NEB Gene (Nebulin)
Nebulin: Structural Protein in Skeletal Muscle Sarcomeres
Gene Information Card
| Symbol | NEB |
|---|---|
| Full Name | Nebulin |
| Gene Type | Protein coding |
| Chromosomal Location | 2q23.3 |
| NCBI Gene ID | 4703 ncbi.nlm.nih.gov/gene/4703 |
| Ensembl ID | ENSG00000183091 |
| UniProt ID | P20929 |
| OMIM ID | 161650 |
| HGNC ID | 7720 |
| Aliases | NEB, nebulin, NEM2 |
Description
The NEB gene encodes nebulin, a giant actin-binding protein (600-900 kDa) that is a component of the sarcomere in skeletal muscle. Nebulin is thought to act as a molecular ruler, regulating thin filament length and contributing to muscle contraction and structural integrity. Mutations in NEB are a major cause of nemaline myopathy, a congenital neuromuscular disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nemaline myopathy 2 (NEM2) | Loss-of-function mutations in NEB disrupt thin filament assembly, leading to nemaline rod formation and muscle weakness. | ClinVar, OMIM |
| Nemaline myopathy (general) | NEB mutations account for ~50% of all nemaline myopathy cases, with autosomal recessive inheritance. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 152.4 | High |
| Heart muscle | 0.6 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 12.3 | Moderate expression |
| Skeletal muscle myotubes | 45.6 | High expression |
| Other cell lines | <0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.24579G>A (p.Trp8193*) | Nonsense | Rare | Loss of function; truncates nebulin, causing nemaline myopathy |
| c.24612_24613delAG (p.Glu8205fs) | Frameshift | Rare | Loss of function; leads to premature termination |
| c.19971+1G>A | Splice site | Rare | Splicing defect; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most NEB mutations are loss-of-function (nonsense, frameshift, splice site), leading to reduced or absent nebulin protein, disrupting sarcomere structure.
Gain of Function (GOF)
No gain-of-function mutations reported for NEB.
Dominant Negative (DN)
No dominant-negative mutations reported; NEB-related disorders are autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • structural constituent of muscle |
| • sarcomere organization | • striated muscle thin filament |
Pathways
• Sarcomere assembly
• Muscle contraction
Protein Summary
Nebulin is a giant, modular protein predominantly expressed in skeletal muscle. It binds actin and tropomyosin, and its length correlates with thin filament length. Nebulin is essential for sarcomere integrity and muscle function. Mutations cause nemaline myopathy, characterized by muscle weakness and rod-like inclusions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEB Knockout HEK293 Cell Line | EDJ-KQ5313 | Human | 4703 | Details Get a Quote |
| NEBL Knockout HEK293 Cell Line | EDJ-KQ7082 | Human | 10529 | Details Get a Quote |
| NEB Knockout A-549 Cell Line | EDJ-KQ28382 | Human | 4703 | Details Get a Quote |
| NEB Knockout HCT 116 Cell Line | EDJ-KQ28383 | Human | 4703 | 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 |
| NEB Knockout HeLa Cell Line | EDJ-KQ53971 | Human | 4703 | Details Get a Quote |
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