SYNC Gene (Syncollin)
Gene encoding syncollin, an intermediate filament protein involved in muscle cell structure and function
Gene Information Card
| Symbol | SYNC |
|---|---|
| Full Name | Syncollin |
| Gene Type | Protein coding |
| Chromosomal Location | 1p35.1 |
| NCBI Gene ID | 81493 ncbi.nlm.nih.gov/gene/81493 |
| Ensembl ID | ENSG00000162594 |
| UniProt ID | Q9H2C5 |
| OMIM ID | 611315 |
| HGNC ID | 28966 |
| Aliases | SYNC1, syncollin |
Description
The SYNC gene encodes syncollin, a member of the intermediate filament protein family. Syncollin is primarily expressed in skeletal and cardiac muscle, where it interacts with desmin and other cytoskeletal components to maintain muscle cell integrity and function. It plays a role in myofibril organization and may be involved in muscle development and repair.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myofibrillar myopathy | Mutations in SYNC disrupt desmin filament network, leading to protein aggregation and muscle fiber degeneration | ClinVar, OMIM |
| Cardiomyopathy | Altered syncollin expression affects cardiac muscle cytoskeleton, potentially contributing to dilated cardiomyopathy | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 45.2 | High |
| Heart | 28.1 | Medium |
| Smooth muscle | 12.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 38.5 | High expression |
| Cardiomyocytes | 25.0 | Medium expression |
| Fibroblasts | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.742C>T (p.Arg248Trp) | Missense | <0.01% | Alters protein structure, associated with myofibrillar myopathy |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to premature stop codons or start codon loss are predicted to cause loss of function, impairing muscle cytoskeleton integrity.
Gain of Function (GOF)
No evidence of gain-of-function mutations in SYNC.
Dominant Negative (DN)
Missense mutations such as p.Arg248Trp may act in a dominant-negative manner by disrupting desmin filament assembly.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • intermediate filament (GO:0005882) |
| • myofibril (GO:0030016) | • contractile fiber (GO:0043292) |
Pathways
• Intermediate filament organization
• Muscle contraction
Protein Summary
Syncollin is a 45 kDa intermediate filament protein that co-assembles with desmin to form the cytoskeletal network in muscle cells. It contains a central alpha-helical rod domain flanked by non-helical head and tail domains. Syncollin is essential for maintaining sarcomere alignment and mechanical stability in skeletal and cardiac muscle. Mutations in SYNC are linked to myofibrillar myopathy and cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYNCRIP Knockout HEK293 Cell Line | EDJ-KQ2684 | Human | 10492 | Details Get a Quote |
| SYNC Knockout HEK293 Cell Line | EDJ-KQ2762 | Human | 81493 | Details Get a Quote |
| SYNCRIP Knockout A-549 Cell Line | EDJ-KQ23495 | Human | 10492 | Details Get a Quote |
| SYNCRIP Knockout HCT 116 Cell Line | EDC08209 | Human | 10492 | Details Get a Quote |
| SYNCRIP Knockout HeLa Cell Line | EDJ-KQ23497 | Human | 10492 | Details Get a Quote |
| SYNC Knockout A-549 Cell Line | EDJ-KQ23667 | Human | 81493 | Details Get a Quote |
| SYNC Knockout HeLa Cell Line | EDJ-KQ23668 | Human | 81493 | Details Get a Quote |
| SYNC Knockout HCT 116 Cell Line | EDJ-KQ74322 | Human | 81493 | Details Get a Quote |
| Human respiratory syncytial virus A Overexpression CHO-K1 Stable Cell Line | EDJ-GQ133 | Chinese hamster | / | Details Get a Quote |
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