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    AGRN agrin [ Homo sapiens (human) ]

    Gene ID: 375790, updated on 3-Dec-2024

    Summary

    Official Symbol
    AGRNprovided by HGNC
    Official Full Name
    agrinprovided by HGNC
    Primary source
    HGNC:HGNC:329
    See related
    Ensembl:ENSG00000188157 MIM:103320; AllianceGenome:HGNC:329
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMS8; AGRIN; CMSPPD
    Summary
    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]
    Expression
    Broad expression in kidney (RPKM 31.2), lung (RPKM 13.9) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AGRN in Genome Data Viewer
    Location:
    1p36.33
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1020120..1056116)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (450247..486181)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (955500..991496)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L39 pseudogene 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:948847-949738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:949739-950630 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:950916-951136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18 Neighboring gene ISG15 ubiquitin like modifier Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:956772-957971 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:959156-960132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:960133-961108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:965235-966104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:967845-968714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 22 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:974926-975604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 23 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 24 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:989815-989997 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:994105-994948 Neighboring gene uncharacterized LOC100288175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:995794-996637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:997280-997780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 26 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1000356-1000856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1000857-1001357 Neighboring gene uncharacterized LOC105378948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 27 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 28 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1004678-1005443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1009379-1009878 Neighboring gene ring finger protein 223

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ45064

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables chondroitin sulfate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables dystroglycan binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables heparan sulfate proteoglycan binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables laminin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sialic acid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled acetylcholine receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in clustering of voltage-gated sodium channels TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular junction development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of filopodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of synaptic assembly at neuromuscular junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in receptor clustering IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in receptor clustering IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in receptor clustering IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in synapse organization TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    agrin
    Names
    agrin proteoglycan

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016346.1 RefSeqGene

      Range
      5001..40997
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_198

    mRNA and Protein(s)

    1. NM_001305275.2NP_001292204.1  agrin isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL645608
      UniProtKB/Swiss-Prot
      O00468, Q5SVA1, Q5SVA2, Q60FE1, Q7KYS8, Q8N4J5, Q96IC1, Q9BTD4
      UniProtKB/TrEMBL
      A0A087X208
      Related
      ENSP00000484607.1, ENST00000620552.4
      Conserved Domains (9) summary
      smart00280
      Location:489534
      KAZAL; Kazal type serine protease inhibitors
      smart00200
      Location:11301254
      SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
      cd00054
      Location:18251857
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00104
      Location:421461
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...
      pfam00053
      Location:793835
      Laminin_EGF; Laminin EGF domain
      pfam00054
      Location:19212051
      Laminin_G_1; Laminin G domain
      pfam00008
      Location:13331363
      EGF; EGF-like domain
      pfam03146
      Location:44146
      NtA; Agrin NtA domain
      cl00097
      Location:349389
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...
    2. NM_001364727.2NP_001351656.1  agrin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL645608
      UniProtKB/TrEMBL
      A0A494C0G5
      Related
      ENSP00000498543.1, ENST00000652369.2
      Conserved Domains (8) summary
      smart00280
      Location:384429
      KAZAL; Kazal type serine protease inhibitors
      smart00200
      Location:10251149
      SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
      cd00054
      Location:17201752
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00104
      Location:316356
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...
      pfam00053
      Location:688730
      Laminin_EGF; Laminin EGF domain
      pfam00054
      Location:17971927
      Laminin_G_1; Laminin G domain
      pfam00008
      Location:12281258
      EGF; EGF-like domain
      cl00097
      Location:244284
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...
    3. NM_198576.4NP_940978.2  agrin isoform 2 precursor

      See identical proteins and their annotated locations for NP_940978.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks alternate in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AB191264, AL645608, AW119098, BC007649, CK000983, CN314674, CN314678
      Consensus CDS
      CCDS30551.1
      UniProtKB/TrEMBL
      A0A087X208
      Related
      ENSP00000368678.2, ENST00000379370.7
      Conserved Domains (9) summary
      smart00280
      Location:489534
      KAZAL; Kazal type serine protease inhibitors
      smart00200
      Location:11301254
      SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
      cd00054
      Location:18211853
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00104
      Location:421461
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...
      pfam00008
      Location:13331363
      EGF; EGF-like domain
      pfam00053
      Location:793835
      Laminin_EGF; Laminin EGF domain
      pfam00054
      Location:18982028
      Laminin_G_1; Laminin G domain
      pfam03146
      Location:44146
      NtA; Agrin NtA domain
      cl00097
      Location:349389
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      1020120..1056116
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005244749.4XP_005244806.1  agrin isoform X1

      UniProtKB/TrEMBL
      A0A087X208
      Conserved Domains (9) summary
      smart00280
      Location:489534
      KAZAL; Kazal type serine protease inhibitors
      smart00200
      Location:11301254
      SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
      cd00054
      Location:18251857
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00104
      Location:421461
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...
      pfam00008
      Location:13331363
      EGF; EGF-like domain
      pfam00053
      Location:793835
      Laminin_EGF; Laminin EGF domain
      pfam00054
      Location:19022032
      Laminin_G_1; Laminin G domain
      pfam03146
      Location:44146
      NtA; Agrin NtA domain
      cl00097
      Location:349389
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...
    2. XM_011541429.3XP_011539731.1  agrin isoform X2

      UniProtKB/TrEMBL
      A0A087X208
      Conserved Domains (9) summary
      smart00280
      Location:489534
      KAZAL; Kazal type serine protease inhibitors
      smart00200
      Location:11301254
      SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
      cd00054
      Location:18251857
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00104
      Location:421461
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...
      pfam00008
      Location:13331363
      EGF; EGF-like domain
      pfam00053
      Location:793835
      Laminin_EGF; Laminin EGF domain
      pfam00054
      Location:14001531
      Laminin_G_1; Laminin G domain
      pfam03146
      Location:44146
      NtA; Agrin NtA domain
      cl00097
      Location:349389
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...
    3. XM_047419836.1XP_047275792.1  agrin isoform X3

      UniProtKB/TrEMBL
      A0A087X208
    4. XM_047419838.1XP_047275794.1  agrin isoform X4

    5. XM_047419837.1XP_047275793.1  agrin isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      450247..486181
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336472.1XP_054192447.1  agrin isoform X1

      UniProtKB/TrEMBL
      A0A087X208
    2. XM_054336473.1XP_054192448.1  agrin isoform X2

      UniProtKB/TrEMBL
      A0A087X208
    3. XM_054336474.1XP_054192449.1  agrin isoform X3

      UniProtKB/TrEMBL
      A0A087X208
    4. XM_054336477.1XP_054192452.1  agrin isoform X4

    5. XM_054336476.1XP_054192451.1  agrin isoform X5

    6. XM_054336475.1XP_054192450.1  agrin isoform X4