Symbol: Name: ID: |
MYOZ2 myozenin 2 GFS:2930 |
Gene name: | MYOZ2 |
Chromosome: | 4q26-q27 |
Previous Symbols: | C4orf5 |
Previous Names: | chromosome 4 open reading frame 5 |
Aliases: | CS-1 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1913063 | Rat Genome Database ID: | RGD:1307669 |
HGNC ID: | HGNC:1330 | RefSeq IDs: | NM_016599 |
Entrez Gene ID: | 51778 | Ensembl Gene ID: | ENSG00000172399 |
VEGA IDs: | OTTHUMG00000132968 | UniProt ID: | Q9NPC6 |
UCSC ID: | uc003icp.3 | OMIM ID: | 605602 |
Pubmed: | PMID8619474 PMID 9110174 | ||
CCDS IDs: | CCDSCCDS3711.1 |
Myozenin-2 is a protein that in humans is encoded by the MYOZ2 gene.
The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
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.
Products for MYOZ2 gene
Catalog | Product Name | Application | Company |
GFS:E02930 | myozenin 2; ELISA kit | ELISA | n/a |
GFS:A02930 | myozenin 2; Anti | ANTIBODIES | n/a |
GFS:P02930 | myozenin 2; Protien | Protien | n/a |