Gene
espn
- ID
- ZDB-GENE-081105-173
- Name
- espin
- Symbol
- espn Nomenclature History
- Previous Names
-
- si:dkey-77h17.1
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity. Acts upstream of or within cell projection morphogenesis. Predicted to be located in stereocilium. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 36. Orthologous to human ESPN (espin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Desban et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Desban et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| icm26 | Allele with one deletion | Exon 11 | Frameshift | CRISPR | |
| sa10717 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa31679 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa45337 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-espn | (2) | |
| CRISPR2-espn | (2) | |
| CRISPR3-espn | Desban et al., 2019 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 36 | Alliance | Deafness, autosomal recessive 36 | 609006 |
| autosomal recessive nonsyndromic deafness 36 | Alliance | Deafness, neurosensory, without vestibular involvement, autosomal dominant | 609006 |
| ?Usher syndrome, type 1M | 618632 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | Espin and Espin-like domain-containing protein | WH2 domain |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AVH1 | InterPro | 897 | ||||
| UniProtKB:A0A8M3BC25 | InterPro | 895 | ||||
| UniProtKB:A0A8M3AVI9 | InterPro | 891 | ||||
| UniProtKB:B0S4T9 | InterPro | 873 | ||||
| UniProtKB:A0A8M3B569 | InterPro | 874 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-77H17 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001123282 (1) | 2622 nt | ||
| Genomic | GenBank:BX000472 (1) | 172174 nt | ||
| Polypeptide | UniProtKB:A0A8M3B290 (1) | 898 aa |
- Prendergast, A.E., Jim, K.K., Marnas, H., Desban, L., Quan, F.B., Djenoune, L., Laghi, V., Hocquemiller, A., Lunsford, E.T., Roussel, J., Keiser, L., Lejeune, F.X., Dhanasekar, M., Bardet, P.L., Levraud, J.P., van de Beek, D., Vandenbroucke-Grauls, C.M.J.E., Wyart, C. (2023) CSF-contacting neurons respond to Streptococcus pneumoniae and promote host survival during central nervous system infection. Current biology : CB. 33(5):940-956.e10
- 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
- Desban, L., Prendergast, A., Roussel, J., Rosello, M., Geny, D., Wyart, C., Bardet, P.L. (2019) Regulation of the apical extension morphogenesis tunes the mechanosensory response of microvilliated neurons. PLoS Biology. 17:e3000235
- Gao, S., Liu, S., Yao, J., Zhou, T., Li, N., Li, Q., Dunham, R., Liu, Z. (2017) Taste receptors and gustatory associated G proteins in channel catfish, Ictalurus punctatus. Comparative biochemistry and physiology. Part D, Genomics & proteomics. 21:1-9
- 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
- Varshney, G.K., Pei, W., LaFave, M.C., Idol, J., Xu, L., Gallardo, V., Carrington, B., Bishop, K., Jones, M., Li, M., Harper, U., Huang, S.C., Prakash, A., Chen, W., Sood, R., Ledin, J., Burgess, S.M. (2015) High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9. Genome research. 25(7):1030-42
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