Entity Details

Primary name MYOZ2
Entity type gene
Source Source Link

Details

PrimaryID51778
RefseqGeneNG_029747
SymbolMYOZ2
Namemyozenin 2
Chromosome4
Location4q26
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-01-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMYOZ2_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0003779 actin binding
GO:0007519 skeletal muscle tissue development
GO:0015629 actin cytoskeleton
GO:0030017 sarcomere
GO:0030018 Z disc
GO:0030346 protein phosphatase 2B binding
GO:0031433 telethonin binding
GO:0043503 skeletal muscle fiber adaptation
GO:0045214 sarcomere organization
GO:0051373 FATZ binding
GO:0070885 negative regulation of calcineurin-NFAT signaling cascade

Diseases

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Disease IDSourceNameDescription
613838 OMIMCardiomyopathy, familial hypertrophic 16 (CMH16)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. The disease is caused by variants affecting the gene represented in this entry.