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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
dystrophin
Summary
- Gene Symbol
-
- DMD
- Aliases
-
- BMD
- DXS142
- DXS164
- DXS206
- DXS230
- DXS239
- DXS268
- DXS269
- DXS270
- DXS272
- muscular dystrophy, Duchenne and Becker types
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Actin-binding
- Alternative promoter usage
- Alternative splicing
- Calcium
- Cardiomyopathy
- Cell membrane
- Coiled coil
- Cytoskeleton
- Disease variant
- Phosphoprotein
- Postsynaptic cell membrane
- Proteomics identification
- Reference proteome
- Repeat
- Zinc-finger
- Proteins
| UniProt | Protein Name |
|---|---|
| A7E212 |
|
| A0A0S2Z3B5 |
|
| A0A087WV90 |
|
| A0A804HKY9 |
|
| A0A0S2Z3J7 |
|
| P11532 |
|
| Q4G0X0 |
|
| A0A5H1ZRP9 |
|
| A0A5H1ZRQ8 |
|
| Q16484 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| positive regulation of cell-matrix adhesion | ||
| regulation of heart rate | ||
| regulation of heart rate | ||
| muscle contraction | ||
| cytoskeleton organization |
GO Hierarchy
biological process
cellular process [inference]
biological regulation [inference]
regulation of biological process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus | ||
| nucleus | ||
| nucleus | ||
| cytoplasm | ||
| mitochondrial outer membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| dystroglycan binding | ||
| actin binding | ||
| actin binding | ||
| actin binding | ||
| integrin binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- dystrophin
- Functional Category
-
- K: Transcription
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| metal ion binding |
| synaptic signaling |
| zinc ion binding |
| InterPro |
|---|
| EF-hand domain pair |
| EF-hand domain, type 1 |
| EF-hand domain, type 2 |
| Spectrin repeat |
| Spectrin/alpha-actinin |
| Zinc finger, ZZ-type superfamily |
| Zinc finger, ZZ-type |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110461 | dilated cardiomyopathy 3B | |
| DOID:1059 | intellectual disability | |
| DOID:11723 | Duchenne muscular dystrophy | |
| DOID:12930 | dilated cardiomyopathy | |
| DOID:1561 | cognitive disorder | |
| DOID:9883 | Becker muscular dystrophy |
