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Aliases for AGRN Gene

Aliases for AGRN Gene

  • Agrin 2 3
  • Agrin Proteoglycan 2 3
  • AGRIN 4 5
  • CMSPPD 3
  • CMS8 3

External Ids for AGRN Gene

Previous GeneCards Identifiers for AGRN Gene

  • GC01P000484
  • GC01P000708
  • GC01U900219
  • GC00P9W0144
  • GC01P000996
  • GC01P000946
  • GC01P000226

Summaries for AGRN Gene

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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

GeneCards Summary for AGRN Gene

AGRN (Agrin) is a Protein Coding gene. Diseases associated with AGRN include myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects and presynaptic congenital myasthenic syndromes. Among its related pathways are Degradation of the extracellular matrix and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and laminin binding. An important paralog of this gene is EGFLAM.

UniProtKB/Swiss-Prot for AGRN Gene

  • 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 homeostasis 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.

  • 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.

  • 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.

  • Isoform 3 and isoform 6: lack any z insert, are muscle-specific and may be involved in endothelial cell differentiation.

  • 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).

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGRN Gene

Genomics for AGRN Gene

Regulatory Elements for AGRN Gene

Promoters for AGRN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AGRN on UCSC Golden Path with GeneCards custom track

Genomic Location for AGRN Gene

Chromosome:
1
Start:
1,020,101 bp from pter
End:
1,056,119 bp from pter
Size:
36,019 bases
Orientation:
Plus strand

Genomic View for AGRN Gene

Genes around AGRN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGRN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGRN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGRN Gene

Proteins for AGRN Gene

  • Protein details for AGRN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00468-AGRIN_HUMAN
    Recommended name:
    Agrin
    Protein Accession:
    O00468
    Secondary Accessions:
    • Q5SVA1
    • Q5SVA2
    • Q60FE1
    • Q7KYS8
    • Q8N4J5
    • Q96IC1
    • Q9BTD4

    Protein attributes for AGRN Gene

    Size:
    2067 amino acids
    Molecular mass:
    217232 Da
    Quaternary structure:
    • 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.
    Miscellaneous:
    • Cleaved C-terminal fragments may be used as a biomarker for sarcopenia, age-related progressive loss of skeletal muscle.

    Alternative splice isoforms for AGRN Gene

neXtProt entry for AGRN Gene

Proteomics data for AGRN Gene at MOPED

Post-translational modifications for AGRN Gene

  • 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).
  • 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).
  • Glycosylation at Asn 135, Thr 162, Asn 250, Thr 754, Asn 777, Asn 932, Thr 1275, Ser 1281, Ser 1292, Thr 1294, Ser 1295, Thr 1301, Thr 1302, Thr 1306, Thr 1307, Thr 1312, Thr 1313, Ser 1316, Thr 1540, Thr 1584, Thr 1725, Thr 1815, Ser 1835, Ser 1918, Ser 1931, Thr 1886, and Ser 1750
  • Modification sites at PhosphoSitePlus

Other Protein References for AGRN Gene

Antibody Products

No data available for DME Specific Peptides for AGRN Gene

Domains & Families for AGRN Gene

Gene Families for AGRN Gene

Suggested Antigen Peptide Sequences for AGRN Gene

Graphical View of Domain Structure for InterPro Entry

O00468

UniProtKB/Swiss-Prot:

AGRIN_HUMAN :
  • The NtA domain, absent in TM-agrin, is required for binding laminin and connecting to basal lamina.
Domain:
  • The NtA domain, absent in TM-agrin, is required for binding laminin and connecting to basal lamina.
  • 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).
  • Contains 4 EGF-like domains.
  • Contains 9 Kazal-like domains.
  • Contains 2 laminin EGF-like domains.
  • Contains 3 laminin G-like domains.
  • Contains 1 NtA (N-terminal agrin) domain.
  • Contains 1 SEA domain.
genes like me logo Genes that share domains with AGRN: view

Function for AGRN Gene

Molecular function for AGRN Gene

GENATLAS Biochemistry:
acetylcholine receptor aggregating factor,agrin,component of synaptic basal lamina on the surface of muscle fibers
UniProtKB/Swiss-Prot 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 homeostasis 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.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
Isoform 3 and isoform 6: lack any z insert, are muscle-specific and may be involved in endothelial cell differentiation.
UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for AGRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002162 dystroglycan binding ISS --
GO:0005509 calcium ion binding IEA,ISS --
GO:0043236 laminin binding IEA,TAS 9652404
genes like me logo Genes that share ontologies with AGRN: view
genes like me logo Genes that share phenotypes with AGRN: view

Human Phenotype Ontology for AGRN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AGRN Gene

MGI Knock Outs for AGRN:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AGRN Gene

Localization for AGRN Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGRN Gene

Isoform 1: Secreted, extracellular space, extracellular matrix. Note=Synaptic basal lamina at the neuromuscular junction. {ECO:0000250 UniProtKB:P31696}.
Isoform 2: Cell junction, synapse. Cell membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AGRN Gene COMPARTMENTS Subcellular localization image for AGRN gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
golgi apparatus 4
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for AGRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,TAS --
genes like me logo Genes that share ontologies with AGRN: view

Pathways & Interactions for AGRN Gene

genes like me logo Genes that share pathways with AGRN: view

Gene Ontology (GO) - Biological Process for AGRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0007165 signal transduction TAS 9652404
GO:0007213 G-protein coupled acetylcholine receptor signaling pathway IEA,TAS 9405491
GO:0030198 extracellular matrix organization TAS --
GO:0030204 chondroitin sulfate metabolic process TAS --
genes like me logo Genes that share ontologies with AGRN: view

No data available for SIGNOR curated interactions for AGRN Gene

Drugs & Compounds for AGRN Gene

(8) Drugs for AGRN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(11) Additional Compounds for AGRN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AGRN: view

Transcripts for AGRN Gene

Unigene Clusters for AGRN Gene

Agrin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AGRN Gene

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 ^
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SP15: -
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SP23:
SP24:
SP25:

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:
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SP9: - - - - - - -
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SP19:
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SP24:
SP25:

ExUns: 36c ^ 37a · 37b · 37c ^ 38 ^ 39a · 39b ^ 40a · 40b · 40c ^ 41 ^ 42a · 42b ^ 43 ^ 44a · 44b
SP1: - - - - -
SP2:
SP3:
SP4: - - - -
SP5:
SP6:
SP7:
SP8: - - - - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - - - -
SP17:
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SP19:
SP20:
SP21: - - -
SP22:
SP23:
SP24: -
SP25:

Relevant External Links for AGRN Gene

GeneLoc Exon Structure for
AGRN
ECgene alternative splicing isoforms for
AGRN

Expression for AGRN Gene

mRNA expression in normal human tissues for AGRN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AGRN Gene

This gene is overexpressed in Amniocyte (47.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AGRN Gene



SOURCE GeneReport for Unigene cluster for AGRN Gene Hs.273330

mRNA Expression by UniProt/SwissProt for AGRN Gene

O00468-AGRIN_HUMAN
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.
genes like me logo Genes that share expression patterns with AGRN: view

Protein tissue co-expression partners for AGRN Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for AGRN Gene

Orthologs for AGRN Gene

This gene was present in the common ancestor of animals.

Orthologs for AGRN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AGRN 36
  • 99 (a)
OneToOne
LOC100609326 35
  • 99.01 (n)
  • 99.02 (a)
cow
(Bos Taurus)
Mammalia AGRN 35
  • 84.17 (n)
  • 86.24 (a)
AGRN 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AGRN 36
  • 85 (a)
OneToOne
AGRN 35
  • 83.45 (n)
  • 85.62 (a)
mouse
(Mus musculus)
Mammalia Agrn 36
  • 82 (a)
OneToOne
Agrn 16
Agrn 35
  • 80.3 (n)
  • 82.57 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 70 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia AGRN 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Agrn 35
  • 79.45 (n)
  • 81.61 (a)
chicken
(Gallus gallus)
Aves AGRN 35
  • 67.82 (n)
  • 64.17 (a)
AGRN 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AGRN 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia agrn 35
  • 61.39 (n)
  • 62.66 (a)
zebrafish
(Danio rerio)
Actinopterygii hm:gc12 35
  • 60.96 (n)
  • 58.32 (a)
agrn 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta SP2353 37
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea agr-1 35
  • 41.94 (n)
  • 34.94 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToOne
Species with no ortholog for AGRN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AGRN Gene

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

Paralogs for AGRN Gene

Paralogs for AGRN Gene

genes like me logo Genes that share paralogs with AGRN: view

Variants for AGRN Gene

Sequence variations from dbSNP and Humsavar for AGRN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2465128 -- 1,046,551(+) TCATC(A/G)CGACC nc-transcript-variant, reference, synonymous-codon
rs2465131 -- 1,038,819(+) TTGGA(C/T)AAGGC intron-variant
rs2465132 -- 1,038,976(+) TACAG(C/T)GGCAG intron-variant
rs2465133 -- 1,039,114(+) GGCAG(G/T)TGATA intron-variant
rs2465134 -- 1,039,190(+) GAGAG(G/T)AGCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AGRN Gene

Variant ID Type Subtype PubMed ID
dgv3e1 CNV Complex 17122850
essv4734 CNV CNV 17122850
nsv10161 CNV Gain+Loss 18304495
essv2408 CNV CNV 17122850
nsv517709 CNV Gain+Loss 19592680
nsv428334 CNV Gain 18775914
dgv2n67 CNV Gain 20364138
nsv871883 CNV Gain+Loss 21882294
dgv9n71 CNV Loss 21882294
nsv871547 CNV Loss 21882294
dgv10n71 CNV Loss 21882294
dgv11n71 CNV Loss 21882294
dgv12n71 CNV Loss 21882294
dgv13n71 CNV Loss 21882294
nsv871483 CNV Loss 21882294
nsv509146 CNV Insertion 20534489
dgv14n71 CNV Loss 21882294
dgv15n71 CNV Loss 21882294
nsv871424 CNV Loss 21882294
dgv16n71 CNV Loss 21882294
nsv871557 CNV Gain 21882294
esv29017 CNV Loss 19812545
esv987912 CNV Loss 20482838
esv4415 CNV Deletion 18987735
esv2674475 CNV Deletion 23128226
esv2733916 CNV Deletion 23290073
dgv2e201 CNV Deletion 23290073
esv2736139 CNV Deletion 23290073
esv6517 CNV Loss 19470904
esv2738361 CNV Deletion 23290073
esv2740583 CNV Deletion 23290073
esv2741694 CNV Deletion 23290073
esv1064309 CNV Insertion 17803354
esv2742805 CNV Deletion 23290073
esv2743474 CNV Deletion 23290073
nsv870874 CNV Loss 21882294
nsv871349 CNV Loss 21882294
nsv829425 CNV Loss 20364138

Variation tolerance for AGRN Gene

Residual Variation Intolerance Score: 85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.87; 79.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AGRN Gene

HapMap Linkage Disequilibrium report
AGRN
Human Gene Mutation Database (HGMD)
AGRN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGRN Gene

Disorders for AGRN Gene

MalaCards: The human disease database

(13) MalaCards diseases for AGRN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects
  • myasthenic syndrome, congenital, 8
presynaptic congenital myasthenic syndromes
  • congenital myasthenic syndromes, presynaptic
postsynaptic congenital myasthenic syndromes
  • congenital myasthenic syndromes, postsynaptic
agrn-related congenital myasthenic syndrome
  • agrn-related familial limb-girdle myasthenia syndrome
congenital myasthenic syndrome
  • familial infantile myasthenia 1
- elite association - COSMIC cancer census association via MalaCards
Search AGRN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AGRIN_HUMAN
  • Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS8 is an autosomal recessive disease characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable. {ECO:0000269 PubMed:19631309, ECO:0000269 PubMed:22205389, ECO:0000269 PubMed:24951643}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AGRN

Genetic Association Database (GAD)
AGRN
Human Genome Epidemiology (HuGE) Navigator
AGRN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AGRN
genes like me logo Genes that share disorders with AGRN: view

No data available for Genatlas for AGRN Gene

Publications for AGRN Gene

  1. Primary structure and high expression of human agrin in basement membranes of adult lung and kidney. (PMID: 9652404) Groffen A.J.A. … Van den Heuvel L.P.W.J. (Eur. J. Biochem. 1998) 3 4 23 67
  2. Amyloid beta induces cellular relocalization and production of agrin and glypican-1. (PMID: 19166823) Timmer N.M. … Verbeek M.M. (Brain Res. 2009) 3 23
  3. Agrin and CD34 immunohistochemistry for the discrimination of benign versus malignant hepatocellular lesions. (PMID: 19194276) TA!trai P. … Kovalszky I. (Am. J. Surg. Pathol. 2009) 3 23
  4. Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID: 19631309) Huze C. … Hantai D. (Am. J. Hum. Genet. 2009) 3 23
  5. Comparison of the expression of agrin, a basement membrane heparan sulfate proteoglycan, in cholangiocarcinoma and hepatocellular carcinoma. (PMID: 17640714) Batmunkh E. … Kovalszky I. (Hum. Pathol. 2007) 3 23

Products for AGRN Gene

Sources for AGRN Gene

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