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
Expression
All Expression Data
10 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mybpc3 Human Ortholog
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
Associated With mybpc3 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations