Version 5.4
Homo sapiens Protein: MYOZ2
Summary
InnateDB Protein IDBP-35658.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MYOZ2
Protein Name myozenin 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000306997
InnateDB Gene IDBG-35656 (MYOZ2)
Protein Structure
UniProt Annotation
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.
Subcellular Localization Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250}. Note=Colocalizes with ACTN1 and PPP3CA at the Z- line of heart and skeletal muscle. {ECO:0000250}.
Disease Associations Cardiomyopathy, familial hypertrophic 16 (CMH16) [MIM:613838]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269PubMed:17347475}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed specifically in heart and skeletal muscle. {ECO:0000250UniProtKB:Q9JJW5, ECO:0000269PubMed:11114196, ECO:0000269PubMed:11161785}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005515 protein binding
GO:0030346 protein phosphatase 2B binding
GO:0031433 telethonin binding
Biological Process
GO:0008150 biological_process
Cellular Component
GO:0015629 actin cytoskeleton
GO:0030017 sarcomere
GO:0030018 Z disc
Protein Structure and Domains
PDB ID
InterPro IPR008438 Myozenin
PFAM PF05556
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NPC6
PhosphoSite PhosphoSite-Q9NPC6
TrEMBL
UniProt Splice Variant
Entrez Gene 51778
UniGene Hs.732122
RefSeq NP_057683
HUGO HGNC:1330
OMIM 605602
CCDS CCDS3711
HPRD 05724
IMGT
EMBL AF007160 AF249873 AF267992 AF267994 AF267997 AJ252149 AY013295 BC005195 BC017402 BC020932 BT007214
GenPept AAC19160 AAF63623 AAG13932 AAG38938 AAH05195 AAH17402 AAH20932 AAP35878 CAB92965

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca