SGCD Gene - Sarcoglycan Delta
Comprehensive gene information for SGCD (sarcoglycan delta) including genomic data, associated diseases, expression, and mutations.
Gene Information Card
| Symbol | SGCD |
|---|---|
| Full Name | sarcoglycan delta |
| Gene Type | protein coding |
| Chromosomal Location | 5q33.2-q33.3 |
| NCBI Gene ID | 6444 ncbi.nlm.nih.gov/gene/6444 |
| Ensembl ID | ENSG00000170619 |
| UniProt ID | Q92629 |
| OMIM ID | 601411 |
| HGNC ID | 10807 |
| Aliases | CMD1L, DAGD, LGMD2F, SG-delta, SGCD1, delta-sarcoglycan |
Description
The SGCD gene encodes delta-sarcoglycan, a transmembrane glycoprotein component of the dystrophin-glycoprotein complex (DGC). This complex links the cytoskeleton to the extracellular matrix, providing structural stability to muscle fibers. Mutations in SGCD cause autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) and dilated cardiomyopathy type 1L (CMD1L).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Limb-girdle muscular dystrophy type 2F (LGMD2F) | Loss-of-function mutations in SGCD disrupt the sarcoglycan complex, leading to sarcolemmal instability and muscle fiber degeneration. | OMIM #601287; ClinVar |
| Dilated cardiomyopathy type 1L (CMD1L) | Defects in delta-sarcoglycan impair cardiac muscle integrity, causing progressive heart dilation and failure. | OMIM #606685; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 28.5 | High |
| Heart | 22.1 | High |
| Smooth muscle | 10.3 | Medium |
| Brain | 1.2 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH-30 (rhabdomyosarcoma) | 30.2 | High expression |
| H9c2 (rat cardiomyocyte) | 25.8 | High expression |
| A549 (lung carcinoma) | 0.8 | Low expression |
| HEK 293 (embryonic kidney) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.290C>T (p.Pro97Leu) | Missense | Common in LGMD2F | Loss of function |
| c.656delC (p.Pro219fs) | Frameshift | Rare | Loss of function |
| c.229C>T (p.Arg77*) | Nonsense | Reported | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SGCD mutations are loss-of-function, leading to reduced or absent delta-sarcoglycan protein, destabilizing the sarcoglycan complex.
Gain of Function (GOF)
No gain-of-function mutations reported for SGCD.
Dominant Negative (DN)
No dominant-negative mutations reported; SGCD-associated diseases are autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • dystrophin-associated glycoprotein complex | • sarcolemma |
| • structural constituent of muscle | • protein binding |
| • cell-matrix adhesion |
Pathways
• Dystrophin-associated glycoprotein complex
• Striated muscle contraction
• Cell-extracellular matrix interactions
Protein Summary
Delta-sarcoglycan is a 35 kDa transmembrane protein with a single extracellular domain, a transmembrane domain, and a short cytoplasmic tail. It forms a subcomplex with alpha-, beta-, and gamma-sarcoglycan within the DGC. The protein is essential for maintaining sarcolemmal integrity in skeletal and cardiac muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SGCD Knockout HEK293 Cell Line | EDJ-KQ3448 | Human | 6444 | Details Get a Quote |
| SGCD Knockout A-549 Cell Line | EDJ-KQ25185 | Human | 6444 | Details Get a Quote |
| SGCD Knockout HeLa Cell Line | EDJ-KQ54455 | Human | 6444 | Details Get a Quote |
| SGCD Knockout HCT 116 Cell Line | EDJ-KQ71415 | Human | 6444 | Details Get a Quote |
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