• Gene id: 375790

Gene Summary

• Gene Symbol: AGRN   Gene   UCSC   Ensembl
• Aliases: AGRIN, CMS8, CMSPPD
• Gene name: agrin
• Alternate names: agrin, agrin proteoglycan,
• Gene location: 1p36.33 (1020101: 1056118)     Exons: 41     NC_000001.11
• Gene summary(Entrez): 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 epiderm
• OMIM: 602323

Protein Summary

• Protein general information: O00468  
  • Name: Agrin [Cleaved into: Agrin N terminal 110 kDa subunit; Agrin C terminal 110 kDa subunit; Agrin C terminal 90 kDa fragment (C90); Agrin C terminal 22 kDa fragment (C22)]
  • Length: 2068  
  • Mass: 217320
  • 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 n
• Sequence:

  MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLK
  GKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVE
  FCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQR
  AQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLR
  RACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGA
  ARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQ
  RAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGRE
  IQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCE
  TCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSG
  SGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGAC
  RGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDR
  CEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPAT
  CAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAP
  STHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAP
  SLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEG
  SNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSV
  RAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATT
  ASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALG
  GGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALAL
  LDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPE
  DQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQ
  CPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRG
  LHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWT
  RVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGR
  QLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDG
  RTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGH
  LQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVG
  PALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP

• Structural information:
  • Protein Domains: (30..15-)
    (/note="NtA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00443-)
    (191..24-)
    (/note="Kazal-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00798-)
    (264..31-)
    (/note="Kazal-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU-)
  • Interpro: IPR013320  IPR001881  IPR013032  IPR000742  IPR003884   IPR003645  IPR002350  IPR036058  IPR002049  IPR001791  IPR004850  IPR000082  IPR036364  IPR008993  
  • Prosite: PS00022 PS01186 PS50026 PS01248 PS50027 PS51465 PS50025 PS51121 PS50024
  • STRING: ENSP00000368678
• Other Databases: GeneCards:  AGRN  Malacards:  AGRN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016358	dendrite development	IBA	biological process
GO:0009887	animal organ morphogenesis	IBA	biological process
GO:0007528	neuromuscular junction development	IBA	biological process
GO:0005604	basement membrane	IBA	cellular component
GO:0043113	receptor clustering	IBA	biological process
GO:0009888	tissue development	IBA	biological process
GO:0008045	motor neuron axon guidance	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0045202	synapse	ISS	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0043395	heparan sulfate proteoglycan binding	ISS	molecular function
GO:0043395	heparan sulfate proteoglycan binding	ISS	molecular function
GO:0043547	positive regulation of GTPase activity	ISS	biological process
GO:0002162	dystroglycan binding	ISS	molecular function
GO:0002162	dystroglycan binding	ISS	molecular function
GO:0051491	positive regulation of filopodium assembly	ISS	biological process
GO:0045887	positive regulation of synaptic growth at neuromuscular junction	ISS	biological process
GO:0035374	chondroitin sulfate binding	ISS	molecular function
GO:0033691	sialic acid binding	ISS	molecular function
GO:0005509	calcium ion binding	ISS	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007213	G protein-coupled acetylcholine receptor signaling pathway	IEA	biological process
GO:0043113	receptor clustering	IEA	biological process
GO:0043236	laminin binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006024	glycosaminoglycan biosynthetic process	TAS	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0006027	glycosaminoglycan catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005604	basement membrane	IEA	cellular component
GO:0008582	regulation of synaptic growth at neuromuscular junction	IEA	biological process
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	TAS	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0043113	receptor clustering	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	IDA	cellular component
GO:0005604	basement membrane	IDA	cellular component
GO:0045162	clustering of voltage-gated sodium channels	TAS	biological process
GO:0043113	receptor clustering	IMP	biological process
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0050808	synapse organization	TAS	biological process
GO:0043236	laminin binding	TAS	molecular function
GO:0007213	G protein-coupled acetylcholine receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0007165	signal transduction	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04512	ECM-receptor interaction

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Congenital myasthenic syndrome	KEGG:H00770
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq