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Aliases for MYOZ2 Gene

Aliases for MYOZ2 Gene

  • Myozenin 2 2 3 5
  • FATZ-Related Protein 2 3 4
  • C4orf5 3 4
  • Calcineurin-Binding Protein Calsarcin-1 3
  • Chromosome 4 Open Reading Frame 5 2
  • Muscle-Specific Protein 3
  • Calsarcin-1 4
  • Myozenin-2 3
  • FATZ-2 3
  • CMH16 3
  • CS-1 3

External Ids for MYOZ2 Gene

Previous HGNC Symbols for MYOZ2 Gene

  • C4orf5

Previous GeneCards Identifiers for MYOZ2 Gene

  • GC04P120814
  • GC04P120336
  • GC04P120450
  • GC04P120515
  • GC04P120414
  • GC04P120276
  • GC04P120056
  • GC04P115778

Summaries for MYOZ2 Gene

Entrez Gene Summary for MYOZ2 Gene

  • The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]

GeneCards Summary for MYOZ2 Gene

MYOZ2 (Myozenin 2) is a Protein Coding gene. Diseases associated with MYOZ2 include Cardiomyopathy, Familial Hypertrophic, 16 and Cantu Syndrome. Gene Ontology (GO) annotations related to this gene include actin binding and telethonin binding. An important paralog of this gene is MYOZ1.

UniProtKB/Swiss-Prot for MYOZ2 Gene

  • Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.

Gene Wiki entry for MYOZ2 Gene

Additional gene information for MYOZ2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOZ2 Gene

Genomics for MYOZ2 Gene

GeneHancer (GH) Regulatory Elements for MYOZ2 Gene

Promoters and enhancers for MYOZ2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J119105 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 650.3 -29.3 -29286 1.2 NFIC NFIB CEBPB CEBPG MYOZ2 USP53 FABP2 LOC102723967 GC04P119115
GH04J119134 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 650.7 +0.9 888 3.7 CTCF JUND USF1 TEAD1 PRDM1 TEAD3 MYOZ2 LOC645513 GC04P119115 MRPL42P1
GH04J119102 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.4 -32.4 -32354 2.8 ATF1 FOXA2 SIN3A FEZF1 FOS ATF7 SP3 REST ZNF518A ATF4 METTL14 CICP16 USP53 MYOZ2 SNHG8 FABP2 LOC102723967 GC04P119115
GH04J119037 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.3 -95.8 -95791 5.1 CTCF BATF RAD21 YY1 GATA3 POLR2A ZNF143 SMC3 FOS RUNX3 MYOZ2 LOC645513 ENSG00000280551 GC04P119036 SYNPO2
GH04J119237 Enhancer 0.8 ENCODE 10.4 +102.3 102322 0.7 STAT5A FEZF1 BATF IRF4 ZNF335 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 LOC645513 LOC101929762 USP53 MYOZ2 PIR34278 GC04P119302
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYOZ2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYOZ2 gene promoter:
  • MyoD
  • HSF2
  • SREBP-1c
  • SREBP-1b
  • SREBP-1a
  • FOXO4
  • C/EBPalpha
  • GCNF
  • GCNF-1

Genomic Locations for MYOZ2 Gene

Genomic Locations for MYOZ2 Gene
52,006 bases
Plus strand
52,006 bases
Plus strand

Genomic View for MYOZ2 Gene

Genes around MYOZ2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYOZ2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYOZ2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYOZ2 Gene

Proteins for MYOZ2 Gene

  • Protein details for MYOZ2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • O43415
    • Q9HB92

    Protein attributes for MYOZ2 Gene

    264 amino acids
    Molecular mass:
    29898 Da
    Quaternary structure:
    • Interacts via its C-terminus with spectrin repeats 3 and 4 of ACTN2. Interacts with ACTN1, LDB3, MYOT and PPP3CA.

neXtProt entry for MYOZ2 Gene

Post-translational modifications for MYOZ2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYOZ2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYOZ2 Gene

Domains & Families for MYOZ2 Gene

Gene Families for MYOZ2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MYOZ2 Gene


Suggested Antigen Peptide Sequences for MYOZ2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the myozenin family.
  • Belongs to the myozenin family.
genes like me logo Genes that share domains with MYOZ2: view

Function for MYOZ2 Gene

Molecular function for MYOZ2 Gene

UniProtKB/Swiss-Prot Function:
Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.

Phenotypes From GWAS Catalog for MYOZ2 Gene

Gene Ontology (GO) - Molecular Function for MYOZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IBA --
GO:0005515 protein binding IPI 10427098
GO:0030346 protein phosphatase 2B binding NAS 11114196
GO:0031433 telethonin binding IPI 15582318
GO:0051373 FATZ binding IBA --
genes like me logo Genes that share ontologies with MYOZ2: view
genes like me logo Genes that share phenotypes with MYOZ2: view

Human Phenotype Ontology for MYOZ2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYOZ2 Gene

MGI Knock Outs for MYOZ2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYOZ2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYOZ2 Gene

Localization for MYOZ2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYOZ2 Gene

Cytoplasm, myofibril, sarcomere, Z line. Note=Colocalizes with ACTN1 and PPP3CA at the Z-line of heart and skeletal muscle. {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYOZ2 gene
Compartment Confidence
cytoskeleton 3
nucleus 2
cytosol 2
plasma membrane 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYOZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0015629 actin cytoskeleton IEA,IBA --
GO:0030017 sarcomere TAS 11114196
GO:0030018 Z disc NAS 15582318
genes like me logo Genes that share ontologies with MYOZ2: view

Pathways & Interactions for MYOZ2 Gene

SuperPathways for MYOZ2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MYOZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0030239 myofibril assembly IBA --
genes like me logo Genes that share ontologies with MYOZ2: view

No data available for Pathways by source and SIGNOR curated interactions for MYOZ2 Gene

Drugs & Compounds for MYOZ2 Gene

(4) Drugs for MYOZ2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MYOZ2: view

Transcripts for MYOZ2 Gene

mRNA/cDNA for MYOZ2 Gene

(2) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(160) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYOZ2 Gene

Myozenin 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYOZ2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYOZ2 Gene

No ASD Table

Relevant External Links for MYOZ2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MYOZ2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYOZ2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYOZ2 Gene

This gene is overexpressed in Heart - Left Ventricle (x28.1), Heart - Atrial Appendage (x15.4), and Muscle - Skeletal (x6.7).

Protein differential expression in normal tissues from HIPED for MYOZ2 Gene

This gene is overexpressed in Heart (50.4) and Fetal heart (18.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MYOZ2 Gene

Protein tissue co-expression partners for MYOZ2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MYOZ2 Gene:


SOURCE GeneReport for Unigene cluster for MYOZ2 Gene:


mRNA Expression by UniProt/SwissProt for MYOZ2 Gene:

Tissue specificity: Expressed specifically in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for MYOZ2 Gene

  • Muscle(4.9)
  • Heart(3.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYOZ2 Gene

Germ Layers:
  • mesoderm
  • cardiovascular
Head and neck:
  • ear
  • heart
  • heart valve
genes like me logo Genes that share expression patterns with MYOZ2: view

Orthologs for MYOZ2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYOZ2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MYOZ2 34 33
  • 99.62 (n)
(Bos Taurus)
Mammalia MYOZ2 34 33
  • 92.3 (n)
(Canis familiaris)
Mammalia MYOZ2 34 33
  • 91.04 (n)
(Mus musculus)
Mammalia Myoz2 16 34 33
  • 87.12 (n)
(Monodelphis domestica)
Mammalia MYOZ2 34
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia MYOZ2 34
  • 81 (a)
(Gallus gallus)
Aves MYOZ2 34 33
  • 74.9 (n)
(Anolis carolinensis)
Reptilia MYOZ2 34
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia myoz2 33
  • 65.78 (n)
African clawed frog
(Xenopus laevis)
Amphibia myoz2-prov 33
(Danio rerio)
Actinopterygii myoz2b 34 33
  • 60.91 (n)
myoz2a 34
  • 44 (a)
zgc77703 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4578 33
Species where no ortholog for MYOZ2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYOZ2 Gene

Gene Tree for MYOZ2 (if available)
Gene Tree for MYOZ2 (if available)
Evolutionary constrained regions (ECRs) for MYOZ2: view image

Paralogs for MYOZ2 Gene

Paralogs for MYOZ2 Gene

genes like me logo Genes that share paralogs with MYOZ2: view

Variants for MYOZ2 Gene

Sequence variations from dbSNP and Humsavar for MYOZ2 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs112369914 benign, not-provided, not specified 119,185,944(+) TTTTTTTTTT/TTTTTTTTT/TTTTTTTTTTT/TTTTTTTTTTTT/TTTTTTTTTTTTT genic_downstream_transcript_variant, intron_variant
rs112493072 likely-benign, Hypertrophic cardiomyopathy 119,187,328(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs11559058 not-provided, likely-benign, not provided, Hypertrophic cardiomyopathy 119,135,910(+) A/G 5_prime_UTR_variant
rs11721566 not-provided, benign, not provided, not specified 119,158,004(+) A/G/T intron_variant
rs117556704 benign, conflicting-interpretations-of-pathogenicity, not specified, Cardiovascular phenotype, Hypertrophic cardiomyopathy 119,158,135(+) A/G coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for MYOZ2 Gene

Variant ID Type Subtype PubMed ID
dgv5373n100 CNV gain 25217958
esv3306771 CNV mobile element insertion 20981092
esv3601959 CNV gain 21293372
esv3601963 CNV loss 21293372
nsv4488 CNV insertion 18451855
nsv507191 OTHER sequence alteration 20534489
nsv522386 CNV gain 19592680

Variation tolerance for MYOZ2 Gene

Residual Variation Intolerance Score: 70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.44; 28.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYOZ2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYOZ2 Gene

Disorders for MYOZ2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MYOZ2 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, familial hypertrophic, 16
  • cmh16
cantu syndrome
  • hypertrichotic osteochondrodysplasia
pleomorphic adenoma
  • mixed tumor of the salivary gland
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search MYOZ2 in MalaCards View complete list of genes associated with diseases


  • Cardiomyopathy, familial hypertrophic 16 (CMH16) [MIM:613838]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:17347475}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MYOZ2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MYOZ2: view

No data available for Genatlas for MYOZ2 Gene

Publications for MYOZ2 Gene

  1. Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy. (PMID: 17347475) Osio A … Marian AJ (Circulation research 2007) 3 4 22 44 58
  2. Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy. (PMID: 18591919) Posch MG … Ozcelik C (Medical science monitor : international medical journal of experimental and clinical research 2008) 3 22 44 58
  3. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. (PMID: 16076904) Gontier Y … Borradori L (Journal of cell science 2005) 3 4 22 58
  4. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. (PMID: 11842093) Frey N … Olson EN (The Journal of biological chemistry 2002) 3 4 22 58
  5. Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. (PMID: 11114196) Frey N … Olson EN (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 22 58

Products for MYOZ2 Gene

Sources for MYOZ2 Gene

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