
|
| Neuromuscular Disease |
|
|
| Medullary Sponge Kidney |
|
|
| Respiratory Failure |
|
|
| Muscle Eye Brain Disease |
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 |
|
|
| Malignant Hyperthermia |
|
|
| Bethlem Myopathy 1 |
|
|
| Childhood Infratentorial Ependymoma |
|
|
| Ullrich Congenital Muscular Dystrophy 1 |
|
|
| Neuropathy |
|
|
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy A14 |
|
|
| Cardiomyopathy, Dilated, 1d |
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A |
|
|
| Muscular Dystrophy, Duchenne Type |
|
|
| Rigid Spine Muscular Dystrophy 1 |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
|
| Miyoshi Muscular Dystrophy |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
|
|
| Muscle Tissue Disease |
|
|
| American Histoplasmosis |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
|
|
| Physical Disorder |
|
|
| Myopathy With Extrapyramidal Signs |
|
|
| Childhood Angiosarcoma |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
|
|
| Myopia |
|
|
| Muscular Dystrophy, Congenital, Megaconial Type |
|
|
| Muscular Disease |
|
|
| Canavan Disease |
|
|
| Batten-Turner Congenital Myopathy |
|
|
| Facioscapulohumeral Muscular Dystrophy 1 |
|
|
| Childhood Ependymoma |
|
|
| Tibial Muscular Dystrophy |
|
|
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
|
| Glycogen Storage Disease Ii |
|
|
| Junctional Epidermolysis Bullosa |
|
|
| Distal Arthrogryposis |
|
|
| Cardiomyopathy, Dilated, 1h |
|
|
| Oculopharyngeal Muscular Dystrophy |
|
|
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
|
| Congenital Fiber-Type Disproportion |
|
|
| Megalencephalic Leukoencephalopathy With Subcortical Cysts |
|
|
| Centronuclear Myopathy |
|
|
| Congenital Myasthenic Syndrome |
|
|
| Spinal Muscular Atrophy, Type Ii |
|
|
| Myofibrillar Myopathy |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Peripheral Nervous System Disease |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | LAMA2 | RGD | RGD:1308889 |
| Mus musculus | LAMA2 | MGD | MGI:99912 |
| Felis catus | LAMA2 | VGNC | VGNC:68004 |
| Canis familiaris | LAMA2 | VGNC | VGNC:42565 |
| Bos taurus | LAMA2 | VGNC | VGNC:57353 |
| Macaca mulatta | LAMA2 | VGNC | VGNC:74225 |
| Others | LAMA2 | NCBI |