Details for: MYOZ3

Gene ID: 91977

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: MYOZ3

Ensembl ID: ENSG00000164591

Description: myozenin 3

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • glutamatergic neuron CL0000679
    CSI 7.16
    rCSI 14.71%
    PRS 99.44
  • chondrocyte CL0000138
    CSI 6.3
    rCSI 10.02%
    PRS 99.87
  • neural progenitor cell CL0011020
    CSI 5.6
    rCSI 24.64%
    PRS 98.83
  • GABAergic neuron CL0000617
    CSI 5.59
    rCSI 18.74%
    PRS 99.38

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 [MYOZ3](/details-gene/91977), also known as myozenin 3 or calsarcin-3, encodes a protein that is a well-characterized component of the sarcomere's Z-disc in skeletal muscle. Based on its molecular interactions, it functions as a scaffolding protein that binds actin and other Z-disc components, contributing to the structural integrity and organization of the muscle contractile apparatus ([Link](https://pubmed.ncbi.nlm.nih.gov/11842093/)). While its role in muscle is established, expression data also suggest a significant, though less understood, presence in non-muscle cells, particularly within neuronal lineages such as [glutamatergic neurons](/details-cell/CL0000679) and in structural cells like [chondrocytes](/details-cell/CL0000138), pointing towards broader functions in cytoskeletal organization. ## Cellular Roles and Expression Landscape The established function of [MYOZ3](/details-gene/91977) is highly specific to muscle tissue, where it is an integral part of the Z-disc, the boundary between adjacent sarcomeres. Literature describes it as a skeletal muscle-specific protein that interacts with key structural proteins to maintain sarcomeric stability during muscle contraction ([Link](https://pubmed.ncbi.nlm.nih.gov/11842093/)). However, a broad expression analysis highlights a different landscape. **Overall**, the highest cellular significance for [MYOZ3](/details-gene/91977) is observed in non-muscle cell types. The most prominent expression is found in [glutamatergic neuron](/details-cell/CL0000679) (CSI: 7.16), followed by [chondrocyte](/details-cell/CL0000138) (CSI: 6.30). Significant expression is also noted in [neural progenitor cell](/details-cell/CL0011020) (CSI: 5.60) and [GABAergic neuron](/details-cell/CL0000617) (CSI: 5.59). This pattern suggests that [MYOZ3](/details-gene/91977) may have important, non-canonical roles related to cytoskeletal architecture and function within the central nervous system and in cartilage tissue. ## Pathways and Molecular Function Functionally, [MYOZ3](/details-gene/91977) is localized to the [Z disc](/details-go/GO:0030018) and is a component of the [actin cytoskeleton](/details-go/GO:0015629). Its primary molecular activities revolve around its ability to act as a structural scaffold through [protein binding](/details-go/GO:0005515). Specifically, it engages in [actin binding](/details-go/GO:0003779), as well as binding to other Z-disc proteins such as Fatz ([Fatz binding](/details-go/GO:0051373)) and titin-cap ([telethonin binding](/details-go/GO:0031433)). These interactions are critical for cross-linking actin filaments and anchoring them to the Z-disc, ensuring the proper alignment and function of the sarcomere. The presence of [MYOZ3](/details-gene/91977) in neurons and chondrocytes suggests these fundamental binding capabilities may be repurposed to organize cytoskeletal structures in non-sarcomeric contexts, such as at synaptic junctions or within the chondrocyte's cellular cortex. ## Research Directions The most compelling area for future research is the reconciliation of the well-documented muscle-specific role of [MYOZ3](/details-gene/91977) with the expression data indicating high significance in neuronal and chondrocytic lineages. This discrepancy suggests either previously uncharacterized functions or specific splice variants with distinct cellular roles. **Testable Hypotheses:** 1. [MYOZ3](/details-gene/91977) functions as a cytoskeletal organizing protein in [glutamatergic neurons](/details-cell/CL0000679), localizing to dendritic spines or the axon initial segment to provide structural support and anchor actin filaments, thereby modulating synaptic plasticity. 2. In [chondrocytes](/details-cell/CL0000138), [MYOZ3](/details-gene/91977) plays a role in mechanotransduction by linking the internal [actin cytoskeleton](/details-go/GO:0015629) to cell-matrix adhesions, helping the cell sense and respond to mechanical stress within the cartilage matrix. **Proposed Experimental Approach:** To test the hypothesis of a neuronal function for [MYOZ3](/details-gene/91977), a combination of high-resolution imaging and functional genomics could be employed. Initially, super-resolution microscopy and immunofluorescence co-staining in primary cultured [glutamatergic neurons](/details-cell/CL0000679) would be used to determine the precise subcellular localization of the MYOZ3 protein, for example, relative to synaptic markers like PSD-95 or actin-rich growth cones. Subsequently, CRISPR-Cas9-mediated knockout or shRNA knockdown of [MYOZ3](/details-gene/91977) could be performed in these neuronal cultures. The functional consequences could then be assessed by quantifying changes in neurite outgrowth, dendritic spine morphology, and synaptic density. **Therapeutic Potential:** The therapeutic potential of [MYOZ3](/details-gene/91977) is currently speculative. As a structural protein, it is not a conventional drug target like an enzyme or receptor. However, if its dysregulation is linked to cytoskeletal defects in neurodegenerative diseases or chondropathies, it could serve as a valuable biomarker. Furthermore, if specific isoforms are found to be exclusively expressed in pathological states, they could potentially be targeted, for instance with antisense oligonucleotides. Any therapeutic strategy would need to be highly specific to avoid disrupting its essential structural role in skeletal muscle.

Genular Protein ID: 2781308828

Symbol: MYOZ3_HUMAN

Name: Myozenin-3

UniProtKB Accession Codes:

Q8TDC0 B2R9Q4 D3DQG9 Q8IVM1 Q8IVN1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 12 Ensembl 3 ExpressionAtlas 1 GO 5 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 2 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11842093

Title: Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins.

PubMed ID: 11842093

DOI: 10.1074/jbc.m200712200

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

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: 251
  • Mass: 27157
  • Checksum: AF1C09E49CD31D94
  • Sequence:
    • MIPKEQKGPV MAAMGDLTEP VPTLDLGKKL SVPQDLMMEE LSLRNNRGSL LFQKRQRRVQ 
KFTFELAASQ RAMLAGSARR KVTGTAESGT VANANGPEGP NYRSELHIFP ASPGASLGGP 
EGAHPAAAPA GCVPSPSALA PGYAEPLKGV PPEKFNHTAI SKGYRCPWQE FVSYRDYQSD 
GRSHTPSPND YRNFNKTPVP FGGPLVGGTF PRPGTPFIPE PLSGLELLRL RPSFNRVAQG 
WVRNLPESEE L