AGRN (agrin)

2007-12-01  

Identity

HGNC
AGRN
LOCATION
1p36.33
LOCUSID
375790
ALIAS
AGRIN,CMS8,CMSPPD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 375790
MIM: 103320
HGNC: 329
Ensembl: ENSG00000188157

Variants:

dbSNP: 375790
ClinVar: 375790
TCGA: ENSG00000188157
COSMIC: AGRN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188157ENST00000379370O00468
ENSG00000188157ENST00000620552A0A087X208
ENSG00000188157ENST00000651234A0A494C1I6
ENSG00000188157ENST00000652369A0A494C0G5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
ECM-receptor interactionKEGGko04512
ECM-receptor interactionKEGGhsa04512
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Diseases associated with glycosaminoglycan metabolismREACTOMER-HSA-3560782
Defective B4GALT7 causes EDS, progeroid typeREACTOMER-HSA-3560783
Defective B3GAT3 causes JDSSDHDREACTOMER-HSA-3560801
Defective EXT1 causes exostoses 1, TRPS2 and CHDSREACTOMER-HSA-3656253
Defective EXT2 causes exostoses 2REACTOMER-HSA-3656237
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
A tetrasaccharide linker sequence is required for GAG synthesisREACTOMER-HSA-1971475
HS-GAG biosynthesisREACTOMER-HSA-2022928
HS-GAG degradationREACTOMER-HSA-2024096
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Extracellular matrix organizationREACTOMER-HSA-1474244
Non-integrin membrane-ECM interactionsREACTOMER-HSA-3000171
ECM proteoglycansREACTOMER-HSA-3000178
Integrin cell surface interactionsREACTOMER-HSA-216083
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
Defective B3GALT6 causes EDSP2 and SEMDJL1REACTOMER-HSA-4420332
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
366097952023Genes encoding agrin (AGRN) and neurotrypsin (PRSS12) are associated with muscle mass, strength and plasma C-terminal agrin fragment concentration.4
373214672023AGRN promotes lung adenocarcinoma progression by activating Notch signaling pathway and acts as a therapeutic target.2
373567212023The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.1
375629512023Association between the 110-kDa C-terminal agrin fragment and skeletal muscle decline among community-dwelling older women.1
378412812023Bioinformatics-based analysis of the roles of basement membrane-related gene AGRN in systemic lupus erythematosus and pan-cancer development.0
366097952023Genes encoding agrin (AGRN) and neurotrypsin (PRSS12) are associated with muscle mass, strength and plasma C-terminal agrin fragment concentration.4
373214672023AGRN promotes lung adenocarcinoma progression by activating Notch signaling pathway and acts as a therapeutic target.2
373567212023The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.1
375629512023Association between the 110-kDa C-terminal agrin fragment and skeletal muscle decline among community-dwelling older women.1
378412812023Bioinformatics-based analysis of the roles of basement membrane-related gene AGRN in systemic lupus erythematosus and pan-cancer development.0
344005592022Myasthenia gravis genome-wide association study implicates AGRN as a risk locus.3
349200132022Association between frailty and C-terminal agrin fragment with 3-month mortality following ST-elevation myocardial infarction.4
359488342022Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.3
362330912022Neuronal Agrin Promotes Proliferation of Primary Human Myoblasts in an Age-Dependent Manner.5
344005592022Myasthenia gravis genome-wide association study implicates AGRN as a risk locus.3

Citation

Dessen P

AGRN (agrin)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49849/meetings/gene-fusions-explorer/case-report-explorer/favicon/apple-touch-icon.png