Gene
myl2b
- ID
- ZDB-GENE-060331-137
- Name
- myosin, light chain 2b, regulatory, cardiac, slow
- Symbol
- myl2b Nomenclature History
- Previous Names
-
- mlc2b (1)
- myl2
- zgc:136848
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Acts upstream of or within heart morphogenesis. Predicted to be part of myosin complex. Predicted to be active in myofibril. Is expressed in several structures, including brain; eye; gill; heart; and musculature system. Human ortholog(s) of this gene implicated in familial hypertrophic cardiomyopathy; hypertrophic cardiomyopathy 10; and infantile-onset myofibrillar myopathy 12 with cardiomyopathy. Orthologous to human MYL2 (myosin light chain 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
No data available
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-myl2b | N/A | Seguchi et al., 2007 |
| MO2-myl2b | N/A | Zhang et al., 2022 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hypertrophic cardiomyopathy 10 | Alliance | Cardiomyopathy, hypertrophic, 10 | 608758 |
| infantile-onset myofibrillar myopathy 12 with cardiomyopathy | Alliance | Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | 619424 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | Myosin regulatory light chain |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9Q9U1 | InterPro | 125 | ||||
| UniProtKB:Q24JV6 | InterPro | 168 | ||||
| UniProtKB:A0AB32TTL4 | InterPro | 149 |
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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 | CH211-166A6 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:136848 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001040045 (1) | 1838 nt | ||
| Genomic | GenBank:BX004972 (1) | 151374 nt | ||
| Polypeptide | UniProtKB:Q24JV6 (1) | 168 aa |
- Angom, R.S., Joshi, A., Patowary, A., Sivadas, A., Ramasamy, S., K V, S., Kaushik, K., Sabharwal, A., Lalwani, M.K., K, S., Singh, N., Scaria, V., Sivasubbu, S. (2024) Forward genetic screen using a gene-breaking trap approach identifies a novel role of grin2bb-associated RNA transcript (grin2bbART) in zebrafish heart function. Frontiers in cell and developmental biology. 12:13392921339292
- Zhang, Y., Peng, R., Wang, H. (2022) Identification and genetic analysis of rare variants in myosin family genes in 412 Han Chinese congenital heart disease patients. Molecular genetics & genomic medicine. 10(10):e2041
- Luo, X., Chen, L., Zhang, Y., Liu, J., Xie, H. (2020) Developmental and cardiac toxicities of propofol in zebrafish larvae. Comparative biochemistry and physiology. Toxicology & pharmacology : CBP. 237:108838
- Feng, S., Wang, S., Wang, Y., Yang, Q., Wang, D., Li, H. (2018) Identification and expression of carbonic anhydrase 2, myosin regulatory light chain 2 and selenium-binding protein 1 in zebrafish Danio rerio: Implication for age-related biomarkers. Gene expression patterns : GEP. 29:47-58
- Garcia de la Serrana, D., Wreggelsworth, K., Johnston, I.A. (2018) Duplication of a Single myhz1.1 Gene Facilitated the Ability of Goldfish (Carassius auratus) to Alter Fast Muscle Contractile Properties With Seasonal Temperature Change. Frontiers in Physiology. 9:1724
- Gomes, R.S., Skroblin, P., Munster, A.B., Tomlins, H., Langley, S.R., Zampetaki, A., Yin, X., Wardle, F., Mayr, M. (2016) "Young at heart": Regenerative potential linked to immature cardiac phenotypes. Journal of Molecular and Cellular Cardiology. 92:105-8
- Jacob, A.E., Turner, C.E., Amack, J.D. (2016) Evolution and Expression of Paxillin Genes in Teleost Fish. PLoS One. 11:e0165266
- Chen, Z., Huang, W., Dahme, T., Rottbauer, W., Ackerman, M.J., and Xu, X. (2008) Depletion of Zebrafish Essential and Regulatory Myosin Light Chains Reduces Cardiac Function Through Distinct Mechanisms. Cardiovascular research. 79(1):97-108
- Seguchi, O., Takashima, S., Yamazaki, S., Asakura, M., Asano, Y., Shintani, Y., Wakeno, M., Minamino, T., Kondo, H., Furukawa, H., Nakamaru, K., Naito, A., Takahashi, T., Ohtsuka, T., Kawakami, K., Isomura, T., Kitamura, S., Tomoike, H., Mochizuki, N., and Kitakaze, M. (2007) A cardiac myosin light chain kinase regulates sarcomere assembly in the vertebrate heart. J. Clin. Invest.. 117(10):2812-2824
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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