Human Gene MYBPC2 (ENST00000357701.6_4) from GENCODE V47lift37
  Description: myosin binding protein C2 (from RefSeq NM_004533.4)
Gencode Transcript: ENST00000357701.6_4
Gencode Gene: ENSG00000086967.10_7
Transcript (Including UTRs)
   Position: hg19 chr19:50,936,149-50,969,578 Size: 33,430 Total Exon Count: 28 Strand: +
Coding Region
   Position: hg19 chr19:50,936,211-50,969,462 Size: 33,252 Coding Exon Count: 28 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:50,936,149-50,969,578)mRNA (may differ from genome)Protein (1141 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYPC2_HUMAN
DESCRIPTION: RecName: Full=Myosin-binding protein C, fast-type; Short=Fast MyBP-C; AltName: Full=C-protein, skeletal muscle fast isoform;
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.
INTERACTION: Q00872:MYBPC1; NbExp=3; IntAct=EBI-5653200, EBI-5652924; Q8WZ42:TTN; NbExp=14; IntAct=EBI-5653200, EBI-681210;
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.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MYBPC2
Diseases sorted by gene-association score: cardiomyopathy, hypertrophic, 4 (9), distal arthrogryposis (7), intrinsic cardiomyopathy (5), cardiomyopathy, familial hypertrophic (2), dilated cardiomyopathy (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 437.60 RPKM in Muscle - Skeletal
Total median expression: 445.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.2062-0.358 Picture PostScript Text
3' UTR -32.10116-0.277 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003961 - Fibronectin_type3
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2

Pfam Domains:
PF00041 - Fibronectin type III domain
PF00047 - Immunoglobulin domain
PF07679 - Immunoglobulin I-set domain
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain
PF18362 - Tri-helix bundle domain

SCOP Domains:
48726 - Immunoglobulin
49265 - Fibronectin type III

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2E7C - NMR MuPIT 2EDK - NMR MuPIT 2EDN - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q14324
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0008307 structural constituent of muscle
GO:0051015 actin filament binding
GO:0051371 muscle alpha-actinin binding
GO:0097493 structural molecule activity conferring elasticity

Biological Process:
GO:0006936 muscle contraction
GO:0006941 striated muscle contraction
GO:0007015 actin filament organization
GO:0007155 cell adhesion
GO:0030049 muscle filament sliding
GO:0045214 sarcomere organization
GO:0071688 striated muscle myosin thick filament assembly

Cellular Component:
GO:0005829 cytosol
GO:0005859 muscle myosin complex
GO:0030018 Z disc
GO:0031430 M band
GO:0032982 myosin filament


-  Descriptions from all associated GenBank mRNAs
  BC094690 - Homo sapiens cDNA clone IMAGE:30529503, **** WARNING: chimeric clone ****.
HM005439 - Homo sapiens clone HTL-T-126 testicular tissue protein Li 126 mRNA, complete cds.
BC130536 - Homo sapiens myosin binding protein C, fast type, mRNA (cDNA clone MGC:163408 IMAGE:40146567), complete cds.
BC136389 - Homo sapiens myosin binding protein C, fast type, mRNA (cDNA clone MGC:167999 IMAGE:9020376), complete cds.
X73113 - H.sapiens mRNA for fast MyBP-C.
HQ258536 - Synthetic construct Homo sapiens clone IMAGE:100072965 myosin binding protein C, fast type (MYBPC2) gene, encodes complete protein.
JD139258 - Sequence 120282 from Patent EP1572962.
JD161281 - Sequence 142305 from Patent EP1572962.
JD254576 - Sequence 235600 from Patent EP1572962.
JD133862 - Sequence 114886 from Patent EP1572962.
JD095268 - Sequence 76292 from Patent EP1572962.
JD167134 - Sequence 148158 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q14324 (Reactome details) participates in the following event(s):

R-HSA-390595 Calcium Binds Troponin-C
R-HSA-390597 Release Of ADP From Myosin
R-HSA-390593 ATP Hydrolysis By Myosin
R-HSA-390598 Myosin Binds ATP
R-HSA-390522 Striated Muscle Contraction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: A1L4G9, ENST00000357701.1, ENST00000357701.2, ENST00000357701.3, ENST00000357701.4, ENST00000357701.5, MYBPCF, MYPC2_HUMAN, NM_004533, Q14324, uc318aek.1, uc318aek.2
UCSC ID: ENST00000357701.6_4
RefSeq Accession: NM_004533.4
Protein: Q14324 (aka MYPC2_HUMAN or MYPF_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.