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 enc... See more...

Aliases for MYBPC2 Gene

Aliases for MYBPC2 Gene

  • Myosin Binding Protein C2 2 3 5
  • Myosin-Binding Protein C, Fast-Type 2 3 4
  • MYBPCF 2 3 4
  • Fast Skeletal-Type Muscle Myosin-Binding-Protein C 2 3
  • Fast-Type Muscle Myosin-Binding-Protein C 2 3
  • Fast MyBP-C 3 4
  • FsMyBP-C 2 3
  • C-Protein, Skeletal Muscle Fast Isoform 4
  • Myosin Binding Protein C, Fast Type 3
  • Testicular Tissue Protein Li 126 3
  • MGC163408 2
  • MYBPC2 5
  • 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 C2) is a Protein Coding gene. Diseases associated with MYBPC2 include Lethal Congenital Contracture Syndrome 4 and Hypertrophic Cardiomyopathy. Among its related pathways are Cardiac conduction and Striated Muscle Contraction. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for MYBPC2 Gene

Genomics for MYBPC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYBPC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J050430 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 -0.6 -565 4.5 EZH2 SP1 ZNF207 NCOR1 IKZF1 POLR2A ZNF223 BRCA1 NFIC ZIC2 HSALNG0127099 MYBPC2 lnc-FAM71E1-3 ASPDH SPIB
GH19J050489 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.1 +57.9 57901 3.8 IKZF1 ZNF341 ZNF148 ZNF843 ESRRA ZNF48 POLR2A GLIS1 LARP7 ZNF701 SNORD35A NUP62 POLD1 PTOV1-AS2 PRR12 SNORD35B IRF3 RPS11 ENSG00000268047 PNKP
GH19J050496 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 2 +66.5 66455 6.1 NCOR1 IKZF1 ZMYM3 ZNF10 NFIC ZIC2 ZBTB10 REST BHLHE40 ZNF341 PRR12 ENSG00000268047 NUP62 CTU1 NR1H2 BCL2L12 RRAS POLD1 ADM5 PTOV1
GH19J050427 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 0.7 -4.3 -4305 2.2 POLR2A EBF1 BHLHE40 SPI1 REST TAF1 ZBTB33 IKZF1 NR2F1 ZMYM3 SPIB ASPDH HSALNG0127099 MYBPC2 piR-54261 ENSG00000142539
GH19J050459 Enhancer 1.1 Ensembl ENCODE 0.3 +27.9 27885 2.4 BCLAF1 ZNF654 MYC ZBTB10 CTCF REST TRIM22 ZNF341 ZFP64 FOXA2 PRR12 ASPDH ETFB HSALNG0127102 lnc-JOSD2-5 EMC10 MYBPC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYBPC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYBPC2

Top Transcription factor binding sites by QIAGEN in the MYBPC2 gene promoter:
  • GR
  • GR-alpha
  • NF-kappaB1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A

Genomic Locations for MYBPC2 Gene

Latest Assembly
chr19:50,432,892-50,466,321
(GRCh38/hg38)
Size:
33,430 bases
Orientation:
Plus strand

Previous Assembly
chr19:50,936,149-50,969,578
(GRCh37/hg19 by Entrez Gene)
Size:
33,430 bases
Orientation:
Plus strand

chr19:50,936,160-50,969,578
(GRCh37/hg19 by Ensembl)
Size:
33,419 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

Gene Families for MYBPC2 Gene

Protein Domains for MYBPC2 Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin I-set
  • Fibronectin type III repeat signature

Suggested Antigen Peptide Sequences for MYBPC2 Gene

GenScript: Design optimal peptide antigens:
  • C-protein, skeletal muscle fast isoform (MYPC2_HUMAN)

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

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.
GENATLAS Biochemistry:
myosin,and titin binding protein C,skeletal muscle,fast type,expressed in the A band of sarcomeres

Phenotypes From GWAS Catalog for MYBPC2 Gene

Gene Ontology (GO) - Molecular Function for MYBPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 23414517
GO:0008307 structural constituent of muscle TAS 8375400
genes like me logo Genes that share ontologies with MYBPC2: view
genes like me logo Genes that share phenotypes with MYBPC2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
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 4
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MYBPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
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 and Subcellular locations from the Human Protein Atlas (HPA) for MYBPC2 Gene

Pathways & Interactions for MYBPC2 Gene

PathCards logo

SuperPathways 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: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

Drugs & Compounds for MYBPC2 Gene

No Compound Related Data Available

Transcripts for MYBPC2 Gene

mRNA/cDNA for MYBPC2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYBPC2

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

No ASD Table

Relevant External Links for MYBPC2 Gene

GeneLoc Exon Structure for
MYBPC2

Expression for MYBPC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for MYBPC2 Gene



Protein tissue co-expression partners for MYBPC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYBPC2

SOURCE GeneReport for Unigene cluster for MYBPC2 Gene:

Hs.85937

Evidence on tissue expression from TISSUES for MYBPC2 Gene

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

Primer products for research

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 30
  • 89 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MYBPC2 29 30
  • 87.89 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mybpc2 29 16 30
  • 85.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mybpc2 29
  • 85.22 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MYBPC2 30
  • 78 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 15 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves MYBPC2 29
  • 71.36 (n)
Lizard
(Anolis carolinensis)
Reptilia MYBPC2 30
  • 74 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii mybpc2a 29 30
  • 63.82 (n)
OneToMany
mybpc2b 30
  • 62 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 35 (a)
OneToMany
Species where no ortholog for MYBPC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYBPC2: view image
Alliance of Genome Resources:
Additional Orthologs for MYBPC2

Paralogs for MYBPC2 Gene

Paralogs for MYBPC2 Gene

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

  • MYPC2_HUMAN
genes like me logo Genes that share paralogs with MYBPC2: view

Variants for MYBPC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYBPC2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs201910994 Uncertain Significance: Flexion contracture 50,441,014(+) C/T
NM_004533.4(MYBPC2):c.707C>T (p.Thr236Ile)
MISSENSE
rs374646145 Uncertain Significance: Flexion contracture 50,462,002(+) C/T
NM_004533.4(MYBPC2):c.3194C>T (p.Ala1065Val)
MISSENSE
rs377503167 Uncertain Significance: Flexion contracture 50,441,071(+) G/C
NM_004533.4(MYBPC2):c.764G>C (p.Ser255Thr)
MISSENSE
rs976232072 Uncertain Significance: Flexion contracture 50,443,511(+) T/C
NM_004533.4(MYBPC2):c.920T>C (p.Val307Ala)
MISSENSE
rs25665 -- p.Val624Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYBPC2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for MYBPC2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for MYBPC2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for MYBPC2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
lethal congenital contracture syndrome 4
  • lccs4
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
hemochromatosis, type 2b
  • hfe2b
nemaline myopathy 9
  • nem9
distal arthrogryposis
  • arthrogryposis multiplex congenita
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MYBPC2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 FE … Fischman DA (European journal of biochemistry 1993) 2 3 4 22
  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 SD … DREAM investigators (Diabetes care 2010) 3 40
  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 RE … Fischman DA (Journal of cell science 2002) 3 22
  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 TN … Fischman DA (The Journal of biological chemistry 1997) 3 22
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3

Products for MYBPC2 Gene

Sources for MYBPC2 Gene