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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
External Ids for MYBPC3 Gene
- HGNC: 7551
- Entrez Gene: 4607
- Ensembl: ENSG00000134571
- OMIM: 600958
- UniProtKB: Q14896
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
Summaries 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 Dilated cardiomyopathy (DCM) and Cardiac conduction. 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.
Additional gene information for MYBPC3 Gene
- HGNC(7551)
- Entrez Gene(4607)
- Ensembl(ENSG00000134571)
- OMIM(600958)
- UniProtKB(Q14896)
- Open Targets Platform(ENSG00000134571)
- Monarch Initiative
- Search for MYBPC3 at DataMed
- Search for MYBPC3 at HumanCyc
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
Promoters and enhancers for MYBPC3 Gene
- 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
Genomic Locations for MYBPC3 Gene
- chr11:47,331,406-47,352,702
- (GRCh38/hg38)
- Size:
- 21,297 bases
- Orientation:
- Minus strand
- chr11:47,352,957-47,374,253
- (GRCh37/hg19)
- 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:
-
- 11p11.2 by HGNC
- 11p11.2 by Entrez Gene
- 11p11.2 by Ensembl
MYBPC3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MYBPC3 Gene
Proteins for MYBPC3 Gene
-
Protein details for MYBPC3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q14896-MYPC3_HUMAN
- Recommended name:
- Myosin-binding protein C, cardiac-type
- Protein Accession:
- Q14896
- 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
Protein Expression for MYBPC3 Gene
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:
Antibody Products
- NSJ Bioreagents MYBPC3 Antibody
- Creative Diagnostics Anti-MYBPC3 (aa 188-218) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for MYBPC3
- Novus Biologicals Antibodies for MYBPC3
-
Abcam antibodies for MYBPC3
- Invitrogen Antibodies for MYBPC3 (AFLGC-MYBPC3)
-
Boster Bio Antibodies for MYBPC3
-
Santa Cruz Biotechnology (SCBT) Antibodies for MYBPC3
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for MYBPC3
- Origene Custom Protein Services for MYBPC3
- Novus Biologicals proteins for MYBPC3
- ProSpec Recombinant Proteins for MYBPC3
- antibodies-online: Show 5 available MYBPC3 Proteins ranked by validation data
- Compare Top MYBPC3 Proteins
-
Quality Products:
-
Abcam proteins for MYBPC3
Assay Products
- antibodies-online: Show 28 available MYBPC3 Elisa Kits ranked by validation data
- Compare Top MYBPC3 Elisa Kits
-
Quality Products:
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
- ProtoNet:
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- Family:
-
- Belongs to the immunoglobulin superfamily. MyBP family.
Function for MYBPC3 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001671 | ATPase activator activity | ISS | -- |
| GO:0003779 | actin binding | IEA | -- |
| GO:0005515 | protein binding | IEA,IPI | 21569246 |
| GO:0008307 | structural constituent of muscle | IMP | 7493025 |
| GO:0017022 | myosin binding | IDA | 10024460 |
Phenotypes for MYBPC3 Gene
- MGI mutant phenotypes for MYBPC3:
- inferred from 8 alleles
- GenomeRNAi human phenotypes for MYBPC3:
Animal Models for MYBPC3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MYBPC3 - Select products 50% OFF >
- * MYBPC3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MYBPC3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MYBPC3
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYBPC3
miRNA for MYBPC3 Gene
- miRTarBase miRNAs that target MYBPC3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MYBPC3
- Browse OriGene Inhibitory RNA Products For MYBPC3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYBPC3
Clone Products
- Applied Biological Materials (abm): Clones for MYBPC3 - Select products 50% OFF >
- * MYBPC3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MYBPC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYBPC3
Cell Line Products
-
Horizon Cell Lines for MYBPC3
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYBPC3 Gene
Localization for MYBPC3 Gene
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0005863 | striated muscle myosin thick filament | IEA,ISS | -- |
| GO:0014705 | C zone | NAS | 15166115 |
| GO:0030017 | sarcomere | IDA | 10024460 |
| GO:0031672 | A band | IDA | 10024460 |
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
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Dilated cardiomyopathy (DCM) | ||
| 2 | Striated Muscle Contraction | ||
| 3 | Cardiac conduction | ||
Pathways by source for MYBPC3 Gene
1 BioSystems pathway for MYBPC3 Gene
2 Reactome pathways for MYBPC3 Gene
2 KEGG pathways for MYBPC3 Gene
Interacting Proteins for MYBPC3 Gene
Selected Interacting proteins:
Q14896-MYPC3_HUMAN
ENSP00000442795
for MYBPC3 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for MYBPC3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003007 | heart morphogenesis | IMP | 7493025 |
| GO:0006942 | regulation of striated muscle contraction | IEA,ISS | -- |
| GO:0007155 | cell adhesion | IEA | -- |
| GO:0030049 | muscle filament sliding | TAS | -- |
| GO:0032781 | positive regulation of ATPase activity | ISS | -- |
Transcripts for MYBPC3 Gene
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 :
-
- ENST00000256993 4217 nts (view in UCSC)
- ENST00000399249 4217 nts (view in UCSC)
- ENST00000544791 2772 nts (view in UCSC)
- ENST00000545968 4217 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MYBPC3 - Select products 50% OFF >
- * MYBPC3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MYBPC3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MYBPC3
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYBPC3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MYBPC3
- Browse OriGene Inhibitory RNA Products For MYBPC3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYBPC3
Clone Products
- Applied Biological Materials (abm): Clones for MYBPC3 - Select products 50% OFF >
- * MYBPC3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MYBPC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYBPC3
| 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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Primitive Heart Tube Cells Primitive Heart Tube
- Heart Tube
- heart/ventricle
- atrial myocardium
- Heart Muscle
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
- Granulosa Cells Primary Follicle
-
Testis (Reproductive System)
- Sertoli cells Seminiferous Tubules
- Blood (Cardiovascular System)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYBPC3
SOURCE GeneReport for Unigene cluster for MYBPC3 Gene:
Hs.524906Evidence on tissue expression from TISSUES for MYBPC3 Gene
- Heart(5)
- Muscle(3.8)
- Blood(2.3)
- Liver(2.2)
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
Primer Products
-
OriGene qPCR primer pairs for MYBPC3
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MYBPC3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MYBPC3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MYBPC3 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Mybpc3 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mybpc3 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | MYBPC3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MYBPC3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MYBPC3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MYBPC3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mybpc3 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398261 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | mybpc3 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4662 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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)
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
Variants for MYBPC3 Gene
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 |
|---|---|---|---|---|---|
| 177688 | Benign: not specified | 47,349,933(-) | AGG/. | INTRON_VARIANT | |
| 181036 | Uncertain Significance: Hypertrophic cardiomyopathy | 47,350,052(-) | A/G | MISSENSE_VARIANT | |
| 181038 | Pathogenic: Hypertrophic cardiomyopathy | 47,350,035(-) | G/A | NONSENSE | |
| 188522 | Uncertain Significance: Hypertrophic cardiomyopathy | 47,351,343(-) | C/T | MISSENSE_VARIANT | |
| 188523 | Benign: not provided | 47,351,198(-) | C/G | INTRON_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYBPC3 Gene
Disorders for MYBPC3 Gene
(36) MalaCards diseases for MYBPC3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cardiomyopathy, familial hypertrophic, 4 |
|
|
| left ventricular noncompaction 10 |
|
|
| hypertrophic cardiomyopathy |
|
|
| left ventricular noncompaction |
|
|
| cardiac conduction defect |
|
Search MYBPC3 in MalaCards
View complete list of genes associated with diseases
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 mutations 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 mutations 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 mutations affecting the gene represented in this entry.
Additional Disease Information for MYBPC3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for MYBPC3 Gene
Publications for MYBPC3 Gene
- 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 23 41
- Shared genetic causes of cardiac hypertrophy in children and adults. (PMID: 18403758) Morita H … Seidman CE (The New England journal of medicine 2008) 3 4 23 41
- Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy. (PMID: 18929575) Bahrudin U … Hisatome I (Journal of molecular biology 2008) 3 4 23 41
- Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PMID: 16199542) Ingles J … Semsarian C (Journal of medical genetics 2005) 3 4 23 41
- Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PMID: 15563892) Song L … Hui R (Clinica chimica acta; international journal of clinical chemistry 2005) 3 4 23 41
ExternalLinks
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