Gene
ank3a
- ID
- ZDB-GENE-060621-1
- Name
- ankyrin 3a
- Symbol
- ank3a Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to be involved in protein localization to plasma membrane. Predicted to act upstream of or within signal transduction. Predicted to be located in several cellular components, including T-tubule; lysosome; and postsynaptic membrane. Is expressed in heart; lens; and retinal ganglion cell layer. Human ortholog(s) of this gene implicated in alcohol-related birth defects; autosomal recessive intellectual developmental disorder 37; bipolar disorder; post-traumatic stress disorder; and schizophrenia. Orthologous to human ANK3 (ankyrin 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Owen et al., 2022
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la013059Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la019978Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la019979Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la019980Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la019981Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la027822Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa9548 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13397 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15975 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17048 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-ank3a | N/A | Voas et al., 2009 |
| MO2-ank3a | N/A | Owen et al., 2022 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive intellectual developmental disorder 37 | Alliance | Intellectual developmental disorder, autosomal recessive 37 | 615493 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ankyrin-3, death domain | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | Ankyrin, UPA domain | Death domain | Death-like domain superfamily | Multifunctional Ankyrin Repeat Domain-Containing Protein | ZU5 domain |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9Q287 | InterPro | 4486 | ||||||||
| UniProtKB:A0A8M3AJS7 | InterPro | 3692 | ||||||||
| UniProtKB:A0A8M9PVB2 | InterPro | 4463 | ||||||||
| UniProtKB:A0A8M3AR97 | InterPro | 4499 | ||||||||
| UniProtKB:A0A8M3ARB3 | InterPro | 4180 |
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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 | CH73-239N21 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-29H4 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009292989 (1) | 15918 nt | ||
| Genomic | RefSeq:NW_018394983 (1) | 273719 nt | ||
| Polypeptide | UniProtKB:A0A8M3AR97 (1) | 4499 aa |
- Owen, N., Toms, M., Young, R.M., Eintracht, J., Sarkar, H., Brooks, B.P., Moosajee, M., Genomics England Research Consortium (2022) Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis. Genetics in medicine : official journal of the American College of Medical Genetics. 24(5):1073-1084
- Gou, D., Zhou, J., Song, Q., Wang, Z., Bai, X., Zhang, Y., Zuo, M., Wang, F., Chen, A., Yousaf, M., Yang, Z., Peng, H., Li, K., Xie, W., Tang, J., Yao, Y., Han, M., Ke, T., Chen, Q., Xu, C., Wang, Q. (2020) Mog1 knockout causes cardiac hypertrophy and heart failure by downregulating tbx5-cryab-hspb2 signaling in zebrafish. Acta physiologica (Oxford, England). 231(3):e13567
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Voas, M.G., Glenn, T.D., Raphael, A.R., and Talbot, W.S. (2009) Schwann Cells Inhibit Ectopic Clustering of Axonal Sodium Channels. The Journal of neuroscience : the official journal of the Society for Neuroscience. 29(46):14408-14414
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Lagerstrom, M.C., Fredriksson, R., Bjarnadottir, T.K., Fridmanis, D., Holmquist, T., Andersson, J., Yan, Y.L., Raudsepp, T., Zoorob, R., Kukkonen, J.P., Lundin, L.G., Klovins, J., Chowdhary, B.P., Postlethwait, J.H., and Schioth, H.B. (2005) Origin of the prolactin-releasing hormone (PRLH) receptors: evidence of coevolution between PRLH and a redundant neuropeptide Y receptor during vertebrate evolution. Genomics. 85(6):688-703
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