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
Expression
All Expression Data
12 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
9 figures from 3 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
Cardiomyopathy, dilated, 1MM 615396
Cardiomyopathy, hypertrophic, 4 115197
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: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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations