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 02-SEP-2026, entry version 176. 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 Skeletal muscle RC {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; Q02410: APBA1; NbExp=2; IntAct=EBI-746712, EBI-368690; CC Q9NPC6; Q99767: APBA2; NbExp=2; IntAct=EBI-746712, EBI-81711; CC Q9NPC6; Q12959: DLG1; NbExp=3; IntAct=EBI-746712, EBI-357481; CC Q9NPC6; Q15700: DLG2; NbExp=2; IntAct=EBI-746712, EBI-80426; CC Q9NPC6; Q92796: DLG3; NbExp=3; IntAct=EBI-746712, EBI-80440; CC Q9NPC6; P78352: DLG4; NbExp=3; IntAct=EBI-746712, EBI-80389; CC Q9NPC6; Q6PGQ1: DRICH1; NbExp=3; IntAct=EBI-746712, EBI-10253641; CC Q9NPC6; P22607: FGFR3; NbExp=3; IntAct=EBI-746712, EBI-348399; CC Q9NPC6; Q68DX3: FRMPD2; NbExp=3; IntAct=EBI-746712, EBI-53993476; CC Q9NPC6; A4D2P6: GRID2IP; NbExp=2; IntAct=EBI-746712, EBI-15893226; CC Q9NPC6; Q14957: GRIN2C; NbExp=3; IntAct=EBI-746712, EBI-8285963; CC Q9NPC6; Q9Y3R0: GRIP1; NbExp=5; IntAct=EBI-746712, EBI-5349621; CC Q9NPC6; Q9C0E4: GRIP2; NbExp=5; IntAct=EBI-746712, EBI-949557; CC Q9NPC6; P06396: GSN; NbExp=3; IntAct=EBI-746712, EBI-351506; CC Q9NPC6; Q14005: IL16; NbExp=3; IntAct=EBI-746712, EBI-2831580; CC Q9NPC6; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-746712, EBI-739832; CC Q9NPC6; Q8N448: LNX2; NbExp=2; IntAct=EBI-746712, EBI-2340947; CC Q9NPC6; Q96QZ7: MAGI1; NbExp=2; IntAct=EBI-746712, EBI-924464; CC Q9NPC6; Q86UL8: MAGI2; NbExp=5; IntAct=EBI-746712, EBI-311035; CC Q9NPC6; Q13064: MKRN3; NbExp=3; IntAct=EBI-746712, EBI-2340269; CC Q9NPC6; O75970: MPDZ; NbExp=3; IntAct=EBI-746712, EBI-821405; CC Q9NPC6; Q86UT5: NHERF4; NbExp=2; IntAct=EBI-746712, EBI-8744528; CC Q9NPC6; Q8NI35: PATJ; NbExp=9; IntAct=EBI-746712, EBI-724390; CC Q9NPC6; Q5T2W1: PDZK1; NbExp=3; IntAct=EBI-746712, EBI-349819; CC Q9NPC6; Q93062: RBPMS; NbExp=3; IntAct=EBI-746712, EBI-740322; CC Q9NPC6; Q14160: SCRIB; NbExp=3; IntAct=EBI-746712, EBI-357345; CC Q9NPC6; O15273: TCAP; NbExp=2; IntAct=EBI-746712, EBI-954089; CC Q9NPC6; Q07157: TJP1; NbExp=2; IntAct=EBI-746712, EBI-79553; CC Q9NPC6; Q9P202: WHRN; NbExp=3; IntAct=EBI-746712, EBI-310886; 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) CC [MIM:613838]: A hereditary heart disorder characterized by ventricular CC hypertrophy, which is usually asymmetric and often involves the CC interventricular septum. The symptoms include dyspnea, syncope, CC collapse, palpitations, and chest pain. They can be readily provoked by CC exercise. The disorder has inter- and intrafamilial variability ranging CC from benign to malignant forms with high risk of cardiac failure and CC sudden cardiac death. {ECO:0000269|PubMed:17347475}. Note=The disease CC is caused by variants affecting the gene represented in this entry. CC -!- SIMILARITY: Belongs to the myozenin family. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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_016599.5. DR RefSeq; XP_054206152.1; XM_054350177.1. DR AlphaFoldDB; Q9NPC6; -. DR BioGRID; 119726; 18. DR FunCoup; Q9NPC6; 34. DR IntAct; Q9NPC6; 101. DR STRING; 9606.ENSP00000306997; -. DR iPTMnet; Q9NPC6; -. DR PhosphoSitePlus; Q9NPC6; -. DR BioMuta; MYOZ2; -. DR DMDM; 74761638; -. DR MassIVE; Q9NPC6; -. DR PaxDb; 9606-ENSP00000306997; -. DR PeptideAtlas; Q9NPC6; -. DR ProteomicsDB; 81967; -. DR Antibodypedia; 26655; 188 antibodies from 27 providers. DR DNASU; 51778; -. DR Ensembl; ENST00000307128.6; ENSP00000306997.6; ENSG00000172399.7. DR Ensembl; ENST00000890354.1; ENSP00000560413.1; ENSG00000172399.7. DR Ensembl; ENST00000890356.1; ENSP00000560415.1; ENSG00000172399.7. DR Ensembl; ENST00000958709.1; ENSP00000628768.1; ENSG00000172399.7. DR Ensembl; ENST00000958710.1; ENSP00000628769.1; ENSG00000172399.7. 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 AGR; HGNC:1330; -. DR ClinPGx; PA31421; -. 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 OpenTargets; ENSG00000172399; -. DR VEuPathDB; HostDB:ENSG00000172399; -. DR eggNOG; ENOG502QVA2; Eukaryota. DR GeneTree; ENSGT00950000183027; -. DR HOGENOM; CLU_071316_1_1_1; -. DR InParanoid; Q9NPC6; -. DR OMA; INHRIAM; -. DR OrthoDB; 9895914at2759; -. DR PAN-GO; Q9NPC6; 5 GO annotations based on evolutionary models. DR PhylomeDB; Q9NPC6; -. DR PathwayCommons; Q9NPC6; -. DR SignaLink; Q9NPC6; -. DR Agora; ENSG00000172399; -. DR BioGRID-ORCS; 51778; 9 hits in 1149 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 113 other cell types or tissues. 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; MYOZENIN; 1. DR PANTHER; PTHR15941:SF9; MYOZENIN-2; 1. DR Pfam; PF05556; Calsarcin; 1. PE 1: Evidence at protein level; KW Cardiomyopathy; Cytoplasm; Disease variant; Methylation; Phosphoprotein; KW Proteomics identification; 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 106..120 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 //