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Myoz2
Gene Detail
 Symbol
Name
ID
Myoz2
myozenin 2
MGI:1913063
Synonyms 1110012I24Rik, calsarcin-1, Fatz-2
Feature Type protein coding gene
Genetic Map
Chromosome 3
53.78 cM, cytoband G3
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr3:123006206-123034990 bp, - strand
From VEGA annotation of GRCm38

  28785 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9583  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Myoz2

Human
homologs
Human Homolog MYOZ2, myozenin 2
NCBI Gene ID 51778
neXtProt AC  NX_Q9NPC6
Human Synonyms  C4orf5, CMH16, CS-1
Human Chr (Location)  4q26-q27; chr4:119135784-119187789 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human MYOZ2
Mutations,
alleles, and
phenotypes
All mutations/alleles(1) : Targeted(1)
Incidental mutations (data from APF )
 
Homozygous null mutants show an excess of skeletal muscle fibers and chronically activated hypertrophic gene program despite the absence of hypertrophy. However, stressed null mutants do form cardiac hypertrophy.
 
Alleles Annotated to Human Diseases(1)   
Interactions
Myoz2 interacts with 142 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (6 annotations)
Component actin cytoskeleton, cytoplasm, ...
Function actin binding, telethonin binding
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (83)    Tissues (8)    Images (26)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 81
RT-PCR 2
cDNA source data(38)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(40) cDNA(39) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000029055 (Evidence)
Ensembl Gene ModelENSMUSG00000028116 (Evidence)
Entrez Gene59006 (Evidence)
UniGene141157
DFCITC1582190, TC1743603
DoTSDT.531999
NIA Mouse Gene IndexU024604
Consensus CDS ProjectCCDS17816.1
International Mouse Knockout Project StatusMyoz2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029055 VEGA Gene Model | MGI Sequence Detail 28785 C57BL/6J ±  kb
transcript OTTMUST00000072089 VEGA | MGI Sequence Detail 1156 Not Applicable 
polypeptide OTTMUSP00000037025 VEGA | MGI Sequence Detail 264 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(8) UniProt(2)
Polymorphisms SNPs within 2kb(448 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008438 Calcineurin-binding
Protein Ontology PR:000010883 myozenin-2
References (Earliest) J:66484 Frey N, et al., Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14632-7
(Latest) J:210073 Ruggiero A, et al., Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity. Cardiovasc Res. 2013 Jan 1;97(1):44-54
All references(37)
Other
accession IDs
MGI:1915768

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory