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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

HCOP human homology predictions: MYOZ2
Gene Tree: Myoz2

Human
homologs
MYOZ2, myozenin 2
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 51778
neXtProt AC: NX_Q9NPC6

Human Synonyms: C4orf5, CMH16, CS-1

Human Chr (Location): 4q26-q27; chr4:119135784-119187789 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human MYOZ2

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(1) Transgenic(2)
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.
 
Mutations Annotated to Human Diseases (3)   
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)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 81
RT-PCR 2
cDNA source data(38)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase myoz2 ; ZFIN myoz2a, myoz2b    NEW 
Molecular
reagents
All nucleic(40) cDNA(39) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000029055 (Evidence)
Ensembl Gene Model ENSMUSG00000028116 (Evidence)
Entrez Gene 59006 (Evidence)
UniGene 141157
DFCI TC1743603, TC1582190
DoTS DT.531999
NIA Mouse Gene Index U024604
Consensus CDS Project CCDS17816.1
International Mouse Phenotyping Consortium Status Myoz2
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(36)
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
05/20/2015
MGI 5.22
The Jackson Laboratory