DYTN (Dystrotelin)
Gene encoding dystrotelin, a member of the dystrophin family involved in muscle structure and function.
Gene Information Card
| Symbol | DYTN |
|---|---|
| Full Name | dystrotelin |
| Gene Type | protein-coding |
| Chromosomal Location | 2q24.3 |
| NCBI Gene ID | 100129361 ncbi.nlm.nih.gov/gene/100129361 |
| Ensembl ID | ENSG00000205643 |
| UniProt ID | A6NGE7 |
| OMIM ID | 617911 |
| HGNC ID | 37289 |
| Aliases | FLJ46361, MGC16384 |
Description
DYTN (dystrotelin) is a protein-coding gene belonging to the dystrophin family. It encodes a protein that is structurally similar to dystrophin and utrophin, involved in linking the cytoskeleton to the extracellular matrix in muscle cells. The gene is primarily expressed in brain and testis, with lower levels in other tissues. Its exact physiological role is under investigation, but it is implicated in muscle integrity and neuronal function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Testis | 4.8 | Low |
| Muscle | 1.1 | Not detected |
| Heart | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 3.1 | Neuroblastoma cell line |
| HeLa | 1.5 | Cervical carcinoma |
| HEK293 | 0.8 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton (GO:0005856) | • protein binding (GO:0005515) |
| • structural constituent of cytoskeleton (GO:0005200) |
Pathways
• Dystrophin-associated glycoprotein complex (predicted)
Protein Summary
Dystrotelin is a 1,088-amino acid protein with spectrin-type repeats and a WW domain, characteristic of the dystrophin family. It is predicted to localize to the sarcolemma and interact with actin and dystroglycan, though experimental validation is limited. Expression is highest in brain and testis, suggesting roles beyond muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYTN Knockout HEK293 Cell Line | EDJ-KQ12462 | Human | 391475 | Details Get a Quote |
| DYTN Knockout HeLa Cell Line | EDJ-KQ60220 | Human | 391475 | Details Get a Quote |
| DYTN Knockout A-549 Cell Line | EDJ-KQ68682 | Human | 391475 | Details Get a Quote |
| DYTN Knockout HCT 116 Cell Line | EDJ-KQ77049 | Human | 391475 | Details Get a Quote |
