MYBPC3 Gene (Protein Coding)

Myosin Binding Protein C3

GC11M066255
GIFtS:
47
MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adren... See more...

Aliases for MYBPC3 Gene

Aliases for MYBPC3 Gene

  • Myosin Binding Protein C3 2 3 5
  • Myosin-Binding Protein C, Cardiac-Type 3 4
  • CMyBP-C 2 3
  • FHC 2 3
  • Truncated Cardiac Myosin-Binding Protein C 3
  • Myosin-Binding Protein C, Cardiac 2
  • Myosin Binding Protein C, Cardiac 3
  • C-Protein, Cardiac Muscle Isoform 4
  • Cardiac MyBP-C 4
  • CMD1MM 3
  • LVNC10 3
  • MYBP-C 3
  • MYBPC3 5
  • CMH4 3

External Ids for MYBPC3 Gene

Previous HGNC Symbols for MYBPC3 Gene

  • CMH4

Previous GeneCards Identifiers for MYBPC3 Gene

  • GC11M049292
  • GC11M048230
  • GC11M047384
  • GC11M047317
  • GC11M047309
  • GC11M047052
  • GC11M047402
  • GC11M048073
  • GC11M048799
  • GC11M049901
  • GC11M047520
  • GC11M047946
  • GC11M055812
  • GC11M056038
  • GC11M056175
  • GC11M059693
  • GC11M050798
  • GC11M051593
  • GC11M052255
  • GC11M052915
  • GC11M053583
  • GC11M054249
  • GC11M054915
  • GC11M055615
  • GC11M061124
  • GC11M063608

Summaries for MYBPC3 Gene

Entrez Gene Summary for MYBPC3 Gene

  • MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYBPC3 Gene

MYBPC3 (Myosin Binding Protein C3) is a Protein Coding gene. Diseases associated with MYBPC3 include Cardiomyopathy, Familial Hypertrophic, 4 and Left Ventricular Noncompaction 10. Among its related pathways are Cardiac conduction and Dilated cardiomyopathy. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural constituent of muscle. An important paralog of this gene is MYBPC2.

UniProtKB/Swiss-Prot Summary for MYBPC3 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.

Gene Wiki entry for MYBPC3 Gene

Additional gene information for MYBPC3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYBPC3 Gene

Genomics for MYBPC3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MYBPC3 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
GH11J047349 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 262 +1.8 1802 3.8 ZNF654 CEBPA NFIC REST CEBPB CTCF RAD21 SMC3 POLR2A ZNF652 MYBPC3 C1QTNF4 ACP2 ENSG00000271350 C11orf49 ENSG00000255197 HSALNG0084049 MADD
GH11J047353 Enhancer 0.6 Ensembl dbSUPER 250.7 -1.5 -1499 0.4 ZIC2 ZMYM3 ESRRA MYBPC3 NONHSAG008235.2 PACSIN3 SPI1
GH11J047390 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 -40.7 -40707 6.4 BCLAF1 SP1 ZNF207 MYC ZNF592 POLR2A CEBPA BCL11A CTCF TARDBP SPI1 lnc-SLC39A13-1 C1QTNF4 MYBPC3 FNBP4 CELF1 ENSG00000255197 PSMC3 LRP4 MADD
GH11J047373 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.8 -23.9 -23940 6.2 BCLAF1 ZNF654 ZNF207 MYC NCOR1 IKZF1 ZNF592 POLR2A CEBPA NFIC SPI1 FNBP4 NUP160 ENSG00000200090 C1QTNF4 SLC39A13 PSMC3 ENSG00000255197 ENSG00000270060 MDK
GH11J047996 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.7 -656.2 -656181 24.6 BCLAF1 SP1 MYC ZNF600 NCOR1 JUND ATF2 POLR2A CEBPA ATF3 ENSG00000200090 PTPRJ FNBP4 NUP160 MADD ENSG00000270060 DDB2 MYBPC3 CELF1 ACP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYBPC3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYBPC3

Top Transcription factor binding sites by QIAGEN in the MYBPC3 gene promoter:
  • AML1a
  • AP-1
  • Egr-1
  • ER-alpha
  • HOXA5
  • NF-kappaB
  • NF-kappaB1
  • SREBP-1a
  • SREBP-1b

Genomic Locations for MYBPC3 Gene

Latest Assembly
chr11:47,331,406-47,352,702
(GRCh38/hg38)
Size:
21,297 bases
Orientation:
Minus strand

Previous Assembly
chr11:47,352,957-47,374,253
(GRCh37/hg19 by Entrez Gene)
Size:
21,297 bases
Orientation:
Minus strand

chr11:47,352,957-47,374,253
(GRCh37/hg19 by Ensembl)
Size:
21,297 bases
Orientation:
Minus strand

Genomic View for MYBPC3 Gene

Genes around MYBPC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYBPC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYBPC3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MYBPC3 Gene

Proteins for MYBPC3 Gene

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  • Protein details for MYBPC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14896-MYPC3_HUMAN
    Recommended name:
    Myosin-binding protein C, cardiac-type
    Protein Accession:
    Q14896
    Secondary Accessions:
    • A5PL00
    • Q16410
    • Q6R2F7
    • Q9UE27
    • Q9UM53

    Protein attributes for MYBPC3 Gene

    Size:
    1274 amino acids
    Molecular mass:
    140762 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MYBPC3 Gene

    Alternative splice isoforms for MYBPC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYBPC3 Gene

Protein Expression for MYBPC3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MYBPC3 Gene

  • Substrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction (By similarity).
  • Polyubiquitinated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYBPC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYBPC3 Gene

Domains & Families for MYBPC3 Gene

Gene Families for MYBPC3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MYBPC3 Gene

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

Suggested Antigen Peptide Sequences for MYBPC3 Gene

GenScript: Design optimal peptide antigens:
  • MYBPC3 protein (A5YM48_HUMAN)
  • Mutant cardiac myosin-binding protein C (B6D425_HUMAN)
  • Mutant cardiac myosin-binding protein C (B6D426_HUMAN)
  • Myosin binding protein C, cardiac, isoform CRA_b (D3DQR5_HUMAN)
  • C-protein, cardiac muscle isoform (MYPC3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14896

UniProtKB/Swiss-Prot:

MYPC3_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 MYBPC3: view

Function for MYBPC3 Gene

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Molecular function for MYBPC3 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 C3,expressed in the A band of sarcomeres,including two isoforms cardiac and fast skeletal muscle,interacting with beta myosin S2

Phenotypes From GWAS Catalog for MYBPC3 Gene

Gene Ontology (GO) - Molecular Function for MYBPC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity ISS --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 21569246
GO:0008307 structural constituent of muscle IMP 7493025
GO:0017022 myosin binding IDA 10024460
genes like me logo Genes that share ontologies with MYBPC3: view
genes like me logo Genes that share phenotypes with MYBPC3: view

Human Phenotype Ontology for MYBPC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYBPC3 Gene

MGI Knock Outs for MYBPC3:

Animal Models for research

miRNA for MYBPC3 Gene

miRTarBase miRNAs that target MYBPC3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYBPC3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYBPC3 Gene

Localization for MYBPC3 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 MYBPC3 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MYBPC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005863 striated muscle myosin thick filament ISS --
GO:0014705 C zone NAS 15166115
GO:0030017 sarcomere IDA 10024460
GO:0031672 A band IDA 10024460
genes like me logo Genes that share ontologies with MYBPC3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for MYBPC3 Gene

Pathways & Interactions for MYBPC3 Gene

genes like me logo Genes that share pathways with MYBPC3: view

Pathways by source for MYBPC3 Gene

1 BioSystems pathway for MYBPC3 Gene
2 Reactome pathways for MYBPC3 Gene
2 KEGG pathways for MYBPC3 Gene

SIGNOR curated interactions for MYBPC3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MYBPC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003007 heart morphogenesis IMP 7493025
GO:0006942 regulation of striated muscle contraction ISS --
GO:0007155 cell adhesion IEA --
GO:0030049 muscle filament sliding TAS --
GO:0032781 positive regulation of ATPase activity ISS --
genes like me logo Genes that share ontologies with MYBPC3: view

Drugs & Compounds for MYBPC3 Gene

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(2) Drugs for MYBPC3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MYBPC3: view

Transcripts for MYBPC3 Gene

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mRNA/cDNA for MYBPC3 Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
4 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 MYBPC3

Alternative Splicing Database (ASD) splice patterns (SP) for MYBPC3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 19a · 19b ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -

Relevant External Links for MYBPC3 Gene

GeneLoc Exon Structure for
MYBPC3

Expression for MYBPC3 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYBPC3 Gene

mRNA expression in normal human tissues for MYBPC3 Gene
mRNA expression by BioGPS for MYBPC3 GenemRNA expression by GTEx for MYBPC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYBPC3 Gene

This gene is overexpressed in Heart - Left Ventricle (x33.5) and Heart - Atrial Appendage (x18.2).

Protein differential expression in normal tissues from HIPED for MYBPC3 Gene

This gene is overexpressed in Heart (51.5) and Fetal heart (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MYBPC3 Gene



Protein tissue co-expression partners for MYBPC3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYBPC3

SOURCE GeneReport for Unigene cluster for MYBPC3 Gene:

Hs.524906

Evidence on tissue expression from TISSUES for MYBPC3 Gene

  • Heart(5)
  • Muscle(3.6)
  • Blood(2.1)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYBPC3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with MYBPC3: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for MYBPC3 Gene

Orthologs for MYBPC3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYBPC3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MYBPC3 29 30
  • 97.37 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MYBPC3 29 30
  • 88.61 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MYBPC3 29 30
  • 87.75 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Mybpc3 29 16 30
  • 85.98 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mybpc3 29
  • 85.3 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MYBPC3 30
  • 83 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MYBPC3 30
  • 71 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MYBPC3 29 30
  • 66.03 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MYBPC3 30
  • 60 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mybpc3 29
  • 66.88 (n)
African clawed frog
(Xenopus laevis)
 Amphibia LOC398261 29
Zebrafish
(Danio rerio)
 Actinopterygii mybpc3 29 30
  • 63.89 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.4662 29
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 34 (a)
 OneToMany
Species where no ortholog for MYBPC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MYBPC3 Gene

ENSEMBL:
Gene Tree for MYBPC3 (if available)
TreeFam:
Gene Tree for MYBPC3 (if available)
Alliance of Genome Resources:
Additional Orthologs for MYBPC3

Paralogs for MYBPC3 Gene

Paralogs for MYBPC3 Gene

(11) SIMAP similar genes for MYBPC3 Gene using alignment to 7 proteins:

  • MYPC3_HUMAN
  • A5YM48_HUMAN
  • A8MXZ9_HUMAN
  • B6D425_HUMAN
  • B6D426_HUMAN
  • D3DQR5_HUMAN
  • F5GZR4_HUMAN
genes like me logo Genes that share paralogs with MYBPC3: view

Variants for MYBPC3 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYBPC3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1000925 Uncertain Significance: Hypertrophic cardiomyopathy 47,333,948(-) G/C
NM_000256.3(MYBPC3):c.2968C>G (p.Pro990Ala) 		MISSENSE
1001685 Uncertain Significance: Hypertrophic cardiomyopathy 47,343,102(-) T/A
NM_000256.3(MYBPC3):c.1270A>T (p.Ser424Cys) 		MISSENSE
1002029 Uncertain Significance: Hypertrophic cardiomyopathy 47,349,868(-) G/C
NM_000256.3(MYBPC3):c.560C>G (p.Pro187Arg) 		MISSENSE
1003799 Uncertain Significance: Hypertrophic cardiomyopathy 47,342,079(-) C/T
NM_000256.3(MYBPC3):c.1702G>A (p.Val568Ile) 		MISSENSE
1004745 Uncertain Significance: Hypertrophic cardiomyopathy 47,351,391(-) C/T
NM_000256.3(MYBPC3):c.140G>A (p.Ser47Asn) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYBPC3 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 MYBPC3 Gene

Variant ID Type Subtype PubMed ID
esv2672909 CNV deletion 23128226
esv3626201 CNV loss 21293372
nsv509404 CNV insertion 20534489
nsv554209 CNV loss 21841781
nsv832141 CNV loss 17160897

Variation tolerance for MYBPC3 Gene

Residual Variation Intolerance Score: 68.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.27; 76.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYBPC3 Gene

Human Gene Mutation Database (HGMD)
MYBPC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYBPC3
Leiden Open Variation Database (LOVD)
MYBPC3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYBPC3 Gene

Disorders for MYBPC3 Gene

MalaCards: The human disease database

(45) MalaCards diseases for MYBPC3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
cardiomyopathy, familial hypertrophic, 4
  • cmh4
left ventricular noncompaction 10
  • lvnc10
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
cardiomyopathy, dilated, 1b
  • cmd1b
cardiac conduction defect
  • cardiac conduction defect, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MYPC3_HUMAN
  • Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:11499718, ECO:0000269 PubMed:11499719, ECO:0000269 PubMed:11815426, ECO:0000269 PubMed:12379228, ECO:0000269 PubMed:12628722, ECO:0000269 PubMed:12707239, ECO:0000269 PubMed:12818575, ECO:0000269 PubMed:12951062, ECO:0000269 PubMed:12974739, ECO:0000269 PubMed:14563344, ECO:0000269 PubMed:15114369, ECO:0000269 PubMed:15519027, ECO:0000269 PubMed:15563892, ECO:0000269 PubMed:16004897, ECO:0000269 PubMed:16199542, ECO:0000269 PubMed:18403758, ECO:0000269 PubMed:18929575, ECO:0000269 PubMed:18957093, ECO:0000269 PubMed:23840593, ECO:0000269 PubMed:28265379, ECO:0000269 PubMed:7744002, ECO:0000269 PubMed:9048664, ECO:0000269 PubMed:9541104, ECO:0000269 PubMed:9541115, ECO:0000269 PubMed:9562578}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1MM (CMD1MM) [MIM:615396]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:20215591}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=MYBPC3 mutations may be involved in restrictive cardiomyopathy (RCM), a rare non-ischemic myocardial disease. RCM is characterized by restrictive ventricular-filling physiology in the presence of normal or reduced diastolic and/or systolic volumes (of 1 or both ventricles), biatrial enlargement, and normal ventricular wall thickness. {ECO:0000269 PubMed:26163040}.
  • Left ventricular non-compaction 10 (LVNC10) [MIM:615396]: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC10 is an autosomal dominant condition. {ECO:0000269 PubMed:21551322}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MYBPC3

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 MYBPC3: view

No data available for Genatlas for MYBPC3 Gene

Publications for MYBPC3 Gene

  1. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. (PMID: 20215591) Hershberger RE … Gonzalez-Quintana J (Circulation. Cardiovascular genetics 2010) 3 4 22 40 72
  2. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. (PMID: 15519027) Van Driest SL … Ackerman MJ (Journal of the American College of Cardiology 2004) 3 4 22 40 72
  3. Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. (PMID: 20433692) Rodríguez-García MI … Hermida-Prieto M (BMC medical genetics 2010) 3 22 40 72
  4. A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. (PMID: 19151713) Dhandapany PS … Thangaraj K (Nature genetics 2009) 3 22 40 72
  5. [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. (PMID: 19150014) García-Castro M … Morís C (Revista espanola de cardiologia 2009) 3 22 40 72

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