Details for: MYOZ2

Gene ID: 51778

Symbol: MYOZ2

Ensembl ID: ENSG00000172399

Description: myozenin 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 11.8409
    Cell Significance Index: -11.3100
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 6.8498
    Cell Significance Index: 19.6300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 6.4637
    Cell Significance Index: 157.7100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 6.0612
    Cell Significance Index: 465.1300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 4.1034
    Cell Significance Index: 60.5800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.3955
    Cell Significance Index: 5.6800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.3159
    Cell Significance Index: 8.1200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0921
    Cell Significance Index: 18.4700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0841
    Cell Significance Index: 58.1400
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.0675
    Cell Significance Index: 1.0100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0589
    Cell Significance Index: 2.9800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0258
    Cell Significance Index: 11.7100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0123
    Cell Significance Index: 23.1700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0048
    Cell Significance Index: -8.9000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0055
    Cell Significance Index: -0.7000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0060
    Cell Significance Index: -9.1900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0065
    Cell Significance Index: -2.3400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0077
    Cell Significance Index: -10.4100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0113
    Cell Significance Index: -3.2500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0124
    Cell Significance Index: -7.8900
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0136
    Cell Significance Index: -0.2100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0147
    Cell Significance Index: -10.8000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0159
    Cell Significance Index: -11.7700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0182
    Cell Significance Index: -9.9200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0208
    Cell Significance Index: -0.9100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0216
    Cell Significance Index: -12.2000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0232
    Cell Significance Index: -3.3700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0302
    Cell Significance Index: -0.7500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0379
    Cell Significance Index: -1.0600
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0382
    Cell Significance Index: -0.5500
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0441
    Cell Significance Index: -0.5700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0560
    Cell Significance Index: -10.1000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0589
    Cell Significance Index: -8.0900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0616
    Cell Significance Index: -12.2200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0668
    Cell Significance Index: -11.4000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0763
    Cell Significance Index: -7.9400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0768
    Cell Significance Index: -2.0900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0788
    Cell Significance Index: -1.6500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0820
    Cell Significance Index: -1.6000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0838
    Cell Significance Index: -10.3100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0940
    Cell Significance Index: -12.1500
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.0966
    Cell Significance Index: -1.3600
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0978
    Cell Significance Index: -1.1900
  • Cell Name: paneth cell (CL0000510)
    Fold Change: -0.1005
    Cell Significance Index: -1.0400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1027
    Cell Significance Index: -11.7700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1092
    Cell Significance Index: -12.7300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1102
    Cell Significance Index: -11.2600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1175
    Cell Significance Index: -4.8200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1210
    Cell Significance Index: -2.9300
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1333
    Cell Significance Index: -3.3300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1369
    Cell Significance Index: -10.8400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1461
    Cell Significance Index: -1.6600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1518
    Cell Significance Index: -1.6500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1533
    Cell Significance Index: -8.0500
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.1556
    Cell Significance Index: -2.5100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1565
    Cell Significance Index: -8.7800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1573
    Cell Significance Index: -5.0100
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.1645
    Cell Significance Index: -2.3400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1711
    Cell Significance Index: -8.8900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1759
    Cell Significance Index: -8.2000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1876
    Cell Significance Index: -12.6200
  • Cell Name: ionocyte (CL0005006)
    Fold Change: -0.1884
    Cell Significance Index: -1.9700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1912
    Cell Significance Index: -6.2600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1984
    Cell Significance Index: -6.9500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2032
    Cell Significance Index: -12.4900
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.2035
    Cell Significance Index: -2.0000
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.2051
    Cell Significance Index: -1.9900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2071
    Cell Significance Index: -10.7900
  • Cell Name: plasmablast (CL0000980)
    Fold Change: -0.2217
    Cell Significance Index: -2.0600
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: -0.2242
    Cell Significance Index: -2.3700
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: -0.2252
    Cell Significance Index: -2.2500
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.2373
    Cell Significance Index: -3.2000
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.2378
    Cell Significance Index: -2.4000
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.2486
    Cell Significance Index: -3.0800
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: -0.2493
    Cell Significance Index: -1.9800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2519
    Cell Significance Index: -11.8400
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.2519
    Cell Significance Index: -2.8200
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: -0.2781
    Cell Significance Index: -1.9100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2890
    Cell Significance Index: -12.7900
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.2897
    Cell Significance Index: -7.3800
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.3053
    Cell Significance Index: -3.5900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3160
    Cell Significance Index: -6.7600
  • Cell Name: peridermal cell (CL0000078)
    Fold Change: -0.3207
    Cell Significance Index: -2.0000
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.3208
    Cell Significance Index: -1.6800
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.3244
    Cell Significance Index: -3.2100
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.3258
    Cell Significance Index: -2.3400
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.3318
    Cell Significance Index: -3.9100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.3322
    Cell Significance Index: -9.5700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.3357
    Cell Significance Index: -2.8200
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.3390
    Cell Significance Index: -1.9900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3407
    Cell Significance Index: -12.9000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3418
    Cell Significance Index: -8.5300
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.3428
    Cell Significance Index: -2.1000
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.3432
    Cell Significance Index: -4.7000
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.3466
    Cell Significance Index: -4.6200
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.3469
    Cell Significance Index: -3.9700
  • Cell Name: contractile cell (CL0000183)
    Fold Change: -0.3618
    Cell Significance Index: -0.7000
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.3620
    Cell Significance Index: -6.2400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3696
    Cell Significance Index: -10.8900
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.3749
    Cell Significance Index: -2.3200

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.

Other Information

**Key Characteristics** MYOZ2 is a large, cytoplasmic protein that interacts with various components of the actin cytoskeleton, including actin, tropomyosin, and troponin. Its binding to these proteins is crucial for maintaining sarcomere structure and function. Additionally, MYOZ2 has been shown to interact with other proteins, such as telethonin, which is essential for maintaining the structural integrity of sarcomeres. The protein's ability to bind to phosphatase 2B (PP2B) also suggests its involvement in signaling pathways that regulate muscle contraction and relaxation. **Pathways and Functions** MYOZ2 is involved in several key pathways, including: 1. **Actin binding and cytoskeleton organization**: MYOZ2's interaction with actin and other cytoskeletal proteins is essential for maintaining sarcomere structure and function. 2. **Negative regulation of calcineurin-NFAT signaling cascade**: MYOZ2 has been shown to inhibit the activity of calcineurin, a protein phosphatase that regulates the NFAT transcription factor, thereby modulating muscle contraction and relaxation. 3. **Negative regulation of transcription by RNA polymerase II**: MYOZ2's interaction with RNA polymerase II suggests its involvement in regulating gene expression in muscle cells. 4. **Sarcomere organization and skeletal muscle fiber adaptation**: MYOZ2's role in maintaining sarcomere structure and function is essential for regulating muscle contraction and relaxation. **Clinical Significance** Dysregulation of MYOZ2 has been implicated in various muscle disorders, including muscular dystrophy and cardiomyopathy. Mutations in the MYOZ2 gene have been associated with an increased risk of developing these conditions. Furthermore, MYOZ2's involvement in immune regulation suggests its potential role in autoimmune diseases, such as myasthenia gravis. In addition to its role in muscle cells, MYOZ2's expression in non-muscle cells, such as ciliated bronchial cells and neurons, highlights its potential involvement in other diseases, including respiratory and neurological disorders. In conclusion, MYOZ2 is a multifaceted protein with significant implications for our understanding of muscle and non-muscle cell biology. Further research is necessary to fully elucidate the mechanisms by which MYOZ2 regulates muscle contraction and relaxation, as well as its role in immune regulation and disease pathology.

Genular Protein ID: 2364269974

Symbol: MYOZ2_HUMAN

Name: Myozenin-2

UniProtKB Accession Codes:

Q9NPC6 O43415 Q9HB92

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 11 Ensembl 1 GO 12 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MalaCards 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 1 RNAct 1 RefSeq 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11161785

Title: Identification and characterization of a novel gene (C4orf5) located on human chromosome 4q with specific expression in cardiac and skeletal muscle.

PubMed ID: 11161785

DOI: 10.1006/geno.2000.6399

PubMed ID: 11114196

Title: Calsarcins, a novel family of sarcomeric calcineurin-binding proteins.

PubMed ID: 11114196

DOI: 10.1073/pnas.260501097

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

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: 16076904

Title: The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins.

PubMed ID: 16076904

DOI: 10.1242/jcs.02484

PubMed ID: 17347475

Title: Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.

PubMed ID: 17347475

DOI: 10.1161/01.res.0000263008.66799.aa

Sequence Information:

  • Length: 264
  • Mass: 29898
  • Checksum: 8636AEF79A6F8916
  • Sequence:
    • MLSHNTMMKQ RKQQATAIMK EVHGNDVDGM DLGKKVSIPR DIMLEELSHL SNRGARLFKM 
RQRRSDKYTF ENFQYQSRAQ INHSIAMQNG KVDGSNLEGG SQQAPLTPPN TPDPRSPPNP 
DNIAPGYSGP LKEIPPEKFN TTAVPKYYQS PWEQAISNDP ELLEALYPKL FKPEGKAELP 
DYRSFNRVAT PFGGFEKASR MVKFKVPDFE LLLLTDPRFM SFVNPLSGRR SFNRTPKGWI 
SENIPIVITT EPTDDTTVPE SEDL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.