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Protein

Myozenin-2

Gene

MYOZ2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  • actin binding Source: GO_Central
  • FATZ binding Source: GO_Central
  • protein phosphatase 2B binding Source: UniProtKB
  • telethonin binding Source: BHF-UCL

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Myozenin-2
Alternative name(s):
Calsarcin-1
FATZ-related protein 2
Gene namesi
Name:MYOZ2Imported
Synonyms:C4orf5Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000172399.5
HGNCiHGNC:1330 MYOZ2
MIMi605602 gene
neXtProtiNX_Q9NPC6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, familial hypertrophic 16 (CMH16)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613838
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06546948S → P in CMH16. 1 PublicationCorresponds to variant dbSNP:rs199476398EnsemblClinVar.1
Natural variantiVAR_065470246I → M in CMH16. 1 PublicationCorresponds to variant dbSNP:rs140126678EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi51778
GeneReviewsiMYOZ2
MalaCardsiMYOZ2
MIMi613838 phenotype
OpenTargetsiENSG00000172399
Orphaneti155 Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA31421

Polymorphism and mutation databases

BioMutaiMYOZ2
DMDMi74761638

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001110991 – 264Myozenin-2Add BLAST264

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei53Omega-N-methylarginineBy similarity1
Modified residuei101PhosphoserineBy similarity1
Modified residuei107PhosphothreonineBy similarity1
Modified residuei111PhosphothreonineBy similarity1
Modified residuei116PhosphoserineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

PaxDbiQ9NPC6
PeptideAtlasiQ9NPC6
PRIDEiQ9NPC6
ProteomicsDBi81967

2D gel databases

UCD-2DPAGEiQ9NPC6

PTM databases

iPTMnetiQ9NPC6
PhosphoSitePlusiQ9NPC6

Expressioni

Tissue specificityi

Expressed specifically in heart and skeletal muscle.2 Publications

Gene expression databases

BgeeiENSG00000172399
CleanExiHS_MYOZ2
GenevisibleiQ9NPC6 HS

Organism-specific databases

HPAiHPA035763
HPA035764

Interactioni

Subunit structurei

Interacts via its C-terminus with spectrin repeats 3 and 4 of ACTN2. Interacts with ACTN1, LDB3, MYOT and PPP3CA.3 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • actin binding Source: GO_Central
  • FATZ binding Source: GO_Central
  • protein phosphatase 2B binding Source: UniProtKB
  • telethonin binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi119726, 13 interactors
IntActiQ9NPC6, 17 interactors
STRINGi9606.ENSP00000306997

Structurei

3D structure databases

ProteinModelPortaliQ9NPC6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi211 – 214Poly-LeuSequence analysis4

Sequence similaritiesi

Belongs to the myozenin family.Curated

Phylogenomic databases

eggNOGiENOG410IKXK Eukaryota
ENOG410ZK6W LUCA
GeneTreeiENSGT00530000063184
HOGENOMiHOG000030910
HOVERGENiHBG071289
InParanoidiQ9NPC6
OMAiDPRFMAF
OrthoDBiEOG091G0GA9
PhylomeDBiQ9NPC6
TreeFamiTF331748

Family and domain databases

InterProiView protein in InterPro
IPR008438 MYOZ
PANTHERiPTHR15941 PTHR15941, 1 hit
PfamiView protein in Pfam
PF05556 Calsarcin, 1 hit

Sequencei

Sequence statusi: Complete.

Q9NPC6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLSHNTMMKQ RKQQATAIMK EVHGNDVDGM DLGKKVSIPR DIMLEELSHL
60 70 80 90 100
SNRGARLFKM RQRRSDKYTF ENFQYQSRAQ INHSIAMQNG KVDGSNLEGG
110 120 130 140 150
SQQAPLTPPN TPDPRSPPNP DNIAPGYSGP LKEIPPEKFN TTAVPKYYQS
160 170 180 190 200
PWEQAISNDP ELLEALYPKL FKPEGKAELP DYRSFNRVAT PFGGFEKASR
210 220 230 240 250
MVKFKVPDFE LLLLTDPRFM SFVNPLSGRR SFNRTPKGWI SENIPIVITT
260
EPTDDTTVPE SEDL
Length:264
Mass (Da):29,898
Last modified:October 1, 2000 - v1
Checksum:i8636AEF79A6F8916
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti129G → R in AAC19160 (Ref. 6) Curated1
Sequence conflicti186N → T in AAG13932 (PubMed:11161785).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06546948S → P in CMH16. 1 PublicationCorresponds to variant dbSNP:rs199476398EnsemblClinVar.1
Natural variantiVAR_065470246I → M in CMH16. 1 PublicationCorresponds to variant dbSNP:rs140126678EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF249873 mRNA Translation: AAF63623.1
AF267997, AF267992, AF267994 Genomic DNA Translation: AAG13932.1
AY013295 mRNA Translation: AAG38938.1
AJ252149 mRNA Translation: CAB92965.1
BT007214 mRNA Translation: AAP35878.1
BC005195 mRNA Translation: AAH05195.1
BC017402 mRNA Translation: AAH17402.1
BC020932 mRNA Translation: AAH20932.1
AF007160 mRNA Translation: AAC19160.1
CCDSiCCDS3711.1
RefSeqiNP_057683.1, NM_016599.4
UniGeneiHs.732122

Genome annotation databases

EnsembliENST00000307128; ENSP00000306997; ENSG00000172399
GeneIDi51778
KEGGihsa:51778
UCSCiuc003icp.4 human

Similar proteinsi

Entry informationi

Entry nameiMYOZ2_HUMAN
AccessioniPrimary (citable) accession number: Q9NPC6
Secondary accession number(s): O43415, Q9HB92
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: October 1, 2000
Last modified: July 18, 2018
This is version 134 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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