Gene
agrn
- ID
- ZDB-GENE-030131-1033
- Name
- agrin
- Symbol
- agrn Nomenclature History
- Previous Names
-
- agrin
- hm:gc12
- sb:eu553
- wu:fb57e07
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity and laminin binding activity. Acts upstream of or within anterior/posterior pattern specification; nervous system development; and retina layer formation. Predicted to be located in basement membrane; plasma membrane; and synapse. Predicted to be active in extracellular region. Is expressed in several structures, including immature eye; nervous system; neural tube; notochord; and pronephric duct. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 8. Orthologous to human AGRN (agrin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu553 (13 images)
Wild Type Expression Summary
- All Phenotype Data
- 18 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la022570Tg | Transgenic insertion | Unknown | Unknown | DNA | |
la022571Tg | Transgenic insertion | Unknown | Unknown | DNA | |
p168 | Allele with one delins | Donor Splice Site of Exon 31 | Unknown | CRISPR | |
sa381 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa11435 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa12413 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa15437 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa25196 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa29921 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa43979 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
congenital myasthenic syndrome 8 | Alliance | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects | 615120 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Concanavalin A-like lectin/glucanase domain superfamily | EGF-like calcium-binding domain | EGF-like domain | Factor I / membrane attack complex | Follistatin-like, N-terminal | Kazal domain | Kazal domain superfamily | Laminin G domain | Laminin-type EGF domain | NtA (N-terminal agrin) domain | Protease Inhibitors and Growth Factor Antagonists | SEA domain | SEA domain superfamily | Tissue inhibitor of metalloproteinases-like, OB-fold |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:B3GQ72 | InterPro | 2028 | ||||||||||||||
UniProtKB:A0A0R4IJ40 | InterPro | 1926 | ||||||||||||||
UniProtKB:A0A8M9PT59 | InterPro | 1947 | ||||||||||||||
UniProtKB:A0A8M9PT52 | InterPro | 2052 | ||||||||||||||
UniProtKB:A0A8M9PWK3 | InterPro | 1949 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH73-233L1 | ZFIN Curated Data | |
Contained in | BAC | CH73-313G1 | ZFIN Curated Data | |
Contained in | BAC | CH211-135H16 | ZFIN Curated Data | |
Contained in | BAC | CH211-203J19 | ZFIN Curated Data | |
Contained in | BAC | DKEY-69N13 | ZFIN Curated Data | |
Contained in | BAC | DKEYP-73G7 | ZFIN Curated Data | |
Contained in | Fosmid | CH1073-121E5 | ZFIN Curated Data | |
Contains | SNP | rs3729254 | ZFIN Curated Data | |
Contains | SNP | rs3729255 | ZFIN Curated Data | |
Contains | SNP | rs3729256 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001177452 (1) | 6245 nt | ||
Genomic | RefSeq:NW_018395150 (1) | 316693 nt | ||
Polypeptide | UniProtKB:A0A8M9PKT2 (1) | 2056 aa |
- Comparative Orthology
- Alliance
- Zhang, Y., He, L., Yang, Y., Cao, J., Su, Z., Zhang, B., Guo, H., Wang, Z., Zhang, P., Xie, J., Li, J., Ye, J., Zha, Z., Yu, H., Hong, A., Chen, X. (2023) Triclocarban triggers osteoarthritis via DNMT1-mediated epigenetic modification and suppression of COL2A in cartilage tissues. Journal of hazardous materials. 447:130747130747
- Nikolaou, N., Gordon, P.M., Hamid, F., Taylor, R., Lloyd-Jones, J., Makeyev, E.V., Houart, C. (2022) Cytoplasmic pool of U1 spliceosome protein SNRNP70 shapes the axonal transcriptome and regulates motor connectivity. Current biology : CB. 32(23):5099-5115.e8
- Kuretani, A., Yamamoto, T., Taira, M., Michiue, T. (2021) Evolution of hes gene family in vertebrates: the hes5 cluster genes have specifically increased in frogs. BMC ecology and evolution. 21:147
- Walker, L.J., Roque, R.A., Navarro, M.F., Granato, M. (2021) Agrin/Lrp4 signal constrains MuSK-dependent neuromuscular synapse development in appendicular muscle. Development (Cambridge, England). 148(21):
- Statzer, C., Ewald, C.Y. (2020) The extracellular matrix phenome across species. Matrix biology plus. 8:100039
- Gribble, K.D., Walker, L.J., Saint-Amant, L., Kuwada, J.Y., Granato, M. (2018) The synaptic receptor Lrp4 promotes peripheral nerve regeneration. Nature communications. 9:2389
- Sánchez, E., Azcona, L.J., Paisán-Ruiz, C. (2018) Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways. Molecular neurobiology. 55(8):6734-6754
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Zhang, C., Boa-Amponsem, O., Cole, G.J. (2017) Comparison of molecular marker expression in early zebrafish brain development following chronic ethanol or morpholino treatment. Experimental brain research. 235(8):2413-2423
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
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