SGCB Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SGCB |
| Official Name | sarcoglycan beta [Source:HGNC Symbol;Acc:HGNC:10806] |
| Ensembl ID | ENSG00000163069 |
| Bio databases IDs | |
| Aliases | sarcoglycan beta |
| Synonyms | 43DAG, A3b, AI844814, Beta sacroglycan, beta SARCOGLYCAN, beta-SG, LGMD2E, LGMDR4, LOC687025, sarcoglycan beta, sarcoglycan, beta, sarcoglycan, beta (dystrophin-associated glycoprotein), Sarcoglycan β, sarcoglycan, β, sarcoglycan, β (dystrophin-associated glycoprotein), SGC, β sacroglycan, β SARCOGLYCAN, β-SG |
| Species | Human, Homo sapiens |
| Orthologies |
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 SGCB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- intracellular domain
- Sarcoglycan complex subunit protein
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- limb-girdle muscular dystrophy type 2E
- cardiomyopathy
- hereditary disorder
- muscular dystrophy
- limb-girdle muscular dystrophy type 2
- weight gain
- sialidosis
- myositis
- primary dilated cardiomyopathy
- impaired glucose tolerance
role in cell
- necrosis
- organization
- abnormal morphology
- integrity
- development
- degeneration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- microsomal fraction
- endoplasmic reticulum membrane
- microsome
- Golgi membrane
- synapse
- sarcolemma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SGCB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- response to glucose stimulus
- glucose import in response to insulin stimulus
- glucose homeostasis
- cardiac muscle cell development
- gene expression
- vascular smooth muscle cell development
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- cytoplasm
- sarcolemma
- dystrophin-associated glycoprotein complex
- sarcoglycan complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding