UniProtKB - Q9NPC6 (MYOZ2_HUMAN)
Protein
Myozenin-2
Gene
MYOZ2
Organism
Homo sapiens (Human)
Status
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
- negative regulation of calcineurin-NFAT signaling cascade Source: BHF-UCL
- negative regulation of transcription by RNA polymerase II Source: BHF-UCL
- sarcomere organization Source: BHF-UCL
- skeletal muscle fiber adaptation Source: BHF-UCL
- skeletal muscle tissue development Source: BHF-UCL
Enzyme and pathway databases
PathwayCommonsi | Q9NPC6 |
Names & Taxonomyi
Protein namesi | Recommended name: Myozenin-2Alternative name(s): Calsarcin-1 FATZ-related protein 2 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000172399.5 |
HGNCi | HGNC:1330, MYOZ2 |
MIMi | 605602, gene |
neXtProti | NX_Q9NPC6 |
Subcellular locationi
Other locations
- Z line By similarity
Note: Colocalizes with ACTN1 and PPP3CA at the Z-line of heart and skeletal muscle.By similarity
Cytoskeleton
- actin cytoskeleton Source: GO_Central
Other locations
Keywords - Cellular componenti
CytoplasmPathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065469 | 48 | S → P in CMH16. 1 PublicationCorresponds to variant dbSNP:rs199476398EnsemblClinVar. | 1 | |
Natural variantiVAR_065470 | 246 | I → M in CMH16. 1 PublicationCorresponds to variant dbSNP:rs140126678EnsemblClinVar. | 1 |
Keywords - Diseasei
Cardiomyopathy, Disease mutationOrganism-specific databases
DisGeNETi | 51778 |
GeneReviewsi | MYOZ2 |
MalaCardsi | MYOZ2 |
MIMi | 613838, phenotype |
OpenTargetsi | ENSG00000172399 |
Orphaneti | 155, NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy |
PharmGKBi | PA31421 |
Miscellaneous databases
Pharosi | Q9NPC6, Tbio |
Polymorphism and mutation databases
BioMutai | MYOZ2 |
DMDMi | 74761638 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000111099 | 1 – 264 | Myozenin-2Add BLAST | 264 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 53 | Omega-N-methylarginineBy similarity | 1 | |
Modified residuei | 101 | PhosphoserineBy similarity | 1 | |
Modified residuei | 107 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 111 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 116 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Methylation, PhosphoproteinProteomic databases
MassIVEi | Q9NPC6 |
PaxDbi | Q9NPC6 |
PeptideAtlasi | Q9NPC6 |
PRIDEi | Q9NPC6 |
ProteomicsDBi | 81967 |
2D gel databases
UCD-2DPAGEi | Q9NPC6 |
PTM databases
iPTMneti | Q9NPC6 |
PhosphoSitePlusi | Q9NPC6 |
Expressioni
Tissue specificityi
Expressed specifically in heart and skeletal muscle.2 Publications
Gene expression databases
Bgeei | ENSG00000172399, Expressed in heart right ventricle and 141 other tissues |
Genevisiblei | Q9NPC6, HS |
Organism-specific databases
HPAi | ENSG00000172399, Group enriched (heart muscle, skeletal muscle) |
Interactioni
Subunit structurei
Interacts via its C-terminus with spectrin repeats 3 and 4 of ACTN2.
Interacts with ACTN1, LDB3, MYOT and PPP3CA.
3 PublicationsBinary interactionsi
Hide detailsQ9NPC6
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
BioGRIDi | 119726, 16 interactors |
IntActi | Q9NPC6, 17 interactors |
STRINGi | 9606.ENSP00000306997 |
Miscellaneous databases
RNActi | Q9NPC6, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 211 – 214 | Poly-LeuSequence analysis | 4 |
Sequence similaritiesi
Belongs to the myozenin family.Curated
Phylogenomic databases
eggNOGi | ENOG502QVA2, Eukaryota |
GeneTreei | ENSGT00950000183027 |
HOGENOMi | CLU_071316_1_1_1 |
InParanoidi | Q9NPC6 |
OMAi | QINHNLA |
OrthoDBi | 979261at2759 |
PhylomeDBi | Q9NPC6 |
TreeFami | TF331748 |
Family and domain databases
InterProi | View protein in InterPro IPR008438, MYOZ |
PANTHERi | PTHR15941, PTHR15941, 1 hit |
Pfami | View protein in Pfam PF05556, Calsarcin, 1 hit |
i Sequence
Sequence statusi: Complete.
Q9NPC6-1 [UniParc]FASTAAdd to basket
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 129 | G → R in AAC19160 (Ref. 6) Curated | 1 | |
Sequence conflicti | 186 | N → T in AAG13932 (PubMed:11161785).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065469 | 48 | S → P in CMH16. 1 PublicationCorresponds to variant dbSNP:rs199476398EnsemblClinVar. | 1 | |
Natural variantiVAR_065470 | 246 | I → 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 |
CCDSi | CCDS3711.1 |
RefSeqi | NP_057683.1, NM_016599.4 |
Genome annotation databases
Ensembli | ENST00000307128; ENSP00000306997; ENSG00000172399 |
GeneIDi | 51778 |
KEGGi | hsa:51778 |
UCSCi | uc003icp.4, human |
Similar proteinsi
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 |
CCDSi | CCDS3711.1 |
RefSeqi | NP_057683.1, NM_016599.4 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 119726, 16 interactors |
IntActi | Q9NPC6, 17 interactors |
STRINGi | 9606.ENSP00000306997 |
PTM databases
iPTMneti | Q9NPC6 |
PhosphoSitePlusi | Q9NPC6 |
Polymorphism and mutation databases
BioMutai | MYOZ2 |
DMDMi | 74761638 |
2D gel databases
UCD-2DPAGEi | Q9NPC6 |
Proteomic databases
MassIVEi | Q9NPC6 |
PaxDbi | Q9NPC6 |
PeptideAtlasi | Q9NPC6 |
PRIDEi | Q9NPC6 |
ProteomicsDBi | 81967 |
Protocols and materials databases
Antibodypediai | 26655, 179 antibodies |
DNASUi | 51778 |
Genome annotation databases
Ensembli | ENST00000307128; ENSP00000306997; ENSG00000172399 |
GeneIDi | 51778 |
KEGGi | hsa:51778 |
UCSCi | uc003icp.4, human |
Organism-specific databases
CTDi | 51778 |
DisGeNETi | 51778 |
EuPathDBi | HostDB:ENSG00000172399.5 |
GeneCardsi | MYOZ2 |
GeneReviewsi | MYOZ2 |
HGNCi | HGNC:1330, MYOZ2 |
HPAi | ENSG00000172399, Group enriched (heart muscle, skeletal muscle) |
MalaCardsi | MYOZ2 |
MIMi | 605602, gene 613838, phenotype |
neXtProti | NX_Q9NPC6 |
OpenTargetsi | ENSG00000172399 |
Orphaneti | 155, NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy |
PharmGKBi | PA31421 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QVA2, Eukaryota |
GeneTreei | ENSGT00950000183027 |
HOGENOMi | CLU_071316_1_1_1 |
InParanoidi | Q9NPC6 |
OMAi | QINHNLA |
OrthoDBi | 979261at2759 |
PhylomeDBi | Q9NPC6 |
TreeFami | TF331748 |
Enzyme and pathway databases
PathwayCommonsi | Q9NPC6 |
Miscellaneous databases
BioGRID-ORCSi | 51778, 1 hit in 845 CRISPR screens |
ChiTaRSi | MYOZ2, human |
GeneWikii | MYOZ2 |
GenomeRNAii | 51778 |
Pharosi | Q9NPC6, Tbio |
PROi | PR:Q9NPC6 |
RNActi | Q9NPC6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000172399, Expressed in heart right ventricle and 141 other tissues |
Genevisiblei | Q9NPC6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR008438, MYOZ |
PANTHERi | PTHR15941, PTHR15941, 1 hit |
Pfami | View protein in Pfam PF05556, Calsarcin, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MYOZ2_HUMAN | |
Accessioni | Q9NPC6Primary (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: | December 2, 2020 | |
This is version 151 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations