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MYBPC3 Gene

protein-coding   GIFtS: 65
GCID: GC11M049901

Myosin Binding Protein C, Cardiac

(Previous names: myosin-binding protein C, cardiac)
(Previous symbol: CMH4)
  See MYBPC3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myosin Binding Protein C, Cardiac1 2     Myosin-Binding Protein C, Cardiac1
CMH41 2 5     FHC2
C-Protein, Cardiac Muscle Isoform2 3     MYBP-C2
CMD1MM2 5     Myosin-Binding Protein C, Cardiac-Type2
LVNC102 5     Cardiac MyBP-C3

External Ids:    HGNC: 75511   Entrez Gene: 46072   Ensembl: ENSG000001345717   OMIM: 6009585   UniProtKB: Q148963   

Export aliases for MYBPC3 gene to outside databases

Previous GC identifers: GC11M049292 GC11M048230 GC11M047384 GC11M047317 GC11M047309 GC11M047052 GC11M047402 GC11M048073 GC11M048799


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 C, cardiac) is a protein-coding gene. Diseases associated with MYBPC3 include left ventricular noncompaction 10, and mybpc3-related dilated cardiomyopathy. GO annotations related to this gene include structural constituent of muscle and identical protein binding. An important paralog of this gene is MYOM1.

UniProtKB/Swiss-Prot: MYPC3_HUMAN, Q14896
Function: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a
bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated
myosin ATPase. It may modulate muscle contraction or may play a more structural role

Gene Wiki entry for MYBPC3 (Myosin binding protein C, cardiac) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYBPC3 gene promoter:
         ER-alpha   AP-1   AML1a   Egr-1   NF-kappaB   SREBP-1b   SREBP-1a   HOXA5   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYBPC3 promoter sequence
   Search Chromatin IP Primers for MYBPC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYBPC3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11.2

MYBPC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYBPC3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M049901:  view genomic region     (about GC identifiers)

Start:
47,352,957 bp from pter      End:
47,374,253 bp from pter
Size:
21,297 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MYPC3_HUMAN, Q14896 (See protein sequence)
Recommended Name: Myosin-binding protein C, cardiac-type  
Size: 1274 amino acids; 140762 Da
6 PDB 3D structures from and Proteopedia for MYBPC3:
1GXE (3D)        1PD6 (3D)        2AVG (3D)        2K1M (3D)        2V6H (3D)        3CX2 (3D)    
Secondary accessions: A5PL00 Q16410 Q6R2F7 Q9UE27 Q9UM53
Alternative splicing: 2 isoforms:  Q14896-1   Q14896-2   

Explore the universe of human proteins at neXtProt for MYBPC3: NX_Q14896

Explore proteomics data for MYBPC3 at MOPED

Post-translational modifications: 

  • Substrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction (By
    similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MYBPC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000247.2  
    ENSEMBL proteins: 
     ENSP00000442795   ENSP00000444259   ENSP00000382193   ENSP00000256993  
    Reactome Protein details: Q14896

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    ISET: Immunoglobulin superfamily / I-set domain containing
    MYBP: Myosin binding proteins

    Selected InterPro protein domains (see all 6):
     IPR003598 Ig_sub2
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q14896

    ProtoNet protein and cluster: Q14896

    4 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB003962 Fibronectin type III repeat signature
    IPB013098 Immunoglobulin I-set
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: MYPC3_HUMAN, Q14896
    Similarity: Belongs to the immunoglobulin superfamily. MyBP family
    Similarity: Contains 3 fibronectin type-III domains
    Similarity: Contains 7 Ig-like C2-type (immunoglobulin-like) domains


    Find genes that share domains with MYBPC3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYPC3_HUMAN, Q14896
    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 entry for MYBPC3:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001671ATPase activator activity ISS--
    GO:0003779actin binding IEA--
    GO:0005515protein binding ----
    GO:0008307structural constituent of muscle IMP7493025
    GO:0017022myosin binding IDA10024460
         
    Find genes that share ontologies with MYBPC3           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MYBPC3:
     Decreased viability with pacli  Synthetic lethal with Ras 

         6 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Mybpc3):
     adipose tissue  behavior/neurological  cardiovascular system  growth/size/body  homeostasis/metabolism 
     muscle 

    Find genes that share phenotypes with MYBPC3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MYBPC3: Mybpc3tm1Lcrr Mybpc3tm1Jse Mybpc3tm1Rmos Mybpc3tm1.1Jse

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYBPC3
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    nucleus2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005863striated muscle myosin thick filament ISS--
    GO:0014705C zone NAS15166115
    GO:0030016myofibril ----
    GO:0030017sarcomere IDA10024460

    Find genes that share ontologies with MYBPC3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MYBPC3 About    
    See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Dilated cardiomyopathy0.75


    Find genes that share SuperPaths with MYBPC3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MYBPC3
        Striated Muscle Contraction

    1 Reactome Pathway for MYBPC3
        Striated Muscle Contraction


    2 Kegg Pathways  (Kegg details for MYBPC3):
        Hypertrophic cardiomyopathy (HCM)
    Dilated cardiomyopathy

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MYBPC3
    Interactions:

        GeneGlobe Interaction Network for MYBPC3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MYBPC3 (Q148961, 2, 3 ENSP000003821934) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6503410 I2D: score=1 STRING: ENSP00000363390
    MYBPC3Q148961, 2EBI-704176,EBI-704176 MINT-6174828 MINT-6174845
    SMURF2Q9HAU42, 3, ENSP000002624354MINT-6503920 I2D: score=1 STRING: ENSP00000262435
    CAPN1P073843, ENSP000002792474I2D: score=3 STRING: ENSP00000279247
    NCF1P145983, ENSP000002894734I2D: score=1 STRING: ENSP00000289473
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002027regulation of heart rate IEA--
    GO:0003007heart morphogenesis IMP7493025
    GO:0006936muscle contraction ----
    GO:0006942regulation of striated muscle contraction ISS--
    GO:0007155cell adhesion IEA--

    Find genes that share ontologies with MYBPC3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MYBPC3 (MYPC3)

    2 Novoseek inferred chemical compound relationships for MYBPC3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arginine 12.1 3 19134269 (1)
    atp 0 2 18573260 (1)



    Find genes that share compounds with MYBPC3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MYBPC3 gene: 
    NM_000256.3  

    Unigene Cluster for MYBPC3:

    Myosin binding protein C, cardiac
    Hs.524906  [show with all ESTs]
    Unigene Representative Sequence: BC142685
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000545968(uc021qis.1) ENST00000544791(uc010rhl.2) ENST00000399249
    ENST00000256993(uc021qir.1)
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      QuantiFast Probe-based Assays in human, mouse, rat MYBPC3

    Additional mRNA sequence: 

    AK291569.1 AK297843.1 BC136543.1 BC136546.1 BC142685.1 BC151211.1 EF560722.1 EU747718.1 
    EU747719.1 S80778.1 

    3 DOTS entries:

    DT.114602  DT.101964765  DT.95265060 

    Selected AceView cDNA sequences (see all 77):

    AL600774 AI332327 AJ709609 AA377609 AL600070 CD607901 C05362 AJ710378 
    AI192890 CF552841 CD607897 AU140784 AJ706951 C05630 S80778 C05523 
    AJ708699 AJ707244 C04273 C04684 AI355388 C04221 AL601194 BI769275 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MYBPC3 (see all 11)    About this scheme

    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:                                                                                                                                                            

    ExUns: 19a · 19b ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for MYBPC3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MYBPC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCAGCAAGC
    MYBPC3 Expression
    About this image


    MYBPC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 10 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             Heart Tube
             Cardiomyocyte-like progenitor cells
             heart muscle ; myocytes   
             Heart Muscle   
     
     Blood (Cardiovascular System)
             mouse/organ system/cardiovascular system   
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
    MYBPC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYBPC3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524906
        Custom PCR Arrays for MYBPC3
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MYBPC3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mybpc31 , 5 myosin binding protein C, cardiac1, 5 85.98(n)1
    89.74(a)1
      2 (50.44 cM)5
    178681  NM_008653.21  NP_032679.21 
     911181445 
    chicken
    (Gallus gallus)
    Aves MYBPC31 myosin binding protein C, cardiac 66.03(n)
    69.4(a)
      396013  NM_205116.1  NP_990447.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYBPC36
    myosin binding protein C, cardiac
    60(a)
    1 ↔ 1
    1(43904717-44008412)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3982612 cardiac myosin-binding protein C 76.42(n)    AF417472.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mybpc31 myosin binding protein C, cardiac 63.89(n)
    64.54(a)
      556489  NM_001044349.2  NP_001037814.2 


    ENSEMBL Gene Tree for MYBPC3 (if available)
    TreeFam Gene Tree for MYBPC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYBPC3 gene
    MYOM12  IGSF222  MYBPH2  IGFN12  MYBPC22  MYBPC12  MYBPHL2  MYOM32  
    MYOM22  
    11 SIMAP similar genes for MYBPC3 using alignment to 7 protein entries:     MYPC3_HUMAN (see all proteins):
    MYBPH    MYBPHL    MYBPC2    DKFZp779M1050    MYBPC1    DKFZp451B236
    DKFZp451H115    DKFZp451M091    DKFZp451E186    MUSK    MYLK

    Find genes that share paralogs with MYBPC3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MYBPC3 (see all 864)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs115701121,2,,4
    C,HCardiomyopathy, familial hypertrophic 4 (CMH4)4 --47281203(-) CTTTCC/GAGGTG 2 Q E mis17Minor allele frequency- G:0.00NS EA NA 594
    rs37299521,2,,4
    C,F,HCardiomyopathy, familial hypertrophic 4 (CMH4)4 --47284774(-) TGAAGC/TGCGGC 2 A V mis1 ese313Minor allele frequency- T:0.01NS EA NA 1522
    rs28566551,2,,4
    C,F,HCardiomyopathy, familial hypertrophic 4 (CMH4)4 pathogenic147284813(-) GATGCG/AGCTGA 2 /Q /R mis1 ese39Minor allele frequency- A:0.01NS EA NA 862
    rs362117231,2,,4
    CCardiomyopathy, familial hypertrophic 4 (CMH4)4 probable-pathogenic147285799(-) TCATCG/AGTGAG 2 /N /D mis12Minor allele frequency- A:0.00NA 4
    rs357364351,2,,4
    CCardiomyopathy, familial hypertrophic 4 (CMH4)4 --47289964(-) AGGACG/AGGCAG 2 /R /G mis14Minor allele frequency- A:0.02NA WA 200
    rs1473150811,2,,4
    CCardiomyopathy, familial hypertrophic 4 (CMH4)4 --47294950(+) CACCTC/TCAGCC 2 E G mis10--------
    VAR_0293904
    Cardiomyopathy, familial hypertrophic 4 (CMH4)4--see VAR_0293902 G R mis40--------
    VAR_0293934
    Cardiomyopathy, familial hypertrophic 4 (CMH4)4--see VAR_0293932 V L mis40--------
    VAR_0199004
    Cardiomyopathy, familial hypertrophic 4 (CMH4)4--see VAR_0199002 A T mis40--------
    VAR_0293924
    Cardiomyopathy, familial hypertrophic 4 (CMH4)4--see VAR_0293922 P S mis40--------

    HapMap Linkage Disequilibrium report for MYBPC3 (47352957 - 47374253 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MYBPC3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672909CNV Deletion23128226
    nsv509404CNV Insertion20534489
    nsv897323CNV Loss21882294
    nsv832141CNV Loss17160897

    Human Gene Mutation Database (HGMD): MYBPC3
    Locus Specific Mutation Databases (LSDB): MYBPC3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYBPC3
    DNA2.0 Custom Variant and Variant Library Synthesis for MYBPC3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600958   
    OMIM disorders: 115197  615396  
    UniProtKB/Swiss-Prot: MYPC3_HUMAN, Q14896
  • 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Left ventricular non-compaction 10 (LVNC10) [MIM:615396]: A disease due to an arrest of myocardial
    morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor
    systolic function, with or without associated left ventricular dilation. In some cases, it is associated with
    other congenital heart anomalies. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 12 diseases for MYBPC3:    
    About MalaCards
    left ventricular noncompaction 10    mybpc3-related dilated cardiomyopathy    mybpc3-related familial hypertrophic cardiomyopathy    cardiomyopathy, dilated, 1mm
    cardiomyopathy, familial hypertrophic, 4    hypertrophic cardiomyopathy    diastolic heart failure    left ventricular noncompaction
    familial hypertrophic cardiomyopathy    restrictive cardiomyopathy    left ventricular noncompaction 1, with or without congenital heart defects    cardiomyopathy, dilated, 1w

    3 diseases from the University of Copenhagen DISEASES database for MYBPC3:
    Hypertrophic cardiomyopathy     Familial hypertrophic cardiomyopathy     Dilated cardiomyopathy

    Find genes that share disorders with MYBPC3           About GenesLikeMe

    10 Novoseek inferred disease relationships for MYBPC3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    death sudden cardiac 72.3 2 16004897 (1), 20019025 (1)
    death sudden 65.4 5 18957093 (1), 16630449 (1), 15519027 (1), 18383048 (1) (see all 5)
    ventricular hypertrophy 65.2 2 19356534 (1)
    cardiomyopathy 63 13 19151713 (2), 17937428 (1), 18403758 (1), 12787675 (1) (see all 5)
    hypertrophy 62.1 10 9800880 (1), 15519027 (1), 9475582 (1), 12860568 (1) (see all 8)
    dilated cardiomyopathy 59.2 4 18957093 (2), 17224687 (1), 20201939 (1)
    cardiomyopathy hypertrophic obstructive 56.3 2 19219553 (1)
    cardiac hypertrophy 51.9 2 15737656 (2)
    heart diseases 43.9 3 15115610 (1), 16566405 (1), 12787675 (1)
    heart failure 38 8 18957093 (1), 17560599 (1), 19151713 (1), 18573260 (1)

    GeneTests: MYBPC3
    GeneReviews: MYBPC3
    Genetic Association Database (GAD): MYBPC3
    Human Genome Epidemiology (HuGE) Navigator: MYBPC3 (47 documents)

    Export disorders for MYBPC3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MYBPC3 gene, integrated from 10 sources (see all 228):
    (articles sorted by number of sources associating them with MYBPC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. (PubMed id 15519027)1, 2, 4, 9 Van Driest S.L.... Ackerman M.J. (J. Am. Coll. Cardiol. 2004)
    2. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PubMed id 15563892)1, 2, 4, 9 Song L.... Hui R. (Clin. Chim. Acta 2005)
    3. Shared genetic causes of cardiac hypertrophy in children and adults. (PubMed id 18403758)1, 2, 4, 9 Morita H.... Seidman C.E. (N. Engl. J. Med. 2008)
    4. 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)1, 2, 4, 9 Alders M.... Mannens M. (Eur. Heart J. 2003)
    5. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. (PubMed id 7493026)1, 2, 4, 9 Bonne G.... Schwartz K. (Nat. Genet. 1995)
    6. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. (PubMed id 20215591)1, 2, 4, 9 Hershberger R.E....Gonzalez-Quintana J. (Circ Cardiovasc Genet 2010)
    7. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542)1, 2, 4, 9 Ingles J.... Semsarian C. (J. Med. Genet. 2005)
    8. Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? (PubMed id 7744002)1, 2, 3, 9 Gautel M.... Labeit S. (EMBO J. 1995)
    9. 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)1, 2, 9 Carrier L....Schwartz K. (Circ. Res. 1997)
    10. Spectrum of clinical phenotypes and gene variants in cardiac myosin- binding protein C mutation carriers with hypertrophic cardiomyopathy. (PubMed id 11499719)1, 2, 9 Erdmann J.... Regitz-Zagrosek V. (J. Am. Coll. Cardiol. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4607 HGNC: 7551 AceView: MYBPC3 Ensembl:ENSG00000134571 euGenes: HUgn4607
    ECgene: MYBPC3 Kegg: 4607 H-InvDB: MYBPC3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MYBPC3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MYBPC3[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/mybpc3/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYBPC3 gene:
    Search GeneIP for patents involving MYBPC3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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