DTNB Gene - Dystrobrevin Beta
A comprehensive biomedical resource for DTNB (dystrobrevin beta) including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | DTNB |
|---|---|
| Full Name | Dystrobrevin beta |
| Gene Type | protein-coding |
| Chromosomal Location | 2p24.3 |
| NCBI Gene ID | 1838 ncbi.nlm.nih.gov/gene/1838 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | O60941 |
| OMIM ID | 602415 |
| HGNC ID | 3058 |
| Aliases | DTN-B, Dystrobrevin-2, Dystrobrevin beta |
Description
DTNB (dystrobrevin beta) encodes a member of the dystrobrevin family, which are components of the dystrophin-associated protein complex (DAPC). This protein is involved in linking the cytoskeleton to the extracellular matrix and plays a role in muscle integrity and signaling. DTNB is expressed in various tissues, including muscle and brain, and mutations have been implicated in neuromuscular disorders and cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy | Disruption of DAPC complex leading to impaired muscle cell stability | ClinVar, OMIM |
| Muscular dystrophy | Loss of dystrobrevin function affects sarcolemma integrity | OMIM, NCBI |
| Breast cancer | Altered expression of DTNB may contribute to tumor progression | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Brain | 5.1 | Low |
| Lung | 3.2 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 2.1 | Low expression |
| MCF7 (breast) | 4.5 | Moderate expression |
| HepG2 (liver) | 1.2 | Low expression |
| SH-SY5Y (neuroblastoma) | 6.7 | Moderate expression |
| C2C12 (myoblast) | 15.3 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Glu189Lys) | Missense | 0.02% | Unknown significance |
| c.890_891insA | Frameshift | <0.01% | Loss of function |
| c.1025A>G (p.Asn342Ser) | Missense | 0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants (e.g., p.Arg412*, c.890_891insA) lead to truncated or absent protein, disrupting DAPC complex.
Gain of Function (GOF)
No gain-of-function mutations reported in DTNB.
Dominant Negative (DN)
No dominant-negative mutations reported in DTNB.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Dystrophin-associated glycoprotein complex (DAPC) signaling
• Muscle contraction and integrity
Protein Summary
Dystrobrevin beta is a 66 kDa protein that localizes to the sarcolemma in muscle cells and to synapses in neurons. It interacts with dystrophin, syntrophins, and other DAPC components to stabilize the membrane and mediate signaling. Alternative splicing generates multiple isoforms with tissue-specific functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DTNBP1 Knockout HEK293 Cell Line | EDJ-KQ3708 | Human | 84062 | Details Get a Quote |
| DTNB Knockout HEK293 Cell Line | EDJ-KQ4483 | Human | 1838 | Details Get a Quote |
| DTNB Knockout A-549 Cell Line | EDJ-KQ27058 | Human | 1838 | Details Get a Quote |
| DTNB Knockout HeLa Cell Line | EDJ-KQ27060 | Human | 1838 | Details Get a Quote |
| DTNBP1 Knockout A-549 Cell Line | EDJ-KQ25734 | Human | 84062 | Details Get a Quote |
| DTNBP1 Knockout HCT 116 Cell Line | EDJ-KQ25735 | Human | 84062 | Details Get a Quote |
| DTNBP1 Knockout HeLa Cell Line | EDJ-KQ25736 | Human | 84062 | Details Get a Quote |
| DTNB Knockout HCT 116 Cell Line | EDJ-KQ25796 | Human | 1838 | Details Get a Quote |
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