MYOZ2

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
Inferred from biological aspect of ancestorⁱ
- 21873635
FATZ binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
protein phosphatase 2B binding
Source: UniProtKB
Non-traceable author statementⁱ
- 11114196
telethonin binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 15582318

View the complete GO annotation on QuickGO ...

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Myozenin-2 Alternative name(s): Calsarcin-1 FATZ-related protein 2
Gene namesⁱ	Name:MYOZ2Imported Synonyms:C4orf5Imported
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 4

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000172399.5
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:1330 MYOZ2
MIMⁱ	605602 gene
neXtProtⁱ	NX_Q9NPC6

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.

Keywords - Diseaseⁱ

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	51778
GeneReviewsⁱ	MYOZ2
MalaCards human disease database More...MalaCardsⁱ	MYOZ2
MIMⁱ	613838 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000172399
Orphanetⁱ	155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBⁱ	PA31421

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	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, Phosphoprotein

Proteomic databases

PaxDbⁱ	Q9NPC6
PeptideAtlas More...PeptideAtlasⁱ	Q9NPC6
PRIDEⁱ	Q9NPC6
ProteomicsDBⁱ	81967

2D gel databases

UCD-2DPAGEⁱ	Q9NPC6

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 126 organ(s), highest expression level in heart right ventricle
CleanExⁱ	HS_MYOZ2
Genevisibleⁱ	Q9NPC6 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA035763 HPA035764

HPAⁱ

HPA035763
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

With	Entry	#Exp.	IntAct
ACTN1	P12814	10	EBI-746712,EBI-351710
ACTN2	P35609	12	EBI-746712,EBI-77797
ACTN4	O43707	15	EBI-746712,EBI-351526
DRICH1	Q6PGQ1	3	EBI-746712,EBI-10253641
RBPMS	Q93062	3	EBI-746712,EBI-740322
TCAP	O15273	2	EBI-746712,EBI-954089

GO - Molecular functionⁱ

actin binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
FATZ binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
protein phosphatase 2B binding
Source: UniProtKB
Non-traceable author statementⁱ
- 11114196
telethonin binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 15582318

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	119726, 13 interactors
IntActⁱ	Q9NPC6, 17 interactors
STRINGⁱ	9606.ENSP00000306997

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9NPC6
ModBaseⁱ	Search...
MobiDBⁱ	Search...

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	ENOG410IKXK Eukaryota ENOG410ZK6W LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00530000063184
HOGENOMⁱ	HOG000030910
HOVERGENⁱ	HBG071289
InParanoidⁱ	Q9NPC6
OMAⁱ	DPRFMAF
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0GA9
PhylomeDBⁱ	Q9NPC6
TreeFamⁱ	TF331748

Family and domain databases

InterProⁱ	View protein in InterPro IPR008438 MYOZ
PANTHERⁱ	PTHR15941 PTHR15941, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF05556 Calsarcin, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Q9NPC6-1 [UniParc]FASTA Add 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 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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS3711.1
NCBI Reference Sequences More...RefSeqⁱ	NP_057683.1, NM_016599.4
UniGeneⁱ	Hs.732122

Genome annotation databases

Ensemblⁱ	ENST00000307128; ENSP00000306997; ENSG00000172399
GeneIDⁱ	51778
KEGGⁱ	hsa:51778
UCSC genome browser More...UCSCⁱ	uc003icp.4 human

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9NPC6	Myozenin-2		BOVIN		264	UniRef90_Q9NPC6
Myozenin-2		PONAB		264
myozenin-2		TURTR		277
Myozenin-2		wild yak		274
myozenin-2		Yangtze finless porpoise		264
+83

Protein	Similar proteins		Species	Score	Length	Source
Q9NPC6	Myozenin-2		BOVIN		264	UniRef50_Q9NPC6
Myozenin-2		PONAB		264
myozenin-2		TURTR		277
Myozenin-2		wild yak		274
myozenin-2		BALAS		264
+255

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
UniGeneⁱ	Hs.732122

3D structure databases

ProteinModelPortalⁱ	Q9NPC6
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	119726, 13 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

UCD-2DPAGEⁱ

Q9NPC6

Proteomic databases

PaxDbⁱ	Q9NPC6
PeptideAtlasⁱ	Q9NPC6
PRIDEⁱ	Q9NPC6
ProteomicsDBⁱ	81967

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	51778
Structural Biology Knowledgebase	Search...

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
H-InvDBⁱ	HIX0004465
HGNCⁱ	HGNC:1330 MYOZ2
HPAⁱ	HPA035763 HPA035764
MalaCardsⁱ	MYOZ2
MIMⁱ	605602 gene 613838 phenotype
neXtProtⁱ	NX_Q9NPC6
OpenTargetsⁱ	ENSG00000172399
Orphanetⁱ	155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBⁱ	PA31421
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IKXK Eukaryota ENOG410ZK6W LUCA
GeneTreeⁱ	ENSGT00530000063184
HOGENOMⁱ	HOG000030910
HOVERGENⁱ	HBG071289
InParanoidⁱ	Q9NPC6
OMAⁱ	DPRFMAF
OrthoDBⁱ	EOG091G0GA9
PhylomeDBⁱ	Q9NPC6
TreeFamⁱ	TF331748

Miscellaneous databases

ChiTaRSⁱ	MYOZ2 human
GeneWikiⁱ	MYOZ2
GenomeRNAiⁱ	51778
Protein Ontology More...PROⁱ	PR:Q9NPC6
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000172399 Expressed in 126 organ(s), highest expression level in heart right ventricle
CleanExⁱ	HS_MYOZ2
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...

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:	November 7, 2018
	This is version 136 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

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
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

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q9NPC6 (MYOZ2_HUMAN)

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Myozenin-2

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Other locations

Cytoskeleton

Other locations

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

2D gel databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

2D gel databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ