Details for: MYBPC3

Gene ID: 4607

Symbol: MYBPC3

Ensembl ID: ENSG00000134571

Description: myosin binding protein C3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 19.9887
    Cell Significance Index: -5.0700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 9.1049
    Cell Significance Index: 698.7000
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 4.8020
    Cell Significance Index: 21.2600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 4.7807
    Cell Significance Index: 70.5800
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 3.6639
    Cell Significance Index: 10.5000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.7184
    Cell Significance Index: 105.3600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.9303
    Cell Significance Index: 29.8000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.8891
    Cell Significance Index: 12.1300
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.6334
    Cell Significance Index: 9.1100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5476
    Cell Significance Index: 104.2100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.4805
    Cell Significance Index: 6.9000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4501
    Cell Significance Index: 12.0600
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.3864
    Cell Significance Index: 5.6100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3494
    Cell Significance Index: 34.5600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.3153
    Cell Significance Index: 6.7200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2805
    Cell Significance Index: 253.2700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.2674
    Cell Significance Index: 3.8300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2069
    Cell Significance Index: 22.5000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1901
    Cell Significance Index: 11.4100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1814
    Cell Significance Index: 29.5000
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.1039
    Cell Significance Index: 1.2900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0965
    Cell Significance Index: 6.6800
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.0394
    Cell Significance Index: 0.5600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0324
    Cell Significance Index: 22.4300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0305
    Cell Significance Index: 0.4500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0230
    Cell Significance Index: 0.5900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0188
    Cell Significance Index: 0.4700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0175
    Cell Significance Index: 3.4800
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.0144
    Cell Significance Index: 0.1900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0061
    Cell Significance Index: 1.1100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0006
    Cell Significance Index: 0.0200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0005
    Cell Significance Index: 0.0100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0003
    Cell Significance Index: -0.0100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0011
    Cell Significance Index: -2.0800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0012
    Cell Significance Index: -1.7900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0016
    Cell Significance Index: -3.0300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0018
    Cell Significance Index: -2.4400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0049
    Cell Significance Index: -3.6000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0050
    Cell Significance Index: -3.2000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0056
    Cell Significance Index: -1.1300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0063
    Cell Significance Index: -4.6700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0067
    Cell Significance Index: -3.0500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0068
    Cell Significance Index: -0.3100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0069
    Cell Significance Index: -5.2000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0079
    Cell Significance Index: -4.9100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0082
    Cell Significance Index: -4.6500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0084
    Cell Significance Index: -3.0300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0090
    Cell Significance Index: -4.9100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0094
    Cell Significance Index: -0.2400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0114
    Cell Significance Index: -3.2800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0169
    Cell Significance Index: -0.3500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0185
    Cell Significance Index: -2.6900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0188
    Cell Significance Index: -3.2100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0208
    Cell Significance Index: -2.5600
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.0230
    Cell Significance Index: -0.2800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0233
    Cell Significance Index: -4.9000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0298
    Cell Significance Index: -3.5200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0310
    Cell Significance Index: -3.5500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0350
    Cell Significance Index: -3.5800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0364
    Cell Significance Index: -5.0000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0378
    Cell Significance Index: -4.4000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0405
    Cell Significance Index: -0.6100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0459
    Cell Significance Index: -2.1400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0496
    Cell Significance Index: -5.1600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0554
    Cell Significance Index: -0.9500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0578
    Cell Significance Index: -3.5500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0600
    Cell Significance Index: -3.0300
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0629
    Cell Significance Index: -0.4100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0646
    Cell Significance Index: -4.1700
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: -0.0648
    Cell Significance Index: -0.7300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0651
    Cell Significance Index: -4.3800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0661
    Cell Significance Index: -1.8500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0663
    Cell Significance Index: -2.7200
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: -0.0718
    Cell Significance Index: -0.7600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0755
    Cell Significance Index: -3.9200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0789
    Cell Significance Index: -4.4300
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.0791
    Cell Significance Index: -1.1100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0799
    Cell Significance Index: -1.5600
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0843
    Cell Significance Index: -1.2800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0849
    Cell Significance Index: -2.3100
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: -0.0886
    Cell Significance Index: -1.0100
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0892
    Cell Significance Index: -1.3000
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.0898
    Cell Significance Index: -1.2300
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0920
    Cell Significance Index: -1.3100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0938
    Cell Significance Index: -4.4100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0999
    Cell Significance Index: -4.4200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1065
    Cell Significance Index: -2.8000
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.1088
    Cell Significance Index: -1.7500
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1097
    Cell Significance Index: -2.7400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1131
    Cell Significance Index: -2.0900
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.1147
    Cell Significance Index: -1.1900
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.1172
    Cell Significance Index: -1.5800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1176
    Cell Significance Index: -4.1200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1196
    Cell Significance Index: -4.5300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1198
    Cell Significance Index: -3.5300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1210
    Cell Significance Index: -3.2300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1225
    Cell Significance Index: -2.9900
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: -0.1258
    Cell Significance Index: -1.0400
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: -0.1265
    Cell Significance Index: -1.4200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1296
    Cell Significance Index: -4.1000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Expression Pattern:** MYBPC3 is predominantly expressed in ventricular and atrial cardiac myocytes, as well as in lymphocytes, fibroblasts, and endothelial cells of cardiac tissue. 2. **Protein Structure:** MYBPC3 is a type of myosin binding protein that interacts with the myosin heavy chain, regulating the interaction between actin and myosin filaments. 3. **Function:** MYBPC3 plays a crucial role in regulating muscle contraction, relaxation, and overall cardiac performance by modulating the interaction between actin and myosin filaments. **Pathways and Functions:** 1. **Cardiac Muscle Contraction:** MYBPC3 is involved in regulating the contraction and relaxation of cardiac muscle cells by modulating the interaction between actin and myosin filaments. 2. **Muscle Filament Sliding:** MYBPC3 regulates the sliding of muscle filaments, which is essential for muscle contraction and relaxation. 3. **Striated Muscle Contraction:** MYBPC3 is essential for regulating the contraction of striated muscle, including cardiac muscle. 4. **Sarcomere Organization:** MYBPC3 plays a crucial role in maintaining the organization and structure of the sarcomere, the functional unit of striated muscle. **Clinical Significance:** Dysregulation of MYBPC3 has been implicated in various cardiac disorders, including: 1. **Hypertrophic Cardiomyopathy (HCM):** Mutations in MYBPC3 have been identified as a common cause of HCM, a condition characterized by abnormal thickening of the cardiac muscle. 2. **Cardiac Arrhythmias:** MYBPC3 mutations have been associated with an increased risk of cardiac arrhythmias, including atrial fibrillation. 3. **Heart Failure:** MYBPC3 dysfunction has been linked to an increased risk of heart failure, particularly in patients with HCM. In conclusion, MYBPC3 plays a critical role in maintaining the structural integrity and functional efficiency of cardiac muscle cells. Dysregulation of this gene has significant implications for cardiovascular health, highlighting the need for further research into the molecular mechanisms underlying cardiac disorders.

Genular Protein ID: 1614576899

Symbol: MYPC3_HUMAN

Name: Myosin-binding protein C, cardiac-type

UniProtKB Accession Codes:

Q14896 A5PL00 Q16410 Q6R2F7 Q9UE27 Q9UM53

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 6 CTD 1 ChEBI 4 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 11 EMDB 8 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 22 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 6 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 17 PDBsum 17 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 1 RefSeq 1 SASBDB 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 7744002

Title: Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?

PubMed ID: 7744002

DOI: 10.1002/j.1460-2075.1995.tb07187.x

PubMed ID: 9048664

Title: Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.

PubMed ID: 9048664

DOI: 10.1161/01.res.0000435859.24609.b3

PubMed ID: 9562578

Title: Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.

PubMed ID: 9562578

DOI: 10.1056/nejm199804303381802

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7493026

Title: Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.

PubMed ID: 7493026

DOI: 10.1038/ng1295-438

PubMed ID: 12787675

Title: Structure, stability and dynamics of the central domain of cardiac myosin binding protein C (MyBP-C): implications for multidomain assembly and causes for cardiomyopathy.

PubMed ID: 12787675

DOI: 10.1016/s0022-2836(03)00425-x

PubMed ID: 15213454

Title: Sequence specific assignment of domain C1 of the N-terminal myosin-binding site of human cardiac myosin binding protein C (MyBP-C).

PubMed ID: 15213454

DOI: 10.1023/b:jnmr.0000032510.03606.63

PubMed ID: 18560154

Title: An investigation into the protonation states of the C1 domain of cardiac myosin-binding protein C.

PubMed ID: 18560154

DOI: 10.1107/s0907444908008792

PubMed ID: 18374358

Title: Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy.

PubMed ID: 18374358

DOI: 10.1016/j.jmb.2008.02.044

PubMed ID: 18926831

Title: Myosin binding protein C positioned to play a key role in regulation of muscle contraction: structure and interactions of domain C1.

PubMed ID: 18926831

DOI: 10.1016/j.jmb.2008.09.065

PubMed ID: 9541104

Title: Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.

PubMed ID: 9541104

DOI: 10.1136/jmg.35.3.205

PubMed ID: 9541115

Title: Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.

PubMed ID: 9541115

DOI: 10.1136/jmg.35.3.253

PubMed ID: 10521296

Title: The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

PubMed ID: 10521296

DOI: 10.1086/302623

PubMed ID: 11499718

Title: Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.

PubMed ID: 11499718

DOI: 10.1016/s0735-1097(01)01386-9

PubMed ID: 11499719

Title: Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

PubMed ID: 11499719

DOI: 10.1016/s0735-1097(01)01387-0

PubMed ID: 12379228

Title: Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

PubMed ID: 12379228

DOI: 10.1016/s0006-291x(02)02374-4

PubMed ID: 11815426

Title: Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.

PubMed ID: 11815426

DOI: 10.1161/hc0402.102990

PubMed ID: 12110947

Title: Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.

PubMed ID: 12110947

DOI: 10.1007/s00109-002-0323-9

PubMed ID: 12951062

Title: Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy.

PubMed ID: 12951062

DOI: 10.1016/j.bbrc.2003.08.014

PubMed ID: 12707239

Title: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PubMed ID: 12707239

DOI: 10.1161/01.cir.0000066323.15244.54

PubMed ID: 12974739

Title: Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PubMed ID: 12974739

DOI: 10.1034/j.1399-0004.2003.00151.x

PubMed ID: 14563344

Title: The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

PubMed ID: 14563344

DOI: 10.1016/s0195-668x(03)00466-4

PubMed ID: 12628722

Title: A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.

PubMed ID: 12628722

DOI: 10.1016/s0735-1097(02)02957-1

PubMed ID: 12818575

Title: Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

PubMed ID: 12818575

DOI: 10.1016/s0022-2828(03)00146-9

PubMed ID: 15114369

Title: Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.

PubMed ID: 15114369

DOI: 10.1038/sj.ejhg.5201190

PubMed ID: 15519027

Title: Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

PubMed ID: 15519027

DOI: 10.1016/j.jacc.2004.07.045

PubMed ID: 15582318

Title: Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.

PubMed ID: 15582318

DOI: 10.1016/j.jacc.2004.08.058

PubMed ID: 15563892

Title: Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

PubMed ID: 15563892

DOI: 10.1016/j.cccn.2004.09.016

PubMed ID: 16004897

Title: Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect.

PubMed ID: 16004897

DOI: 10.1016/j.ijcard.2004.05.060

PubMed ID: 16199542

Title: Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

PubMed ID: 16199542

DOI: 10.1136/jmg.2005.033886

PubMed ID: 18957093

Title: Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.

PubMed ID: 18957093

DOI: 10.1186/1471-2350-9-95

PubMed ID: 18929575

Title: Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.

PubMed ID: 18929575

DOI: 10.1016/j.jmb.2008.09.070

PubMed ID: 18403758

Title: Shared genetic causes of cardiac hypertrophy in children and adults.

PubMed ID: 18403758

DOI: 10.1056/nejmoa075463

PubMed ID: 20215591

Title: Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.

PubMed ID: 20215591

DOI: 10.1161/circgenetics.109.912345

PubMed ID: 21551322

Title: Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.

PubMed ID: 21551322

DOI: 10.1161/circgenetics.110.959270

PubMed ID: 23840593

Title: Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

PubMed ID: 23840593

DOI: 10.1371/journal.pone.0067087

PubMed ID: 26163040

Title: Novel phenotype-genotype correlations of restrictive cardiomyopathy with myosin-binding protein C (MYBPC3) gene mutations tested by next-generation sequencing.

PubMed ID: 26163040

DOI: 10.1161/jaha.115.001879

PubMed ID: 28265379

Title: Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.

PubMed ID: 28265379

DOI: 10.1002/ccr3.832

Sequence Information:

  • Length: 1274
  • Mass: 140762
  • Checksum: 4E5385C40085B796
  • Sequence:
    • MPEPGKKPVS AFSKKPRSVE VAAGSPAVFE AETERAGVKV RWQRGGSDIS ASNKYGLATE 
GTRHTLTVRE VGPADQGSYA VIAGSSKVKF DLKVIEAEKA EPMLAPAPAP AEATGAPGEA 
PAPAAELGES APSPKGSSSA ALNGPTPGAP DDPIGLFVMR PQDGEVTVGG SITFSARVAG 
ASLLKPPVVK WFKGKWVDLS SKVGQHLQLH DSYDRASKVY LFELHITDAQ PAFTGSYRCE 
VSTKDKFDCS NFNLTVHEAM GTGDLDLLSA FRRTSLAGGG RRISDSHEDT GILDFSSLLK 
KRDSFRTPRD SKLEAPAEED VWEILRQAPP SEYERIAFQY GVTDLRGMLK RLKGMRRDEK 
KSTAFQKKLE PAYQVSKGHK IRLTVELADH DAEVKWLKNG QEIQMSGSKY IFESIGAKRT 
LTISQCSLAD DAAYQCVVGG EKCSTELFVK EPPVLITRPL EDQLVMVGQR VEFECEVSEE 
GAQVKWLKDG VELTREETFK YRFKKDGQRH HLIINEAMLE DAGHYALCTS GGQALAELIV 
QEKKLEVYQS IADLMVGAKD QAVFKCEVSD ENVRGVWLKN GKELVPDSRI KVSHIGRVHK 
LTIDDVTPAD EADYSFVPEG FACNLSAKLH FMEVKIDFVP RQEPPKIHLD CPGRIPDTIV 
VVAGNKLRLD VPISGDPAPT VIWQKAITQG NKAPARPAPD APEDTGDSDE WVFDKKLLCE 
TEGRVRVETT KDRSIFTVEG AEKEDEGVYT VTVKNPVGED QVNLTVKVID VPDAPAAPKI 
SNVGEDSCTV QWEPPAYDGG QPILGYILER KKKKSYRWMR LNFDLIQELS HEARRMIEGV 
VYEMRVYAVN AIGMSRPSPA SQPFMPIGPP SEPTHLAVED VSDTTVSLKW RPPERVGAGG 
LDGYSVEYCP EGCSEWVAAL QGLTEHTSIL VKDLPTGARL LFRVRAHNMA GPGAPVTTTE 
PVTVQEILQR PRLQLPRHLR QTIQKKVGEP VNLLIPFQGK PRPQVTWTKE GQPLAGEEVS 
IRNSPTDTIL FIRAARRVHS GTYQVTVRIE NMEDKATLVL QVVDKPSPPQ DLRVTDAWGL 
NVALEWKPPQ DVGNTELWGY TVQKADKKTM EWFTVLEHYR RTHCVVPELI IGNGYYFRVF 
SQNMVGFSDR AATTKEPVFI PRPGITYEPP NYKALDFSEA PSFTQPLVNR SVIAGYTAML 
CCAVRGSPKP KISWFKNGLD LGEDARFRMF SKQGVLTLEI RKPCPFDGGI YVCRATNLQG 
EARCECRLEV RVPQ

Genular Protein ID: 3079113968

Symbol: A5YM48_HUMAN

Name: N/A

UniProtKB Accession Codes:

A5YM48

Database IDs:

ARBA 8 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 6 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 2 Gene3D 1 InterPro 10 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 4 Pfam 3 PharmGKB 1 RefSeq 1 SAM 1 SMART 3 SUPFAM 2

Sequence Information:

  • Length: 1274
  • Mass: 140662
  • Checksum: 61637202E7068341
  • Sequence:
    • MPEPGKKPVS AFSKKPRSVE VAAGSPAVFE AETERAGVKV RWQRGGSDIS ASNKYGLATE 
GTRHTLAVRE VGPADQGSYA VIAGSSKVKF DLKVIEAEEA EPMLAPAPAP AEATGAPGEA 
PAPAAELGES APSPKGSSSA ALNGPTPGAP DDPIGLFVMR PQDGEVTVGG SITFSARVAG 
ASLLKPPVVK WFKGKWVDLS SKVGQHLQLH DSYDRASKVY LFELHITDAQ PAFTGSYRCE 
VSTKDKFDCS NFNLTVHEAM GTGDLDLLSA FRRTSLAGGG RRISDSHEDT GILDFSSLLK 
KRDSFRTPRD SKLEAPAEED VWETLRQAPP SEYERIAFQY GVTDLRGMLK RLKGMRRDEK 
KSTAFQKKLE PAYQVSKGHK IRLTVELADH DAEVKWLKDG QEIQMSGSKY IFESIGAKRT 
LTISQCSLAD DAAYQCVVGG EKCSTELFVK EPPVLITRPL EDQLVMVGQR VEFECEVSEE 
GAQVKWLKDG VELTREETFK YRFKKDGQRH HLIINEAMLE DAGHYALCTS GGQALAELIV 
QEKKLEVYQS IADLMVGAKD QAVFKCEVSD ENVRGVWLKN GKELVPDSRI KVSHIGRVHK 
LTIDDVTPAD EADYSFVPEG FACNLSAKLH FMEVKIDFVP RQEPPKIHLD CPGRIPDTIV 
VVAGNKLRLD VPISGDPAPT VIWQKAITQG NKAPARPAPD APEDTGDSDE WVFDKKLLCE 
TEGRVRVETT KDRSIFTVEG AEKEDEGVYT VTVKNPVGED QVNLTVKVID VPDAPAAPKI 
SNVGEDSCTV QWEPPAYDGG QPILGYILER KKKKSYRWMR LNFDLIQELS HEARRMIEGV 
VYEMRVYAVN AIGMSRPSPA SQPFMPIGPP SEPTHLAVED VSDTTVSLKW RPPERVGAGG 
LDGYSVEYCP EGCSEWVAAL QGLTEHTSIL VKDLPTGARL LSRVRAHNMA GPGAPVTTTE 
PVTVQEILQR PRLQLPRHLR QTIQKKVGEP VNLLIPFQGK PRPQVTWTKE GQPLAGEEVS 
IRNSPTDTIL FIRAARRVHS GTYQVTVRIE NMEDKATLVL QVVDKPSPPQ DLRVTDAWGL 
NVALEWKPPQ DVGNTELWGY TVQKADKKTM EWFTVLEHYR RTHCVVPELI IGNGYYFRVF 
SQNMVGFSDR AATTKEPVFI PRPGITYEPP NYKALDFSEA PSFTQPLVNR SVIAGYTAML 
CCAVRGSPKP KISWFKNGLD LGEDARFRMF SKQGVLTLEI RKPCPFDGGI YVCRATNLQG 
EARCECRLEV RVPQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.