SGCZ (Sarcoglycan Zeta)
Sarcoglycan Complex Component in Muscular Dystrophy and Cancer
Gene Information Card
| Symbol | SGCZ |
|---|---|
| Full Name | Sarcoglycan Zeta |
| Gene Type | Protein coding |
| Chromosomal Location | 8p22 |
| NCBI Gene ID | 137970 ncbi.nlm.nih.gov/gene/137970 |
| Ensembl ID | ENSG00000185052 |
| UniProt ID | Q96LD1 |
| OMIM ID | 608113 |
| HGNC ID | 33767 |
| Aliases | SGCZETA, sarcoglycan zeta |
Description
SGCZ encodes sarcoglycan zeta, a transmembrane glycoprotein component of the dystrophin-associated glycoprotein complex (DGC). The DGC links the cytoskeleton to the extracellular matrix in muscle cells, providing structural stability. SGCZ is expressed in skeletal and cardiac muscle and is implicated in sarcoglycanopathies and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) | Disruption of sarcoglycan complex assembly leads to sarcolemmal instability | ClinVar: pathogenic variants in SGCZ reported in LGMD patients |
| Breast cancer | Altered SGCZ expression may affect cell adhesion and migration | COSMIC: somatic mutations observed in breast carcinoma samples |
| Colorectal cancer | Loss of SGCZ expression correlates with tumor progression | COSMIC: missense mutations and copy number loss in colorectal tumors |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Brain | 2.1 | Low |
| Liver | 0.5 | Not detected |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RD (rhabdomyosarcoma) | 15.0 | High expression |
| HepG2 (hepatocellular carcinoma) | 0.8 | Low expression |
| A549 (lung carcinoma) | 3.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.229C>T (p.Arg77Trp) | Missense | 0.01% in gnomAD | Likely pathogenic in LGMD |
| c.487G>A (p.Gly163Arg) | Missense | 0.005% in gnomAD | Uncertain significance |
| c.742_743del (p.Leu248fs) | Frameshift deletion | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, disrupting DGC assembly.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations may interfere with sarcoglycan complex formation in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • dystrophin-associated glycoprotein complex | • sarcolemma |
| • structural constituent of muscle | • cell adhesion |
| • plasma membrane |
Pathways
• Dystrophin-associated glycoprotein complex
• Muscle contraction
• Cell adhesion (CAMs)
Protein Summary
Sarcoglycan zeta is a 35 kDa transmembrane protein with a single membrane-spanning domain. It forms part of the sarcoglycan subcomplex within the DGC, interacting with alpha-, beta-, gamma-, and delta-sarcoglycans. The protein is essential for maintaining sarcolemmal integrity and protecting muscle fibers from contraction-induced damage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SGCZ Knockout HEK293 Cell Line | EDJ-KQ9396 | Human | 137868 | Details Get a Quote |
| SGCZ Knockout HeLa Cell Line | EDJ-KQ58378 | Human | 137868 | Details Get a Quote |
| SGCZ Knockout A-549 Cell Line | EDJ-KQ66866 | Human | 137868 | Details Get a Quote |
| SGCZ Knockout HCT 116 Cell Line | EDJ-KQ75269 | Human | 137868 | Details Get a Quote |
