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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: MYBPC3
Gene Tree: Mybpc3

Human
homologs
MYBPC3, myosin binding protein C, cardiac
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4607
neXtProt AC: NX_Q14896

Human Synonyms: CMD1MM, CMH4, FHC, LVNC10, MYBP-C

Human Chr (Location): 11p11.2; chr11:47331406-47352702 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human MYBPC3

Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Gene trapped(1) Targeted(10)
Genomic Mutations involving Mybpc3 (2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Mybpc3 (1)    Mutations Annotated to Human Diseases (4)   
Interactions
Mybpc3 interacts with 362 markers (Mir1a-1, Mir1a-2, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (32 annotations)
Process cardiac muscle contraction, cell adhesion, ...
Component A band, cytoskeleton, ...
Function actin binding, identical protein binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (12 records)
Data Summary: Results (131)    Tissues (112)    Images (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 93
Northern blot 25
RT-PCR 13
cDNA source data(48)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mybpc3 ; ZFIN mybpc3    NEW 
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 Phenotyping Consortium Status Mybpc3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014369 VEGA Gene Model | MGI Sequence Detail 18373 C57BL/6J ±  kb
transcript OTTMUST00000033992 VEGA | MGI Sequence Detail 4163 Not Applicable 
polypeptide OTTMUSP00000015227 VEGA | MGI Sequence Detail 1278 Not Applicable 

For the selected sequences
All sequences(41) RefSeq(6) UniProt(5)
Polymorphisms
SNPs within 2kb(235 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:209649 Barefield D, et al., Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy. Am J Physiol Heart Circ Physiol. 2014 Mar;306(6):H807-15
All references(87)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-19753

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory