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Q9NPC6

- MYOZ2_HUMAN

UniProt

Q9NPC6 - MYOZ2_HUMAN

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Protein

Myozenin-2

Gene

MYOZ2

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. protein phosphatase 2B binding Source: UniProtKB
  2. telethonin binding Source: BHF-UCL
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:1330. MYOZ2.

Subcellular locationi

CytoplasmmyofibrilsarcomereZ line By similarity
Note: Colocalizes with ACTN1 and PPP3CA at the Z-line of heart and skeletal muscle.By similarity

GO - Cellular componenti

  1. actin cytoskeleton Source: Ensembl
  2. sarcomere Source: UniProtKB
  3. Z disc Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481S → P in CMH16. 1 Publication
VAR_065469
Natural varianti246 – 2461I → M in CMH16. 1 Publication
Corresponds to variant rs140126678 [ dbSNP | Ensembl ].
VAR_065470

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi613838. phenotype.
Orphaneti155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBiPA31421.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 264264Myozenin-2PRO_0000111099Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei111 – 1111PhosphothreonineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9NPC6.
PaxDbiQ9NPC6.
PRIDEiQ9NPC6.

2D gel databases

UCD-2DPAGEQ9NPC6.

PTM databases

PhosphoSiteiQ9NPC6.

Expressioni

Tissue specificityi

Expressed specifically in heart and skeletal muscle.By similarity2 Publications

Gene expression databases

BgeeiQ9NPC6.
CleanExiHS_MYOZ2.
GenevestigatoriQ9NPC6.

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
TCAPO152732EBI-746712,EBI-954089

Protein-protein interaction databases

BioGridi119726. 6 interactions.
IntActiQ9NPC6. 9 interactions.
MINTiMINT-1453639.
STRINGi9606.ENSP00000306997.

Structurei

3D structure databases

ProteinModelPortaliQ9NPC6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi211 – 2144Poly-LeuSequence Analysis

Sequence similaritiesi

Belongs to the myozenin family.Curated

Phylogenomic databases

eggNOGiNOG42003.
GeneTreeiENSGT00530000063184.
HOGENOMiHOG000030910.
HOVERGENiHBG071289.
InParanoidiQ9NPC6.
OMAiDPRFMAF.
OrthoDBiEOG7NGQCH.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti129 – 1291G → R in AAC19160. 1 PublicationCurated
Sequence conflicti186 – 1861N → T in AAG13932. (PubMed:11161785)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481S → P in CMH16. 1 Publication
VAR_065469
Natural varianti246 – 2461I → M in CMH16. 1 Publication
Corresponds to variant rs140126678 [ dbSNP | Ensembl ].
VAR_065470

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.

Polymorphism databases

DMDMi74761638.

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. 6 interactions.
IntActi Q9NPC6. 9 interactions.
MINTi MINT-1453639.
STRINGi 9606.ENSP00000306997.

PTM databases

PhosphoSitei Q9NPC6.

Polymorphism databases

DMDMi 74761638.

2D gel databases

UCD-2DPAGE Q9NPC6.

Proteomic databases

MaxQBi Q9NPC6.
PaxDbi Q9NPC6.
PRIDEi Q9NPC6.

Protocols and materials databases

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.
GeneCardsi GC04P120056.
GeneReviewsi MYOZ2.
H-InvDB HIX0004465.
HGNCi HGNC:1330. MYOZ2.
HPAi HPA035763.
HPA035764.
MIMi 605602. gene.
613838. phenotype.
neXtProti NX_Q9NPC6.
Orphaneti 155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBi PA31421.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG42003.
GeneTreei ENSGT00530000063184.
HOGENOMi HOG000030910.
HOVERGENi HBG071289.
InParanoidi Q9NPC6.
OMAi DPRFMAF.
OrthoDBi EOG7NGQCH.
PhylomeDBi Q9NPC6.
TreeFami TF331748.

Miscellaneous databases

ChiTaRSi MYOZ2. human.
GeneWikii MYOZ2.
GenomeRNAii 51778.
NextBioi 55908.
PROi Q9NPC6.
SOURCEi Search...

Gene expression databases

Bgeei Q9NPC6.
CleanExi HS_MYOZ2.
Genevestigatori Q9NPC6.

Family and domain databases

InterProi IPR008438. MYOZ.
[Graphical view ]
PANTHERi PTHR15941. PTHR15941. 1 hit.
Pfami PF05556. Calsarcin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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: Heart1 Publication.
  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: Heart1 Publication.
  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: LiverImported and Skeletal muscleImported.
  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: BrainImported.
  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. Cited for: VARIANTS CMH16 PRO-48 AND MET-246.

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: October 29, 2014
This is version 107 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

External Data

Dasty 3