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Aliases for MYOZ3 Gene

Aliases for MYOZ3 Gene

  • Myozenin 3 2 3 5
  • FATZ-Related Protein 3 3 4
  • Calsarcin-3 3 4
  • FRP3 3 4
  • FATZ Related Protein 3 2
  • Calsarcin 3 2
  • CS-3 3
  • CS3 3

External Ids for MYOZ3 Gene

Previous GeneCards Identifiers for MYOZ3 Gene

  • GC05P150109
  • GC05P150068
  • GC05P150020
  • GC05P145186

Summaries for MYOZ3 Gene

Entrez Gene Summary for MYOZ3 Gene

  • The protein encoded by this gene is specifically expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]

GeneCards Summary for MYOZ3 Gene

MYOZ3 (Myozenin 3) is a Protein Coding gene. An important paralog of this gene is MYOZ1.

UniProtKB/Swiss-Prot for MYOZ3 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOZ3 Gene

Genomics for MYOZ3 Gene

Regulatory Elements for MYOZ3 Gene

Enhancers for MYOZ3 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 MYOZ3 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYOZ3 Gene

Chromosome:
5
Start:
150,660,841 bp from pter
End:
150,679,700 bp from pter
Size:
18,860 bases
Orientation:
Plus strand

Genomic View for MYOZ3 Gene

Genes around MYOZ3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYOZ3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYOZ3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYOZ3 Gene

Proteins for MYOZ3 Gene

  • Protein details for MYOZ3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDC0-MYOZ3_HUMAN
    Recommended name:
    Myozenin-3
    Protein Accession:
    Q8TDC0
    Secondary Accessions:
    • B2R9Q4
    • D3DQG9
    • Q8IVM1
    • Q8IVN1

    Protein attributes for MYOZ3 Gene

    Size:
    251 amino acids
    Molecular mass:
    27157 Da
    Quaternary structure:
    • Interacts with ACTN2, LDB3, FLNC, PPP3CA and TCAP.

    Alternative splice isoforms for MYOZ3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYOZ3 Gene

Proteomics data for MYOZ3 Gene at MOPED

Post-translational modifications for MYOZ3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYOZ3 Gene

No data available for DME Specific Peptides for MYOZ3 Gene

Domains & Families for MYOZ3 Gene

Protein Domains for MYOZ3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYOZ3 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TDC0

UniProtKB/Swiss-Prot:

MYOZ3_HUMAN :
  • Belongs to the myozenin family.
Family:
  • Belongs to the myozenin family.
genes like me logo Genes that share domains with MYOZ3: view

No data available for Gene Families for MYOZ3 Gene

Function for MYOZ3 Gene

Molecular function for MYOZ3 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.
genes like me logo Genes that share phenotypes with MYOZ3: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MYOZ3 Gene

Localization for MYOZ3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYOZ3 Gene

Cytoplasm, myofibril, sarcomere, Z line. Note=Localized at the Z-line of skeletal muscle. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYOZ3 Gene COMPARTMENTS Subcellular localization image for MYOZ3 gene
Compartment Confidence
cytosol 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for MYOZ3 Gene

Pathways & Interactions for MYOZ3 Gene

SuperPathways for MYOZ3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MYOZ3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MYOZ3 Gene

Drugs & Compounds for MYOZ3 Gene

No Compound Related Data Available

Transcripts for MYOZ3 Gene

Unigene Clusters for MYOZ3 Gene

Myozenin 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYOZ3 Gene

No ASD Table

Relevant External Links for MYOZ3 Gene

GeneLoc Exon Structure for
MYOZ3
ECgene alternative splicing isoforms for
MYOZ3

Expression for MYOZ3 Gene

mRNA expression in normal human tissues for MYOZ3 Gene

mRNA differential expression in normal tissues according to GTEx for MYOZ3 Gene

This gene is overexpressed in Muscle - Skeletal (x25.5).

Protein differential expression in normal tissues from HIPED for MYOZ3 Gene

This gene is overexpressed in Testis (46.2) and Ovary (22.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYOZ3 Gene



SOURCE GeneReport for Unigene cluster for MYOZ3 Gene Hs.91626

mRNA Expression by UniProt/SwissProt for MYOZ3 Gene

Q8TDC0-MYOZ3_HUMAN
Tissue specificity: Expressed specifically in skeletal muscle. Not detected in heart.
genes like me logo Genes that share expression patterns with MYOZ3: view

Protein tissue co-expression partners for MYOZ3 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MYOZ3 Gene

Orthologs for MYOZ3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYOZ3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYOZ3 35
  • 83.54 (n)
  • 80.82 (a)
MYOZ3 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYOZ3 35
  • 87.48 (n)
  • 83.67 (a)
MYOZ3 36
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myoz3 35
  • 80.14 (n)
  • 75.51 (a)
Myoz3 16
Myoz3 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYOZ3 35
  • 93.2 (n)
  • 93.6 (a)
MYOZ3 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myoz3 35
  • 80.19 (n)
  • 76.23 (a)
oppossum
(Monodelphis domestica)
Mammalia MYOZ3 36
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYOZ3 35
  • 57.7 (n)
  • 47.53 (a)
MYOZ3 36
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYOZ3 36
  • 32 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732337 35
  • 49.28 (n)
  • 42.86 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01006980.1 36
  • 37 (a)
OneToMany
myoz3a 36
  • 31 (a)
OneToMany
Species with no ortholog for MYOZ3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 MYOZ3 Gene

ENSEMBL:
Gene Tree for MYOZ3 (if available)
TreeFam:
Gene Tree for MYOZ3 (if available)

Paralogs for MYOZ3 Gene

Paralogs for MYOZ3 Gene

genes like me logo Genes that share paralogs with MYOZ3: view

Variants for MYOZ3 Gene

Sequence variations from dbSNP and Humsavar for MYOZ3 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs7737542 - 150,676,745(+) GGGCA(A/C)TTTTC reference, missense
VAR_067718 -
rs888715 -- 150,674,718(-) TGTTT(C/G)TTAAT intron-variant
rs6861019 -- 150,678,755(+) ATTTA(C/T)AATAA utr-variant-3-prime
rs7718221 -- 150,660,955(+) CATCT(A/G)TCTAT utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for MYOZ3 Gene

Variant ID Type Subtype PubMed ID
dgv1862e1 CNV Complex 17122850
nsv428129 CNV Loss 18775914
esv33898 CNV Loss 17666407
esv29484 CNV Loss 19812545

Variation tolerance for MYOZ3 Gene

Residual Variation Intolerance Score: 78.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.37; 63.42% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for MYOZ3 Gene

Disorders for MYOZ3 Gene

Relevant External Links for MYOZ3

Genetic Association Database (GAD)
MYOZ3
Human Genome Epidemiology (HuGE) Navigator
MYOZ3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYOZ3

No disorders were found for MYOZ3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MYOZ3 Gene

Publications for MYOZ3 Gene

  1. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. (PMID: 11842093) Frey N. … Olson E.N. (J. Biol. Chem. 2002) 2 3 4 23 67
  2. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A. … Wanker E.E. (Sci Signal 2011) 3
  3. 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) 23
  4. Candidate-gene testing for orphan limb-girdle muscular dystrophies. (PMID: 19472918) Aurino S. … Nigro V. (Acta Myol 2008) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for MYOZ3 Gene

Sources for MYOZ3 Gene

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