MYOM2_HUMAN
ID MYOM2_HUMAN Reviewed; 1465 AA.
AC P54296; Q7Z3Y2;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 23-FEB-2022, sequence version 3.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=Myomesin-2;
DE AltName: Full=165 kDa connectin-associated protein;
DE AltName: Full=165 kDa titin-associated protein;
DE AltName: Full=M-protein;
DE AltName: Full=Myomesin family member 2;
GN Name=MYOM2;
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]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS LEU-321 AND ALA-1168.
RC TISSUE=Skeletal muscle;
RX PubMed=7505783; DOI=10.1242/jcs.106.1.319;
RA Vinkemeier U., Obermann W., Weber K., Fuerst D.O.;
RT "The globular head domain of titin extends into the center of the
RT sarcomeric M band. cDNA cloning, epitope mapping and immunoelectron
RT microscopy of two titin-associated proteins.";
RL J. Cell Sci. 106:319-330(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS MET-776 AND ALA-1168.
RC TISSUE=PNS;
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).
CC -!- FUNCTION: Major component of the vertebrate myofibrillar M band. Binds
CC myosin, titin, and light meromyosin. This binding is dose dependent.
CC -!- SUBUNIT: Interacts with TTN/titin. {ECO:0000250}.
CC -!- INTERACTION:
CC P54296; O75923: DYSF; NbExp=3; IntAct=EBI-5357134, EBI-2799016;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, M line
CC {ECO:0000250}.
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DR EMBL; X69089; CAA48832.1; -; mRNA.
DR EMBL; AC245164; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC052969; AAH52969.1; -; mRNA.
DR CCDS; CCDS5957.1; -.
DR PIR; S43529; S43529.
DR RefSeq; NP_003961.3; NM_003970.3.
DR AlphaFoldDB; P54296; -.
DR BioGRID; 114612; 27.
DR IntAct; P54296; 19.
DR MINT; P54296; -.
DR STRING; 9606.ENSP00000262113; -.
DR iPTMnet; P54296; -.
DR PhosphoSitePlus; P54296; -.
DR BioMuta; MYOM2; -.
DR DMDM; 224471842; -.
DR MassIVE; P54296; -.
DR MaxQB; P54296; -.
DR PaxDb; P54296; -.
DR PeptideAtlas; P54296; -.
DR PRIDE; P54296; -.
DR ProteomicsDB; 56680; -.
DR Antibodypedia; 940; 143 antibodies from 26 providers.
DR DNASU; 9172; -.
DR Ensembl; ENST00000262113.9; ENSP00000262113.4; ENSG00000036448.10.
DR Ensembl; ENST00000616680.2; ENSP00000478322.1; ENSG00000274137.2.
DR GeneID; 9172; -.
DR KEGG; hsa:9172; -.
DR MANE-Select; ENST00000262113.9; ENSP00000262113.4; NM_003970.4; NP_003961.3.
DR UCSC; uc033azy.2; human.
DR CTD; 9172; -.
DR DisGeNET; 9172; -.
DR GeneCards; MYOM2; -.
DR HGNC; HGNC:7614; MYOM2.
DR HPA; ENSG00000036448; Group enriched (heart muscle, skeletal muscle).
DR MIM; 603509; gene.
DR neXtProt; NX_P54296; -.
DR OpenTargets; ENSG00000036448; -.
DR PharmGKB; PA31419; -.
DR VEuPathDB; HostDB:ENSG00000036448; -.
DR eggNOG; ENOG502QS6D; Eukaryota.
DR GeneTree; ENSGT00940000157057; -.
DR HOGENOM; CLU_004753_1_0_1; -.
DR InParanoid; P54296; -.
DR OrthoDB; 57219at2759; -.
DR PhylomeDB; P54296; -.
DR TreeFam; TF331825; -.
DR PathwayCommons; P54296; -.
DR SignaLink; P54296; -.
DR SIGNOR; P54296; -.
DR BioGRID-ORCS; 9172; 6 hits in 1069 CRISPR screens.
DR ChiTaRS; MYOM2; human.
DR GeneWiki; MYOM2; -.
DR GenomeRNAi; 9172; -.
DR Pharos; P54296; Tbio.
DR PRO; PR:P54296; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; P54296; protein.
DR Bgee; ENSG00000036448; Expressed in apex of heart and 102 other tissues.
DR ExpressionAtlas; P54296; baseline and differential.
DR Genevisible; P54296; HS.
DR GO; GO:0031430; C:M band; IBA:GO_Central.
DR GO; GO:0005739; C:mitochondrion; HDA:UniProtKB.
DR GO; GO:0032982; C:myosin filament; IEA:UniProtKB-KW.
DR GO; GO:0051015; F:actin filament binding; IBA:GO_Central.
DR GO; GO:0019900; F:kinase binding; IPI:CAFA.
DR GO; GO:0008307; F:structural constituent of muscle; TAS:ProtInc.
DR GO; GO:0006936; P:muscle contraction; IBA:GO_Central.
DR GO; GO:0045214; P:sarcomere organization; IMP:FlyBase.
DR CDD; cd00063; FN3; 5.
DR Gene3D; 2.60.40.10; -; 12.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR013098; Ig_I-set.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR Pfam; PF00041; fn3; 5.
DR Pfam; PF07679; I-set; 3.
DR SMART; SM00060; FN3; 5.
DR SMART; SM00409; IG; 5.
DR SMART; SM00408; IGc2; 3.
DR SUPFAM; SSF48726; SSF48726; 6.
DR SUPFAM; SSF49265; SSF49265; 3.
DR PROSITE; PS50853; FN3; 5.
DR PROSITE; PS50835; IG_LIKE; 5.
PE 1: Evidence at protein level;
KW Cytoplasm; Immunoglobulin domain; Muscle protein; Reference proteome;
KW Repeat; Thick filament.
FT CHAIN 1..1465
FT /note="Myomesin-2"
FT /id="PRO_0000072686"
FT DOMAIN 154..245
FT /note="Ig-like C2-type 1"
FT DOMAIN 266..371
FT /note="Ig-like C2-type 2"
FT DOMAIN 385..480
FT /note="Fibronectin type-III 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 513..608
FT /note="Fibronectin type-III 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 614..707
FT /note="Fibronectin type-III 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 710..812
FT /note="Fibronectin type-III 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 815..912
FT /note="Fibronectin type-III 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 904..1002
FT /note="Ig-like C2-type 3"
FT DOMAIN 1130..1211
FT /note="Ig-like C2-type 4"
FT DOMAIN 1345..1434
FT /note="Ig-like C2-type 5"
FT REGION 38..61
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1442..1465
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 81
FT /note="E -> K (in dbSNP:rs35985218)"
FT /id="VAR_033613"
FT VARIANT 182
FT /note="T -> M (in dbSNP:rs17064618)"
FT /id="VAR_033614"
FT VARIANT 321
FT /note="V -> L (in dbSNP:rs2272720)"
FT /evidence="ECO:0000269|PubMed:7505783"
FT /id="VAR_033615"
FT VARIANT 363
FT /note="V -> I (in dbSNP:rs34316994)"
FT /id="VAR_033616"
FT VARIANT 601
FT /note="S -> Y (in dbSNP:rs36089594)"
FT /id="VAR_033617"
FT VARIANT 701
FT /note="V -> I (in dbSNP:rs35335787)"
FT /id="VAR_033618"
FT VARIANT 776
FT /note="T -> M (in dbSNP:rs2294066)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_020083"
FT VARIANT 869
FT /note="S -> N (in dbSNP:rs968381)"
FT /id="VAR_054501"
FT VARIANT 1022
FT /note="L -> F (in dbSNP:rs2280896)"
FT /id="VAR_020084"
FT VARIANT 1168
FT /note="V -> A (in dbSNP:rs17854780)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:7505783"
FT /id="VAR_061320"
FT VARIANT 1284
FT /note="E -> D (in dbSNP:rs34735757)"
FT /id="VAR_033619"
FT CONFLICT 102..103
FT /note="QR -> HG (in Ref. 1; CAA48832)"
FT /evidence="ECO:0000305"
FT CONFLICT 364
FT /note="S -> T (in Ref. 1; CAA48832)"
FT /evidence="ECO:0000305"
FT CONFLICT 555
FT /note="S -> T (in Ref. 1; CAA48832)"
FT /evidence="ECO:0000305"
FT CONFLICT 863
FT /note="N -> D (in Ref. 1; CAA48832)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1465 AA; 164869 MW; E9573DA6E0076343 CRC64;
MSLVTVPFYQ KRHRHFDQSY RNIQTRYLLD EYASKKRAST QASSQKSLSQ RSSSQRASSQ
TSLGGTICRV CAKRVSTQED EEQENRSRYQ SLVAAYGEAK RQRFLSELAH LEEDVHLARS
QARDKLDKYA IQQMMEDKLA WERHTFEERI SRAPEILVRL RSHTVWERMS VKLCFTVQGF
PTPVVQWYKD GSLICQAAEP GKYRIESNYG VHTLEINRAD FDDTATYSAV ATNAHGQVST
NAAVVVRRFR GDEEPFRSVG LPIGLPLSSM IPYTHFDVQF LEKFGVTFRR EGETVTLKCT
MLVTPDLKRV QPRAEWYRDD VLLKESKWTK MFFGEGQASL SFSHLHKDDE GLYTLRIVSR
GGVSDHSAFL FVRDADPLVT GAPGAPMDLQ CHDANRDYVI VTWKPPNTTT ESPVMGYFVD
RCEVGTNNWV QCNDAPVKIC KYPVTGLFEG RSYIFRVRAV NSAGISRPSR VSDAVAALDP
LDLRRLQAVH LEGEKEIAIY QDDLEGDAQV PGPPTGVHAS EISRNYVVLS WEPPTPRGKD
PLMYFIEKSV VGSGSWQRVN AQTAVRSPRY AVFDLMEGKS YVFRVLSANR HGLSEPSEIT
SPIQAQDVTV VPSAPGRVLA SRNTKTSVVV QWDRPKHEED LLGYYVDCCV AGTNLWEPCN
HKPIGYNRFV VHGLTTGEQY IFRVKAVNAV GMSENSQESD VIKVQAALTV PSHPYGITLL
NCDGHSMTLG WKVPKFSGGS PILGYYLDKR EVHHKNWHEV NSSPSKPTIL TVDGLTEGSL
YEFKIAAVNL AGIGEPSDPS EHFKCEAWTM PEPGPAYDLT FCEVRDTSLV MLWKAPVYSG
SSPVSGYFVD FREEDAGEWI TVNQTTTASR YLKVSDLQQG KTYVFRVRAV NANGVGKPSD
TSEPVLVEAR PGTKEISAGV DEQGNIYLGF DCQEMTDASQ FTWCKSYEEI SDDERFKIET
VGDHSKLYLK NPDKEDLGTY SVSVSDTDGV SSSFVLDPEE LERLMALSNE IKNPTIPLKS
ELAYEIFDKG RVRFWLQAEH LSPDASYRFI INDREVSDSE IHRIKCDKAT GIIEMVMDRF
SIENEGTYTV QIHDGKAKSQ SSLVLIGDAF KTVLEEAEFQ RKEFLRKQGP HFAEYLHWDV
TEECEVRLVC KVANTKKETV FKWLKDDVLY ETETLPNLER GICELLIPKL SKKDHGEYKA
TLKDDRGQDV SILEIAGKVY DDMILAMSRV CGKSASPLKV LCTPEGIRLQ CFMKYFTDEM
KVNWCHKDAK ISSSEHMRIG GSEEMAWLQI CEPTEKDKGK YTFEIFDGKD NHQRSLDLSG
QAFDEAFAEF QQFKAAAFAE KNRGRLIGGL PDVVTIMEGK TLNLTCTVFG NPDPEVIWFK
NDQDIQLSEH FSVKVEQAKY VSMTIKGVTS EDSGKYSINI KNKYGGEKID VTVSVYKHGE
KIPDMAPPQQ AKPKLIPASA SAAGQ
