Gene
actn2b
- ID
- ZDB-GENE-051127-39
- Name
- actinin, alpha 2b
- Symbol
- actn2b Nomenclature History
- Previous Names
-
- actn2
- wu:fd44c03
- zgc:123223
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity. Acts upstream of or within eye development; heart development; and striated muscle cell development. Predicted to be located in cytoplasm. Predicted to be active in several cellular components, including Z disc; cell junction; and cortical actin cytoskeleton. Is expressed in several structures, including brain; cardiovascular system; eye; muscle; and ovary. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; congenital myopathy 8; and dilated cardiomyopathy 1AA. Orthologous to human ACTN2 (actinin alpha 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
sa274 | Allele with one point mutation | Unknown | Stop Loss, Premature Stop | ENU | |
sa36379 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa36380 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa42906 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
MO1-actn2b | N/A | (2) |
MO2-actn2b | N/A | Gupta et al., 2012 |
MO3-actn2b | N/A | Gupta et al., 2012 |
MO4-actn2b | N/A | Yang et al., 2012 |
MO5-actn2b | N/A | Yang et al., 2012 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
congenital myopathy 8 | Alliance | Congenital myopathy 8 | 618654 |
dilated cardiomyopathy 1AA | Alliance | Cardiomyopathy, dilated, 1AA, with or without LVNC | 612158 |
dilated cardiomyopathy 1AA | Alliance | Cardiomyopathy, hypertrophic, 23, with or without LVNC | 612158 |
Myopathy, distal, 6, adult onset | 618655 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | EF-hand, Ca insensitive | EF-hand domain | EF-hand domain pair | Spectrin/alpha-actinin | Spectrin repeat |
---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q2YDR5 | InterPro | 895 | ||||||||
UniProtKB:A0AB32T5N7 | InterPro | 928 | ||||||||
UniProtKB:A0A8M1N882 | InterPro | 895 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
aberrant processed transcript |
actn2b-201
(1)
|
Ensembl | 2,470 nt | ||
mRNA |
actn2b-202
(1)
|
Ensembl | 2,986 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
---|---|---|---|---|---|
Tg(myl7:actn2b-Eos) |
|
| 1 | Chiba et al., 2017 | |
Tg(ttn.2:actn2-EGFP) |
|
| 1 | (6) |
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Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-248A14 | ZFIN Curated Data | |
Contained in | BAC | DKEY-13B19 | ZFIN Curated Data | |
Encodes | EST | fd44c03 | ||
Encodes | cDNA | MGC:123223 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001037573 (1) | 5314 nt | ||
Genomic | GenBank:BX005070 (1) | 242955 nt | ||
Polypeptide | UniProtKB:A0AB32T5N7 (1) | 928 aa |
- Rostad, K.O., Trognitz, T., Frøyset, A.K., Bifulco, E., Fladmark, K.E. (2024) Accelerated Sarcopenia Phenotype in the DJ-1/Park7-Knockout Zebrafish. Antioxidants (Basel, Switzerland). 13(12):
- Li, L.P., Zhong, J., Li, M.H., Sun, Y.C., Niu, Y.J., Wu, C.H., Zhou, J.F., Norton, N., Li, Z.Q., Shi, Y.Y., Xu, X.L., Ding, Y.H. (2021) Disruption of MAP7D1 Gene Function Increases the Risk of Doxorubicin-Induced Cardiomyopathy and Heart Failure. BioMed Research International. 2021:8569921
- Boswell, M., Boswell, W., Lu, Y., Savage, M., Walter, R.B. (2020) Deconvoluting Wavelengths Leading to Fluorescent Light Induced Inflammation and Cellular Stress in Zebrafish (Danio rerio). Scientific Reports. 10:3321
- Han, C.R., Wang, H., Hoffmann, V., Zerfas, P., Kruhlak, M., Cheng, S.Y. (2020) Thyroid hormone receptor α mutations cause heart defects in zebrafish. Thyroid : official journal of the American Thyroid Association. 31(2):315-326
- Ma, X., Zhu, P., Ding, Y., Zhang, H., Qiu, Q., Dvornikov, A.V., Wang, Z., Kim, M., Wang, Y., Lowerison, M., Yu, Y., Norton, N., Herrmann, J., Ekker, S.C., Hsiai, T.K., Lin, X., Xu, X. (2020) Retinoid X receptor alpha is a spatiotemporally predominant therapeutic target for anthracycline-induced cardiotoxicity. Science advances. 6:eaay2939
- Dragojević, J., Mihaljević, I., Popović, M., Zaja, R., Smital, T. (2018) In vitro characterization of zebrafish (Danio rerio) organic anion transporters Oat2a-e. Toxicology in vitro : an international journal published in association with BIBRA. 46:246-256
- 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
- Chiba, A., Watanabe-Takano, H., Terai, K., Fukui, H., Miyazaki, T., Uemura, M., Hashimoto, H., Hibi, M., Fukuhara, S., Mochizuki, N. (2017) Osteocrin, a peptide secreted from the heart and other tissues, contributes to cranial osteogenesis and chondrogenesis in zebrafish. Development (Cambridge, England). 144(2):334-344
- Fan, Z., Liu, L., Huang, X., Zhao, Y., Zhou, L., Wang, D., Wei, J. (2017) Establishment and growth responses of Nile tilapia embryonic stem-like cell lines under feeder-free condition. Development, growth & differentiation. 59(2):83-93
- Qian, Y., Wang, C., Wang, J., Zhang, X., Zhou, Z., Zhao, M., Lu, C. (2017) Fipronil-induced enantioselective developmental toxicity to zebrafish embryo-larvae involves changes in DNA methylation. Scientific Reports. 7:2284
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