AGRN (agrin)

2007-12-01  

Identity

HGNC
LOCATION
1p36.33
LOCUSID
ALIAS
AGRIN,CMS8,CMSPPD
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
282734602017Agrin as a Mechanotransduction Signal Regulating YAP through the Hippo Pathway.43
242447072013MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.35
223077762012Dynamics of expression patterns of AQP4, dystroglycan, agrin and matrix metalloproteinases in human glioblastoma.22
255069192014Agrin and perlecan mediate tumorigenic processes in oral squamous cell carcinoma.18
156917102005Motor neurite outgrowth is selectively inhibited by cell surface MuSK and agrin.11
160374932005Agrin binds alpha-synuclein and modulates alpha-synuclein fibrillation.10
191942762009Agrin and CD34 immunohistochemistry for the discrimination of benign versus malignant hepatocellular lesions.10
164879302006Identification of agrinSN isoform and muscle-specific receptor tyrosine kinase (MuSK) [corrected] in sperm.4
191668232009Amyloid beta induces cellular relocalization and production of agrin and glypican-1.3

Citation

Dessen P

AGRN (agrin)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49849/agrn