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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:90948489-90966861 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • 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 Chr2:90948459-90966861 (+)
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 C3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MYBPC3, myosin binding protein C3
  • Synonyms
    CMD1MM, CMH4, cMyBP-C, FHC, LVNC10, MYBP-C
  • Links
    NCBI Gene ID: 4607
    neXtProt AC: NX_Q14896
    UniProt: Q14896

  • Chr Location
    11p11.2; chr11:47331406-47352702 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mybpc3 mouse models; 4 with human MYBPC3 associations

Human Disease Mouse Models
      
IDs
 View 8 models
      
IDs
IDs
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 7 alleles in 8 genetic backgrounds
    19 phenotypes from multigenic genotypes
    136 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
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
neoplasm
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
    38
  • GO References
    17
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    837
  • Tissues
    114
  • cDNA Data
    49
  • Literature Summary
    17
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 194
      Developmental Gene Expression 17
      Diseases 8
      Gene Ontology 17
      Phenotypes 136
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:342762 Chou C, et al., A novel alphaB-crystallin R123W variant drives hypertrophic cardiomyopathy by promoting maladaptive calcium-dependent signal transduction. Front Cardiovasc Med. 2023;10:1223244
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory