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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
  • 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, hypertrophic, 16 and myoz2-related familial hypertrophic cardiomyopathy. GO annotations related to this gene include actin binding and telethonin binding. An important paralog of this gene is MYOZ3.

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

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

Genomics for MYOZ2 Gene

Regulatory Elements for MYOZ2 Gene

Enhancers for MYOZ2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MYOZ2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYOZ2 Gene

Chromosome:
4
Start:
119,135,784 bp from pter
End:
119,187,789 bp from pter
Size:
52,006 bases
Orientation:
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:
    Q9NPC6-MYOZ2_HUMAN
    Recommended name:
    Myozenin-2
    Protein Accession:
    Q9NPC6
    Secondary Accessions:
    • O43415
    • Q9HB92

    Protein attributes for MYOZ2 Gene

    Size:
    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

Proteomics data for MYOZ2 Gene at MOPED

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

Protein Domains for MYOZ2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYOZ2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NPC6

UniProtKB/Swiss-Prot:

MYOZ2_HUMAN :
  • Belongs to the myozenin family.
Family:
  • Belongs to the myozenin family.
genes like me logo Genes that share domains with MYOZ2: view

No data available for Gene Families for MYOZ2 Gene

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.

Gene Ontology (GO) - Molecular Function for MYOZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10427098
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

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

COMPARTMENTS
Jensen Localization Image for MYOZ2 Gene COMPARTMENTS Subcellular localization image for MYOZ2 gene
Compartment Confidence
cytoskeleton 2
cytosol 2
nucleus 2
golgi apparatus 1
mitochondrion 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for MYOZ2 Gene

Pathways & Interactions for MYOZ2 Gene

SuperPathways for MYOZ2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MYOZ2 Gene

None

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

Drugs & Compounds for MYOZ2 Gene

(3) Drugs for MYOZ2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for MYOZ2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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

No ASD Table

Relevant External Links for MYOZ2 Gene

GeneLoc Exon Structure for
MYOZ2
ECgene alternative splicing isoforms for
MYOZ2

Expression for MYOZ2 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for MYOZ2 Gene



SOURCE GeneReport for Unigene cluster for MYOZ2 Gene Hs.732122

mRNA Expression by UniProt/SwissProt for MYOZ2 Gene

Q9NPC6-MYOZ2_HUMAN
Tissue specificity: Expressed specifically in heart and skeletal muscle.
genes like me logo Genes that share expression patterns with MYOZ2: view

Protein tissue co-expression partners for MYOZ2 Gene

- Elite partner

Primer Products

Orthologs for MYOZ2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYOZ2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYOZ2 35
  • 92.3 (n)
  • 90.91 (a)
MYOZ2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYOZ2 35
  • 91.04 (n)
  • 93.56 (a)
MYOZ2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myoz2 35
  • 87.12 (n)
  • 88.26 (a)
Myoz2 16
Myoz2 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYOZ2 35
  • 99.62 (n)
  • 99.24 (a)
MYOZ2 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYOZ2 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYOZ2 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYOZ2 35
  • 74.9 (n)
  • 71.86 (a)
MYOZ2 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYOZ2 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myoz2 35
  • 65.78 (n)
  • 62.5 (a)
African clawed frog
(Xenopus laevis)
Amphibia myoz2-prov 35
zebrafish
(Danio rerio)
Actinopterygii myoz2b 35
  • 60.91 (n)
  • 57.52 (a)
zgc77703 35
myoz2a 36
  • 44 (a)
OneToMany
myoz2b 36
  • 54 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4578 35
Species with no ortholog for MYOZ2:
  • 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

ENSEMBL:
Gene Tree for MYOZ2 (if available)
TreeFam:
Gene Tree for MYOZ2 (if available)

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 Sequence Context AA Info Type
VAR_065469 Cardiomyopathy, familial hypertrophic 16 (CMH16)
rs140126678 Cardiomyopathy, familial hypertrophic 16 (CMH16) 119,186,143(+) CCTAT(A/G)GTGAT reference, missense
rs1033086 -- 119,182,326(-) AAGCA(A/C)TCAGA intron-variant
rs1033087 -- 119,182,246(-) GCTAG(A/G)AGCTA intron-variant
rs1459055 -- 119,135,660(-) ACATG(C/T)AGAAA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv522386 CNV Gain 19592680
nsv4488 CNV Insertion 18451855
nsv507191 CNV Insertion 20534489
esv271047 CNV Insertion 20981092

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)

Relevant External Links for MYOZ2 Gene

HapMap Linkage Disequilibrium report
MYOZ2
Human Gene Mutation Database (HGMD)
MYOZ2

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: OMIM, ClinVar, GeneTests, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, hypertrophic, 16
  • cardiomyopathy, familial hypertrophic, 16
myoz2-related familial hypertrophic cardiomyopathy
cardiomyopathy, familial hypertrophic
  • cardiomyopathy, hypertrophic, 1
cardiomyopathy
  • cardiomyopathies
pleomorphic adenoma
  • mixed tumor of the salivary gland
- elite association - COSMIC cancer census association via MalaCards
Search MYOZ2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYOZ2_HUMAN
  • 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.

Relevant External Links for MYOZ2

Genetic Association Database (GAD)
MYOZ2
Human Genome Epidemiology (HuGE) Navigator
MYOZ2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYOZ2
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 A.J. (Circ. Res. 2007) 3 4 23 48 67
  2. A class III PDZ binding motif in the myotilin and FATZ families binds enigma family proteins: a common link for Z-disc myopathies. (PMID: 19047374) von Nandelstadh P. … Faulkner G. (Mol. Cell. Biol. 2009) 3 23
  3. Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy. (PMID: 18591919) Posch M.G. … Ozcelik C. (Med. Sci. Monit. 2008) 3 23
  4. Nicotinic modulation of gene expression in SH-SY5Y neuroblastoma cells. (PMID: 16949557) Dunckley T. … Lukas R.J. (Brain Res. 2006) 3 23
  5. 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. (J. Cell Sci. 2005) 3 23

Products for MYOZ2 Gene

Sources for MYOZ2 Gene

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