Gene
ush2a
- ID
- ZDB-GENE-060503-794
- Name
- Usher syndrome 2A (autosomal recessive, mild)
- Symbol
- ush2a Nomenclature History
- Previous Names
-
- si:ch211-279e11.1
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including camera-type eye photoreceptor cell differentiation; phototransduction, visible light; and response to auditory stimulus. Predicted to be located in extracellular region and membrane. Predicted to be active in basement membrane. Is expressed in eye; macula; and photoreceptor cell. Used to study Usher syndrome type 2; Usher syndrome type 2A; and retinitis pigmentosa. Human ortholog(s) of this gene implicated in Usher syndrome (multiple); nonsyndromic deafness; and retinitis pigmentosa (multiple). Orthologous to human USH2A (usherin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 33 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| b1245 | Allele with one delins | Exon 71 | Premature Stop | CRISPR | |
| hzu6 | Allele with one deletion | Unknown | Unknown | TALEN | |
| la013102Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la013103Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la020061Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la020062Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la020063Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la027842Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la027843Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| rmc1 | Allele with one delins | Exon 13 | Frameshift, Premature Stop | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| retinitis pigmentosa 39 | Alliance | Retinitis pigmentosa 39 | 613809 |
| Usher syndrome type 2A | Alliance | Usher syndrome, type 2A | 276901 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Concanavalin A-like lectin/glucanase domain superfamily | EGF-like domain | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin-like fold | LamG-like jellyroll fold | Laminin G domain | Laminin, N-terminal | Laminin-type EGF domain | Receptor-type Tyrosine-protein Phosphatases/Ushers |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3ARH7
|
5243 |
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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 | CH211-203P17 | ZFIN Curated Data | |
| Contained in | BAC | CH211-214O2 | ZFIN Curated Data | |
| Contained in | BAC | CH211-279E11 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-46N18 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009293147 (1) | |||
| Genomic | GenBank:AL845481 (1) | 237313 nt | ||
| Polypeptide | UniProtKB:A0A8M3ARH7 (1) | 5243 aa |
- Han, S., Wang, Q., Cheng, M., Hu, Y., Liu, P., Hou, W., Liang, L. (2023) The effects of ush2a gene knockout on vesicle transport in photoreceptors. Gene. 892:147885
- Schellens, R.T.W., Broekman, S., Peters, T., Graave, P., Malinar, L., Venselaar, H., Kremer, H., De Vrieze, E., Van Wijk, E. (2023) A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa. Molecular therapy. Nucleic acids. 32:980994980-994
- Toms, M., Toualbi, L., Almeida, P.V., Harbottle, R., Moosajee, M. (2023) Successful large gene augmentation of USH2A with non-viral episomal vectors. Molecular therapy : the journal of the American Society of Gene Therapy. 31(9):2755-2766
- Reurink, J., de Vrieze, E., Li, C.H.Z., van Berkel, E., Broekman, S., Aben, M., Peters, T., Oostrik, J., Neveling, K., Venselaar, H., Ramos, M.G., Gilissen, C., Astuti, G.D.N., Galbany, J.C., van Lith-Verhoeven, J.J.C., Ockeloen, C.W., Haer-Wigman, L., Hoyng, C.B., Cremers, F.P.M., Kremer, H., Roosing, S., van Wijk, E. (2022) Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant. NPJ genomic medicine. 7:37
- de Vrieze, E., de Bruijn, S.E., Reurink, J., Broekman, S., van de Riet, V., Aben, M., Kremer, H., van Wijk, E. (2021) Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes. International Journal of Molecular Sciences. 22(17):
- Dulla, K., Slijkerman, R., van Diepen, H.C., Albert, S., Dona, M., Beumer, W., Turunen, J.J., Chan, H.L., Schulkens, I.A., Vorthoren, L., Besten, C.D., Buil, L., Schmidt, I., Miao, J., Venselaar, H., Zang, J., Neuhauss, S.C.F., Peters, T., Broekman, S., Pennings, R., Kremer, H., Platenburg, G., Adamson, P., de Vrieze, E., van Wijk, E. (2021) Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations. Molecular therapy : the journal of the American Society of Gene Therapy. 29(8):2441-2455
- Hsu, P.J., Wang, H.D., Tseng, Y.C., Pan, S.W., Sampurna, B.P., Jong, Y.J., Yuh, C.H. (2021) L-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish. Journal of Biomedical Science. 28:8
- Toms, M., Dubis, A.M., de Vrieze, E., Tracey-White, D., Mitsios, A., Hayes, M., Broekman, S., Baxendale, S., Utoomprurkporn, N., Bamiou, D., Bitner-Glindzicz, M., Webster, A.R., Van Wijk, E., Moosajee, M. (2020) Clinical and preclinical therapeutic outcome metrics for USH2A-related disease. Human molecular genetics. 29(11):1882-1899
- Dona, M., Slijkerman, R., Lerner, K., Broekman, S., Wegner, J., Howat, T., Peters, T., Hetterschijt, L., Boon, N., de Vrieze, E., Sorusch, N., Wolfrum, U., Kremer, H., Neuhauss, S., Zang, J., Kamermans, M., Westerfield, M., Phillips, J., van Wijk, E. (2018) Usherin defects lead to early-onset retinal dysfunction in zebrafish. Experimental Eye Research. 173:148-159
- Han, S., Liu, X., Xie, S., Gao, M., Liu, F., Yu, S., Sun, P., Wang, C., Archacki, S., Lu, Z., Hu, X., Qin, Y., Qu, Z., Huang, Y., Lv, Y., Tu, J., Li, J., Yimer, T.A., Jiang, T., Tang, Z., Luo, D., Chen, F., Liu, M. (2018) Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy. Human genetics. 137(10):779-794
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