Free for academic non-profit institutions. Other users need a Commercial license

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
  • Myosin-Binding Protein C, Fast-Type 2 3
  • Fast MyBP-C 3 4
  • MYBPCF 3 4
  • 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 Intrinsic Cardiomyopathy and Cardiomyopathy, Hypertrophic, 4. 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 MYBPC3.

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 CIViC summary , 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

Enhancers for MYBPC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G050488 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.1 +57.6 57610 4.6 HDAC1 PKNOX1 CBX3 KLF17 NFXL1 ZNF48 YY1 EGR1 ZNF366 HSF1 SNORD35A RPS11 SNORD35B POLD1 PTOV1-AS2 PRR12 PNKP NUP62 SIGLEC17P ASPDH
GH19G050496 1.9 FANTOM5 Ensembl ENCODE dbSUPER 2 +66.4 66445 6.1 HDGF ATF1 PKNOX1 CREB3L1 GLI4 ZNF48 TCF12 GLIS2 GATA2 KLF13 PRR12 CTU1 JOSD2 ASPDH MYH14 MYBPC2 LOC100506114
GH19G050459 1.2 Ensembl ENCODE 0.3 +27.9 27923 2.3 HDGF PKNOX1 ATF1 FOXA2 ZFP64 WRNIP1 ARID4B ZNF121 ZNF143 KLF13 ASPDH ETFB EMC10 MYBPC2
GH19G050465 1.1 Ensembl ENCODE 0.3 +33.6 33589 2.4 SIN3A RAD21 ZNF48 ZNF366 EGR1 ZNF143 FOS CREM EGR2 ZBTB11 ASPDH FAM71E1 EMC10 MYBPC2
GH19G050466 0.6 ENCODE 0.3 +32.2 32176 0.2 CTCF ZMYM3 HNF4A KDM1A FOS ZNF48 EMC10 MYBPC2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYBPC2 on UCSC Golden Path with GeneCards custom track

Promoters for MYBPC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000111062 -903 801 HDGF ATF1 AGO1 SIN3A BRCA1 GLIS2 ZNF207 ZNF143 FOS KLF13

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

Post-translational modifications for MYBPC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYBPC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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 :
  • Belongs to the immunoglobulin superfamily. MyBP family.
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:0005515 protein binding IPI 23414517
GO:0008307 structural constituent of muscle TAS 8375400
GO:0051015 actin filament binding IBA --
GO:0051371 muscle alpha-actinin binding IBA --
GO:0097493 structural molecule activity conferring elasticity IBA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYBPC2 gene
Compartment Confidence
cytosol 5
cytoskeleton 4

Gene Ontology (GO) - Cellular Components for MYBPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex IBA --
GO:0030018 Z disc IBA --
GO:0031430 M band IBA --
GO:0032982 myosin filament IEA --
genes like me logo Genes that share ontologies with MYBPC2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:0006936 muscle contraction IEA --
GO:0006941 striated muscle contraction IBA --
GO:0007015 actin filament organization IBA --
GO:0007155 cell adhesion IEA --
GO:0030049 muscle filament sliding TAS --
genes like me logo Genes that share ontologies with MYBPC2: view

No data available for SIGNOR curated interactions for MYBPC2 Gene

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for MYBPC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MYBPC2 Gene:

MYBPC2

SOURCE GeneReport for Unigene cluster for MYBPC2 Gene:

Hs.85937

Evidence on tissue expression from TISSUES for MYBPC2 Gene

  • Muscle(4.8)
  • Heart(2.5)
genes like me logo Genes that share expression patterns with MYBPC2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
cow
(Bos Taurus)
Mammalia MYBPC2 35
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYBPC2 34 35
  • 87.89 (n)
mouse
(Mus musculus)
Mammalia Mybpc2 16 35 34
  • 85.56 (n)
rat
(Rattus norvegicus)
Mammalia Mybpc2 34
  • 85.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYBPC2 35
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 15 (a)
ManyToMany
chicken
(Gallus gallus)
Aves MYBPC2 34
  • 71.36 (n)
lizard
(Anolis carolinensis)
Reptilia MYBPC2 35
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mybpc2a 34 35
  • 63.82 (n)
mybpc2b 35
  • 62 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToMany
Species where no ortholog for MYBPC2 was found in the sources mined by GeneCards:
  • 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
rs1000004089 -- 50,434,081(+) GGCCC(A/G)GTGCG intron-variant
rs1000122800 -- 50,465,409(+) CTAAC(C/T)GTGTC intron-variant
rs1000360663 -- 50,439,340(+) CTGAC(C/G/T)CACCC intron-variant
rs1000525881 -- 50,455,060(+) TCATG(A/C)CCCAT intron-variant
rs1000672654 -- 50,465,974(+) GACCG(C/T)GTACA intron-variant

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

Variant ID Type Subtype PubMed ID
esv1338683 CNV deletion 17803354
esv2661463 CNV deletion 23128226
esv2718733 CNV deletion 23290073
esv2718734 CNV deletion 23290073
esv2718735 CNV deletion 23290073
nsv1066389 CNV gain 25217958
nsv1133010 OTHER inversion 24896259
nsv1135852 CNV deletion 24896259
nsv1140251 OTHER inversion 24896259
nsv1152956 OTHER inversion 26484159
nsv509750 CNV insertion 20534489

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

Human Gene Mutation Database (HGMD)
MYBPC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYBPC2

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

Disorders for MYBPC2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
intrinsic cardiomyopathy
cardiomyopathy, hypertrophic, 4
  • hypertrophic cardiomyopathy 4
distal arthrogryposis
  • arthrogryposis, distal, type 2b
cardiomyopathy
  • cardiomyopathies
cardiomyopathy, familial hypertrophic
  • cardiomyopathy, hypertrophic, 1
- 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 22 64
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. 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 22 64
  4. 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 22 64
  5. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. (PMID: 23414517) Blandin G. … Richard I. (Skelet Muscle 2013) 3 64

Products for MYBPC2 Gene

Sources for MYBPC2 Gene

Content
Loading form....