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 have myosin heavy chain binding activity. Involved in cardiac chamber morphogenesis and regulation of heart rate. Is expressed in anterior macula; heart rudiment; musculature system; pericardial region; and trunk. Human ortholog(s) of this gene implicated in familial hypertrophic cardiomyopathy; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 4. Orthologous to human MYBPC3 (myosin binding protein C3).
- Genome Resources
- Note
- None
- All Expression Data
- 10 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
-
- GEO (1) Expression Atlas (1)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hypertrophic cardiomyopathy 4 | Alliance | Cardiomyopathy, hypertrophic, 4 | 115197 |
| Cardiomyopathy, dilated, 1MM | 615396 | ||
| Left ventricular noncompaction 10 | 615396 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin subtype |
| Domain | IPR003961 | Fibronectin type III |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR040849 | MyBP-C, tri-helix bundle domain |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype | Immunoglobulin subtype 2 | MyBP-C, tri-helix bundle domain |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E7EZ79
|
1266 | |||||||||
|
UniProtKB:A0A1D5NSX5
|
161 | |||||||||
|
UniProtKB:A0A1L1QZU5
|
1287 | |||||||||
|
UniProtKB:F1Q615
|
313 | |||||||||
|
UniProtKB:Q3B7F2
|
371 | |||||||||
|
UniProtKB:E9QCH0
|
294 | |||||||||
|
UniProtKB:E9QBD5
|
238 | |||||||||
|
UniProtKB:F1QVS1
|
522 | |||||||||
|
UniProtKB:A1L1W0
|
523 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
mybpc3-203
(1)
|
1064 nt | |
| mRNA |
mybpc3-204
(1)
|
938 nt | |
| mRNA |
mybpc3-205
(1)
|
760 nt | |
| mRNA |
mybpc3-206
(1)
|
877 nt | |
| mRNA |
mybpc3-207
(1)
|
4285 nt |
Interactions and Pathways
No data available
Plasmids
No data available