Gene
actb2
- ID
- ZDB-GENE-000329-3
- Name
- actin, beta 2
- Symbol
- actb2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable ATP binding activity. Predicted to be located in several cellular components, including cytoskeleton; dense body; and focal adhesion. Is expressed in several structures, including brain; eye; integument; musculature system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Baraitser-Winter syndrome 1; Baraitser-Winter syndrome 2; and autosomal dominant nonsyndromic deafness 20. Orthologous to several human genes including ACTB (actin beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 23 figures from 18 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56040 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-actb2 | Parvez et al., 2021 | |
| CRISPR2-actb2 | Parvez et al., 2021 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Baraitser-Winter syndrome 1 | Alliance | Baraitser-Winter syndrome 1 | 243310 |
| Becker nevus, syndromic or isolated, somatic mosaic | 604919 | ||
| Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic | 620470 | ||
| Dystonia-deafness syndrome 1 | 607371 | ||
| Thrombocytopenia 8, with dysmorphic features and developmental delay | 620475 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Actin/actin-like conserved site | Actin, conserved site | Actin family | ATPase, nucleotide binding domain |
|---|---|---|---|---|---|
|
UniProtKB:Q7ZVF9
|
375 | ||||
|
UniProtKB:A8WG05
|
375 |
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Interactions and Pathways
No data available
Plasmids
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-255L18 | ZFIN Curated Data | |
| Encodes | EST | fa56g06 | ZFIN Curated Data | |
| Encodes | EST | fb38a10 | ZFIN Curated Data | |
| Encodes | EST | fj16d08 | ||
| Encodes | cDNA | MGC:56040 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:85665 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:172104 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192911 | ZFIN Curated Data | |
| Has Artifact | EST | fb12f11 | ||
| Is Hybridized by | EST | fj81g03 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_181601 (1) | 1786 nt | ||
| Genomic | GenBank:AL929031 (2) | 187548 nt | ||
| Polypeptide | UniProtKB:A8WG05 (1) | 375 aa |
- Du, Q., Shao, R., Wang, W., Zhang, H., Liao, X., Wang, Z., Yin, Z., Ai, Q., Mai, K., Tang, X., Wan, M. (2024) Vitamin D3 Regulates Energy Homeostasis under Short-Term Fasting Condition in Zebrafish (Danio Rerio). Nutrients. 16(9):
- Morikawa, M., Yamaguchi, H., Kikkawa, M. (2024) Calaxin is a key factor for calcium-dependent waveform control in zebrafish sperm. Life science alliance. 7(9):
- Bernal-Bermúdez, B., Martínez-López, A., Martínez-Morcillo, F.J., Tyrkalska, S.D., Martínez-Menchón, T., Mesa-Del-Castillo, P., Cayuela, M.L., Mulero, V., García-Moreno, D. (2023) A zebrafish model of Ifih1-driven Aicardi-Goutières syndrome reproduces the interferon signature and the exacerbated inflammation of patients. Frontiers in immunology. 14:12947661294766
- Canham, L., Sendac, S., Diagbouga, M.R., Wolodimeroff, E., Pirri, D., Tardajos Ayllon, B., Feng, S., Souilhol, C., Chico, T.J.A., Evans, P.C., Serbanovic-Canic, J. (2023) EVA1A (Eva-1 Homolog A) Promotes Endothelial Apoptosis and Inflammatory Activation Under Disturbed Flow Via Regulation of Autophagy. Arteriosclerosis, Thrombosis, and Vascular Biology. 43(4):547-561
- England, S.J., Rusnock, A.K., Mujcic, A., Kowalchuk, A., de Jager, S., Hilinski, W.C., Juárez-Morales, J.L., Smith, M.E., Grieb, G., Banerjee, S., Lewis, K.E. (2023) Molecular analyses of zebrafish V0v spinal interneurons and identification of transcriptional regulators downstream of Evx1 and Evx2 in these cells. Neural Development. 18:88
- Leesch, F., Lorenzo-Orts, L., Pribitzer, C., Grishkovskaya, I., Roehsner, J., Chugunova, A., Matzinger, M., Roitinger, E., Belačić, K., Kandolf, S., Lin, T.Y., Mechtler, K., Meinhart, A., Haselbach, D., Pauli, A. (2023) A molecular network of conserved factors keeps ribosomes dormant in the egg. Nature. 613(7945):712-720
- Lin, J., Zhan, G., Liu, J., Maimaitiyiming, Y., Deng, Z., Li, B., Su, K., Chen, J., Sun, S., Zheng, W., Yu, X., He, F., Cheng, X., Wang, L., Shen, B., Yao, Z., Yang, X., Zhang, J., He, W., Wu, H., Naranmandura, H., Chang, K.J., Min, J., Ma, J., Björklund, M., Xu, P.F., Wang, F., Hsu, C.H. (2023) YTHDF2-mediated regulations bifurcate BHPF-induced programmed cell deaths. National science review. 10:nwad227nwad227
- Lorenzo-Orts, L., Strobl, M., Steinmetz, B., Leesch, F., Pribitzer, C., Roehsner, J., Schutzbier, M., Dürnberger, G., Pauli, A. (2023) eIF4E1b is a non-canonical eIF4E protecting maternal dormant mRNAs. EMBO reports. 25(1):404-427
- Valiente-Gabioud, A.A., Garteizgogeascoa Suñer, I., Idziak, A., Fabritius, A., Basquin, J., Angibaud, J., Nägerl, U.V., Singh, S.P., Griesbeck, O. (2023) Fluorescent sensors for imaging of interstitial calcium. Nature communications. 14:62206220
- Yang, Z., Guo, D., Zhao, J., Li, J., Zhang, R., Zhang, Y., Xu, C., Ke, T., Wang, Q.K. (2023) Aggf1 Specifies Hemangioblasts at the Top of Regulatory Hierarchy via Npas4l and mTOR-S6K-Emp2-ERK Signaling. Arteriosclerosis, Thrombosis, and Vascular Biology. 43(12):2348-2368
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