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Mybpc3 Gene Detail
Summary
  • Symbol
    Mybpc3
  • Name
    myosin binding protein C, cardiac
  • Synonyms
    cardiac C-protein
  • Feature Type
    protein coding gene
  • IDs
    MGI:102844
    NCBI Gene: 17868
Location & Maps
more
  • Sequence Map
    Chr2:91118144-91136516 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      18373 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MYBPC3, myosin binding protein C, cardiac
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MYBPC3, myosin binding protein C, cardiac
    Orthology source: HomoloGene
  • Synonyms
    CMD1MM, CMH4, FHC, LVNC10, MYBP-C
  • Links
    NCBI Gene ID: 4607
    neXtProt AC: NX_Q14896

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

  • HomoloGene
    Vertebrate Homology Class 215
    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
Human Diseases
more
  • Diseases
    1 with Mybpc3 mouse models; 2 with human MYBPC3 associations

Human Disease Mouse Models
       Cardiomyopathy, Familial Hypertrophic, 4; CMH4   OMIM: 115197 View 4 models
       Left Ventricular Noncompaction 10; LVNC10   OMIM: 615396
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 7 alleles in 7 genetic backgrounds
    7 phenotypes from multigenic genotypes
    52 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    13
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    10
  • Genomic Mutations
    4 involving Mybpc3
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    232 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 49
    cDNA 48
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-19753
References
more
  • Summaries
    All 90
    Developmental Gene Expression 12
    Diseases 3
    Gene Ontology 15
    Phenotypes 52
  • 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:225738 Mamidi R, et al., Molecular effects of the myosin activator omecamtiv mecarbil on contractile properties of skinned myocardium lacking cardiac myosin binding protein-C. J Mol Cell Cardiol. 2015 Aug;85:262-72

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory