Gene
atxn7
- ID
- ZDB-GENE-110621-1
- Name
- ataxin 7
- Symbol
- atxn7 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Acts upstream of or within chordate embryonic development; neuron differentiation; and retina morphogenesis in camera-type eye. Is expressed in blastodisc; immature eye; and nervous system. Used to study coloboma; cone-rod dystrophy; nerve fibre bundle defect; and schizophrenia.
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| spinocerebellar ataxia type 7 | Alliance | Spinocerebellar ataxia 7 | 164500 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ataxin-7-like transcription regulator | SCA7 domain |
|---|---|---|---|---|
| UniProtKB:A0A8M1PSJ1 | InterPro | 812 | ||
| UniProtKB:E7F640 | InterPro | 866 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-140E24 | ZFIN Curated Data | |
| Contained in | BAC | CH211-237B9 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-30J16 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009305965 (1) | 3934 nt | ||
| Genomic | GenBank:BX324130 (1) | 187368 nt | ||
| Polypeptide | UniProtKB:E7F640 (1) | 866 aa |
- Ji, X., Jiang, P., Luo, J., Li, M., Bai, Y., Zhang, J., Han, B. (2020) Identification and characterization of miRNAs involved in cold acclimation of zebrafish ZF4 cells. PLoS One. 15:e0226905
- Thyme, S.B., Pieper, L.M., Li, E.H., Pandey, S., Wang, Y., Morris, N.S., Sha, C., Choi, J.W., Herrera, K.J., Soucy, E.R., Zimmerman, S., Randlett, O., Greenwood, J., McCarroll, S.A., Schier, A.F. (2019) Phenotypic Landscape of Schizophrenia-Associated Genes Defines Candidates and Their Shared Functions. Cell. 177(2):478-491.e20
- Carrillo-Rosas, S., Weber, C., Fievet, L., Messaddeq, N., Karam, A., Trottier, Y. (2018) Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors. Human molecular genetics. 28(6):912-927
- 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
- Yanicostas, C., Barbieri, E., Hibi, M., Brice, A., Stevanin, G., and Soussi-Yanicostas, N. (2012) Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons. PLoS One. 7(11):e50705
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