MYOZ2
entrez
51778
canonical
uniprot
Q9NPC6
canonical
ensembl
ENSG00000172399
resolver
ensp
ENSP00000306997
resolver
ensp
ENSP00000560413
resolver
ensp
ENSP00000560415
resolver
ensp
ENSP00000628768
resolver
ensp
ENSP00000628769
resolver
ensp
ENSP00000767083
resolver
ensp
ENSP00000791504
resolver
enst
ENST00000307128
resolver
enst
ENST00000890354
resolver
enst
ENST00000890356
resolver
enst
ENST00000958709
resolver
enst
ENST00000958710
resolver
genesymbol
MYOZ2
resolver
genesymbol_syn
C4orf5
resolver
hgnc
HGNC:1330
resolver
uniprot
O43415
resolver
uniprot
Q9HB92
resolver
uniprot_entry
MYOZ2_HUMAN
resolver
uniprot_sec
O43415
resolver
uniprot_sec
Q9HB92
resolver
amino_acid_sequence
MLSHNTMMKQRKQQATAIMKEVHGNDVDGMDLGKKVSIPRDIMLEELSHLSNRGARLFKMRQRRSDKYTFENFQYQSRAQINHSIAMQNGKVDGSNLEGGSQQAPLTPPNTPDPRSPPNPDNIAPGYSGPLKEIPPEKFNTTAVPKYYQSPWEQAISNDPELLEALYPKLFKPEGKAELPDYRSFNRVATPFGGFEKASRMVKFKVPDFELLLLTDPRFMSFVNPLSGRRSFNRTPKGWISENIPIVITTEPTDDTTVPESEDL
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:17347475}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
29898
uniprot
proteins
protein_family
Myozenin family
uniprot
proteins
pubmed
11114196
uniprot
proteins
pubmed
11161785
uniprot
proteins
pubmed
11842093
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16076904
uniprot
proteins
pubmed
17347475
uniprot
proteins
sequence_length
264
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250}. Note=Colocalizes with ACTN1 and PPP3CA at the Z-line of heart and skeletal muscle. {ECO:0000250}.
uniprot
proteins