UTRN (Utrophin) Gene
Structural Protein Gene Linked to Duchenne Muscular Dystrophy and Cancer
Gene Information Card
| Symbol | UTRN |
|---|---|
| Full Name | Utrophin |
| Gene Type | Protein coding |
| Chromosomal Location | 6q24.2 |
| NCBI Gene ID | 7409 ncbi.nlm.nih.gov/gene/7409 |
| Ensembl ID | ENSG00000152818 |
| UniProt ID | P46939 |
| OMIM ID | 128240 |
| HGNC ID | 12635 |
| Aliases | DMDL, DRP, DRP1 |
Description
The UTRN gene encodes utrophin, a large cytoskeletal protein that is structurally and functionally homologous to dystrophin. Utrophin localizes to the neuromuscular junction and sarcolemma, where it links the actin cytoskeleton to the extracellular matrix via the dystrophin-associated glycoprotein complex. It is widely expressed in various tissues and is upregulated in Duchenne muscular dystrophy (DMD) as a compensatory mechanism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Duchenne Muscular Dystrophy (DMD) | Utrophin upregulation partially compensates for dystrophin loss; therapeutic target | PMID: 10699186, 11445638 |
| Becker Muscular Dystrophy | Similar compensatory role as in DMD | PMID: 11445638 |
| Cancer (various types) | Altered utrophin expression affects cell adhesion and migration; potential tumor suppressor | PMID: 23104886, 25670082 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Brain | 4.1 | Low |
| Lung | 3.8 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 5.0 | Moderate expression |
| HeLa (Cervical) | 4.5 | Moderate expression |
| HepG2 (Liver) | 2.8 | Low expression |
| K562 (Leukemia) | 1.2 | Very low 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; truncated protein |
| c.2567_2568del (p.Leu856fs) | Frameshift | <0.01% | Loss of function; premature stop |
| c.3456G>A (p.Val1152Met) | Missense | 0.02% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated utrophin, reducing its ability to stabilize the cytoskeleton.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Dystrophin-associated glycoprotein complex (DGC) pathway
• Cell adhesion and cytoskeleton remodeling
Protein Summary
Utrophin is a 395 kDa protein composed of an N-terminal actin-binding domain, a central rod domain with spectrin-like repeats, and a C-terminal domain that binds dystroglycan and other DGC components. It is widely expressed in fetal and adult tissues, with highest levels in skeletal muscle, heart, and brain. Utrophin plays a critical role in maintaining membrane stability and cell adhesion, and its upregulation in DMD offers a potential therapeutic avenue.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UTRN Knockout HEK293 Cell Line | EDJ-KQ1977 | Human | 7402 | Details Get a Quote |
| UTRN Knockout A-549 Cell Line | EDJ-KQ21951 | Human | 7402 | Details Get a Quote |
| UTRN Knockout HCT 116 Cell Line | EDJ-KQ21952 | Human | 7402 | Details Get a Quote |
| UTRN Knockout HeLa Cell Line | EDJ-KQ21953 | Human | 7402 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
