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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 |
|---|---|---|
| positive regulation of filopodium assembly | ||
| neuromuscular junction development | ||
| signal transduction |
|
|
| positive regulation of GTPase activity | ||
| receptor clustering |
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:0009005 | Weakness of the intrinsic hand muscles |
| HP:0009046 | Difficulty running |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0009077 | Weakness of long finger extensor muscles |
| HP:0010307 | Stridor |
| HP:0010536 | Central sleep apnea |
| HP:0010628 | Facial palsy |
| HP:0011463 | Childhood onset |
| HP:0011469 | Nasal regurgitation |
| HP:0011968 | Feeding difficulties |
| 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 |
|---|---|---|---|
| 3565243 | WB:WBGene00018304 | ||
| 103187444 | CALMI36764 | ||
| 565373 | ZFIN:ZDB-GENE-030131-1033 | DANRE23955 | |
| 115166082 | SALTR86027 | ||
| 115168970 | SALTR75277 | ||
| 109196113 | ORENI38708 | ||
| 115584465 | SPAAU52529 | ||
| 108696525 | Xenbase:XB-GENE-6488235 | ||
| 108697619 | Xenbase:XB-GENE-17345505 | ||
| 100492176 | Xenbase:XB-GENE-953967 |
