Gene
mybpc3
- ID
- ZDB-GENE-070112-2362
- Name
- myosin binding protein C3
- Symbol
- mybpc3 Nomenclature History
- Previous Names
-
- hm:zehn0716
- im:6900815
- zgc:152717
- zgc:158442
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable myosin heavy chain binding activity. Acts upstream of or within cardiac chamber morphogenesis; heart contraction; and regulation of heart rate. Predicted to be active in M band. Is expressed in anterior macula; heart rudiment; musculature system; pericardial region; and trunk. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1MM; familial hypertrophic cardiomyopathy; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 4. Orthologous to human MYBPC3 (myosin binding protein C3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 11 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6900815 (8 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| dsme1 | Allele with one point mutation | Unknown | Frameshift, Premature Stop | TALEN | |
| la016075Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa7070 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa34102 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa40932 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 5 of 5
Show
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-mybpc3 | N/A | (3) |
| MO2-mybpc3 | N/A | Da'as et al., 2020 |
| MO3-mybpc3 | N/A | Da'as et al., 2020 |
| TALEN1-mybpc3 | (3) | |
| TALEN2-mybpc3 | Da'as et al., 2022 |
1 - 5 of 5
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| dilated cardiomyopathy 1MM | Alliance | Cardiomyopathy, dilated, 1MM | 615396 |
| dilated cardiomyopathy 1MM | Alliance | Left ventricular noncompaction 10 | 615396 |
| hypertrophic cardiomyopathy 4 | Alliance | Cardiomyopathy, hypertrophic, 4 | 115197 |
1 - 3 of 3
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | MyBP-C, tri-helix bundle domain | Striated Muscle Structural and Regulatory Protein |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9QH12 | InterPro | 1294 | ||||||||||
| UniProtKB:A0A8M1N978 | InterPro | 1265 | ||||||||||
| UniProtKB:A0A8M9Q7W1 | InterPro | 1212 | ||||||||||
| UniProtKB:A0A8M9Q1L9 | InterPro | 1302 | ||||||||||
| UniProtKB:A0A8M3B451 | InterPro | 1189 |
1 - 5 of 11 Show all
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mybpc3-201
(1)
|
Ensembl | 3,194 nt | ||
| mRNA |
mybpc3-202
(1)
|
Ensembl | 3,801 nt | ||
| mRNA |
mybpc3-203
(1)
|
Ensembl | 1,064 nt | ||
| mRNA |
mybpc3-204
(1)
|
Ensembl | 938 nt | ||
| mRNA |
mybpc3-205
(1)
|
Ensembl | 760 nt |
1 - 5 of 7 Show all
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-251J8 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:6900815 | Thisse et al., 2004 | |
| Encodes | EST | zehn0716 | ||
| Encodes | cDNA | MGC:152717 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:158442 | ZFIN Curated Data |
1 - 5 of 5
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001044349 (1) | 4142 nt | ||
| Genomic | GenBank:AL935207 (1) | 146351 nt | ||
| Polypeptide | UniProtKB:A0A8M9Q1L9 (1) | 1302 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
- Hu, T., Liu, L., Wang, H., Yang, M., Xu, B., Xie, H., Lin, Z., Jin, X., Wang, P., Liu, Y., Sun, H., Liu, S. (2024) RCAN family member 3 deficiency contributes to noncompaction of the ventricular myocardium. Journal of genetics and genomics = Yi chuan xue bao. 51(5):543-553
- Jacob, S., Abuarja, T., Shaath, R., Hasan, W., Balayya, S., Abdelrahman, D., Almana, K., Afreen, H., Hani, A., Nomikos, M., Fakhro, K., Elrayess, M.A., Da'as, S.I. (2024) Deciphering metabolomics and lipidomics landscape in zebrafish hypertrophic cardiomyopathy model. Scientific Reports. 14:2190221902
- Akerberg, A.A., Trembley, M., Butty, V., Schwertner, A., Zhao, L., Beerens, M., Liu, X., Mahamdeh, M., Yuan, S., Boyer, L., MacRae, C., Nguyen, C., Pu, W.T., Burns, C.E., Burns, C.G. (2022) RBPMS2 Is a Myocardial-Enriched Splicing Regulator Required for Cardiac Function. Circulation research. 131(12):980-1000
- Da'as, S.I., Hasan, W., Salem, R., Younes, N., Abdelrahman, D., Mohamed, I.A., Aldaalis, A., Temanni, R., Mathew, L.S., Lorenz, S., Yacoub, M., Nomikos, M., Nasrallah, G.K., Fakhro, K.A. (2022) Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model. International Journal of Molecular Sciences. 23(16)
- Lai, H.H., Yeh, K.Y., Hsu, H.M., Her, G.M. (2022) Deficiency of Adipose Triglyceride Lipase Induces Metabolic Syndrome and Cardiomyopathy in Zebrafish. International Journal of Molecular Sciences. 24(1):
- Pohl, J., Golovko, O., Carlsson, G., Örn, S., Schmitz, M., Ahi, E.P. (2021) Gene co-expression network analysis reveals mechanisms underlying ozone-induced carbamazepine toxicity in zebrafish (Danio rerio) embryos. Chemosphere. 276:130282
- Da'as, S.I., Yalcin, H.C., Nasrallah, G.K., Mohamed, I.A., Nomikos, M., Yacoub, M.H., Fakhro, K.A. (2020) Functional characterization of human myosin-binding protein C3 variants associated with hypertrophic cardiomyopathy reveals exon-specific cardiac phenotypes in zebrafish model. Journal of Cellular Physiology. 235(11):7870-7888
- 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
- Liu, L., Fei, F., Zhang, R., Wu, F., Yang, Q., Wang, F., Sun, S., Zhao, H., Li, Q., Wang, L., Wang, Y., Gui, Y., Wang, X. (2019) Combinatorial genetic replenishments in myocardial and outflow tract tissues restore heart function in tnnt2 mutant zebrafish. Biology Open. 8(12):
1 - 10 of 29
Show