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Protein

Myozenin-2

Gene

MYOZ2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000172399-MONOMER.

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

HGNCiHGNC:1330. MYOZ2.

Subcellular locationi

GO - Cellular componenti

  • actin cytoskeleton Source: GO_Central
  • sarcomere Source: UniProtKB
  • Z disc Source: BHF-UCL
Complete GO annotation...

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 rs199476398dbSNPEnsembl.1
Natural variantiVAR_065470246I → M in CMH16. 1 PublicationCorresponds to variant rs140126678dbSNPEnsembl.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi51778.
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.

2D gel databases

UCD-2DPAGEQ9NPC6.

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

WithEntry#Exp.IntActNotes
ACTN1P128147EBI-746712,EBI-351710
ACTN2P356096EBI-746712,EBI-77797
ACTN4O437079EBI-746712,EBI-351526
DRICH1Q6PGQ13EBI-746712,EBI-10253641
RBPMSQ930623EBI-746712,EBI-740322
TCAPO152732EBI-746712,EBI-954089

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. 14 interactors.
MINTiMINT-1453639.
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

InterProiIPR008438. MYOZ.
[Graphical view]
PANTHERiPTHR15941. PTHR15941. 1 hit.
PfamiPF05556. Calsarcin. 1 hit.
[Graphical view]

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 rs199476398dbSNPEnsembl.1
Natural variantiVAR_065470246I → M in CMH16. 1 PublicationCorresponds to variant rs140126678dbSNPEnsembl.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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9NPC6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119726. 13 interactors.
IntActiQ9NPC6. 14 interactors.
MINTiMINT-1453639.
STRINGi9606.ENSP00000306997.

PTM databases

iPTMnetiQ9NPC6.
PhosphoSitePlusiQ9NPC6.

Polymorphism and mutation databases

BioMutaiMYOZ2.
DMDMi74761638.

2D gel databases

UCD-2DPAGEQ9NPC6.

Proteomic databases

PaxDbiQ9NPC6.
PeptideAtlasiQ9NPC6.
PRIDEiQ9NPC6.

Protocols and materials databases

DNASUi51778.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51778.
DisGeNETi51778.
GeneCardsiMYOZ2.
GeneReviewsiMYOZ2.
H-InvDBHIX0004465.
HGNCiHGNC:1330. MYOZ2.
HPAiHPA035763.
HPA035764.
MalaCardsiMYOZ2.
MIMi605602. gene.
613838. phenotype.
neXtProtiNX_Q9NPC6.
OpenTargetsiENSG00000172399.
Orphaneti155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBiPA31421.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000172399-MONOMER.

Miscellaneous databases

ChiTaRSiMYOZ2. human.
GeneWikiiMYOZ2.
GenomeRNAii51778.
PROiQ9NPC6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172399.
CleanExiHS_MYOZ2.
GenevisibleiQ9NPC6. HS.

Family and domain databases

InterProiIPR008438. MYOZ.
[Graphical view]
PANTHERiPTHR15941. PTHR15941. 1 hit.
PfamiPF05556. Calsarcin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMYOZ2_HUMAN
AccessioniPrimary (citable) accession number: Q9NPC6
Secondary accession number(s): O43415, Q9HB92
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: October 1, 2000
Last modified: November 30, 2016
This is version 125 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.