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P54296 (MYOM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 119. 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:
Myomesin-2
Alternative name(s):
165 kDa connectin-associated protein
165 kDa titin-associated protein
M-protein
Myomesin family member 2
Gene names
Name:MYOM2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1465 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.

Subunit structure

Interacts with TTN/titin By similarity.

Subcellular location

CytoplasmmyofibrilsarcomereM line By similarity.

Sequence similarities

Contains 5 fibronectin type-III domains.

Contains 5 Ig-like C2-type (immunoglobulin-like) domains.

Ontologies

Keywords
   Cellular componentCytoplasm
Thick filament
   Coding sequence diversityPolymorphism
   DomainImmunoglobulin domain
Repeat
   Molecular functionMuscle protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmuscle contraction

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentM band

Inferred from electronic annotation. Source: UniProtKB-SubCell

mitochondrion

Inferred from direct assay PubMed 20833797. Source: UniProt

myosin filament

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionstructural constituent of muscle

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14651465Myomesin-2
PRO_0000072686

Regions

Domain154 – 24592Ig-like C2-type 1
Domain266 – 371106Ig-like C2-type 2
Domain385 – 48096Fibronectin type-III 1
Domain513 – 60896Fibronectin type-III 2
Domain614 – 70794Fibronectin type-III 3
Domain710 – 812103Fibronectin type-III 4
Domain815 – 91298Fibronectin type-III 5
Domain904 – 100299Ig-like C2-type 3
Domain1130 – 121182Ig-like C2-type 4
Domain1345 – 143490Ig-like C2-type 5

Natural variations

Natural variant811E → K.
Corresponds to variant rs35985218 [ dbSNP | Ensembl ].
VAR_033613
Natural variant1821T → M.
Corresponds to variant rs17064618 [ dbSNP | Ensembl ].
VAR_033614
Natural variant3211V → L. Ref.1
Corresponds to variant rs2272720 [ dbSNP | Ensembl ].
VAR_033615
Natural variant3631V → I.
Corresponds to variant rs34316994 [ dbSNP | Ensembl ].
VAR_033616
Natural variant6011S → Y.
Corresponds to variant rs36089594 [ dbSNP | Ensembl ].
VAR_033617
Natural variant7011V → I.
Corresponds to variant rs35335787 [ dbSNP | Ensembl ].
VAR_033618
Natural variant7761T → M. Ref.3
Corresponds to variant rs2294066 [ dbSNP | Ensembl ].
VAR_020083
Natural variant8691N → S. Ref.1 Ref.3
Corresponds to variant rs968381 [ dbSNP | Ensembl ].
VAR_054501
Natural variant10221L → F.
Corresponds to variant rs2280896 [ dbSNP | Ensembl ].
VAR_020084
Natural variant11681V → A. Ref.1 Ref.3
Corresponds to variant rs17854780 [ dbSNP | Ensembl ].
VAR_061320
Natural variant12841E → D.
Corresponds to variant rs34735757 [ dbSNP | Ensembl ].
VAR_033619

Experimental info

Sequence conflict102 – 1032QR → HG in CAA48832. Ref.1
Sequence conflict3641S → T in CAA48832. Ref.1
Sequence conflict5551S → T in CAA48832. Ref.1
Sequence conflict8631N → D in CAA48832. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P54296 [UniParc].

Last modified March 3, 2009. Version 2.
Checksum: 71C6B11FCB066A8B

FASTA1,465164,896
        10         20         30         40         50         60 
MSLVTVPFYQ KRHRHFDQSY RNIQTRYLLD EYASKKRAST QASSQKSLSQ RSSSQRASSQ 

        70         80         90        100        110        120 
TSLGGTICRV CAKRVSTQED EEQENRSRYQ SLVAAYGEAK RQRFLSELAH LEEDVHLARS 

       130        140        150        160        170        180 
QARDKLDKYA IQQMMEDKLA WERHTFEERI SRAPEILVRL RSHTVWERMS VKLCFTVQGF 

       190        200        210        220        230        240 
PTPVVQWYKD GSLICQAAEP GKYRIESNYG VHTLEINRAD FDDTATYSAV ATNAHGQVST 

       250        260        270        280        290        300 
NAAVVVRRFR GDEEPFRSVG LPIGLPLSSM IPYTHFDVQF LEKFGVTFRR EGETVTLKCT 

       310        320        330        340        350        360 
MLVTPDLKRV QPRAEWYRDD VLLKESKWTK MFFGEGQASL SFSHLHKDDE GLYTLRIVSR 

       370        380        390        400        410        420 
GGVSDHSAFL FVRDADPLVT GAPGAPMDLQ CHDANRDYVI VTWKPPNTTT ESPVMGYFVD 

       430        440        450        460        470        480 
RCEVGTNNWV QCNDAPVKIC KYPVTGLFEG RSYIFRVRAV NSAGISRPSR VSDAVAALDP 

       490        500        510        520        530        540 
LDLRRLQAVH LEGEKEIAIY QDDLEGDAQV PGPPTGVHAS EISRNYVVLS WEPPTPRGKD 

       550        560        570        580        590        600 
PLMYFIEKSV VGSGSWQRVN AQTAVRSPRY AVFDLMEGKS YVFRVLSANR HGLSEPSEIT 

       610        620        630        640        650        660 
SPIQAQDVTV VPSAPGRVLA SRNTKTSVVV QWDRPKHEED LLGYYVDCCV AGTNLWEPCN 

       670        680        690        700        710        720 
HKPIGYNRFV VHGLTTGEQY IFRVKAVNAV GMSENSQESD VIKVQAALTV PSHPYGITLL 

       730        740        750        760        770        780 
NCDGHSMTLG WKVPKFSGGS PILGYYLDKR EVHHKNWHEV NSSPSKPTIL TVDGLTEGSL 

       790        800        810        820        830        840 
YEFKIAAVNL AGIGEPSDPS EHFKCEAWTM PEPGPAYDLT FCEVRDTSLV MLWKAPVYSG 

       850        860        870        880        890        900 
SSPVSGYFVD FREEDAGEWI TVNQTTTANR YLKVSDLQQG KTYVFRVRAV NANGVGKPSD 

       910        920        930        940        950        960 
TSEPVLVEAR PGTKEISAGV DEQGNIYLGF DCQEMTDASQ FTWCKSYEEI SDDERFKIET 

       970        980        990       1000       1010       1020 
VGDHSKLYLK NPDKEDLGTY SVSVSDTDGV SSSFVLDPEE LERLMALSNE IKNPTIPLKS 

      1030       1040       1050       1060       1070       1080 
ELAYEIFDKG RVRFWLQAEH LSPDASYRFI INDREVSDSE IHRIKCDKAT GIIEMVMDRF 

      1090       1100       1110       1120       1130       1140 
SIENEGTYTV QIHDGKAKSQ SSLVLIGDAF KTVLEEAEFQ RKEFLRKQGP HFAEYLHWDV 

      1150       1160       1170       1180       1190       1200 
TEECEVRLVC KVANTKKETV FKWLKDDVLY ETETLPNLER GICELLIPKL SKKDHGEYKA 

      1210       1220       1230       1240       1250       1260 
TLKDDRGQDV SILEIAGKVY DDMILAMSRV CGKSASPLKV LCTPEGIRLQ CFMKYFTDEM 

      1270       1280       1290       1300       1310       1320 
KVNWCHKDAK ISSSEHMRIG GSEEMAWLQI CEPTEKDKGK YTFEIFDGKD NHQRSLDLSG 

      1330       1340       1350       1360       1370       1380 
QAFDEAFAEF QQFKAAAFAE KNRGRLIGGL PDVVTIMEGK TLNLTCTVFG NPDPEVIWFK 

      1390       1400       1410       1420       1430       1440 
NDQDIQLSEH FSVKVEQAKY VSMTIKGVTS EDSGKYSINI KNKYGGEKID VTVSVYKHGE 

      1450       1460 
KIPDMAPPQQ AKPKLIPASA SAAGQ 

« Hide

References

« Hide 'large scale' references
[1]"The globular head domain of titin extends into the center of the sarcomeric M band. cDNA cloning, epitope mapping and immunoelectron microscopy of two titin-associated proteins."
Vinkemeier U., Obermann W., Weber K., Fuerst D.O.
J. Cell Sci. 106:319-330(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LEU-321; SER-869 AND ALA-1168.
Tissue: Skeletal muscle.
[2]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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], VARIANTS MET-776; SER-869 AND ALA-1168.
Tissue: PNS.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X69089 mRNA. Translation: CAA48832.1.
AC125453 Genomic DNA. No translation available.
BC052969 mRNA. Translation: AAH52969.1.
PIRS43529.
RefSeqNP_003961.2. NM_003970.2.
UniGeneHs.443683.

3D structure databases

ProteinModelPortalP54296.
SMRP54296. Positions 150-1436.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114612. 1 interaction.
IntActP54296. 13 interactions.
STRING9606.ENSP00000262113.

PTM databases

PhosphoSiteP54296.

Polymorphism databases

DMDM224471842.

Proteomic databases

PaxDbP54296.
PRIDEP54296.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262113; ENSP00000262113; ENSG00000036448.
ENST00000566299; ENSP00000454232; ENSG00000260130.
GeneID9172.
KEGGhsa:9172.
UCSCuc003wpx.4. human.

Organism-specific databases

CTD9172.
GeneCardsGC08P001993.
H-InvDBHIX0025666.
HGNCHGNC:7614. MYOM2.
HPAHPA001765.
HPA005953.
MIM603509. gene.
neXtProtNX_P54296.
PharmGKBPA31419.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG147025.
HOGENOMHOG000293283.
HOVERGENHBG004977.
InParanoidP54296.
OMADHSKLYF.
PhylomeDBP54296.
TreeFamTF331825.

Gene expression databases

ArrayExpressP54296.
BgeeP54296.
CleanExHS_MYOM2.
GenevestigatorP54296.

Family and domain databases

Gene3D2.60.40.10. 11 hits.
InterProIPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamPF00041. fn3. 5 hits.
PF07679. I-set. 3 hits.
[Graphical view]
SMARTSM00060. FN3. 5 hits.
SM00409. IG. 2 hits.
SM00408. IGc2. 1 hit.
[Graphical view]
SUPFAMSSF49265. SSF49265. 3 hits.
PROSITEPS50853. FN3. 5 hits.
PS50835. IG_LIKE. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMYOM2. human.
GeneWikiMYOM2.
GenomeRNAi9172.
NextBio34395.
PROP54296.
SOURCESearch...

Entry information

Entry nameMYOM2_HUMAN
AccessionPrimary (citable) accession number: P54296
Secondary accession number(s): Q7Z3Y2
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: March 3, 2009
Last modified: April 16, 2014
This is version 119 of the entry and version 2 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 8

Human chromosome 8: entries, gene names and cross-references to MIM