Human Gene MYOZ3 (ENST00000297130.4) from GENCODE V44
  Description: Homo sapiens myozenin 3 (MYOZ3), transcript variant 2, mRNA. (from RefSeq NM_133371)
RefSeq Summary (NM_133371): 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].
Gencode Transcript: ENST00000297130.4
Gencode Gene: ENSG00000164591.14
Transcript (Including UTRs)
   Position: hg38 chr5:150,660,882-150,679,365 Size: 18,484 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr5:150,662,942-150,676,875 Size: 13,934 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:150,660,882-150,679,365)mRNA (may differ from genome)Protein (251 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYOZ3_HUMAN
DESCRIPTION: RecName: Full=Myozenin-3; AltName: Full=Calsarcin-3; AltName: Full=FATZ-related protein 3;
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.
SUBUNIT: Interacts with ACTN2, LDB3, FLNC, PPP3CA and TCAP.
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line (By similarity). Note=Localized at the Z-line of skeletal muscle (By similarity).
TISSUE SPECIFICITY: Expressed specifically in skeletal muscle. Not detected in heart.
SIMILARITY: Belongs to the myozenin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.94 RPKM in Muscle - Skeletal
Total median expression: 39.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.70199-0.199 Picture PostScript Text
3' UTR -872.302490-0.350 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008438 - Calsarcin-bd

Pfam Domains:
PF05556 - Calcineurin-binding protein (Calsarcin)

ModBase Predicted Comparative 3D Structure on Q8TDC0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0031433 telethonin binding
GO:0051373 FATZ binding

Biological Process:
GO:0030239 myofibril assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0015629 actin cytoskeleton
GO:0030018 Z disc


-  Descriptions from all associated GenBank mRNAs
  AK313873 - Homo sapiens cDNA, FLJ94506, Homo sapiens myozenin 3 (MYOZ3), mRNA.
AJ300586 - Homo sapiens mRNA for FATZ related protein 3, splice variant A (FRP3 gene).
BC074870 - Homo sapiens myozenin 3, mRNA (cDNA clone MGC:103850 IMAGE:30915232), complete cds.
BC074871 - Homo sapiens myozenin 3, mRNA (cDNA clone MGC:104025 IMAGE:30915469), complete cds.
AF480443 - Homo sapiens calsarcin-3 mRNA, complete cds.
AJ300587 - Homo sapiens mRNA for FATZ related protein 3, splice variant B (FRP3 gene).
BC069380 - Homo sapiens myozenin 3, mRNA (cDNA clone MGC:96986 IMAGE:7262195), complete cds.
BC069553 - Homo sapiens myozenin 3, mRNA (cDNA clone MGC:96998 IMAGE:7262207), complete cds.
AJ277961 - Homo sapiens mRNA for FATZ related protein 3 (ORF1).
AF052497 - Homo sapiens clone B18 unknown mRNA.
JD193575 - Sequence 174599 from Patent EP1572962.
JD086262 - Sequence 67286 from Patent EP1572962.
JD177423 - Sequence 158447 from Patent EP1572962.
JD557625 - Sequence 538649 from Patent EP1572962.
JD037045 - Sequence 18069 from Patent EP1572962.
JD248334 - Sequence 229358 from Patent EP1572962.
JD382387 - Sequence 363411 from Patent EP1572962.
JD330429 - Sequence 311453 from Patent EP1572962.
JD244524 - Sequence 225548 from Patent EP1572962.
JD142550 - Sequence 123574 from Patent EP1572962.
JD222895 - Sequence 203919 from Patent EP1572962.
JD497747 - Sequence 478771 from Patent EP1572962.
JD542802 - Sequence 523826 from Patent EP1572962.
JD212775 - Sequence 193799 from Patent EP1572962.
JD231039 - Sequence 212063 from Patent EP1572962.
JD271429 - Sequence 252453 from Patent EP1572962.
JD198171 - Sequence 179195 from Patent EP1572962.
JD536553 - Sequence 517577 from Patent EP1572962.
JD459836 - Sequence 440860 from Patent EP1572962.
JD131536 - Sequence 112560 from Patent EP1572962.
JD413476 - Sequence 394500 from Patent EP1572962.
JD247065 - Sequence 228089 from Patent EP1572962.
JD247066 - Sequence 228090 from Patent EP1572962.
JD247068 - Sequence 228092 from Patent EP1572962.
JD247067 - Sequence 228091 from Patent EP1572962.
JD257751 - Sequence 238775 from Patent EP1572962.
JD564503 - Sequence 545527 from Patent EP1572962.
JD379223 - Sequence 360247 from Patent EP1572962.
JD143324 - Sequence 124348 from Patent EP1572962.
JD140293 - Sequence 121317 from Patent EP1572962.
JD204579 - Sequence 185603 from Patent EP1572962.
JD537872 - Sequence 518896 from Patent EP1572962.
JD365589 - Sequence 346613 from Patent EP1572962.
JD387644 - Sequence 368668 from Patent EP1572962.
LF211058 - JP 2014500723-A/18561: Polycomb-Associated Non-Coding RNAs.
MA446635 - JP 2018138019-A/18561: Polycomb-Associated Non-Coding RNAs.
JD041954 - Sequence 22978 from Patent EP1572962.
JD363636 - Sequence 344660 from Patent EP1572962.
JD160548 - Sequence 141572 from Patent EP1572962.
JD373767 - Sequence 354791 from Patent EP1572962.
JD078020 - Sequence 59044 from Patent EP1572962.
JD286383 - Sequence 267407 from Patent EP1572962.
JD183703 - Sequence 164727 from Patent EP1572962.
JD472153 - Sequence 453177 from Patent EP1572962.
JD079405 - Sequence 60429 from Patent EP1572962.
JD493519 - Sequence 474543 from Patent EP1572962.
JD162493 - Sequence 143517 from Patent EP1572962.
JD223159 - Sequence 204183 from Patent EP1572962.
LF343578 - JP 2014500723-A/151081: Polycomb-Associated Non-Coding RNAs.
MA579155 - JP 2018138019-A/151081: Polycomb-Associated Non-Coding RNAs.
JD449776 - Sequence 430800 from Patent EP1572962.
JD258171 - Sequence 239195 from Patent EP1572962.
JD025326 - Sequence 6350 from Patent EP1572962.
JD033393 - Sequence 14417 from Patent EP1572962.
JD062529 - Sequence 43553 from Patent EP1572962.
JD273142 - Sequence 254166 from Patent EP1572962.
JD450641 - Sequence 431665 from Patent EP1572962.
JD501456 - Sequence 482480 from Patent EP1572962.
JD424318 - Sequence 405342 from Patent EP1572962.
JD282361 - Sequence 263385 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2R9Q4, D3DQG9, ENST00000297130.1, ENST00000297130.2, ENST00000297130.3, FRP3, MYOZ3_HUMAN, NM_133371, Q8IVM1, Q8IVN1, Q8TDC0, uc003lsr.1, uc003lsr.2, uc003lsr.3, uc003lsr.4
UCSC ID: ENST00000297130.4
RefSeq Accession: NM_133371
Protein: Q8TDC0 (aka MYOZ3_HUMAN)
CCDS: CCDS4309.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.