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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AGRN Gene

protein-coding   GIFtS: 67
GCID: GC01P000946

Agrin

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
agrin1 2
AGRIN3
Agrin Proteoglycan1 2

External Ids:    HGNC: 3291   Entrez Gene: 3757902   Ensembl: ENSG000001881577   OMIM: 1033205   UniProtKB: O004683   

Export aliases for AGRN gene to outside databases

Previous GC identifers: GC01P000484 GC01P000708 GC01U900219 GC00P9W0144 GC01P000996 GC01P000226


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AGRN Gene:
This gene encodes one of several proteins that are critical in the development of the neuromuscular junction
(NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type
serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur
to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting
limb-girdle muscles, a mutation in this gene was found. (provided by RefSeq, Aug 2011)

GeneCards Summary for AGRN Gene: 
AGRN (agrin) is a protein-coding gene. Diseases associated with AGRN include agrn-related congenital myasthenic syndrome, and myasthenia, limb-girdle, familial, and among its related super-pathways are ECM-receptor interaction and Metabolism of carbohydrates. GO annotations related to this gene include laminin binding and calcium ion binding. An important paralog of this gene is EGFLAM.

UniProtKB/Swiss-Prot: AGRIN_HUMAN, O00468
Function: Isoform 1: heparan sulfate basal lamina glycoprotein that plays a central role in the formation and the
maintenance of the neuromuscular junction (NMJ) and directs key events in postsynaptic differentiation. Component
of the AGRN-LRP4 receptor complex that induces the phosphorylation and activation of MUSK. The activation of MUSK
in myotubes induces the formation of NMJ by regulating different processes including the transcription of
specific genes and the clustering of AChR in the postsynaptic membrane. Calcium ions are required for maximal
AChR clustering. AGRN function in neurons is highly regulated by alternative splicing, glycan binding and
proteolytic processing. Modulates calcium ion homestasis in neurons, specifically by inducing an increase in
cytoplasmic calcium ions. Functions differentially in the central nervous system (CNS) by inhibiting the
alpha(3)-subtype of Na+/K+-ATPase and evoking depolarization at CNS synapses. This secreted isoform forms a
bridge, after release from motor neurons, to basal lamina through binding laminin via the NtA domain
Function: Isoform 2: transmembrane form that is the predominate form in neurons of the brain, induces dendritic
filopodia and synapse formation in mature hippocampal neurons in large part due to the attached glycosaminoglycan
chains and the action of Rho-family GTPases
Function: Isoform 1, isoform 4 and isoform 5: neuron-specific (z+) isoforms that contain C-terminal insertions of
8-19 AA are potent activators of AChR clustering. Isoform 5, agrin (z+8), containing the 8-AA insert, forms a
receptor complex in myotubules containing the neuronal AGRN, the muscle-specific kinase MUSK and LRP4, a member
of the LDL receptor family. The splicing factors, NOVA1 and NOVA2, regulate AGRN splicing and production of the
'z' isoforms
Function: Isoform 3 and isoform 6: lack any 'z' insert, are muscle-specific and may be involved in endothelial
cell differentiation
Function: Agrin N-terminal 110 kDa subunit: is involved in regulation of neurite outgrowth probably due to the
presence of the glycosaminoglcan (GAG) side chains of heparan and chondroitin sulfate attached to the Ser/Thr-
and Gly/Ser-rich regions. Also involved in modulation of growth factor signaling (By similarity)
Function: Agrin C-terminal 22 kDa fragment: this released fragment is important for agrin signaling and to exert a
maximal dendritic filopodia-inducing effect. All 'z' splice variants (z+) of this fragment also show an increase
in the number of filopodia

Gene Wiki entry for AGRN (Agrin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004350.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AGRN gene promoter:
         CREB   p53   deltaCREB   MyoD   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAGRN promoter sequence
   Search SABiosciences Chromatin IP Primers for AGRN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AGRN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.33   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36.33

AGRN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGRN gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P000946:  view genomic region     (about GC identifiers)

Start:
955,503 bp from pter      End:
991,496 bp from pter
Size:
35,994 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AGRIN_HUMAN, O00468 (See protein sequence)
Recommended Name: Agrin precursor  
Size: 2067 amino acids; 217232 Da
Subunit: Monomer (By similarity). Interacts (N-terminal subunit) with TGF-beta family members, BMP2 AND BMP4; the
interactions inhibit the activity of these growth factors. Interacts with TGFB1; the interaction enhances the
activity of TGFB1 (By similarity). Component of the AGRN-LRP4 complex that consists of a tetramer of two
AGRN-LRP4 heterodimers. Interacts (via the laminin G-like 3 domain) directly with LRP4; the interaction is
required for activation of MUSK and clustering of AChR and requires the 'z8' insert present in the z(+8)
isoforms. Interacts with DAG1; the interaction is influenced by cell surface glycosaminoglycans and by
alternative splicing of AGRN
Subcellular location: Isoform 1: Secreted, extracellular space, extracellular matrix. Note=Synaptic basal lamina
at the neuromuscular junction (By similarity)
Subcellular location: Isoform 2: Cell junction, synapse. Cell membrane; Single-pass type II membrane protein
Miscellaneous: Cleaved C-terminal fragments may be used as a biomarker for sarcopenia, age-related progressive
loss of skeletal muscle (PubMed:22683512)
Caution: The unknown residue 'x' in the transmembrane isoform is probably a proline residue by similarity to mouse
and rat sequences
Secondary accessions: Q5SVA1 Q5SVA2 Q60FE1 Q7KYS8 Q8N4J5 Q96IC1 Q9BTD4
Alternative splicing: 7 isoforms:  O00468-1   O00468-2   O00468-3   O00468-4   O00468-5   O00468-6   O00468-7   (Produced by usage of an alternative first exon)

Explore the universe of human proteins at neXtProt for AGRN: NX_O00468

Explore proteomics data for AGRN at MOPED 

Post-translational modifications:

  • UniProtKB: Contains heparan and chondroitin sulfate chains and alpha-dystroglycan as well as N-linked and O-linked
    oligosaccharides. Glycosaminoglycans (GAGs), present in the N-terminal 110 kDa fragment, are required for
    induction of filopodia in hippocampal neurons. The first cluster (Gly/Ser-rich) for GAG attachment contains
    heparan sulfate (HS) chains and the second cluster (Ser/Thr-rich), contains chondroitin sulfate (CS) chains.
    Heparin and heparin sulfate binding in the G3 domain is independent of calcium ions. Binds heparin with a
    stoichiometry of 2:1. Binds sialic acid with a stoichiometry of 1:1 and binding requires calcium ions (By
    similarity)
  • UniProtKB: At synaptic junctions, cleaved at two conserved sites, alpha and beta, by neurotrypsin. Cleavage at the alpha-site
    produces the agrin N-terminal 110-kDa subunit and the agrin C-terminal 110-kDa subunit. Further cleavage of agrin
    C-terminal 110-kDa subunit at the beta site produces the C-terminal fragments, agrin C-terminal 90 kDa fragment
    and agrin C-terminal 22 kDa fragment. Excessive cleavage at the beta-site releases large amounts of the agrin
    C-terminal 22 kDa fragment leading to destabilization at the neuromuscular junction (NMJ)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00468

  • AGRN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AGRN Protein Expression
    REFSEQ proteins: NP_940978.2  
    ENSEMBL proteins: 
     ENSP00000368678   ENSP00000400771  
    Reactome Protein details: O00468
    Human Recombinant Protein Products for AGRN: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for AGRN (Agrin)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AGRN 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005605basal lamina IDA9405491
    GO:0005796Golgi lumen TAS--
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--

    AGRN for ontologies           About GeneDecksing



    AGRN Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of AGRN
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    Browse OriGene Antibodies
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    Novus Biologicals AGRN Antibodies
    Abcam antibodies for AGRN
    Cloud-Clone Corp. Antibodies for AGRN 
    Search ThermoFisher Antibodies for AGRN
    LSBio Antibodies in human, mouse, rat for AGRN 

    Assay Products for AGRN: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for AGRN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AGRN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AGRN 
    Cloud-Clone Corp. CLIAs for AGRN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ECMPG: Proteoglycans / Extracellular Matrix : Other

    5/11 InterPro protein domains (see all 11):
     IPR008993 TIMP-like_OB-fold
     IPR002350 Kazal_dom
     IPR000082 SEA_dom
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp

    Graphical View of Domain Structure for InterPro Entry O00468

    ProtoNet protein and cluster: O00468

    5/7 Blocks protein domains (see all 7):
    IPB000082 SEA domain
    IPB001455 Protein of unknown function UPF0033
    IPB001791 Laminin G
    IPB001881 EGF-like calcium-binding
    IPB006210 Type I EGF


    UniProtKB/Swiss-Prot: AGRIN_HUMAN, O00468
    Domain: The NtA domain, absent in TM-agrin, is required for binding laminin and connecting to basal lamina
    Domain: Both laminin G-like 2 (G2) and laminin G-like 3 (G3) domains are required for alpha-dystroglycan/DAG1
    binding. G3 domain is required for C-terminal heparin, heparan sulfate and sialic acid binding (By similarity)
    Similarity: Contains 4 EGF-like domains
    Similarity: Contains 9 Kazal-like domains
    Similarity: Contains 2 laminin EGF-like domains
    Similarity: Contains 3 laminin G-like domains
    Similarity: Contains 1 NtA (N-terminal agrin) domain
    Similarity: Contains 1 SEA domain


    AGRN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AGRIN_HUMAN, O00468
    Function: Isoform 1: heparan sulfate basal lamina glycoprotein that plays a central role in the formation and the
    maintenance of the neuromuscular junction (NMJ) and directs key events in postsynaptic differentiation. Component
    of the AGRN-LRP4 receptor complex that induces the phosphorylation and activation of MUSK. The activation of MUSK
    in myotubes induces the formation of NMJ by regulating different processes including the transcription of
    specific genes and the clustering of AChR in the postsynaptic membrane. Calcium ions are required for maximal
    AChR clustering. AGRN function in neurons is highly regulated by alternative splicing, glycan binding and
    proteolytic processing. Modulates calcium ion homestasis in neurons, specifically by inducing an increase in
    cytoplasmic calcium ions. Functions differentially in the central nervous system (CNS) by inhibiting the
    alpha(3)-subtype of Na+/K+-ATPase and evoking depolarization at CNS synapses. This secreted isoform forms a
    bridge, after release from motor neurons, to basal lamina through binding laminin via the NtA domain
    Function: Isoform 2: transmembrane form that is the predominate form in neurons of the brain, induces dendritic
    filopodia and synapse formation in mature hippocampal neurons in large part due to the attached glycosaminoglycan
    chains and the action of Rho-family GTPases
    Function: Isoform 1, isoform 4 and isoform 5: neuron-specific (z+) isoforms that contain C-terminal insertions of
    8-19 AA are potent activators of AChR clustering. Isoform 5, agrin (z+8), containing the 8-AA insert, forms a
    receptor complex in myotubules containing the neuronal AGRN, the muscle-specific kinase MUSK and LRP4, a member
    of the LDL receptor family. The splicing factors, NOVA1 and NOVA2, regulate AGRN splicing and production of the
    'z' isoforms
    Function: Isoform 3 and isoform 6: lack any 'z' insert, are muscle-specific and may be involved in endothelial
    cell differentiation
    Function: Agrin N-terminal 110 kDa subunit: is involved in regulation of neurite outgrowth probably due to the
    presence of the glycosaminoglcan (GAG) side chains of heparan and chondroitin sulfate attached to the Ser/Thr-
    and Gly/Ser-rich regions. Also involved in modulation of growth factor signaling (By similarity)
    Function: Agrin C-terminal 22 kDa fragment: this released fragment is important for agrin signaling and to exert a
    maximal dendritic filopodia-inducing effect. All 'z' splice variants (z+) of this fragment also show an increase
    in the number of filopodia

         Genatlas biochemistry entry for AGRN:
    acetylcholine receptor aggregating factor,agrin,component of synaptic basal lamina on the surface of muscle fibers

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002162dystroglycan binding ISS--
    GO:0005200structural constituent of cytoskeleton TAS9652404
    GO:0005509calcium ion binding ISS--
    GO:0005515protein binding IPI--
    GO:0033691sialic acid binding ISS--
         
    AGRN for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Agrn):
     behavior/neurological  growth/size  limbs/digits/tail  mortality/aging  muscle 
     nervous system  normal  renal/urinary system  respiratory system 

    AGRN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for AGRN: Agrntm4Jrs Agrntm1Jrs Agrntm3Jrs Agrntm2Jrs

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AGRN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AGRN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AGRN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AGRN 

    miRNA
    Products:
        
    miRTarBase miRNAs that target AGRN:
    hsa-mir-1 (MIRT001391)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AGRN
    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate AGRN (see all 20):
    hsa-miR-3910 hsa-miR-1321 hsa-miR-520d-5p hsa-miR-128 hsa-miR-16-1* hsa-miR-144 hsa-miR-1184 hsa-miR-4274
    SwitchGear 3'UTR luciferase reporter plasmidAGRN 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AGRN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AGRN

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for AGRN
    Sirion Biotech Customized adenovirus for overexpression of AGRN

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for AGRN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AGRN (NM_198576)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AGRN
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat AGRN

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGRN


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AGRN About   (see all 13)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.44
    ECM proteoglycans0.38
    ECM-receptor interaction0.42
    2MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48
    3Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.56
    HS-GAG degradation0.40
    HS-GAG biosynthesis0.56
    4Visual phototransduction
    Visual phototransduction0.48
    Diseases associated with visual transduction0.47
    Retinoid metabolism and transport0.48
    5Axon guidance
    Axon guidance0.69
    Developmental Biology0.69

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for AGRN
        Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    Agrin Interactions at Neuromuscular Junction

    5/32        Reactome Pathways for AGRN (see all 32)
        Diseases associated with visual transduction
    Developmental Biology
    Chondroitin sulfate/dermatan sulfate metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism


    1         Kegg Pathway  (Kegg details for AGRN):
        ECM-receptor interaction


    AGRN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AGRN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/51 Interacting proteins for AGRN (O004681, 2, 3 ENSP000003686784) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN7O152651, 3EBI-947482,EBI-708350 I2D: score=1 
    PDIA3P301012, 3MINT-4301502 I2D: score=1 
    GFI1BQ5VTD93, ENSP000003447824I2D: score=2 STRING: ENSP00000344782
    DAG1Q141183, ENSP000003124354I2D: score=1 STRING: ENSP00000312435
    ATN1P542593, ENSP000003490764I2D: score=2 STRING: ENSP00000349076
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006024glycosaminoglycan biosynthetic process TAS--
    GO:0006027glycosaminoglycan catabolic process TAS--
    GO:0007165signal transduction TAS9652404

    AGRN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AGRN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AGRN (AGRIN)

    10/19 Novoseek inferred chemical compound relationships for AGRN gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetylcholine 84.8 131 9077444 (2), 12182759 (2), 16256100 (2), 18272689 (2) (see all 99)
    tyrosine 66.2 92 12399462 (4), 7965081 (2), 11278328 (2), 17452444 (2) (see all 58)
    heparan sulfate 63.4 5 9117266 (1), 11340306 (1), 14871397 (1), 9738008 (1) (see all 5)
    heparin 34.7 22 8693000 (5), 9215700 (3), 8607994 (3), 9294861 (2) (see all 11)
    alpha-bungarotoxin 29.6 1 8227074 (1)
    glycosaminoglycan 28.9 6 11761721 (2), 12009503 (1), 19166823 (1)
    sialic acid 11.5 10 10741468 (6)
    serine 8.29 3 15328353 (1), 14691009 (1)
    carbohydrates 6.12 3 17649979 (1), 11988021 (1)
    calcium 5.75 17 10440735 (3), 14622909 (3), 15389602 (3), 11748634 (2) (see all 9)

    Search CenterWatch for drugs/clinical trials and news about AGRN / AGRIN

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AGRN gene: 
    NM_198576.3  

    Unigene Cluster for AGRN:

    Agrin
    Hs.273330  [show with all ESTs]
    Unigene Representative Sequence: NM_198576
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379370(uc001ack.2) ENST00000477585 ENST00000469403 ENST00000479707
    ENST00000466223 ENST00000478677 ENST00000492947 ENST00000419249 ENST00000461111


    miRNA
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    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate AGRN (see all 20):
    hsa-miR-3910 hsa-miR-1321 hsa-miR-520d-5p hsa-miR-128 hsa-miR-16-1* hsa-miR-144 hsa-miR-1184 hsa-miR-4274
    SwitchGear 3'UTR luciferase reporter plasmidAGRN 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB191264.1 AF016903.1 AK021586.1 BC004220.2 BC007649.1 BC034009.1 BC063620.1 BC084578.1 
    S44195.1 U84406.1 

    13 DOTS entries:

    DT.97860457  DT.85105385  DT.100801920  DT.99984146  DT.102833761  DT.121400270  DT.97858399  DT.100038596 
    DT.65288538  DT.85105388  DT.91873136  DT.95317433  DT.101983424 

    24/514 AceView cDNA sequences (see all 514):

    AW189501 AA297384 U84406 AI587098 BU632320 AI914384 BQ918970 AW772177 
    AI434636 BU739414 CA424302 BU684918 BU543727 AW820567 AI017144 R06917 
    BU631309 AW806729 AW614928 AA156776 BU541184 BU849707 CB150544 BU553525 

    GeneLoc Exon Structure

    5/25 Alternative Splicing Database (ASD) splice patterns (SP) for AGRN (see all 25)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17a · 17b ^ 18 ^ 19a · 19b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 20a · 20b ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36a · 36b ·
    SP1:                                                                                                                                      -                     
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 36c ^ 37a · 37b · 37c ^ 38 ^ 39a · 39b ^ 40a · 40b · 40c ^ 41 ^ 42a · 42b ^ 43 ^ 44a · 44b
    SP1:                    -     -     -     -     -                                                   
    SP2:                                                                                                
    SP3:                                                                                                
    SP4:                    -           -     -     -                                                   
    SP5:                                                                                                


    ECgene alternative splicing isoforms for AGRN

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AGRN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTGATTTT
    AGRN Expression
    About this image


    See AGRN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AGRN

    SOURCE GeneReport for Unigene cluster: Hs.273330

    UniProtKB/Swiss-Prot: AGRIN_HUMAN, O00468
    Tissue specificity: Expressed in basement membranes of lung and kidney. Muscle- and neuron-specific isoforms are
    found. Isoforms (y+) with the 4 AA insert and (z+8) isoforms with the 8 AA insert are all neuron-specific.
    Isoforms (z+11) are found in both neuronal and non-neuronal tissues

        SABiosciences Expression via Pathway-Focused PCR Array including AGRN: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for AGRN gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Agrn1 , 5 agrin1, 5 80.38(n)1
    82.34(a)1
      4 (88.55 cM)5
    116031  NM_021604.31  NP_067617.31 
     1561652905 
    chicken
    (Gallus gallus)
    Aves AGRN1 agrin 68.12(n)
    64.81(a)
      396538  NM_205527.1  NP_990858.1 
    lizard
    (Anolis carolinensis)
    Reptilia AGRN6
    Uncharacterized protein
    61(a)
    1 ↔ 1
    GL343925.1(2850-101730)
    zebrafish
    (Danio rerio)
    Actinopterygii hm:gc121 hm:gc12 60.43(n)
    57.33(a)
      565373  NM_001177452.1  NP_001170923.1 
    worm
    (Caenorhabditis elegans)
    Secernentea agr-11 Protein AGR-1 41.72(n)
    34.97(a)
      3565243  NM_001026981.3  NP_001022152.3 


    ENSEMBL Gene Tree for AGRN (if available)
    TreeFam Gene Tree for AGRN (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AGRN gene
    EGFLAM2  HSPG22  
    16 SIMAP similar genes for AGRN using alignment to 6 protein entries:     AGRIN_HUMAN (see all proteins):
    SPOCK2    CPAMD8    SPOCK1    SLIT2    F9    SPINK1
    EGFLAM    LAMB4    FSTL1    MSANTD3-TMEFF1    tmp_locus_3    FSTL4
    FSTL5    DKFZp566D234    FSTL3    WUGSC

    AGRN for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1933 SNPs in AGRN are shown (see all 1933)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0690664
    Myasthenia, limb-girdle, familial (LGM)4--see VAR_0690662 V F mis40--------
    VAR_0687424
    Myasthenia, limb-girdle, familial (LGM)4--see VAR_0687422 G R mis40--------
    rs1994763961,2
    Cpathogenic1985955(+) GCAAGC/GGGGCA 2 R G mis10--------
    VAR_0687444
    ----see VAR_0687442 D N mis40--------
    VAR_0687254
    ----see VAR_0687252 D N mis40--------
    VAR_0687244
    ----see VAR_0687242 V L mis40--------
    VAR_0687414
    ----see VAR_0687412 R P mis40--------
    VAR_0687274
    ----see VAR_0687272 T M mis40--------
    VAR_0687374
    ----see VAR_0687372 P L mis40--------
    VAR_0687264
    ----see VAR_0687262 N I mis40--------

    HapMap Linkage Disequilibrium report for AGRN (955503 - 991496 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/38 variations for AGRN (see all 38):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv2e201CNV Deletion23290073
    esv4415CNV Deletion18987735
    esv2736139CNV Deletion23290073
    esv2741694CNV Deletion23290073
    esv2740583CNV Deletion23290073
    esv2738361CNV Deletion23290073
    esv2674475CNV Deletion23128226
    esv2742805CNV Deletion23290073
    esv2733916CNV Deletion23290073
    esv2743474CNV Deletion23290073


    Human Gene Mutation Database (HGMD): AGRN

    Locus Specific Mutation Databases (LSDB): AGRN
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 103320   
    OMIM disorders: 254300  
    UniProtKB/Swiss-Prot: AGRIN_HUMAN, O00468
  • Myasthenia, limb-girdle, familial (LGM) [MIM:254300]: A congenital myasthenic syndrome characterized by a
    typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal
    acetylcholine receptor and acetylcholinesterase function. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 20/30 diseases for AGRN (see all 30):    About MalaCards
    agrn-related congenital myasthenic syndrome    myasthenia, limb-girdle, familial    hereditary cerebral hemorrhage with amyloidosis    cerebral hemorrhage
    congenital myasthenic syndrome    myasthenia gravis    proteinuria    congenital muscular dystrophy
    brain disease    traumatic brain injury    amyloidosis    brain injury
    morquio syndrome b    liver cirrhosis    muscular dystrophy    nephritis
    cerebritis    alzheimer's disease    glomerulonephritis    macular degeneration

    1 disease from the University of Copenhagen DISEASES database for AGRN:
    Congenital myasthenic syndrome

    AGRN for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/14 Novoseek inferred disease relationships for AGRN gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophies 58.5 3 18957220 (1), 11565031 (1), 18537849 (1)
    myasthenia gravis 33.8 1 17081697 (1)
    senile plaques 32.4 5 10867220 (2), 10673326 (1), 10339611 (1), 11761721 (1)
    diabetic nephropathies 21.6 2 14694155 (1), 11340306 (1)
    brain diseases 19.1 4 10673326 (3), 12458045 (1)
    alzheimers disease 10.8 10 10673326 (3), 11041342 (1), 12270958 (1), 16037493 (1) (see all 8)
    proteinuria 8.48 1 11979342 (1)
    tumors 0.324 12 16983329 (2), 19068466 (2), 17640714 (1), 20519181 (1)
    albuminuria 0 1 10446936 (1)
    genetic disorder 0 1 11754179 (1)

    Genetic Association Database (GAD): AGRN
    Human Genome Epidemiology (HuGE) Navigator: AGRN (1 document)

    Export disorders for AGRN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AGRN gene, integrated from 9 sources (see all 312):
    (articles sorted by number of sources associating them with AGRN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure and high expression of human agrin in basement membranes of adult lung and kidney. (PubMed id 9652404)1, 2, 9 Groffen A.J.A.... Van den Heuvel L.P.W.J. (1998)
    2. Agrin binds to the nerve-muscle basal lamina via laminin. (PubMed id 9151673)1, 2, 9 Denzer A.J.... Ruegg M.A. (1997)
    3. Identification of an agrin mutation that causes conge nital myasthenia and affects synapse function. (PubMed id 19631309)1, 2, 9 HuzAc C....HantaA^ D. (2009)
    4. Agrin in the developing CNS: new roles for a synapse organizer. (PubMed id 12270958)1, 3, 9 Kroger S. and Schroder J.E. (2002)
    5. LG2 agrin mutation causing severe congenital myastheni c syndrome mimics functional characteristics of non-neural (z-) agrin. (PubMed id 22205389)1, 2 Maselli R.A....Ferns M.J. (2012)
    6. Genes related to sex steroids, neural growth, and soc ial-emotional behavior are associated with autistic traits, empathy, and Asperg er syndrome. (PubMed id 19598235)1, 4 Chakrabarti B....Baron-Cohen S. (2009)
    7. Identification of agrinSN isoform and muscle-specific receptor tyrosine kinase (MuSK) [corrected] in sperm. (PubMed id 16487930)1, 2 Kumar P....Meizel S. (2006)
    8. Structure and expression of a rat agrin. (PubMed id 1851019)1, 3 Rupp F....Scheller R.H. (1991)
    9. Comparison of the expression of agrin, a basement membrane heparan sulfate proteoglycan, in cholangiocarcinoma and hepatocellular carcinoma. (PubMed id 17640714)1, 9 Batmunkh E....Kovalszky I. (2007)
    10. Agrin is a high-affinity binding protein of dystroglycan in non-muscle tissue. (PubMed id 9417121)1, 9 Gesemann M....Ruegg M.A. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 375790 HGNC: 329 AceView: AGRN Ensembl:ENSG00000188157 euGenes: HUgn375790
    ECgene: AGRN Kegg: 375790 H-InvDB: AGRN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AGRN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AGRN gene:
    Search GeneIP for patents involving AGRN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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