About   Help   FAQ
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
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:91118144-91136516 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 50.44 cM, cytoband E1
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    232 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102844
protein coding gene Chr2:91118114-91136516 (.)
129S1/SvImJ MGP_129S1SvImJ_G0026142
protein coding gene Chr2:92424573-92442946 (+)
A/J MGP_AJ_G0026103
protein coding gene Chr2:88728703-88747278 (+)
AKR/J MGP_AKRJ_G0026084
protein coding gene Chr2:91181937-91200308 (+)
BALB/cJ MGP_BALBcJ_G0026112
protein coding gene Chr2:88906225-88924788 (+)
C3H/HeJ MGP_C3HHeJ_G0025863
protein coding gene Chr2:91459308-91477681 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026563
protein coding gene Chr2:95689011-95707370 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023954
protein coding gene Chr2:85242748-85261262 (+)
CAST/EiJ MGP_CASTEiJ_G0025328
protein coding gene Chr2:91983580-92001963 (+)
CBA/J MGP_CBAJ_G0025841
protein coding gene Chr2:98935463-98953836 (+)
DBA/2J MGP_DBA2J_G0025977
protein coding gene Chr2:88327689-88346260 (+)
FVB/NJ MGP_FVBNJ_G0025940
protein coding gene Chr2:87432563-87450936 (+)
LP/J MGP_LPJ_G0026081
protein coding gene Chr2:92633702-92652273 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025966
protein coding gene Chr2:101973900-101992463 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026617
protein coding gene Chr2:91243393-91261968 (+)
PWK/PhJ MGP_PWKPhJ_G0025063
protein coding gene Chr2:88056899-88075534 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024864
protein coding gene Chr2:90819269-90837613 (+)
WSB/EiJ MGP_WSBEiJ_G0025395
protein coding gene Chr2:91840385-91859856 (+)



Homology
more
  • Human Ortholog
    MYBPC3, myosin binding protein C, cardiac
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MYBPC3, myosin binding protein C, cardiac
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMD1MM, CMH4, FHC, LVNC10, MYBP-C
  • Links
    NCBI Gene ID: 4607
    neXtProt AC: NX_Q14896
    UniProt: Q14896

  • Chr Location
    11p11.2; chr11:47331406-47352702 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 215
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: MYBPC3
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Mybpc3 mouse models; 1 with human MYBPC3 associations

Human Disease Mouse Models
      
IDs
View 9 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    41 phenotypes from 9 alleles in 8 genetic backgrounds
    18 phenotypes from multigenic genotypes
    69 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000002100 Ensembl Gene Model | MGI Sequence Detail 18373 C57BL/6J ±  kb
    transcript ENSMUST00000169776 Ensembl | MGI Sequence Detail 4163 Not Applicable  
    polypeptide ENSMUSP00000127070 Ensembl | MGI Sequence Detail 1278 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 51
      cDNA 49
      Primer pair 1
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-19753
    References
    more
    • Summaries
      All 122
      Developmental Gene Expression 13
      Diseases 9
      Gene Ontology 18
      Phenotypes 69
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:262067 Matsuyama S, et al., Interaction between cardiac myosin-binding protein C and formin Fhod3. Proc Natl Acad Sci U S A. 2018 May 8;115(19):E4386-E4395

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory