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Myoz2 Gene Detail
Summary
  • Symbol
    Myoz2
  • Name
    myozenin 2
  • Synonyms
    1110012I24Rik, calsarcin-1, Fatz-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913063
    NCBI Gene: 59006
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:122799855-122828649 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 53.78 cM, cytoband G3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1002 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913063
 protein coding gene Chr3:122799855-122828664 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027846
 protein coding gene Chr3:125311731-125342989 (-)
A/J MGP_AJ_G0027805
 protein coding gene Chr3:121110720-121140022 (-)
AKR/J MGP_AKRJ_G0027770
 protein coding gene Chr3:124202134-124231412 (-)
BALB/cJ MGP_BALBcJ_G0027817
 protein coding gene Chr3:120921746-120951001 (-)
C3H/HeJ MGP_C3HHeJ_G0027547
 protein coding gene Chr3:124597478-124627377 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028262
 protein coding gene Chr3:129839611-129871262 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025599
 protein coding gene Chr3:116534233-116562965 (-)
CAST/EiJ MGP_CASTEiJ_G0027002
 protein coding gene Chr3:123999223-124025831 (-)
CBA/J MGP_CBAJ_G0027522
 protein coding gene Chr3:134243065-134271482 (-)
DBA/2J MGP_DBA2J_G0027663
 protein coding gene Chr3:120237913-120265696 (-)
FVB/NJ MGP_FVBNJ_G0027631
 protein coding gene Chr3:117853664-117885585 (-)
LP/J MGP_LPJ_G0027773
 protein coding gene Chr3:126817558-126845294 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027661
 protein coding gene Chr3:141799385-141845123 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028318
 protein coding gene Chr3:123758269-123787623 (-)
PWK/PhJ MGP_PWKPhJ_G0026728
 protein coding gene Chr3:119966893-119997126 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026552
 protein coding gene Chr3:121858754-121891513 (-)
WSB/EiJ MGP_WSBEiJ_G0027082
 protein coding gene Chr3:124499161-124530552 (-)



Homology
more
  • Human Ortholog
    MYOZ2, myozenin 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MYOZ2, myozenin 2
  • Synonyms
    C4orf5, CMH16, CS-1, FATZ-2
  • Links
    NCBI Gene ID: 51778
    neXtProt AC: NX_Q9NPC6
    UniProt: Q9NPC6

  • Chr Location
    4q26; chr4:119135832-119187789 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human MYOZ2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 1 allele in 1 genetic background
    9 phenotypes from multigenic genotypes
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • GO References
    6
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    814
  • Tissues
    29
  • cDNA Data
    40
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 59006 NCBI Gene Model | MGI Sequence Detail 28795 C57BL/6J ±  kb
    transcript NM_001355462 RefSeq | MGI Sequence Detail 1325 C57BL/6  
    polypeptide Q9JJW5 UniProt | EBI | MGI Sequence Detail 264 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 43
      cDNA 41
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1915768
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 6
      Phenotypes 12
    • 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:348385 Eden M, et al., Mst4, a novel cardiac STRIPAK complex-associated kinase, regulates cardiomyocyte growth and survival and is upregulated in human cardiomyopathy. J Biol Chem. 2024 Apr 3;300(5):107255
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory