Mybpc3
Gene Detail

Symbol Name ID

Mybpc3 myosin binding protein C, cardiac MGI:102844

Synonyms

cardiac C-protein

Feature Type

protein coding gene

Genetic Map

Chromosome 2

50.44 cM, cytoband E1
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr2:91118144-91136516 bp, + strand From VEGA annotation of GRCm38   18373 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:215  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Mybpc3

Human homologs

Human Homolog		MYBPC3, myosin binding protein C, cardiac
NCBI Gene ID		4607
neXtProt AC		NX_Q14896
Human Synonyms		CMH4, FHC, MYBP-C
Human Chr (Location)		11p11.2; chr11:47352957-47374253 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human MYBPC3

Alleles and phenotypes

All alleles(8) : Targeted(7) Gene trapped(1)
 

Homozygotes for null or truncated mutations exhibit cardiac abnormalities such as cardiac hypertrophy, dilated cardiomyopathy, abnormal cardiac muscle contractility and relaxation, disorganized myocardium, and cardiac fibrosis.

 
Human Diseases Modeled Using Mouse Mybpc3 (1)    Alleles Annotated to Human Diseases(4)   

Gene Ontology (GO) classifications

All GO classifications: (30 annotations)

Process	cardiac muscle contraction, cell adhesion, ...
Component	A band, cytoskeleton, ...
Function	actin binding, metal ion binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (11 records)
Data Summary: Results (131)    Tissues (111)    Images (7)
Theiler Stages: 8, 9, 10, 11, 12, 13, 14, 16, 18, 20, 21, 22, 24, 25, 26, 28

Assay Type	Results
RNA in situ	93
Northern blot	25
RT-PCR	13

cDNA source data(48)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(49) cDNA(48) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000014369 (Evidence)
Ensembl Gene Model	ENSMUSG00000002100 (Evidence)
Entrez Gene	17868 (Evidence)
UniGene	10728
DFCI	TC1580676, TC1678966
DoTS	DT.101370564, DT.532295, DT.94302676
NIA Mouse Gene Index	U002119
PDB	4EDQ
Consensus CDS Project	CCDS50631.1
International Mouse Knockout Project Status	Mybpc3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000014369	VEGA Gene Model | MGI Sequence Detail	18373	C57BL/6J
transcript	OTTMUST00000033992	VEGA | MGI Sequence Detail	4163	Not Applicable
polypeptide	OTTMUSP00000015227	VEGA | MGI Sequence Detail	1278	Not Applicable

All sequences(37) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(135 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003961	Fibronectin, type III
InterPro	IPR013098	Immunoglobulin I-set
InterPro	IPR007110	Immunoglobulin-like domain
InterPro	IPR013783	Immunoglobulin-like fold
InterPro	IPR003599	Immunoglobulin subtype
InterPro	IPR003598	Immunoglobulin subtype 2
Protein Ontology	PR:000010805	myosin-binding protein C, cardiac-type

References

(Earliest) J:20457 Kasahara H, et al., Autoimmune myocarditis induced in mice by cardiac C-protein. Cloning of complementary DNA encoding murine cardiac C-protein and partial characterization of the antigenic peptides. J Clin Invest. 1994 Sep;94(3):1026-36
(Latest) J:189140 Colson BA, et al., Myosin binding protein-C phosphorylation is the principal mediator of protein kinase A effects on thick filament structure in myocardium. J Mol Cell Cardiol. 2012 Nov;53(5):609-16
All references(81)

Other accession IDs

MGD-MRK-19753