dystroglycan 1
| UniProt | Protein Name |
|---|---|
| Q14118 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| positive regulation of cell-matrix adhesion |
|
|
| morphogenesis of an epithelium |
|
|
| morphogenesis of an epithelial sheet |
|
|
| chondrocyte differentiation |
|
|
| heart morphogenesis |
|
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi membrane |
|
|
| extracellular region |
|
|
| extracellular region |
|
|
| extracellular region |
|
|
| extracellular region |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| virus receptor activity |
|
|
| dystroglycan binding |
|
|
| actin binding |
|
|
| serine-type endopeptidase activity |
|
|
| laminin receptor activity |
|
| Gene Ontology |
|---|
| calcium ion binding |
| morphogenesis of an epithelium |
| muscle attachment |
| nerve development |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
| DOID:11723 | Duchenne muscular dystrophy | |
| DOID:3429 | inclusion body myositis | |
| DOID:0111232 | congenital muscular dystrophy-dystroglycanopathy type A9 | |
| DOID:11650 | bronchopulmonary dysplasia | |
| DOID:0110278 | autosomal recessive limb-girdle muscular dystrophy type 2D |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000175 | Cleft palate |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000193 | Bifid uvula |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| Disease ID | Disease Name |
|---|---|
| ORPHA:899 |
|
| ORPHA:370997 |
|
| OMIM:616538 |
|
| ORPHA:280333 |
|
| OMIM:613818 |
|
| Species | Gene ID | Alliance of Genome Resources |
|---|---|---|
| 13138 | MGI:101864 | |
| 36773 | FB:FBgn0034072 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: April 6, 2026