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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
agrin
Summary
- Gene Symbol
-
- AGRN
- Organism
- Homo sapiens (human)
External Links
- NCBI Gene
- 375790
- HGNC
- 329
- KEGG Gene ID
- hsa:375790
- PubChem
- 375790
- Alliance of Genome Resources
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Calcium
- Cell membrane
- Congenital myasthenic syndrome
- Developmental protein
- Differentiation
- Disease variant
- Disulfide bond
- EGF-like domain
- Extracellular matrix
- Heparan sulfate
- Laminin EGF-like domain
- Metal-binding
- Phosphoprotein
- Reference proteome
- Repeat
- Signal
- Synapse
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| O00468 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| G protein-coupled acetylcholine receptor signaling pathway |
|
|
| cytoskeleton organization | ||
| positive regulation of transcription by RNA polymerase II | ||
| positive regulation of synaptic assembly at neuromuscular junction | ||
| synapse organization |
|
GO Hierarchy
biological process
cellular process [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
regulation of biosynthetic process [inference]
positive regulation of metabolic process [inference]
regulation of cellular metabolic process [inference]
regulation of nitrogen compound metabolic process [inference]
regulation of macromolecule metabolic process [inference]
positive regulation of biological process [inference]
regulation of developmental process [inference]
regulation of cellular process [inference]
regulation of cellular metabolic process [inference]
regulation of cellular component biogenesis [inference]
positive regulation of cellular process [inference]
regulation of cellular component organization [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region |
|
|
| Golgi lumen |
|
|
| basement membrane | ||
| synapse | ||
| plasma membrane |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| dystroglycan binding | ||
| laminin binding |
|
|
| chondroitin sulfate binding | ||
| calcium ion binding | ||
| heparan sulfate proteoglycan binding |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:10003 | sensorineural hearing loss | |
| DOID:10293 | monocular esotropia | |
| DOID:1059 | intellectual disability | |
| DOID:10652 | Alzheimer's disease | |
| DOID:11771 | spontaneous ocular nystagmus | |
| DOID:11832 | visual epilepsy | |
| DOID:11870 | Pick's disease | |
| DOID:11963 | esophagitis | |
| DOID:12506 | Bell's palsy | |
| DOID:13174 | dissociated nystagmus |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000218 | High palate |
| HP:0000276 | Long face |
| HP:0000308 | Microretrognathia |
| HP:0000369 | Low-set ears |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000467 | Neck muscle weakness |
| HP:0000496 | Abnormality of eye movement |
| HP:0000508 | Ptosis |
| HP:0000565 | Esotropia |
| Disease ID | Disease Name |
|---|---|
| ORPHA:98913 |
|
| ORPHA:98914 |
|
| OMIM:615120 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 106845249 | EQUAS30765 | ||
| 116824593 | CHEAB03029 | ||
| 105309829 | PTEVA06596 | ||
| 115045945 | ECHNA02331 | ||
| 115408572 | SALFA40670 | ||
| 113487803 | ATHCN19216 | ||
| 105820950 | PROCO29207 | ||
| 109045062 | CYPCA127769 | ||
| 109045073 | CYPCA118530 | ||
| 116454589 | CORMO10912 |
