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MYBPC2 (myosin binding protein C2)

Identity

Alias (NCBI)MYBPC
MYBPCF
fsMyBP-C
HGNC (Hugo) MYBPC2
HGNC Alias symbMYBPCF
MYBPC
MGC163408
HGNC Alias namefast-type muscle myosin-binding-protein C
HGNC Previous namemyosin-binding protein C, fast-type
LocusID (NCBI) 4606
Atlas_Id 70598
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 50432903 and ends at 50466326 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)
MYBPC2 (19q13.33) / MYBPC2 (19q13.33)MYBPC2 (19q13.33) / PTGDS (9q34.3)

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)MYBPC2   7550
Cards
Entrez_Gene (NCBI)MYBPC2    myosin binding protein C2
AliasesMYBPC; MYBPCF; fsMyBP-C
GeneCards (Weizmann)MYBPC2
Ensembl hg19 (Hinxton)ENSG00000086967 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000086967 [Gene_View]  ENSG00000086967 [Sequence]  chr19:50432903-50466326 [Contig_View]  MYBPC2 [Vega]
ICGC DataPortalENSG00000086967
TCGA cBioPortalMYBPC2
AceView (NCBI)MYBPC2
Genatlas (Paris)MYBPC2
SOURCE (Princeton)MYBPC2
Genetics Home Reference (NIH)MYBPC2
Genomic and cartography
GoldenPath hg38 (UCSC)MYBPC2  -     chr19:50432903-50466326 +  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYBPC2  -     19q13.33   [Description]    (hg19-Feb_2009)
GoldenPathMYBPC2 - 19q13.33 [CytoView hg19]  MYBPC2 - 19q13.33 [CytoView hg38]
ImmunoBaseENSG00000086967
genome Data Viewer NCBIMYBPC2 [Mapview hg19]  
OMIM160793   
Gene and transcription
Genbank (Entrez)AA086285 BC130536 BC136389 CF552888 CF553029
RefSeq transcript (Entrez)NM_004533
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYBPC2
Alternative Splicing GalleryENSG00000086967
Gene ExpressionMYBPC2 [ NCBI-GEO ]   MYBPC2 [ EBI - ARRAY_EXPRESS ]   MYBPC2 [ SEEK ]   MYBPC2 [ MEM ]
Gene Expression Viewer (FireBrowse)MYBPC2 [ Firebrowse - Broad ]
GenevisibleExpression of MYBPC2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4606
GTEX Portal (Tissue expression)MYBPC2
Human Protein AtlasENSG00000086967-MYBPC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14324   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14324  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14324
Splice isoforms : SwissVarQ14324
PhosPhoSitePlusQ14324
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)MYBPC2
Blocks (Seattle)MYBPC2
PDB (RSDB)2E7C    2EDK    2EDN   
PDB Europe2E7C    2EDK    2EDN   
PDB (PDBSum)2E7C    2EDK    2EDN   
PDB (IMB)2E7C    2EDK    2EDN   
Structural Biology KnowledgeBase2E7C    2EDK    2EDN   
SCOP (Structural Classification of Proteins)2E7C    2EDK    2EDN   
CATH (Classification of proteins structures)2E7C    2EDK    2EDN   
SuperfamilyQ14324
Human Protein Atlas [tissue]ENSG00000086967-MYBPC2 [tissue]
Peptide AtlasQ14324
HPRD01184
IPIIPI00030104   
Protein Interaction databases
DIP (DOE-UCLA)Q14324
IntAct (EBI)Q14324
BioGRIDMYBPC2
STRING (EMBL)MYBPC2
ZODIACMYBPC2
Ontologies - Pathways
QuickGOQ14324
Ontology : AmiGOactin binding  protein binding  cytosol  cell adhesion  structural constituent of muscle  muscle filament sliding  myosin filament  
Ontology : EGO-EBIactin binding  protein binding  cytosol  cell adhesion  structural constituent of muscle  muscle filament sliding  myosin filament  
NDEx NetworkMYBPC2
Atlas of Cancer Signalling NetworkMYBPC2
Wikipedia pathwaysMYBPC2
Orthology - Evolution
OrthoDB4606
GeneTree (enSembl)ENSG00000086967
Phylogenetic Trees/Animal Genes : TreeFamMYBPC2
HOGENOMQ14324
Homologs : HomoloGeneMYBPC2
Homology/Alignments : Family Browser (UCSC)MYBPC2
Gene fusions - Rearrangements
Fusion : QuiverMYBPC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYBPC2 [hg38]
dbVarMYBPC2
ClinVarMYBPC2
MonarchMYBPC2
1000_GenomesMYBPC2 
Exome Variant ServerMYBPC2
GNOMAD BrowserENSG00000086967
Varsome BrowserMYBPC2
Genomic Variants (DGV)MYBPC2 [DGVbeta]
DECIPHERMYBPC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYBPC2 
Mutations
ICGC Data PortalMYBPC2 
TCGA Data PortalMYBPC2 
Broad Tumor PortalMYBPC2
OASIS PortalMYBPC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYBPC2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMYBPC2
Mutations and Diseases : HGMDMYBPC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MYBPC2
DgiDB (Drug Gene Interaction Database)MYBPC2
DoCM (Curated mutations)MYBPC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYBPC2 (select a term)
intoGenMYBPC2
Cancer3DMYBPC2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160793   
Orphanet
DisGeNETMYBPC2
MedgenMYBPC2
Genetic Testing Registry MYBPC2
NextProtQ14324 [Medical]
GENETestsMYBPC2
Target ValidationMYBPC2
Huge Navigator MYBPC2 [HugePedia]
ClinGenMYBPC2
Clinical trials, drugs, therapy
MyCancerGenomeMYBPC2
Protein Interactions : CTD
Pharm GKB GenePA31350
Clinical trialMYBPC2
Miscellaneous
canSAR (ICR)MYBPC2 (select the gene name)
HarmonizomeMYBPC2
DataMed IndexMYBPC2
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYBPC2
EVEXMYBPC2
GoPubMedMYBPC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 17:18:27 CET 2020

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