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Gene : AGRN Homo sapiens

Name  ? agrin Cytological Location  1p36.33
Brief Description  agrin
description  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]
  • synonyms:
  • uc001ack.3,
  • AGRIN,
  • AGRIN,
  • AGRN,
  • agrin proteoglycan,
  • CMS8,
  • XM_372195,
  • CMSPPD,
  • OTTHUMG00000040778,
  • HGNC:329,
  • NM_198576
  • identifiers:
  • 375790,
  • ENSG00000188157,
  • AGRN

Genome feature

Region: gene ? Length: 36018  
Location: 1:1020102-1056119 Cyto location: 1p36.33


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

976 SN Ps

5 Cross References

19 Data Sets

30 Homologues

0 Located Features

90 Rna Seq Results