AGRN agrin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association between the 110-kDa C-terminal agrin fragment and skeletal muscle decline among community-dwelling older women.
Title: Association between the 110-kDa C-terminal agrin fragment and skeletal muscle decline among community-dwelling older women.
Bioinformatics-based analysis of the roles of basement membrane-related gene AGRN in systemic lupus erythematosus and pan-cancer development.
Title: Bioinformatics-based analysis of the roles of basement membrane-related gene AGRN in systemic lupus erythematosus and pan-cancer development.
The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.
Title: The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.
AGRN promotes lung adenocarcinoma progression by activating Notch signaling pathway and acts as a therapeutic target.
Title: AGRN promotes lung adenocarcinoma progression by activating Notch signaling pathway and acts as a therapeutic target.
Genes encoding agrin (AGRN) and neurotrypsin (PRSS12) are associated with muscle mass, strength and plasma C-terminal agrin fragment concentration.
Title: Genes encoding agrin (AGRN) and neurotrypsin (PRSS12) are associated with muscle mass, strength and plasma C-terminal agrin fragment concentration.
Neuronal Agrin Promotes Proliferation of Primary Human Myoblasts in an Age-Dependent Manner.
Title: Neuronal Agrin Promotes Proliferation of Primary Human Myoblasts in an Age-Dependent Manner.
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Title: Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Myasthenia gravis genome-wide association study implicates AGRN as a risk locus.
Title: Myasthenia gravis genome-wide association study implicates AGRN as a risk locus.
Association between frailty and C-terminal agrin fragment with 3-month mortality following ST-elevation myocardial infarction.
Title: Association between frailty and C-terminal agrin fragment with 3-month mortality following ST-elevation myocardial infarction.
Agrin promotes the proliferation, invasion and migration of rectal cancer cells via the WNT signaling pathway to contribute to rectal cancer progression.
Title: Agrin promotes the proliferation, invasion and migration of rectal cancer cells via the WNT signaling pathway to contribute to rectal cancer progression.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital myasthenic syndrome 8 MedGen: C3808739 OMIM: 615120 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80426 (e-PCR)
- UniSTS:85558

SHGC-74081 (e-PCR)
- UniSTS:79535

D1S2336E (e-PCR)
- UniSTS:147390

D1S282E (e-PCR)
- UniSTS:147415

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

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with collagen-containing extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in lysosomal lumen	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: agrin

Names: agrin proteoglycan

NCBI Reference Sequences (RefSeq)

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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

NG_016346.1 RefSeqGene

Range

5001..40997

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_198

mRNA and Protein(s)

NM_001305275.2 → NP_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:489 → 534

KAZAL; Kazal type serine protease inhibitors

smart00200
Location:1130 → 1254

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin

cd00054
Location:1825 → 1857

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:421 → 461

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:793 → 835

Laminin_EGF; Laminin EGF domain

pfam00054
Location:1921 → 2051

Laminin_G_1; Laminin G domain

pfam00008
Location:1333 → 1363

EGF; EGF-like domain

pfam03146
Location:44 → 146

NtA; Agrin NtA domain

cl00097
Location:349 → 389

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 ...
NM_001364727.2 → NP_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:384 → 429

KAZAL; Kazal type serine protease inhibitors

smart00200
Location:1025 → 1149

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin

cd00054
Location:1720 → 1752

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:316 → 356

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:688 → 730

Laminin_EGF; Laminin EGF domain

pfam00054
Location:1797 → 1927

Laminin_G_1; Laminin G domain

pfam00008
Location:1228 → 1258

EGF; EGF-like domain

cl00097
Location:244 → 284

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 ...
NM_198576.4 → NP_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:489 → 534

KAZAL; Kazal type serine protease inhibitors

smart00200
Location:1130 → 1254

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin

cd00054
Location:1821 → 1853

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:421 → 461

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:1333 → 1363

EGF; EGF-like domain

pfam00053
Location:793 → 835

Laminin_EGF; Laminin EGF domain

pfam00054
Location:1898 → 2028

Laminin_G_1; Laminin G domain

pfam03146
Location:44 → 146

NtA; Agrin NtA domain

cl00097
Location:349 → 389

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

1020120..1056116

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005244749.4 → XP_005244806.1 agrin isoform X1

UniProtKB/TrEMBL

A0A087X208

Conserved Domains (9) summary

smart00280
Location:489 → 534

KAZAL; Kazal type serine protease inhibitors

smart00200
Location:1130 → 1254

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin

cd00054
Location:1825 → 1857

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:421 → 461

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:1333 → 1363

EGF; EGF-like domain

pfam00053
Location:793 → 835

Laminin_EGF; Laminin EGF domain

pfam00054
Location:1902 → 2032

Laminin_G_1; Laminin G domain

pfam03146
Location:44 → 146

NtA; Agrin NtA domain

cl00097
Location:349 → 389

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 ...
XM_011541429.3 → XP_011539731.1 agrin isoform X2

UniProtKB/TrEMBL

A0A087X208

Conserved Domains (9) summary

smart00280
Location:489 → 534

KAZAL; Kazal type serine protease inhibitors

smart00200
Location:1130 → 1254

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin

cd00054
Location:1825 → 1857

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:421 → 461

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:1333 → 1363

EGF; EGF-like domain

pfam00053
Location:793 → 835

Laminin_EGF; Laminin EGF domain

pfam00054
Location:1400 → 1531

Laminin_G_1; Laminin G domain

pfam03146
Location:44 → 146

NtA; Agrin NtA domain

cl00097
Location:349 → 389

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 ...
XM_047419836.1 → XP_047275792.1 agrin isoform X3
XM_047419838.1 → XP_047275794.1 agrin isoform X4
XM_047419837.1 → XP_047275793.1 agrin isoform X4