SGCB - sarcoglycan beta Gene
Also Known as A3b; SGC; LGMD2E; LGMDR4
生物種: Homo sapiens
About SGCB
This gene has 3 transcripts (splice variants), 201 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 22.7), brain (RPKM 22.7) and 23 other tissues.
Summary
This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle Cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]
SGCB Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000232.5 | NP_000223.1 | beta-sarcoglycan |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
28514442 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| part of dystrophin-associated glycoprotein complex |
IDA
IDA: Inferred from direct assay
|
17993586 | GOA |
SGCB Protein Structure
Sarcoglycan_1: Sarcoglycan complex subunit protein (52 - 308)
- 0
- 100
- 200
- 300
- 318 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
beta-sarcoglycan |
|
SGCB Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
SGCB | Q16585 | MGST2 | Homo sapiens | Q99735 | 32296183 | |
|
Intra
|
SGCB | Q16585 | CMTM5 | Homo sapiens | Q96DZ9-2 | 32296183 | |
|
Intra
|
SGCB | Q16585 | CLEC7A | Homo sapiens | Q9BXN2-6 | 32296183 | |
|
Intra
|
SGCB | Q16585 | BRICD5 | Homo sapiens | Q6PL45-2 | 32296183 | |
|
Intra
|
SGCB | Q16585 | SLC52A1 | Homo sapiens | Q9NWF4 | 32296183 | |
|
Intra
|
SGCB | Q16585 | NINJ1 | Homo sapiens | Q92982 | 32296183 | |
|
Intra
|
SGCB | Q16585 | SMIM3 | Homo sapiens | Q9BZL3 | 32296183 |
SGCB 抗体
| 製品番号 | 製品名 | アプリケーション | 反応性 |
|---|---|---|---|
| HY-P810228 | β-sarcoglycan Antibody (YA9572) | WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA | human, mouse, rat |
| HY-P810926 | Beta-sarcoglycan Antibody | WB, ICC/IF | Human, Mouse, Rat |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
|
| Qualitative Or Quantitative Defects Of Beta-Sarcoglycan |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
|
| Dilated Cardiomyopathy |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Muscular Dystrophy |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 9 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
|
| Cardiomyopathy, Dilated, 1l |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
|
|
| N1 Diffuse Large B-Cell Lymphoma |
|
|
| Muscular Dystrophy, Limb-Girdle, Type 1h |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
|
|
| Miyoshi Muscular Dystrophy |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
|
| Neuromuscular Disease |
|
|
| Cardiomyopathy, Dilated, 1g |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
|
|
| Myopathy |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 1 |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 14 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
|
|
| Muscular Dystrophy, Becker Type |
|
|
| Autosomal Dominant Limb-Girdle Muscular Dystrophy |
|
|
| Miyoshi Muscular Dystrophy 3 |
|
|
| Cardiomyopathy, Dilated, 3b |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
|
|
| Myopathy With Extrapyramidal Signs |
|
|
| Muscular Dystrophy, Duchenne Type |
|
|
| Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
|
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
|
| Muscle Tissue Disease |
|
|
| Bethlem Myopathy 1 |
|
|
| Myofibrillar Myopathy |
|
|
| Walker-Warburg Syndrome |
|
|
| Congenital Myasthenic Syndrome |
|
|
| Left Ventricular Noncompaction |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Bos taurus | SGCB | VGNC | VGNC:34536 |
| Canis familiaris | SGCB | VGNC | VGNC:46092 |
| Mus musculus | SGCB | MGD | MGI:1346523 |
| Felis catus | SGCB | VGNC | VGNC:65075 |
| Rattus norvegicus | SGCB | RGD | RGD:1594202 |
| Others | SGCB | NCBI |