SGCA - sarcoglycan alpha Gene
Also Known as ADL; DAG2; 50DAG; DMDA2; LGMD2D; LGMDR3; SCARMD1; adhalin
Species: Homo sapiens
About SGCA
This gene has 15 transcripts (splice variants), 183 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in heart (RPKM 27.1), esophagus (RPKM 7.1) and 11 other tissues.
Summary
This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin Cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
SGCA Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000023.4 | NP_000014.1 | alpha-sarcoglycan isoform 1 precursor |
| NM_001135697.3 | NP_001129169.1 | alpha-sarcoglycan isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
21516116 | GOA |
SGCA Protein Structure
Sarcoglycan_2: Sarcoglycan alpha/epsilon (8 - 387)
- 0
- 100
- 200
- 300
- 387 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
alpha-sarcoglycan |
|
SGCA Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SGCA | Q16586 | TGFBR2 | Homo sapiens | P37173 | 32814053 | |
|
Intra
|
SGCA | Q16586 | TGFBR2 | Homo sapiens | P37173 | 32814053 | |
|
Intra
|
SGCA | Q16586 | TGFBR2 | Homo sapiens | P37173 | 32814053 | |
|
Intra
|
SGCA | Q16586 | SGTA | Homo sapiens | O43765 | 26871637 | |
|
Intra
|
SGCA | Q16586 | SGTA | Homo sapiens | O43765 | 26871637 | |
|
Intra
|
SGCA | Q16586 | SGTA | Homo sapiens | O43765 | 32296183 | |
|
Intra
|
SGCA | Q16586 | SGTA | Homo sapiens | O43765 | 25416956 | |
|
Intra
|
SGCA | Q16586 | SGTA | Homo sapiens | O43765 | 21516116 | |
|
Intra
|
SGCA | Q16586 | SGTA | Homo sapiens | O43765 | 32296183 | |
|
Intra
|
SGCA | Q16586 | SGTA | Homo sapiens | O43765 | 25910212 | |
|
Intra
|
SGCA | Q16586 | SGTA | Homo sapiens | O43765 | 26871637 | |
|
Intra
|
SGCA | Q16586 | SGTA | Homo sapiens | O43765 | 25910212 | |
|
Intra
|
SGCA | Q16586 | SGTA | Homo sapiens | O43765 | 25910212 | |
|
Intra
|
SGCA | Q16586 | SGTB | Homo sapiens | Q96EQ0 | 32296183 | |
|
Intra
|
SGCA | Q16586 | SGTB | Homo sapiens | Q96EQ0 | 32296183 | |
|
Intra
|
SGCA | Q16586 | SGTB | Homo sapiens | Q96EQ0 | 32296183 |
SGCA Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82323 | alpha Sarcoglycan Antibody (YA2068) | WB, IHC-P, IP | Human, Mouse, Rat |
| HY-P82323A | alpha Sarcoglycan Antibody (YA2068)(PBS only) | WB, IHC-P, IP | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
|
|
| Qualitative Or Quantitative Defects Of Sarcoglycan |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Muscular Dystrophy |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
|
| Cardiomyopathy, Dilated, 3b |
|
|
| Muscular Dystrophy, Becker Type |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
|
|
| Walker-Warburg Syndrome |
|
|
| Dilated Cardiomyopathy 1t |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
|
|
| Myopathy |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
|
|
| Miyoshi Muscular Dystrophy |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 9 |
|
|
| Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q |
|
|
| Muscular Dystrophy, Duchenne Type |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
|
|
| Autosomal Dominant Limb-Girdle Muscular Dystrophy |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
|
| Muscle Eye Brain Disease |
|
|
| Muscle Tissue Disease |
|
|
| Myasthenic Syndrome, Congenital, 15 |
|
|
| Dilated Cardiomyopathy |
|
|
| Cardiomyopathy, Dilated, 1g |
|
|
| Facioscapulohumeral Muscular Dystrophy 1 |
|
|
| Miyoshi Muscular Dystrophy 3 |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 3 |
|
|
| Muscular Disease |
|
|
| Myopathy, Distal, 4 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x |
|
|
| Ullrich Congenital Muscular Dystrophy 1 |
|
|
| Bethlem Myopathy 1 |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 4 |
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A |
|
|
| Myopathy, Myofibrillar, 3 |
|
|
| Myopathy With Extrapyramidal Signs |
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
|
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
|
| Rigid Spine Muscular Dystrophy 1 |
|
|
| Emery-Dreifuss Muscular Dystrophy |
|
|
| Myofibrillar Myopathy |
|
|
| Congenital Myasthenic Syndrome |
|
|
| Neuromuscular Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | SGCA | MGD | MGI:894698 |
| Macaca mulatta | SGCA | VGNC | VGNC:77191 |
| Canis familiaris | SGCA | VGNC | VGNC:46091 |
| Felis catus | SGCA | VGNC | VGNC:65074 |
| Bos taurus | SGCA | VGNC | VGNC:34535 |
| Rattus norvegicus | SGCA | RGD | RGD:1308062 |
| Others | SGCA | NCBI |