Q9NPC6 (MYOZ2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Myozenin-2

Alternative name(s):
Calsarcin-1
FATZ-related protein 2

Gene names

Name:	MYOZ2
Synonyms:	C4orf5

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	264 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.2
Subunit structure	Interacts via its C-terminus with spectrin repeats 3 and 4 of ACTN2. Interacts with ACTN1, LDB3, MYOT and PPP3CA. Ref.1 Ref.2 Ref.7 Ref.8
Subcellular location	Cytoplasm › myofibril › sarcomere › Z line By similarity. Note: Colocalizes with ACTN1 and PPP3CA at the Z-line of heart and skeletal muscle By similarity.
Tissue specificity	Expressed specifically in heart and skeletal muscle. Ref.1 Ref.2 UniProtKB Q9JJW5
Involvement in disease	Cardiomyopathy, familial hypertrophic 16 (CMH16) [MIM:613838]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9
Sequence similarities	Belongs to the myozenin family.

Ontologies

Keywords
Cellular component	Cytoplasm
Disease	Cardiomyopathy Disease mutation
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	Z disc Non-traceable author statement PubMed 15582318. Source: BHF-UCL actin cytoskeleton Inferred from electronic annotation. Source: Compara
Molecular_function	protein phosphatase 2B binding Non-traceable author statement Ref.2. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ACTN4	O43707	2	EBI-746712,EBI-351526

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 264	264	Myozenin-2		PRO_0000111099
Regions
	Compositional bias	211 – 214	4	Poly-Leu
Amino acid modifications
	Modified residue	111	1	Phosphothreonine By similarity
Natural variations
	Natural variant	48	1	S → P in CMH16. Ref.9		VAR_065469
	Natural variant	246	1	I → M in CMH16. Ref.9		VAR_065470
Experimental info
	Sequence conflict	129	1	G → R in AAC19160. Ref.6
	Sequence conflict	186	1	N → T in AAG13932. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9NPC6 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 8636AEF79A6F8916	FASTA	264	29,898
	10 20 30 40 50 60 MLSHNTMMKQ RKQQATAIMK EVHGNDVDGM DLGKKVSIPR DIMLEELSHL SNRGARLFKM 70 80 90 100 110 120 RQRRSDKYTF ENFQYQSRAQ INHSIAMQNG KVDGSNLEGG SQQAPLTPPN TPDPRSPPNP 130 140 150 160 170 180 DNIAPGYSGP LKEIPPEKFN TTAVPKYYQS PWEQAISNDP ELLEALYPKL FKPEGKAELP 190 200 210 220 230 240 DYRSFNRVAT PFGGFEKASR MVKFKVPDFE LLLLTDPRFM SFVNPLSGRR SFNRTPKGWI 250 260 SENIPIVITT EPTDDTTVPE SEDL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of a novel gene (C4orf5) located on human chromosome 4q with specific expression in cardiac and skeletal muscle." Ahmad F., Gonzalez O., Ramagli L., Xu J., Siciliano M.J., Bachinski L.L., Roberts R. Genomics 70:347-353(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY. Tissue: Heart.
[2]	"Calsarcins, a novel family of sarcomeric calcineurin-binding proteins." Frey N., Richardson J.A., Olson E.N. Proc. Natl. Acad. Sci. U.S.A. 97:14632-14637(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH ACTN1; ACTN2 AND PPP3CA, TISSUE SPECIFICITY. Tissue: Heart.
[3]	"Full length sequencing of some human and murine muscular transcripts (Telethon Italy project B41)." Ievolella C., Scannapieco P., Lanfranchi G. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skeletal muscle.
[4]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Liver and Skeletal muscle.
[6]	Yu W., Sarginson J., Gibbs R.A. Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 129-264. Tissue: Brain.
[7]	"Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins." Frey N., Olson E.N. J. Biol. Chem. 277:13998-14004(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH LDB3.
[8]	"The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins." Gontier Y., Taivainen A., Fontao L., Sonnenberg A., van der Flier A., Carpen O., Faulkner G., Borradori L. J. Cell Sci. 118:3739-3749(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH MYOT.
[9]	"Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy." Osio A., Tan L., Chen S.N., Lombardi R., Nagueh S.F., Shete S., Roberts R., Willerson J.T., Marian A.J. Circ. Res. 100:766-768(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMH16 PRO-48 AND MET-246.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00387020.
RefSeq	NP_057683.1. NM_016599.4.
UniGene	Hs.732122.
3D structure databases
ProteinModelPortal	Q9NPC6.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NPC6. 7 interactions.
MINT	MINT-1453639.
STRING	9606.ENSP00000306997.
PTM databases
PhosphoSite	Q9NPC6.
Polymorphism databases
DMDM	74761638.
2D gel databases
UCD-2DPAGE	Q9NPC6.
Proteomic databases
PaxDb	Q9NPC6.
PRIDE	Q9NPC6.
Protocols and materials databases
DNASU	51778.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000307128; ENSP00000306997; ENSG00000172399.
GeneID	51778.
KEGG	hsa:51778.
UCSC	uc003icp.4. human.
Organism-specific databases
CTD	51778.
GeneCards	GC04P120056.
H-InvDB	HIX0004465.
HGNC	HGNC:1330. MYOZ2.
HPA	HPA035764.
MIM	605602. gene. 613838. phenotype.
neXtProt	NX_Q9NPC6.
Orphanet	155. Familial isolated hypertrophic cardiomyopathy.
PharmGKB	PA31421.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG42003.
HOGENOM	HOG000030910.
HOVERGEN	HBG071289.
InParanoid	Q9NPC6.
OMA	TDPRFMA.
OrthoDB	EOG42NJ1F.
PhylomeDB	Q9NPC6.
Gene expression databases
Bgee	Q9NPC6.
CleanEx	HS_MYOZ2.
Genevestigator	Q9NPC6.
GermOnline	ENSG00000172399. Homo sapiens.
Family and domain databases
InterPro	IPR008438. Calsarcin-bd. [Graphical view]
PANTHER	PTHR15941. PTHR15941. 1 hit.
Pfam	PF05556. Calsarcin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	MYOZ2. human.
GenomeRNAi	51778.
NextBio	55908.
SOURCE	Search...

Entry information

Entry name

MYOZ2_HUMAN

Accession

Primary (citable) accession number: Q9NPC6
Secondary accession number(s): O43415, Q9HB92

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 22, 2005
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 95 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.