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. Human ortholog(s) of this gene implicated in familial hypertrophic cardiomyopathy; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 4. Is expressed in anterior macula; heart rudiment; musculature system; pericardial region; and trunk. Orthologous to human MYBPC3 (myosin binding protein C3).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 14 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6900815 (8 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
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 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR003598 | Immunoglobulin subtype 2 |
Domain | IPR003599 | Immunoglobulin domain subtype |
Domain | IPR003961 | Fibronectin type III |
Domain | IPR007110 | Immunoglobulin-like domain |
Domain | IPR013098 | Immunoglobulin I-set |
Domain | IPR040849 | MyBP-C, tri-helix bundle domain |
Family | IPR050964 | Striated Muscle Structural and Regulatory Protein |
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 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
|
1294 | ||||||||||
UniProtKB:A0A8M1N978
|
1265 | ||||||||||
UniProtKB:A0A8M9Q7W1
|
1212 | ||||||||||
UniProtKB:A0A8M9Q1L9
|
1302 | ||||||||||
UniProtKB:A0A8M3B451
|
1189 | ||||||||||
UniProtKB:Q3B7F2
|
371 | ||||||||||
UniProtKB:A0A8M9Q7V7
|
1301 | ||||||||||
UniProtKB:A0A8M3AU87
|
1279 | ||||||||||
UniProtKB:A0A1L1QZU5
|
1287 | ||||||||||
UniProtKB:A0A8M9QC07
|
1280 |
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 | ||
mRNA |
mybpc3-206
(1)
|
Ensembl | 877 nt | ||
mRNA |
mybpc3-207
(1)
|
Ensembl | 4,285 nt |
Interactions and Pathways
No data available
Plasmids
No data available