full name
agrin

synonyms
AGRN, ENSG00000188157

HGNC
HGNC:329

Entrez Gene
Gene:375790

ENSEMBL
ENSG00000188157

location
chr: 1
start: 955503
stop: 991499
strand: +

OMIM
OMIM:103320: AGRN (Autosomal recessive inheritance)
OMIM:615120: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects

transcripts
NM_198576.3

pathways
A tetrasaccharide linker sequence is required for GAG synthesis [NCBI:1269981] [REACTOME:R-HSA-1971475] [PUBMED:4139221] [PUBMED:17239764]
Axon guidance [NCBI:83065] [KEGG:hsa04360] [NCBI:1270303] [REACTOME:R-HSA-422475] [PUBMED:14682358] [PUBMED:11687826] [PUBMED:15084255] [PUBMED:15818466] [PUBMED:12471249] [PUBMED:15363605] [PUBMED:15630019] [PUBMED:11891122] [PUBMED:15960985] [PUBMED:12677003]
Chondroitin sulfate/dermatan sulfate metabolism [NCBI:1269984] [REACTOME:R-HSA-1793185] [PUBMED:12512856] [PUBMED:12213784] [PUBMED:17239764]
Defective B3GALT6 causes EDSP2 and SEMDJL1 [NCBI:1309217] [REACTOME:R-HSA-4420332] [PUBMED:23664118] [PUBMED:23664117]
Defective B3GAT3 causes JDSSDHD [NCBI:1269015] [REACTOME:R-HSA-3560801] [PUBMED:1640425] [PUBMED:14779259] [PUBMED:21763480] [PUBMED:4626580]
Defective B4GALT7 causes EDS, progeroid type [NCBI:1269014] [REACTOME:R-HSA-3560783] [PUBMED:10506123]
Defective EXT1 causes exostoses 1, TRPS2 and CHDS [NCBI:1269021] [REACTOME:R-HSA-3656253] [PUBMED:8558565] [PUBMED:6496574] [PUBMED:2783565] [PUBMED:6015756] [PUBMED:7711731] [PUBMED:7726168]
Defective EXT2 causes exostoses 2 [NCBI:1269022] [REACTOME:R-HSA-3656237] [PUBMED:8558565] [PUBMED:2783565]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases associated with glycosaminoglycan metabolism [NCBI:1269011] [REACTOME:R-HSA-3560782] [PUBMED:23457301]
Diseases of glycosylation [NCBI:1269010] [REACTOME:R-HSA-3781865] [PUBMED:12756558] [PUBMED:22983739] [PUBMED:6543331] [PUBMED:16755287] [PUBMED:12409504] [PUBMED:19765534] [PUBMED:22838182] [PUBMED:2301971] [PUBMED:21384229] [PUBMED:22343051]
ECM proteoglycans [NCBI:1270256] [REACTOME:R-HSA-3000178] [PUBMED:20301236] [PUBMED:21307119]
ECM-receptor interaction [NCBI:83068] [KEGG:hsa04512] [PUBMED:7698997] [PUBMED:12796473] [PUBMED:15036264] [PUBMED:12736199] [PUBMED:15229478] [PUBMED:10617638] [PUBMED:12845610] [PUBMED:12921709] [PUBMED:15381249] [PUBMED:11331578] [PUBMED:12125070] [PUBMED:11572082]
Extracellular matrix organization [NCBI:1270244] [REACTOME:R-HSA-1474244] [PUBMED:21123617] [PUBMED:21917992] [PUBMED:12845610]
Glycosaminoglycan metabolism [NCBI:1269972] [REACTOME:R-HSA-1630316] [PUBMED:18201392] [PUBMED:20301236] [PUBMED:820626]
HS-GAG biosynthesis [NCBI:1269982] [REACTOME:R-HSA-2022928] [PUBMED:9251237] [PUBMED:11102866]
HS-GAG degradation [NCBI:1269983] [REACTOME:R-HSA-2024096] [PUBMED:15647514]
Heparan sulfate/heparin (HS-GAG) metabolism [NCBI:1269980] [REACTOME:R-HSA-1638091] [PUBMED:11102866] [PUBMED:19111581] [PUBMED:9251237] [PUBMED:10716625]
Integrin cell surface interactions [NCBI:1270260] [REACTOME:R-HSA-216083] [PUBMED:15147720] [PUBMED:10215583] [PUBMED:12231361] [PUBMED:8866399] [PUBMED:19273203]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of carbohydrates [NCBI:1269957] [REACTOME:R-HSA-71387]
Metabolism of fat-soluble vitamins [NCBI:1339147] [REACTOME:R-HSA-6806667] [PUBMED:15951480] [PUBMED:22516726] [PUBMED:16011460]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
NCAM signaling for neurite out-growth [NCBI:1270312] [REACTOME:R-HSA-375165] [PUBMED:18760361] [PUBMED:12587671] [PUBMED:15662836] [PUBMED:17975827] [PUBMED:15153429] [PUBMED:12700044]
NCAM1 interactions [NCBI:1270313] [REACTOME:R-HSA-419037] [PUBMED:15662836] [PUBMED:18607724]
Non-integrin membrane-ECM interactions [NCBI:1270254] [REACTOME:R-HSA-3000171] [PUBMED:15039999] [PUBMED:20565253]
Retinoid metabolism and transport [NCBI:1269624] [REACTOME:R-HSA-975634] [PUBMED:11340090] [PUBMED:16011460]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:19648010] [PUBMED:17604717] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:15863030] [PUBMED:21252999] [PUBMED:19379690] [PUBMED:19536106] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:15450248] [PUBMED:15520807] [PUBMED:16939974] [PUBMED:18483217] [PUBMED:18043707] [PUBMED:19762341] [PUBMED:21781017] [PUBMED:17084981] [PUBMED:19619488] [PUBMED:17496910]
Visual phototransduction [NCBI:1269623] [REACTOME:R-HSA-2187338] [PUBMED:15384919] [PUBMED:22074928] [PUBMED:20188572] [PUBMED:21111842] [PUBMED:8382952] [PUBMED:21350678] [PUBMED:22074927] [PUBMED:20430952] [PUBMED:16011460] [PUBMED:11340090] [PUBMED:16688755] [PUBMED:22658984]