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MYBPC3 (myosin binding protein C3)

Identity

Alias_namesCMH4
myosin-binding protein C, cardiac
Alias_symbol (synonym)MYBP-C
FHC
cMyBP-C
Other aliasCMD1MM
LVNC10
HGNC (Hugo) MYBPC3
LocusID (NCBI) 4607
Atlas_Id 51379
Location 11p11.2  [Link to chromosome band 11p11]
Location_base_pair Starts at 47331406 and ends at 47352702 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MYL3 (3p21.31) / MYBPC3 (11p11.2)

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

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)MYBPC3   7551
LRG (Locus Reference Genomic)LRG_386
Cards
Entrez_Gene (NCBI)MYBPC3  4607  myosin binding protein C3
AliasesCMD1MM; CMH4; FHC; LVNC10; 
MYBP-C; cMyBP-C
GeneCards (Weizmann)MYBPC3
Ensembl hg19 (Hinxton)ENSG00000134571 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134571 [Gene_View]  ENSG00000134571 [Sequence]  chr11:47331406-47352702 [Contig_View]  MYBPC3 [Vega]
ICGC DataPortalENSG00000134571
TCGA cBioPortalMYBPC3
AceView (NCBI)MYBPC3
Genatlas (Paris)MYBPC3
WikiGenes4607
SOURCE (Princeton)MYBPC3
Genetics Home Reference (NIH)MYBPC3
Genomic and cartography
GoldenPath hg38 (UCSC)MYBPC3  -     chr11:47331406-47352702 -  11p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYBPC3  -     11p11.2   [Description]    (hg19-Feb_2009)
GoldenPathMYBPC3 - 11p11.2 [CytoView hg19]  MYBPC3 - 11p11.2 [CytoView hg38]
ImmunoBaseENSG00000134571
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)
Consensus coding sequences : CCDS (NCBI)MYBPC3
Alternative Splicing GalleryENSG00000134571
Gene ExpressionMYBPC3 [ NCBI-GEO ]   MYBPC3 [ EBI - ARRAY_EXPRESS ]   MYBPC3 [ SEEK ]   MYBPC3 [ MEM ]
Gene Expression Viewer (FireBrowse)MYBPC3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4607
GTEX Portal (Tissue expression)MYBPC3
Human Protein AtlasENSG00000134571-MYBPC3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14896   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14896  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14896
Splice isoforms : SwissVarQ14896
PhosPhoSitePlusQ14896
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)FN3_dom    FN3_sf    Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    MyBP-C_THB   
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)    THB (PF18362)   
Domain families : Pfam (NCBI)pfam00041    pfam07679    pfam18362   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)MYBPC3
DMDM Disease mutations4607
Blocks (Seattle)MYBPC3
PDB (RSDB)1GXE    1PD6    2AVG    2K1M    2MQ0    2MQ3    2V6H    3CX2    5K6P    6CXI    6CXJ    6G2T   
PDB Europe1GXE    1PD6    2AVG    2K1M    2MQ0    2MQ3    2V6H    3CX2    5K6P    6CXI    6CXJ    6G2T   
PDB (PDBSum)1GXE    1PD6    2AVG    2K1M    2MQ0    2MQ3    2V6H    3CX2    5K6P    6CXI    6CXJ    6G2T   
PDB (IMB)1GXE    1PD6    2AVG    2K1M    2MQ0    2MQ3    2V6H    3CX2    5K6P    6CXI    6CXJ    6G2T   
Structural Biology KnowledgeBase1GXE    1PD6    2AVG    2K1M    2MQ0    2MQ3    2V6H    3CX2    5K6P    6CXI    6CXJ    6G2T   
SCOP (Structural Classification of Proteins)1GXE    1PD6    2AVG    2K1M    2MQ0    2MQ3    2V6H    3CX2    5K6P    6CXI    6CXJ    6G2T   
CATH (Classification of proteins structures)1GXE    1PD6    2AVG    2K1M    2MQ0    2MQ3    2V6H    3CX2    5K6P    6CXI    6CXJ    6G2T   
SuperfamilyQ14896
Human Protein Atlas [tissue]ENSG00000134571-MYBPC3 [tissue]
Peptide AtlasQ14896
HPRD02980
IPIIPI00798035   IPI00816086   IPI00292412   
Protein Interaction databases
DIP (DOE-UCLA)Q14896
IntAct (EBI)Q14896
FunCoupENSG00000134571
BioGRIDMYBPC3
STRING (EMBL)MYBPC3
ZODIACMYBPC3
Ontologies - Pathways
QuickGOQ14896
Ontology : AmiGOATPase activator activity  heart morphogenesis  actin binding  protein 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  titin binding  A band  myosin heavy chain binding  myosin heavy chain binding  positive regulation of ATPase activity  regulation of muscle filament sliding  identical protein binding  metal ion binding  ventricular cardiac muscle tissue morphogenesis  cardiac muscle contraction  cardiac myofibril  
Ontology : EGO-EBIATPase activator activity  heart morphogenesis  actin binding  protein 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  titin binding  A band  myosin heavy chain binding  myosin heavy chain binding  positive regulation of ATPase activity  regulation of muscle filament sliding  identical protein binding  metal ion binding  ventricular cardiac muscle tissue morphogenesis  cardiac muscle contraction  cardiac myofibril  
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
NDEx NetworkMYBPC3
Atlas of Cancer Signalling NetworkMYBPC3
Wikipedia pathwaysMYBPC3
Orthology - Evolution
OrthoDB4607
GeneTree (enSembl)ENSG00000134571
Phylogenetic Trees/Animal Genes : TreeFamMYBPC3
HOGENOMQ14896
Homologs : HomoloGeneMYBPC3
Homology/Alignments : Family Browser (UCSC)MYBPC3
Gene fusions - Rearrangements
Fusion : QuiverMYBPC3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYBPC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYBPC3
dbVarMYBPC3
ClinVarMYBPC3
1000_GenomesMYBPC3 
Exome Variant ServerMYBPC3
ExAC (Exome Aggregation Consortium)ENSG00000134571
GNOMAD BrowserENSG00000134571
Varsome BrowserMYBPC3
Genetic variants : HAPMAP4607
Genomic Variants (DGV)MYBPC3 [DGVbeta]
DECIPHERMYBPC3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYBPC3 
Mutations
ICGC Data PortalMYBPC3 
TCGA Data PortalMYBPC3 
Broad Tumor PortalMYBPC3
OASIS PortalMYBPC3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYBPC3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMYBPC3
Mutations and Diseases : HGMDMYBPC3
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
BioMutasearch MYBPC3
DgiDB (Drug Gene Interaction Database)MYBPC3
DoCM (Curated mutations)MYBPC3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYBPC3 (select a term)
intoGenMYBPC3
Cancer3DMYBPC3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM115197    600958    615396   
Orphanet635    10750   
DisGeNETMYBPC3
MedgenMYBPC3
Genetic Testing Registry MYBPC3
NextProtQ14896 [Medical]
TSGene4607
GENETestsMYBPC3
Target ValidationMYBPC3
Huge Navigator MYBPC3 [HugePedia]
snp3D : Map Gene to Disease4607
BioCentury BCIQMYBPC3
ClinGenMYBPC3 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4607
Chemical/Pharm GKB GenePA31351
Clinical trialMYBPC3
Miscellaneous
canSAR (ICR)MYBPC3 (select the gene name)
HarmonizomeMYBPC3
DataMed IndexMYBPC3
Probes
Litterature
PubMed225 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYBPC3
EVEXMYBPC3
GoPubMedMYBPC3
iHOPMYBPC3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun May 10 12:24:55 CEST 2020
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