Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
375790
Gene name Gene Name - the full gene name approved by the HGNC.
Agrin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AGRN
Synonyms (NCBI Gene) Gene synonyms aliases
AGRIN, CMS8, CMSPPD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMS8
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.33
Summary Summary of gene provided in NCBI Entrez 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 epiderm
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs113020870 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, synonymous variant, coding sequence variant
rs116836855 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Non coding transcript variant, missense variant, coding sequence variant
rs141603403 C>G,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, non coding transcript variant
rs143324306 G>A Conflicting-interpretations-of-pathogenicity, benign-likely-benign Coding sequence variant, non coding transcript variant, missense variant
rs145444272 G>A Conflicting-interpretations-of-pathogenicity, benign-likely-benign Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001391 hsa-miR-1-3p pSILAC 18668040
MIRT020958 hsa-miR-155-5p Proteomics 17881434
MIRT001391 hsa-miR-1-3p Proteomics;Other 18668040
MIRT031889 hsa-miR-16-5p Proteomics 18668040
MIRT499104 hsa-miR-4323 PAR-CLIP 24398324
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process TAS
GO:0002162 Function Dystroglycan binding ISS
GO:0005200 Function Structural constituent of cytoskeleton TAS 9652404
GO:0005201 Function Extracellular matrix structural constituent RCA 20551380, 27068509, 27559042, 28675934
GO:0005509 Function Calcium ion binding ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
103320 329 ENSG00000188157
Protein
UniProt ID O00468
Protein 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)]
Protein 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
PDB 8S9P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03146 NtA 31 146 Agrin NtA domain Domain
PF07648 Kazal_2 197 242 Kazal-type serine protease inhibitor domain Domain
PF07648 Kazal_2 270 317 Kazal-type serine protease inhibitor domain Domain
PF00050 Kazal_1 335 389 Kazal-type serine protease inhibitor domain Domain
PF07648 Kazal_2 411 461 Kazal-type serine protease inhibitor domain Domain
PF07648 Kazal_2 489 534 Kazal-type serine protease inhibitor domain Domain
PF07648 Kazal_2 552 599 Kazal-type serine protease inhibitor domain Domain
PF07648 Kazal_2 616 669 Kazal-type serine protease inhibitor domain Domain
PF07648 Kazal_2 704 750 Kazal-type serine protease inhibitor domain Domain
PF00053 Laminin_EGF 793 844 Laminin EGF domain Domain
PF00053 Laminin_EGF 847 901 Laminin EGF domain Domain
PF07648 Kazal_2 923 969 Kazal-type serine protease inhibitor domain Domain
PF01390 SEA 1132 1237 SEA domain Family
PF00008 EGF 1333 1365 EGF-like domain Domain
PF00054 Laminin_G_1 1400 1531 Laminin G domain Domain
PF00008 EGF 1553 1584 EGF-like domain Domain
PF00054 Laminin_G_1 1668 1803 Laminin G domain Domain
PF00054 Laminin_G_1 1920 2051 Laminin G domain Domain
Tissue specificity 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
MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPV
QHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPA
PPYLWPAHKNELMLNSSLMRITLRNL
EEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFG
AVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRG
PC
GSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLR
RACARQENVFKKFDGPC
DPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDD
GVTYENDCVMGRSGAARGLLLQKVRSGQC
QGRDQCPEPCRFNAVCLSRRGRPRCSCDRVT
CDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPC
DQAPSPCLGVQCAFGATCA
VKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQC
RFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCE
TCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEAR
AGPCEQAEC
GSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGS
DGVTYSTECELKKARCESQRGLYVAAQGAC
RGPTFAPLPPVAPLHCAQTPYGCCQDNITA
ARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDG
RSGC
TPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPAT
C
AEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQ
ISIQSLGPC
QEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPP
SSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGG
GSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLEL
EGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSV
RAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGV
RRPLQEHVRFMDFDWFPAFITGA
TSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPG
RRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGR
SFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGP
AVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPE
DQAAVALERTFVGAGLRGCIRLLDVNNQRLE
LGIGPGAATRGSGVGECGDHPCLPNPCHG
GAPCQNLEAGRFHCQCPPGRVGPT
CADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGRE
GTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYN
GQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRV
GDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGR
QLL
TPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGL
VEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSL
RTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVA
HREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCL
RDVVVGRHPLH
LLEDAVTKPELRPCPTP
Sequence length 2068
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Myasthenic Syndrome congenital myasthenic syndrome 8, postsynaptic congenital myasthenic syndrome, presynaptic congenital myasthenic syndrome GenCC
Hyperopia Hyperopia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Inhibit 34785582
Adenocarcinoma of Lung Associate 30727821, 31820863, 31847905
Adenocarcinoma of Lung Stimulate 37321467
Adenoma Associate 31852835
Alzheimer Disease Associate 10339611, 10595940
Barrett Esophagus Associate 34785582
Breast Neoplasms Associate 26544852, 28027327
Carcinoma Hepatocellular Associate 31698617
Cartilage Diseases Stimulate 39940775
Charcot Marie Tooth disease X linked recessive 2 Associate 31167812