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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 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:8534 | gastroesophageal reflux disease | |
| DOID:8927 | learning disability | |
| DOID:9119 | acute myeloid leukemia | |
| DOID:9220 | central sleep apnea | |
| DOID:9649 | congenital nystagmus | |
| DOID:9650 | pathologic nystagmus | |
| DOID:9840 | esotropia | |
| DOID:9923 | developmental coordination disorder |
- 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 |
|---|---|---|---|
| 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 |
