Details for: MYBPC2

Gene ID: 4606

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: MYBPC2

Ensembl ID: ENSG00000086967

Description: myosin binding protein C2

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • fast muscle cell CL0000190
    CSI 3.55
    rCSI 13.88%
    PRS 99.44

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [MYBPC2](/details-gene/4606) encodes the fast-type isoform of myosin-binding protein C, a key structural and regulatory component of the sarcomere in skeletal muscle. As a thick filament-associated protein, it plays a crucial role in the organization of the sarcomere and the modulation of muscle contraction. Expression data indicate that [MYBPC2](/details-gene/4606) is a highly specific marker for [fast muscle cells](/details-cell/CL0000190), where it is essential for the proper function of fast-twitch muscle fibers. Its function is primarily linked to binding both actin and myosin filaments, thereby regulating the cyclical interaction that drives muscle contraction. ## Cellular Roles and Expression Landscape The expression profile of [MYBPC2](/details-gene/4606) demonstrates a highly specialized role within the musculoskeletal system. - **Context:** **Overall** - The gene exhibits its most significant expression and defining role in [fast muscle cells](/details-cell/CL0000190) (CSI: 3.55). This high degree of specificity suggests that [MYBPC2](/details-gene/4606) is not merely active in this cell type but is a fundamental component defining its identity and function. - As described in early characterization studies, the expression of [MYBPC2](/details-gene/4606) is tightly restricted to fast-twitch muscle fibers, distinguishing it from other isoforms like MYBPC1 (slow-type) and MYBPC3 (cardiac-type) [[Link](https://doi.org/10.1111/j.1432-1033.1993.tb18186.x)]. This cellular specificity is consistent with its function in mediating the rapid and powerful contractions characteristic of fast muscle. - The absence of significant expression in other cell types implies that its function is exclusively tied to the unique contractile apparatus of striated muscle. ## Pathways and Molecular Function The molecular functions and pathway associations of [MYBPC2](/details-gene/4606) are intrinsically linked to its role as a core component of the muscle contractile machinery. - **Biological Processes & Pathways:** The gene is a central participant in [Muscle contraction](/details-pathway/R-HSA-397014) and specifically [Striated muscle contraction](/details-pathway/R-HSA-390522). Its role extends to the fundamental process of [Sarcomere organization](/details-go/GO:0045214), where it contributes to the structural integrity and arrangement of contractile units. - **Molecular Function:** [MYBPC2](/details-gene/4606) functions as a [Structural constituent of muscle](/details-go/GO:0008307), with key binding activities. It exhibits both [Actin binding](/details-go/GO:0003779) and [Protein binding](/details-go/GO:0005515) capabilities, allowing it to interact with both thin (actin) and thick (myosin) filaments. This dual interaction is thought to act as a molecular brake, modulating the rate and force of contraction. - **Cellular Localization:** Consistent with its function, the protein is localized to critical regions within the sarcomere, including the [M band](/details-go/GO:0031430) and the broader [Myosin filament](/details-go/GO:0032982), positioning it perfectly to influence the mechanics of the myosin motor. It is also found in the [Cytosol](/details-go/GO:0005829) prior to its incorporation into the myofilament lattice. ## Research Directions While mutations in the cardiac-specific isoform MYBPC3 are a well-established cause of hypertrophic cardiomyopathy, the clinical relevance of [MYBPC2](/details-gene/4606) in skeletal muscle disorders remains less defined, presenting several avenues for future investigation. **Testable Hypotheses:** 1. Mutations or dysregulation of [MYBPC2](/details-gene/4606) contribute to the pathology of specific inherited myopathies characterized by dysfunction of fast-twitch muscle fibers, such as certain forms of distal myopathy or congenital fiber-type disproportion. 2. [MYBPC2](/details-gene/4606) phosphorylation state is a key regulatory mechanism that fine-tunes the kinetics of fast-twitch muscle contraction and relaxation in response to physiological stimuli, and its disruption could underlie muscle fatigue or weakness. **Proposed Experiment:** To test the hypothesis that [MYBPC2](/details-gene/4606) phosphorylation regulates contraction kinetics, a compelling experiment would be to generate a knock-in mouse model with mutations at key predicted phosphorylation sites within the *Mybpc2* gene, rendering them non-phosphorylatable. Skeletal muscles (e.g., extensor digitorum longus, a fast-twitch muscle) from these mice could be isolated and subjected to *ex vivo* mechanical testing. By measuring parameters such as time to peak tension, relaxation rate, and force-frequency relationship, one could directly assess whether the loss of phosphorylation alters the contractile properties compared to wild-type controls. This would provide direct evidence for its regulatory role. **Therapeutic Potential:** Given its high specificity for fast-twitch skeletal muscle, [MYBPC2](/details-gene/4606) presents an attractive target for therapies aimed at muscle-specific diseases. However, as a core structural protein, it is less amenable to traditional small-molecule inhibition. Instead, its therapeutic potential likely lies in the realm of gene therapy. For loss-of-function myopathies caused by [MYBPC2](/details-gene/4606) deficiency, AAV-mediated gene replacement therapy could restore protein expression specifically in affected muscle tissue, minimizing off-target effects. Such a strategy would be one of activation or supplementation rather than inhibition.

Genular Protein ID: 422733368

Symbol: MYPC2_HUMAN

Name: Myosin-binding protein C, fast-type

UniProtKB Accession Codes:

Q14324 A1L4G9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 4 CTD 1 CarbonylDB 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 6 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 1 RefSeq 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8375400

Title: Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment.

PubMed ID: 8375400

DOI: 10.1111/j.1432-1033.1993.tb18186.x

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 1141
  • Mass: 128072
  • Checksum: 91F4B18C4367743A
  • Sequence:
    • MPEAKPAAKK APKGKDAPKG APKEAPPKEA PAEAPKEAPP EDQSPTAEEP TGVFLKKPDS 
VSVETGKDAV VVAKVNGKEL PDKPTIKWFK GKWLELGSKS GARFSFKESH NSASNVYTVE 
LHIGKVVLGD RGYYRLEVKA KDTCDSCGFN IDVEAPRQDA SGQSLESFKR TSEKKSDTAG 
ELDFSGLLKK REVVEEEKKK KKKDDDDLGI PPEIWELLKG AKKSEYEKIA FQYGITDLRG 
MLKRLKKAKV EVKKSAAFTK KLDPAYQVDR GNKIKLMVEI SDPDLTLKWF KNGQEIKPSS 
KYVFENVGKK RILTINKCTL ADDAAYEVAV KDEKCFTELF VKEPPVLIVT PLEDQQVFVG 
DRVEMAVEVS EEGAQVMWMK DGVELTREDS FKARYRFKKD GKRHILIFSD VVQEDRGRYQ 
VITNGGQCEA ELIVEEKQLE VLQDIADLTV KASEQAVFKC EVSDEKVTGK WYKNGVEVRP 
SKRITISHVG RFHKLVIDDV RPEDEGDYTF VPDGYALSLS AKLNFLEIKV EYVPKQEPPK 
IHLDCSGKTS ENAIVVVAGN KLRLDVSITG EPPPVATWLK GDEVFTTTEG RTRIEKRVDC 
SSFVIESAQR EDEGRYTIKV TNPVGEDVAS IFLQVVDVPD PPEAVRITSV GEDWAILVWE 
PPMYDGGKPV TGYLVERKKK GSQRWMKLNF EVFTETTYES TKMIEGILYE MRVFAVNAIG 
VSQPSMNTKP FMPIAPTSEP LHLIVEDVTD TTTTLKWRPP NRIGAGGIDG YLVEYCLEGS 
EEWVPANTEP VERCGFTVKN LPTGARILFR VVGVNIAGRS EPATLAQPVT IREIAEPPKI 
RLPRHLRQTY IRKVGEQLNL VVPFQGKPRP QVVWTKGGAP LDTSRVHVRT SDFDTVFFVR 
QAARSDSGEY ELSVQIENMK DTATIRIRVV EKAGPPINVM VKEVWGTNAL VEWQAPKDDG 
NSEIMGYFVQ KADKKTMEWF NVYERNRHTS CTVSDLIVGN EYYFRVYTEN ICGLSDSPGV 
SKNTARILKT GITFKPFEYK EHDFRMAPKF LTPLIDRVVV AGYSAALNCA VRGHPKPKVV 
WMKNKMEIRE DPKFLITNYQ GVLTLNIRRP SPFDAGTYTC RAVNELGEAL AECKLEVRVP 
Q