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
Displaying 1 entry
UniProt Protein Name
O00468
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000188157

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K06254
Name
agrin
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 58 in total
DO ID Disease Name Source
DOID:0050848 obstructive sleep apnea
DOID:0060249 scoliosis
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
DOID:0080348 Alzheimer's disease 1
DOID:0110035 Alzheimer's disease 2
DOID:0110037 Alzheimer's disease 5
DOID:0110038 Alzheimer's disease 6
DOID:0110039 Alzheimer's disease 7
DOID:0110041 Alzheimer's disease 8
The Human Phenotype Ontology
Displaying entries 61 - 70 of 95 in total
HPO ID HPO Term
HP:0003325 Limb-girdle muscle weakness
HP:0003388 Easy fatigability
HP:0003402 Decreased miniature endplate potentials
HP:0003403 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003443 Decreased size of nerve terminals
HP:0003458 EMG: myopathic abnormalities
HP:0003473 Fatigable weakness
HP:0003484 Upper limb muscle weakness
HP:0003547 Shoulder girdle muscle weakness
HP:0003693 Distal amyotrophy
Displaying all 3 entries
Disease ID Disease Name
ORPHA:98913
  • postsynaptic congenital myasthenic syndrome
ORPHA:98914
  • obsolete presynaptic congenital myasthenic syndrome
OMIM:615120
  • congenital myasthenic syndrome 8

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024