MYOZ2

Protein identityUniProt · HPA

UniProt accession

Q9NPC6

Gene

MYOZ2

Ensembl

ENSG00000172399

Chromosome

4

Canonical length

264 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

264 residues, UniProt reviewed canonical sequence.

>Q9NPC6|MYOZ2
     1  MLSHNTMMKQ RKQQATAIMK EVHGNDVDGM DLGKKVSIPR DIMLEELSHL SNRGARLFKM
    61  RQRRSDKYTF ENFQYQSRAQ INHSIAMQNG KVDGSNLEGG SQQAPLTPPN TPDPRSPPNP
   121  DNIAPGYSGP LKEIPPEKFN TTAVPKYYQS PWEQAISNDP ELLEALYPKL FKPEGKAELP
   181  DYRSFNRVAT PFGGFEKASR MVKFKVPDFE LLLLTDPRFM SFVNPLSGRR SFNRTPKGWI
   241  SENIPIVITT EPTDDTTVPE SEDL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYOZ2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.6

Highest tissue expression

722 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYOZ2.

Disease | AllUniProt

Conditions MYOZ2 is implicated in, by any mechanism.

• Cardiomyopathy, familial hypertrophic, 16 (CMH16) MIM:613838

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 306 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypertrophic cardiomyopathy 16

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.07

gnomAD pLI

0

gnomAD missense Z

0.54

DepMap mean gene effect

-0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of calcineurin-NFAT signaling cascade
• negative regulation of transcription by RNA polymerase II
• sarcomere organization
• skeletal muscle fiber adaptation
• skeletal muscle tissue development

Molecular functions

• actin binding
• FATZ binding
• protein phosphatase 2B binding
• telethonin binding

Cellular components

• actin cytoskeleton
• sarcomere
• Z disc

Protein domainsUniProt · Pfam · InterPro

• Myozenin
• Calcineurin-binding protein (Calsarcin)

KeywordsUniProt

• Cardiomyopathy
• Cytoplasm
• Methylation
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of MYOZ2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ACTN1
• LDB3
• MYOT
• PPP3CA
• TCAP
• ACTN2
• ACTN4