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Aliases for MYBPC2 Gene

Aliases for MYBPC2 Gene

  • Myosin Binding Protein C, Fast Type 2 3 5
  • Fast-Type Muscle Myosin-Binding-Protein C 2 3
  • C-Protein, Skeletal Muscle Fast Isoform 3 4
  • Fast MyBP-C 3 4
  • MYBPCF 3 4
  • Myosin-Binding Protein C, Fast-Type 2
  • Testicular Tissue Protein Li 126 3
  • MYBPC 3

External Ids for MYBPC2 Gene

Previous GeneCards Identifiers for MYBPC2 Gene

  • GC19P051565
  • GC19P051297
  • GC19P055612
  • GC19P055628
  • GC19P050936
  • GC19P047274

Summaries for MYBPC2 Gene

Entrez Gene Summary for MYBPC2 Gene

  • This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]

GeneCards Summary for MYBPC2 Gene

MYBPC2 (Myosin Binding Protein C, Fast Type) is a Protein Coding gene. Diseases associated with MYBPC2 include hypertrophic cardiomyopathy and cardiomyopathy. Among its related pathways are Cardiac conduction and Striated Muscle Contraction. GO annotations related to this gene include actin binding and structural constituent of muscle. An important paralog of this gene is HMCN1.

UniProtKB/Swiss-Prot for MYBPC2 Gene

  • Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYBPC2 Gene

Genomics for MYBPC2 Gene

Regulatory Elements for MYBPC2 Gene

Promoters for MYBPC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MYBPC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYBPC2 Gene

Chromosome:
19
Start:
50,432,903 bp from pter
End:
50,466,326 bp from pter
Size:
33,424 bases
Orientation:
Plus strand

Genomic View for MYBPC2 Gene

Genes around MYBPC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYBPC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYBPC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYBPC2 Gene

Proteins for MYBPC2 Gene

  • Protein details for MYBPC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14324-MYPC2_HUMAN
    Recommended name:
    Myosin-binding protein C, fast-type
    Protein Accession:
    Q14324
    Secondary Accessions:
    • A1L4G9

    Protein attributes for MYBPC2 Gene

    Size:
    1141 amino acids
    Molecular mass:
    128072 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MYBPC2 Gene

neXtProt entry for MYBPC2 Gene

Proteomics data for MYBPC2 Gene at MOPED

Post-translational modifications for MYBPC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYBPC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for MYBPC2

No data available for DME Specific Peptides for MYBPC2 Gene

Domains & Families for MYBPC2 Gene

Suggested Antigen Peptide Sequences for MYBPC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14324

UniProtKB/Swiss-Prot:

MYPC2_HUMAN :
  • Contains 3 fibronectin type-III domains.
  • Belongs to the immunoglobulin superfamily. MyBP family.
Domain:
  • Contains 3 fibronectin type-III domains.
  • Contains 7 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily. MyBP family.
genes like me logo Genes that share domains with MYBPC2: view

Function for MYBPC2 Gene

Molecular function for MYBPC2 Gene

GENATLAS Biochemistry:
myosin,and titin binding protein C,skeletal muscle,fast type,expressed in the A band of sarcomeres
UniProtKB/Swiss-Prot Function:
Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.

Gene Ontology (GO) - Molecular Function for MYBPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with MYBPC2: view
genes like me logo Genes that share phenotypes with MYBPC2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MYBPC2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MYBPC2 Gene

Localization for MYBPC2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYBPC2 Gene COMPARTMENTS Subcellular localization image for MYBPC2 gene
Compartment Confidence
cytosol 5
cytoskeleton 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MYBPC2 Gene

Pathways & Interactions for MYBPC2 Gene

genes like me logo Genes that share pathways with MYBPC2: view

Pathways by source for MYBPC2 Gene

1 BioSystems pathway for MYBPC2 Gene
2 Reactome pathways for MYBPC2 Gene

Gene Ontology (GO) - Biological Process for MYBPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with MYBPC2: view

No data available for SIGNOR curated interactions for MYBPC2 Gene

Drugs & Compounds for MYBPC2 Gene

No Compound Related Data Available

Transcripts for MYBPC2 Gene

mRNA/cDNA for MYBPC2 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(59) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYBPC2 Gene

Myosin binding protein C, fast type:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYBPC2 Gene

No ASD Table

Relevant External Links for MYBPC2 Gene

GeneLoc Exon Structure for
MYBPC2
ECgene alternative splicing isoforms for
MYBPC2

Expression for MYBPC2 Gene

mRNA expression in normal human tissues for MYBPC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYBPC2 Gene

This gene is overexpressed in Muscle - Skeletal (x51.7).

Protein differential expression in normal tissues from HIPED for MYBPC2 Gene

This gene is overexpressed in Tonsil (66.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYBPC2 Gene



SOURCE GeneReport for Unigene cluster for MYBPC2 Gene Hs.85937

genes like me logo Genes that share expression patterns with MYBPC2: view

Protein tissue co-expression partners for MYBPC2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MYBPC2 Gene

Orthologs for MYBPC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYBPC2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia MYBPC2 35
  • 87.89 (n)
  • 90.96 (a)
MYBPC2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mybpc2 35
  • 85.56 (n)
  • 92.34 (a)
Mybpc2 16
Mybpc2 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mybpc2 35
  • 85.22 (n)
  • 92.52 (a)
cow
(Bos Taurus)
Mammalia MYBPC2 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 15 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MYBPC2 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYBPC2 35
  • 71.36 (n)
  • 71.75 (a)
lizard
(Anolis carolinensis)
Reptilia MYBPC2 36
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mybpc2a 35
  • 63.82 (n)
  • 63.25 (a)
mybpc2a 36
  • 62 (a)
OneToMany
mybpc2b 36
  • 62 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for MYBPC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYBPC2 Gene

ENSEMBL:
Gene Tree for MYBPC2 (if available)
TreeFam:
Gene Tree for MYBPC2 (if available)

Paralogs for MYBPC2 Gene

Paralogs for MYBPC2 Gene

(11) SIMAP similar genes for MYBPC2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MYBPC2: view

Variants for MYBPC2 Gene

Sequence variations from dbSNP and Humsavar for MYBPC2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs25669 - 50,435,820(+) CCACC(A/G)GCGTT reference, missense
rs25665 - 50,454,140(+) ACCCC(A/G)TCGGC reference, missense
rs25667 - 50,464,383(+) AATCC(A/C/G)TGAAG reference, missense
rs35951152 - 50,442,255(+) TCAGC(A/G)ACCCA reference, missense
rs8104931 - 50,450,896(+) CTGAC(A/G)GCTAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MYBPC2 Gene

Variant ID Type Subtype PubMed ID
dgv3976n71 CNV Loss 21882294
nsv912281 CNV Loss 21882294
nsv912282 CNV Loss 21882294
esv2661463 CNV Deletion 23128226
esv2718733 CNV Deletion 23290073
esv2718734 CNV Deletion 23290073
esv2718735 CNV Deletion 23290073
esv1338683 CNV Deletion 17803354
nsv509750 CNV Insertion 20534489
nsv912283 CNV Gain 21882294

Variation tolerance for MYBPC2 Gene

Residual Variation Intolerance Score: 98.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.23; 90.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYBPC2 Gene

HapMap Linkage Disequilibrium report
MYBPC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYBPC2 Gene

Disorders for MYBPC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MYBPC2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
cardiomyopathy
  • cardiomyopathies
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MYBPC2

Genetic Association Database (GAD)
MYBPC2
Human Genome Epidemiology (HuGE) Navigator
MYBPC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYBPC2
genes like me logo Genes that share disorders with MYBPC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYBPC2 Gene

Publications for MYBPC2 Gene

  1. Complete sequence of human fast-type and slow-type muscle myosin- binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment. (PMID: 8375400) Weber F.E. … Fischman D.A. (Eur. J. Biochem. 1993) 2 3 4 23 67
  2. The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells. (PMID: 12154082) Welikson R.E. … Fischman D.A. (J. Cell. Sci. 2002) 3 23
  3. Isoform-specific interaction of the myosin-binding proteins (MyBPs) with skeletal and cardiac myosin is a property of the C-terminal immunoglobulin domain. (PMID: 9252413) Alyonycheva T.N. … Fischman D.A. (J. Biol. Chem. 1997) 3 23
  4. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. (PMID: 23414517) Blandin G. … Richard I. (Skelet Muscle 2013) 3
  5. Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene. (PMID: 20740642) Meurs K.M. … Kuan M. (Environ. Mol. Mutagen. 2011) 3

Products for MYBPC2 Gene

Sources for MYBPC2 Gene

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