MYOZ2_HUMAN
ID MYOZ2_HUMAN Reviewed; 264 AA.
AC Q9NPC6; O43415; Q9HB92;
DT 22-NOV-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Myozenin-2;
DE AltName: Full=Calsarcin-1;
DE AltName: Full=FATZ-related protein 2;
GN Name=MYOZ2 {ECO:0000312|HGNC:HGNC:1330};
GN Synonyms=C4orf5 {ECO:0000312|EMBL:AAF63623.1};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1] {ECO:0000305, ECO:0000312|EMBL:AAF63623.1}
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Heart {ECO:0000269|PubMed:11161785};
RX PubMed=11161785; DOI=10.1006/geno.2000.6399;
RA Ahmad F., Gonzalez O., Ramagli L., Xu J., Siciliano M.J., Bachinski L.L.,
RA Roberts R.;
RT "Identification and characterization of a novel gene (C4orf5) located on
RT human chromosome 4q with specific expression in cardiac and skeletal
RT muscle.";
RL Genomics 70:347-353(2000).
RN [2] {ECO:0000305, ECO:0000312|EMBL:AAG38938.1}
RP NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH ACTN1; ACTN2 AND PPP3CA, AND
RP TISSUE SPECIFICITY.
RC TISSUE=Heart {ECO:0000269|PubMed:11114196};
RX PubMed=11114196; DOI=10.1073/pnas.260501097;
RA Frey N., Richardson J.A., Olson E.N.;
RT "Calsarcins, a novel family of sarcomeric calcineurin-binding proteins.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:14632-14637(2000).
RN [3] {ECO:0000312|EMBL:CAB92965.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skeletal muscle;
RA Ievolella C., Scannapieco P., Lanfranchi G.;
RT "Full length sequencing of some human and murine muscular transcripts
RT (Telethon Italy project B41).";
RL Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
RN [4] {ECO:0000312|EMBL:CAB92965.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [5] {ECO:0000312|EMBL:AAH05195.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Liver {ECO:0000312|EMBL:AAH05195.1}, and
RC Skeletal muscle {ECO:0000312|EMBL:AAH17402.1};
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6] {ECO:0000312|EMBL:CAB92965.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 129-264.
RC TISSUE=Brain {ECO:0000312|EMBL:AAC19160.1};
RA Yu W., Sarginson J., Gibbs R.A.;
RL Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases.
RN [7] {ECO:0000305}
RP INTERACTION WITH LDB3.
RX PubMed=11842093; DOI=10.1074/jbc.m200712200;
RA Frey N., Olson E.N.;
RT "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin
RT family, interacts with multiple Z-disc proteins.";
RL J. Biol. Chem. 277:13998-14004(2002).
RN [8] {ECO:0000305}
RP INTERACTION WITH MYOT.
RX PubMed=16076904; DOI=10.1242/jcs.02484;
RA Gontier Y., Taivainen A., Fontao L., Sonnenberg A., van der Flier A.,
RA Carpen O., Faulkner G., Borradori L.;
RT "The Z-disc proteins myotilin and FATZ-1 interact with each other and are
RT connected to the sarcolemma via muscle-specific filamins.";
RL J. Cell Sci. 118:3739-3749(2005).
RN [9]
RP VARIANTS CMH16 PRO-48 AND MET-246.
RX PubMed=17347475; DOI=10.1161/01.res.0000263008.66799.aa;
RA Osio A., Tan L., Chen S.N., Lombardi R., Nagueh S.F., Shete S., Roberts R.,
RA Willerson J.T., Marian A.J.;
RT "Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.";
RL Circ. Res. 100:766-768(2007).
CC -!- FUNCTION: Myozenins may serve as intracellular binding proteins
CC involved in linking Z line proteins such as alpha-actinin, gamma-
CC filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin
CC signaling to the sarcomere. Plays an important role in the modulation
CC of calcineurin signaling. May play a role in myofibrillogenesis.
CC -!- SUBUNIT: Interacts via its C-terminus with spectrin repeats 3 and 4 of
CC ACTN2. Interacts with ACTN1, LDB3, MYOT and PPP3CA.
CC {ECO:0000269|PubMed:11114196, ECO:0000269|PubMed:11842093,
CC ECO:0000269|PubMed:16076904}.
CC -!- INTERACTION:
CC Q9NPC6; P12814: ACTN1; NbExp=11; IntAct=EBI-746712, EBI-351710;
CC Q9NPC6; P35609: ACTN2; NbExp=13; IntAct=EBI-746712, EBI-77797;
CC Q9NPC6; O43707: ACTN4; NbExp=16; IntAct=EBI-746712, EBI-351526;
CC Q9NPC6; Q6PGQ1: DRICH1; NbExp=3; IntAct=EBI-746712, EBI-10253641;
CC Q9NPC6; P22607: FGFR3; NbExp=3; IntAct=EBI-746712, EBI-348399;
CC Q9NPC6; Q14957: GRIN2C; NbExp=3; IntAct=EBI-746712, EBI-8285963;
CC Q9NPC6; P06396: GSN; NbExp=3; IntAct=EBI-746712, EBI-351506;
CC Q9NPC6; Q13064: MKRN3; NbExp=3; IntAct=EBI-746712, EBI-2340269;
CC Q9NPC6; Q93062: RBPMS; NbExp=3; IntAct=EBI-746712, EBI-740322;
CC Q9NPC6; O15273: TCAP; NbExp=2; IntAct=EBI-746712, EBI-954089;
CC Q9NPC6; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-746712, EBI-12040603;
CC Q9NPC6; Q9Y649; NbExp=3; IntAct=EBI-746712, EBI-25900580;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line
CC {ECO:0000250}. Note=Colocalizes with ACTN1 and PPP3CA at the Z-line of
CC heart and skeletal muscle. {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Expressed specifically in heart and skeletal
CC muscle. {ECO:0000269|PubMed:11114196, ECO:0000269|PubMed:11161785}.
CC -!- DISEASE: Cardiomyopathy, familial hypertrophic 16 (CMH16) [MIM:613838]:
CC A hereditary heart disorder characterized by ventricular hypertrophy,
CC which is usually asymmetric and often involves the interventricular
CC septum. The symptoms include dyspnea, syncope, collapse, palpitations,
CC and chest pain. They can be readily provoked by exercise. The disorder
CC has inter- and intrafamilial variability ranging from benign to
CC malignant forms with high risk of cardiac failure and sudden cardiac
CC death. {ECO:0000269|PubMed:17347475}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the myozenin family. {ECO:0000305}.
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DR EMBL; AF249873; AAF63623.1; -; mRNA.
DR EMBL; AF267997; AAG13932.1; -; Genomic_DNA.
DR EMBL; AF267992; AAG13932.1; JOINED; Genomic_DNA.
DR EMBL; AF267994; AAG13932.1; JOINED; Genomic_DNA.
DR EMBL; AY013295; AAG38938.1; -; mRNA.
DR EMBL; AJ252149; CAB92965.1; -; mRNA.
DR EMBL; BT007214; AAP35878.1; -; mRNA.
DR EMBL; BC005195; AAH05195.1; -; mRNA.
DR EMBL; BC017402; AAH17402.1; -; mRNA.
DR EMBL; BC020932; AAH20932.1; -; mRNA.
DR EMBL; AF007160; AAC19160.1; -; mRNA.
DR CCDS; CCDS3711.1; -.
DR RefSeq; NP_057683.1; NM_016599.4.
DR AlphaFoldDB; Q9NPC6; -.
DR BioGRID; 119726; 17.
DR IntAct; Q9NPC6; 21.
DR STRING; 9606.ENSP00000306997; -.
DR iPTMnet; Q9NPC6; -.
DR PhosphoSitePlus; Q9NPC6; -.
DR BioMuta; MYOZ2; -.
DR DMDM; 74761638; -.
DR UCD-2DPAGE; Q9NPC6; -.
DR MassIVE; Q9NPC6; -.
DR PaxDb; Q9NPC6; -.
DR PeptideAtlas; Q9NPC6; -.
DR PRIDE; Q9NPC6; -.
DR ProteomicsDB; 81967; -.
DR Antibodypedia; 26655; 190 antibodies from 25 providers.
DR DNASU; 51778; -.
DR Ensembl; ENST00000307128.6; ENSP00000306997.6; ENSG00000172399.6.
DR GeneID; 51778; -.
DR KEGG; hsa:51778; -.
DR MANE-Select; ENST00000307128.6; ENSP00000306997.6; NM_016599.5; NP_057683.1.
DR UCSC; uc003icp.4; human.
DR CTD; 51778; -.
DR DisGeNET; 51778; -.
DR GeneCards; MYOZ2; -.
DR GeneReviews; MYOZ2; -.
DR HGNC; HGNC:1330; MYOZ2.
DR HPA; ENSG00000172399; Tissue enhanced (heart muscle, skeletal muscle, tongue).
DR MalaCards; MYOZ2; -.
DR MIM; 605602; gene.
DR MIM; 613838; phenotype.
DR neXtProt; NX_Q9NPC6; -.
DR OpenTargets; ENSG00000172399; -.
DR Orphanet; 155; NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy.
DR PharmGKB; PA31421; -.
DR VEuPathDB; HostDB:ENSG00000172399; -.
DR eggNOG; ENOG502QVA2; Eukaryota.
DR GeneTree; ENSGT00950000183027; -.
DR HOGENOM; CLU_071316_1_1_1; -.
DR InParanoid; Q9NPC6; -.
DR OMA; YTFENFH; -.
DR OrthoDB; 979261at2759; -.
DR PhylomeDB; Q9NPC6; -.
DR TreeFam; TF331748; -.
DR PathwayCommons; Q9NPC6; -.
DR SignaLink; Q9NPC6; -.
DR BioGRID-ORCS; 51778; 9 hits in 1071 CRISPR screens.
DR ChiTaRS; MYOZ2; human.
DR GeneWiki; MYOZ2; -.
DR GenomeRNAi; 51778; -.
DR Pharos; Q9NPC6; Tbio.
DR PRO; PR:Q9NPC6; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9NPC6; protein.
DR Bgee; ENSG00000172399; Expressed in heart right ventricle and 111 other tissues.
DR Genevisible; Q9NPC6; HS.
DR GO; GO:0015629; C:actin cytoskeleton; IBA:GO_Central.
DR GO; GO:0030017; C:sarcomere; TAS:UniProtKB.
DR GO; GO:0030018; C:Z disc; ISS:BHF-UCL.
DR GO; GO:0003779; F:actin binding; IBA:GO_Central.
DR GO; GO:0051373; F:FATZ binding; IBA:GO_Central.
DR GO; GO:0030346; F:protein phosphatase 2B binding; NAS:UniProtKB.
DR GO; GO:0031433; F:telethonin binding; IPI:BHF-UCL.
DR GO; GO:0070885; P:negative regulation of calcineurin-NFAT signaling cascade; ISS:BHF-UCL.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0045214; P:sarcomere organization; ISS:BHF-UCL.
DR GO; GO:0043503; P:skeletal muscle fiber adaptation; ISS:BHF-UCL.
DR GO; GO:0007519; P:skeletal muscle tissue development; ISS:BHF-UCL.
DR InterPro; IPR008438; MYOZ.
DR PANTHER; PTHR15941; PTHR15941; 1.
DR Pfam; PF05556; Calsarcin; 1.
PE 1: Evidence at protein level;
KW Cardiomyopathy; Cytoplasm; Disease variant; Methylation; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..264
FT /note="Myozenin-2"
FT /id="PRO_0000111099"
FT REGION 90..135
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 90..106
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 107..124
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 53
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q9JJW5"
FT MOD_RES 101
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9JJW5"
FT MOD_RES 107
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q9JJW5"
FT MOD_RES 111
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q9JJW5"
FT MOD_RES 116
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9JJW5"
FT VARIANT 48
FT /note="S -> P (in CMH16; dbSNP:rs199476398)"
FT /evidence="ECO:0000269|PubMed:17347475"
FT /id="VAR_065469"
FT VARIANT 246
FT /note="I -> M (in CMH16; dbSNP:rs140126678)"
FT /evidence="ECO:0000269|PubMed:17347475"
FT /id="VAR_065470"
FT CONFLICT 129
FT /note="G -> R (in Ref. 6; AAC19160)"
FT /evidence="ECO:0000305"
FT CONFLICT 186
FT /note="N -> T (in Ref. 1; AAG13932)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 264 AA; 29898 MW; 8636AEF79A6F8916 CRC64;
MLSHNTMMKQ RKQQATAIMK EVHGNDVDGM DLGKKVSIPR DIMLEELSHL SNRGARLFKM
RQRRSDKYTF ENFQYQSRAQ INHSIAMQNG KVDGSNLEGG SQQAPLTPPN TPDPRSPPNP
DNIAPGYSGP LKEIPPEKFN TTAVPKYYQS PWEQAISNDP ELLEALYPKL FKPEGKAELP
DYRSFNRVAT PFGGFEKASR MVKFKVPDFE LLLLTDPRFM SFVNPLSGRR SFNRTPKGWI
SENIPIVITT EPTDDTTVPE SEDL
