NEBL (Nebulin-related Anchoring Protein) Gene
Key regulator of sarcomere structure and cardiac function
Gene Information Card
| Symbol | NEBL |
|---|---|
| Full Name | nebulette |
| Gene Type | protein-coding |
| Chromosomal Location | 10p12.31 |
| NCBI Gene ID | 10529 ncbi.nlm.nih.gov/gene/10529 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | O76041 |
| OMIM ID | 605491 |
| HGNC ID | 16932 |
| Aliases | LNEBL, MGC3310 |
Description
The NEBL gene encodes nebulette, a nebulin-related actin-binding protein predominantly expressed in cardiac muscle. It localizes to the Z-disc and I-band of sarcomeres, where it stabilizes thin filaments and contributes to myofibril integrity. Alternative splicing generates isoforms with tissue-specific functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy (DCM) | Disruption of Z-disc assembly and sarcomere stability due to NEBL mutations | ClinVar, PMID: 20675408 |
| Left ventricular noncompaction (LVNC) | Impaired myocardial compaction linked to NEBL variants | ClinVar, PMID: 23404333 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 48.2 | High |
| Skeletal muscle | 12.1 | Medium |
| Esophagus | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 35.0 | High expression |
| Skeletal myoblasts (C2C12) | 8.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2173C>T (p.Arg725Trp) | Missense | 0.01% | Altered actin binding; associated with DCM |
| c.2830G>A (p.Glu944Lys) | Missense | 0.005% | Reduced Z-disc localization; LVNC |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations impair actin filament stabilization, leading to sarcomere disarray.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Dominant-negative effects may occur via mutant nebulette disrupting Z-disc assembly.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • structural constituent of muscle |
| • Z-disc | • sarcomere |
| • actin filament organization |
Pathways
• Cardiac muscle contraction
• Sarcomere organization
Protein Summary
Nebulette is a 1169-amino acid protein with an N-terminal actin-binding domain and multiple nebulin repeats. It anchors thin filaments to the Z-disc and modulates cardiac contractility. Isoforms vary in length and tissue distribution.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEBL Knockout HEK293 Cell Line | EDJ-KQ7082 | Human | 10529 | Details Get a Quote |
| NEBL Knockout HCT 116 Cell Line | EDJ-KQ30532 | Human | 10529 | Details Get a Quote |
| NEBL Knockout A-549 Cell Line | EDJ-KQ31915 | Human | 10529 | Details Get a Quote |
| NEBL Knockout HeLa Cell Line | EDJ-KQ31916 | Human | 10529 | Details Get a Quote |
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