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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
  • Myozenin-3 3
  • 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 MYOZ2.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F150623 1 FANTOM5 Ensembl ENCODE 16.8 -32.3 -32273 10.6 HDGF PKNOX1 YBX1 YY1 GLIS2 ZNF207 FOS ZNF263 SP3 TBX21 MYOZ3 SYNPO LOC105378227 NDST1 NDST1-AS1 GC05M150601
GH05F150699 0.4 ENCODE 11.6 +39.8 39811 2.6 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 SMIM3 RPS14 PDGFRB RPL7P1 GPX3 LOC105378227 MYOZ3 RBM22 DCTN4 HMGXB3
GH05F150496 1 Ensembl ENCODE 10.3 -152.8 -152782 24.1 HDGF PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 HMGXB3 ZNF300 NDST1 TIGD6 ZNF300P1 RPL7P1 NDST1-AS1 RPS14 SYNPO ENSG00000253852
GH05F150670 0.4 ENCODE 6 +11.8 11831 5.3 HDGF ATF1 PKNOX1 ARNT CREB3L1 SIN3A ZNF121 ZNF766 CBX5 FOS MYOZ3 RPS14 GM2A LOC105378227 RBM22
GH05F150665 0.7 ENCODE 5.9 +4.3 4313 0.2 BHLHE40 MYOZ3 LOC105378227
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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

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.

Gene Ontology (GO) - Molecular Function for MYOZ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IBA --
GO:0005515 protein binding IPI 10427098
GO:0031433 telethonin binding IBA --
GO:0051373 FATZ binding IBA --
genes like me logo Genes that share ontologies with MYOZ3: view
genes like me logo Genes that share phenotypes with MYOZ3: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

Gene Ontology (GO) - Cellular Components for MYOZ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0015629 actin cytoskeleton IBA --
GO:0030018 Z disc IEA,IBA --
genes like me logo Genes that share ontologies with MYOZ3: view

Pathways & Interactions for MYOZ3 Gene

SuperPathways for MYOZ3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MYOZ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030239 myofibril assembly IBA --
genes like me logo Genes that share ontologies with MYOZ3: view

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

Transcripts for MYOZ3 Gene

Unigene Clusters for MYOZ3 Gene

Myozenin 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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



Protein tissue co-expression partners for MYOZ3 Gene

NURSA nuclear receptor signaling pathways regulating expression of MYOZ3 Gene:

MYOZ3

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

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
chimpanzee
(Pan troglodytes)
Mammalia MYOZ3 34 35
  • 93.2 (n)
dog
(Canis familiaris)
Mammalia MYOZ3 34 35
  • 87.48 (n)
cow
(Bos Taurus)
Mammalia MYOZ3 34 35
  • 83.54 (n)
rat
(Rattus norvegicus)
Mammalia Myoz3 34
  • 80.19 (n)
mouse
(Mus musculus)
Mammalia Myoz3 34 16 35
  • 80.14 (n)
oppossum
(Monodelphis domestica)
Mammalia MYOZ3 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYOZ3 34 35
  • 57.7 (n)
lizard
(Anolis carolinensis)
Reptilia MYOZ3 35
  • 32 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732337 34
  • 49.28 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01006980.1 35
  • 37 (a)
OneToMany
myoz3a 35
  • 31 (a)
OneToMany
Species where no ortholog for MYOZ3 was found in the sources mined by GeneCards:
  • 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
rs10036780 -- 150,667,140(+) AGTGT(C/G)CTTTT intron-variant
rs10036981 -- 150,668,505(+) AATGT(C/T)GGAGG intron-variant
rs10038115 -- 150,665,139(+) CCTGA(C/T)GAGGG intron-variant
rs10038969 -- 150,668,301(+) CTTGT(A/G)TTGCT intron-variant
rs10038993 -- 150,668,344(+) CCTTG(A/C)CACAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1148e214 CNV gain 21293372
esv2759386 CNV loss 17122850
esv29484 CNV loss 19812545
esv33898 CNV loss 17666407
nsv428129 CNV loss 18775914
nsv599960 CNV loss 21841781

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)

Relevant External Links for MYOZ3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYOZ3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 22 64
  2. Candidate-gene testing for orphan limb-girdle muscular dystrophies. (PMID: 19472918) Aurino S. … Nigro V. (Acta Myol 2008) 3 46 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A. … Wanker E.E. (Sci Signal 2011) 3 64
  5. 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) 22 64

Products for MYOZ3 Gene

Sources for MYOZ3 Gene

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