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AGRN (agrin)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
375790
Gene nameGene Name - the full gene name approved by the HGNC.
Agrin
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
AGRN
SynonymsGene synonyms aliases
AGRIN, CMS8, CMSPPD
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.33
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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

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