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MYBPC3 (myosin binding protein C, cardiac)

Identity

Other namesCMD1MM
CMH4
FHC
LVNC10
MYBP-C
HGNC (Hugo) MYBPC3
LocusID (NCBI) 4607
Location 11p11.2
Location_base_pair Starts at 47352957 and ends at 47374253 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)MYBPC3   7551
Cards
Entrez_Gene (NCBI)MYBPC3  4607  myosin binding protein C, cardiac
GeneCards (Weizmann)MYBPC3
Ensembl hg19 (Hinxton)ENSG00000134571 [Gene_View]  chr11:47352957-47374253 [Contig_View]  MYBPC3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000134571 [Gene_View]  chr11:47352957-47374253 [Contig_View]  MYBPC3 [Vega]
ICGC DataPortalENSG00000134571
cBioPortalMYBPC3
AceView (NCBI)MYBPC3
Genatlas (Paris)MYBPC3
WikiGenes4607
SOURCE (Princeton)MYBPC3
Genomic and cartography
GoldenPath hg19 (UCSC)MYBPC3  -     chr11:47352957-47374253 -  11p11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MYBPC3  -     11p11.2   [Description]    (hg38-Dec_2013)
EnsemblMYBPC3 - 11p11.2 [CytoView hg19]  MYBPC3 - 11p11.2 [CytoView hg38]
Mapping of homologs : NCBIMYBPC3 [Mapview hg19]  MYBPC3 [Mapview hg38]
OMIM115197   600958   615396   
Gene and transcription
Genbank (Entrez)AJ708511 AJ708699 AK291569 AK297843 AL691822
RefSeq transcript (Entrez)NM_000256
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_007667 NT_009237 NW_001838022 NW_004929378
Consensus coding sequences : CCDS (NCBI)MYBPC3
Cluster EST : UnigeneHs.524906 [ NCBI ]
CGAP (NCI)Hs.524906
Alternative Splicing : Fast-db (Paris)GSHG0005737
Alternative Splicing GalleryENSG00000134571
Gene ExpressionMYBPC3 [ NCBI-GEO ]     MYBPC3 [ SEEK ]   MYBPC3 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14896 (Uniprot)
NextProtQ14896  [Medical]
With graphics : InterProQ14896
Splice isoforms : SwissVarQ14896 (Swissvar)
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)Fibronectin_type3    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2   
Related proteins : CluSTrQ14896
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)   
Domain families : Pfam (NCBI)pfam00041    pfam07679   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  
DMDM Disease mutations4607
Blocks (Seattle)Q14896
PDB (SRS)1GXE    1PD6    2AVG    2K1M    2V6H    3CX2   
PDB (PDBSum)1GXE    1PD6    2AVG    2K1M    2V6H    3CX2   
PDB (IMB)1GXE    1PD6    2AVG    2K1M    2V6H    3CX2   
PDB (RSDB)1GXE    1PD6    2AVG    2K1M    2V6H    3CX2   
Human Protein AtlasENSG00000134571
Peptide AtlasQ14896
HPRD02980
IPIIPI00798035   IPI00816086   IPI00292412   
Protein Interaction databases
DIP (DOE-UCLA)Q14896
IntAct (EBI)Q14896
FunCoupENSG00000134571
BioGRIDMYBPC3
IntegromeDBMYBPC3
STRING (EMBL)MYBPC3
Ontologies - Pathways
QuickGOQ14896
Ontology : AmiGOATPase activator activity  regulation of heart rate  heart morphogenesis  actin binding  cytosol  striated muscle myosin thick filament  striated muscle myosin thick filament  regulation of striated muscle contraction  cell adhesion  structural constituent of muscle  C zone  myosin binding  sarcomere  muscle filament sliding  myosin filament assembly  titin binding  A band  myosin heavy chain binding  positive regulation of ATPase activity  regulation of muscle filament sliding  identical protein binding  sarcomere organization  metal ion binding  ventricular cardiac muscle tissue morphogenesis  cardiac muscle contraction  
Ontology : EGO-EBIATPase activator activity  regulation of heart rate  heart morphogenesis  actin binding  cytosol  striated muscle myosin thick filament  striated muscle myosin thick filament  regulation of striated muscle contraction  cell adhesion  structural constituent of muscle  C zone  myosin binding  sarcomere  muscle filament sliding  myosin filament assembly  titin binding  A band  myosin heavy chain binding  positive regulation of ATPase activity  regulation of muscle filament sliding  identical protein binding  sarcomere organization  metal ion binding  ventricular cardiac muscle tissue morphogenesis  cardiac muscle contraction  
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
Protein Interaction DatabaseMYBPC3
DoCM (Curated mutations)MYBPC3
Wikipedia pathwaysMYBPC3
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMYBPC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYBPC3
dbVarMYBPC3
ClinVarMYBPC3
1000_GenomesMYBPC3 
Exome Variant ServerMYBPC3
SNP (GeneSNP Utah)MYBPC3
SNP : HGBaseMYBPC3
Genetic variants : HAPMAPMYBPC3
Genomic VariantsMYBPC3  MYBPC3 [DGVbeta]
Mutations
ICGC Data PortalENSG00000134571 
Somatic Mutations in Cancer : COSMICMYBPC3 
CONAN: Copy Number AnalysisMYBPC3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:47352957-47374253
Mutations and Diseases : HGMDMYBPC3
OMIM115197    600958    615396   
MedgenMYBPC3
NextProtQ14896 [Medical]
GENETestsMYBPC3
Disease Genetic AssociationMYBPC3
Huge Navigator MYBPC3 [HugePedia]  MYBPC3 [HugeCancerGEM]
snp3D : Map Gene to Disease4607
DGIdb (Drug Gene Interaction db)MYBPC3
General knowledge
Homologs : HomoloGeneMYBPC3
Homology/Alignments : Family Browser (UCSC)MYBPC3
Phylogenetic Trees/Animal Genes : TreeFamMYBPC3
Chemical/Protein Interactions : CTD4607
Chemical/Pharm GKB GenePA31351
Clinical trialMYBPC3
Cancer Resource (Charite)ENSG00000134571
Other databases
Probes
Litterature
PubMed158 Pubmed reference(s) in Entrez
CoreMineMYBPC3
GoPubMedMYBPC3
iHOPMYBPC3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:21:39 CET 2014
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