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Q9NPC6 (MYOZ2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myozenin-2
Alternative name(s):
Calsarcin-1
FATZ-related protein 2
Gene names
Name:MYOZ2
Synonyms:C4orf5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length264 AA.
Sequence statusComplete.
Protein existenceEvidence 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

CytoplasmmyofibrilsarcomereZ 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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

TCAPO152732EBI-746712,EBI-954089

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 264264Myozenin-2
PRO_0000111099

Regions

Compositional bias211 – 2144Poly-Leu

Amino acid modifications

Modified residue1111Phosphothreonine By similarity

Natural variations

Natural variant481S → P in CMH16. Ref.9
VAR_065469
Natural variant2461I → M in CMH16. Ref.9
Corresponds to variant rs140126678 [ dbSNP | Ensembl ].
VAR_065470

Experimental info

Sequence conflict1291G → R in AAC19160. Ref.6
Sequence conflict1861N → T in AAG13932. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9NPC6 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 8636AEF79A6F8916

FASTA26429,898
        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 

« Hide

References

« Hide '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.
RefSeqNP_057683.1. NM_016599.4.
UniGeneHs.732122.

3D structure databases

ProteinModelPortalQ9NPC6.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119726. 6 interactions.
IntActQ9NPC6. 8 interactions.
MINTMINT-1453639.
STRING9606.ENSP00000306997.

PTM databases

PhosphoSiteQ9NPC6.

Polymorphism databases

DMDM74761638.

2D gel databases

UCD-2DPAGEQ9NPC6.

Proteomic databases

PaxDbQ9NPC6.
PRIDEQ9NPC6.

Protocols and materials databases

DNASU51778.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000307128; ENSP00000306997; ENSG00000172399.
GeneID51778.
KEGGhsa:51778.
UCSCuc003icp.4. human.

Organism-specific databases

CTD51778.
GeneCardsGC04P120056.
H-InvDBHIX0004465.
HGNCHGNC:1330. MYOZ2.
HPAHPA035763.
HPA035764.
MIM605602. gene.
613838. phenotype.
neXtProtNX_Q9NPC6.
Orphanet155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBPA31421.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42003.
HOGENOMHOG000030910.
HOVERGENHBG071289.
InParanoidQ9NPC6.
OMADPRFMAF.
OrthoDBEOG7NGQCH.
PhylomeDBQ9NPC6.
TreeFamTF331748.

Gene expression databases

BgeeQ9NPC6.
CleanExHS_MYOZ2.
GenevestigatorQ9NPC6.

Family and domain databases

InterProIPR008438. MYOZ.
[Graphical view]
PANTHERPTHR15941. PTHR15941. 1 hit.
PfamPF05556. Calsarcin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMYOZ2. human.
GeneWikiMYOZ2.
GenomeRNAi51778.
NextBio55908.
PROQ9NPC6.
SOURCESearch...

Entry information

Entry nameMYOZ2_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 102 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM