AGRN Gene (Protein Coding)

Agrin

GC01P001020
GIFtS:
45
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... See more...

Aliases for AGRN Gene

Aliases for AGRN Gene

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

External Ids for AGRN Gene

Previous HGNC Symbols for AGRN Gene

  • AGRIN

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 and Presynaptic Congenital Myasthenic Syndromes. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview and Chondroitin sulfate/dermatan sulfate metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and laminin binding. An important paralog of this gene is LAMB2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for AGRN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AGRN Gene

Genomics for AGRN Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AGRN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AGRN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AGRN

Top Transcription factor binding sites by QIAGEN in the AGRN gene promoter:
  • CREB
  • deltaCREB
  • MyoD
  • p53
  • STAT3

Genomic Locations for AGRN Gene

Latest Assembly
chr1:1,020,102-1,056,119
(GRCh38/hg38)
Size:
36,018 bases
Orientation:
Plus strand

Previous Assembly
chr1:955,500-991,496
(GRCh37/hg19 by Entrez Gene)
Size:
35,997 bases
Orientation:
Plus strand

chr1:955,503-991,496
(GRCh37/hg19 by Ensembl)
Size:
35,994 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 Structure • Gene Density

RefSeq DNA sequence for AGRN Gene

Proteins for AGRN Gene

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  • 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:
    2068 amino acids
    Molecular mass:
    217320 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.
    • [Isoform 2]: Produced by usage of an alternative first exon.

    Alternative splice isoforms for AGRN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGRN Gene

Protein Expression for AGRN Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AGRN Gene

  • 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).
  • 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).
  • Glycosylation at Asn135, Asn250, Thr159, Thr162, Thr167, Thr754, Asn777, Asn932, Thr1274, Thr1275, Ser1277, Ser1281, Ser1282, Thr1285, Ser1292, Thr1294, Ser1295, Thr1301, Thr1302, Thr1306, Thr1307, Thr1312, Thr1313, Ser1316, Thr1540, Thr1584, Thr1720, Thr1725, Thr1815, Ser1835, Ser1913, Ser1919, Thr1922, Thr1925, and Ser1932
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • AGRIN_HUMAN (998)

Other Protein References for AGRN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AGRN Gene

Domains & Families for AGRN Gene

Gene Families for AGRN Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for AGRN Gene

InterPro:
Blocks:
  • Type I EGF
  • EGF-like calcium-binding
  • Protease inhibitor, Kazal-type
  • Laminin G
  • Laminin G, subdomain 1
  • SEA domain
  • Protein of unknown function UPF0033

Suggested Antigen Peptide Sequences for AGRN Gene

GenScript: Design optimal peptide antigens:
  • Agrin (AGRIN_HUMAN)
  • Agrin (Q15952_HUMAN)
  • Agrin (Q5SVA1_HUMAN)
  • AGRN protein (Q5XG79_HUMAN)
  • Agrin (Q96QF8_HUMAN)

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).
genes like me logo Genes that share domains with AGRN: view

Function for AGRN Gene

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  6. Cell Lines for research

Molecular function for AGRN Gene

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.
GENATLAS Biochemistry:
acetylcholine receptor aggregating factor,agrin,component of synaptic basal lamina on the surface of muscle fibers

Phenotypes From GWAS Catalog for AGRN Gene

Gene Ontology (GO) - Molecular Function for AGRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002162 dystroglycan binding ISS --
GO:0005200 structural constituent of cytoskeleton TAS 9652404
GO:0005201 extracellular matrix structural constituent RCA 20551380
GO:0005509 calcium ion binding IEA,ISS --
GO:0005515 protein binding IEA,IPI 9417121
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGRN

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGRN gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
lysosome 4
golgi apparatus 4
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AGRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IEA,IDA 9405491
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane IEA,TAS --
GO:0016020 membrane IEA --
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

Pathways by source for AGRN Gene

1 BioSystems pathway for AGRN Gene
1 KEGG pathway for AGRN Gene
2 Qiagen pathways for AGRN Gene
  • Agrin Interactions at Neuromuscular Junction
  • Muscular Dystrophies and Dystrophin-Glycoprotein Complex

SIGNOR curated interactions for AGRN Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for AGRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006024 glycosaminoglycan biosynthetic process TAS --
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0007010 cytoskeleton organization IEA --
GO:0007165 signal transduction TAS 9652404
genes like me logo Genes that share ontologies with AGRN: view

Drugs & Compounds for AGRN Gene

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(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

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mRNA/cDNA for AGRN Gene

3 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGRN

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 ^
SP1:
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SP3:
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SP6: -
SP7:
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SP9: - - - - - - - - - - - - - - - - -
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SP15: -
SP16:
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SP19:
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SP22:
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:
SP3:
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SP5:
SP6:
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SP9: - - - - - - -
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SP17:
SP18:
SP19:
SP20:
SP21:
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SP23:
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:
SP18:
SP19:
SP20:
SP21: - - -
SP22:
SP23:
SP24: -
SP25:

Relevant External Links for AGRN Gene

GeneLoc Exon Structure for
AGRN

Expression for AGRN Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AGRN Gene

mRNA expression in normal human tissues for AGRN Gene
mRNA expression by BioGPS for AGRN GenemRNA expression by GTEx 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, MaxQB, and MOPED for AGRN Gene



Protein tissue co-expression partners for AGRN Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGRN

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.

Evidence on tissue expression from TISSUES for AGRN Gene

  • Nervous system(4.8)
  • Eye(4.7)
  • Kidney(4.7)
  • Intestine(4.6)
  • Liver(4.5)
  • Heart(3.8)
  • Lung(3.4)
  • Pancreas(3)
  • Skin(3)
  • Muscle(2.9)
  • Gall bladder(2.5)
  • Adrenal gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AGRN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • kidney
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with AGRN: view

Primer products for research

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 LOC100609326 29
  • 99.01 (n)
AGRN 30
  • 99 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia AGRN 29 30
  • 84.17 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia AGRN 29 30
  • 83.45 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Agrn 29 16 30
  • 80.3 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Agrn 29
  • 79.45 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 73 (a)
 OneToMany
-- 30
  • 70 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia AGRN 30
  • 63 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves AGRN 29 30
  • 67.82 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia AGRN 30
  • 61 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia agrn 29
  • 61.39 (n)
Zebrafish
(Danio rerio)
 Actinopterygii hm:gc12 29
  • 60.96 (n)
agrn 30
  • 54 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta SP2353 31
  • 29 (a)
Worm
(Caenorhabditis elegans)
 Secernentea agr-1 29
  • 41.94 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 34 (a)
 OneToOne
Species where no ortholog for AGRN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AGRN: view image
Alliance of Genome Resources:
Additional Orthologs for AGRN

Paralogs for AGRN Gene

Paralogs for AGRN Gene

(16) SIMAP similar genes for AGRN Gene using alignment to 6 proteins:

  • AGRIN_HUMAN
  • H0Y5U1_HUMAN
  • Q15952_HUMAN
  • Q5XG79_HUMAN
  • Q96QF8_HUMAN
  • Q96QF9_HUMAN
genes like me logo Genes that share paralogs with AGRN: view

Variants for AGRN Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AGRN Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1000690 Uncertain Significance: Myasthenic syndrome, congenital, 8 1,040,816(+) C/T
NM_198576.4(AGRN):c.663C>T (p.Cys221=) 		SYNONYMOUS
1000752 Uncertain Significance: Myasthenic syndrome, congenital, 8 1,050,002(+) G/A
NM_198576.4(AGRN):c.4844G>A (p.Cys1615Tyr) 		MISSENSE
1000760 Uncertain Significance: Myasthenic syndrome, congenital, 8 1,022,370(+) T/C
NM_198576.4(AGRN):c.371T>C (p.Leu124Pro) 		MISSENSE
1001020 Uncertain Significance: Myasthenic syndrome, congenital, 8 1,046,248(+) G/A
NM_198576.4(AGRN):c.2894G>A (p.Ser965Asn) 		MISSENSE
1003556 Uncertain Significance: Myasthenic syndrome, congenital, 8 1,046,605(+) G/A
NM_198576.4(AGRN):c.3120G>A (p.Thr1040=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AGRN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv14e59 CNV duplication 20981092
dgv17n54 CNV loss 21841781
dgv18n54 CNV loss 21841781
dgv19n54 CNV loss 21841781
dgv20n54 CNV loss 21841781
dgv2n67 CNV gain 20364138
dgv5n100 CNV gain 25217958
esv1064309 CNV insertion 17803354
esv2674475 CNV deletion 23128226
esv2762302 CNV gain 21179565
esv2853792 CNV deletion 24192839
esv29017 CNV loss 19812545
esv3561092 CNV deletion 23714750
esv3562203 CNV deletion 23714750
esv3584989 CNV gain 21293372
esv4415 CNV loss 18987735
esv6517 CNV loss 19470904
esv987912 CNV loss 20482838
nsv1013524 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1073573 CNV deletion 25765185
nsv1073577 CNV deletion 25765185
nsv1074422 CNV deletion 25765185
nsv1125446 CNV tandem duplication 24896259
nsv1137176 CNV deletion 24896259
nsv1142738 CNV deletion 24896259
nsv1143425 CNV deletion 24896259
nsv1160644 CNV deletion 26073780
nsv1160772 CNV duplication 26073780
nsv428334 CNV gain 18775914
nsv482937 CNV loss 15286789
nsv509146 CNV insertion 20534489
nsv517709 CNV gain+loss 19592680
nsv544895 CNV loss 21841781
nsv544937 CNV loss 21841781
nsv829425 CNV loss 20364138
nsv945741 CNV duplication 23825009
nsv950451 CNV deletion 24416366

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)

Additional Variant Information for AGRN Gene

Human Gene Mutation Database (HGMD)
AGRN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGRN
Leiden Open Variation Database (LOVD)
AGRN

SNP Genotyping and Copy Number Assays for research

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

Disorders for AGRN Gene

MalaCards: The human disease database

(31) MalaCards diseases for AGRN Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 8
  • cms8
presynaptic congenital myasthenic syndromes
  • presynaptic congenital myasthenic syndrome
postsynaptic congenital myasthenic syndromes
  • congenital myasthenic syndromes, postsynaptic
congenital myasthenic syndrome
  • congenital myasthenic syndromes
myasthenia gravis
  • mg
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for AGRN

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with AGRN: view

No data available for Genatlas for AGRN Gene

Publications for AGRN Gene

  1. Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID: 19631309) Huzé C … Hantaï D (American journal of human genetics 2009) 3 4 22 72
  2. LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. (PMID: 22205389) Maselli RA … Ferns MJ (Human genetics 2012) 3 4 72
  3. Primary structure and high expression of human agrin in basement membranes of adult lung and kidney. (PMID: 9652404) Groffen AJ … van den Heuvel LP (European journal of biochemistry 1998) 3 4 22
  4. Agrin binds to the nerve-muscle basal lamina via laminin. (PMID: 9151673) Denzer AJ … Ruegg MA (The Journal of cell biology 1997) 3 4 22
  5. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. (PMID: 24951643) Nicole S … Lochmüller H (Brain : a journal of neurology 2014) 3 4

ExternalLinks

View latest publications for AGRN gene in Mastermind

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