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Q9UKX2 (MYH2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 134. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myosin-2
Alternative name(s):
Myosin heavy chain 2
Myosin heavy chain 2a
Short name=MyHC-2a
Myosin heavy chain IIa
Short name=MyHC-IIa
Myosin heavy chain, skeletal muscle, adult 2
Gene names
Name:MYH2
Synonyms:MYHSA2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1941 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Muscle contraction. Required for cytoskeleton organization By similarity.

Subunit structure

Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with GCSAM. Ref.6

Subcellular location

Cytoplasmmyofibril. Note: Thick filaments of the myofibrils.

Domain

The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.

Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).

Involvement in disease

Inclusion body myopathy 3 (IBM3) [MIM:605637]: Hereditary inclusion body myopathies constitute a group of neuromuscular disorders characterized by slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM3 is a variant of hereditary inclusion body myopathies and is characterized by autosomal dominant myopathy with joint contracture, ophthalmoplegia and rimmed vacuoles. Morphological analysis of muscle biopsies from patients indicate that the type 2A fibers frequently were abnormal, whereas other fiber types appeared normal.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

Contains 1 IQ domain.

Contains 1 myosin motor domain.

Caution

Represents a conventional myosin. This protein should not be confused with the unconventional myosin-2 (MYO2).

Ontologies

Keywords
   Cellular componentCytoplasm
Thick filament
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainCoiled coil
   LigandActin-binding
ATP-binding
Calmodulin-binding
Nucleotide-binding
   Molecular functionMotor protein
Muscle protein
Myosin
   PTMMethylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processFc-gamma receptor signaling pathway involved in phagocytosis

Traceable author statement. Source: Reactome

innate immune response

Traceable author statement. Source: Reactome

membrane organization

Traceable author statement. Source: Reactome

metabolic process

Traceable author statement Ref.1. Source: GOC

muscle contraction

Traceable author statement Ref.1. Source: UniProtKB

muscle filament sliding

Non-traceable author statement PubMed 3904738. Source: BHF-UCL

plasma membrane repair

Inferred from electronic annotation. Source: Ensembl

response to activity

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentA band

Inferred from electronic annotation. Source: Ensembl

Golgi apparatus

Inferred from electronic annotation. Source: Ensembl

actomyosin contractile ring

Inferred from electronic annotation. Source: Ensembl

cytosol

Traceable author statement. Source: Reactome

muscle myosin complex

Traceable author statement Ref.1. Source: UniProtKB

myofibril

Inferred from direct assay PubMed 8145163. Source: BHF-UCL

myosin filament

Inferred from electronic annotation. Source: UniProtKB-KW

protein complex

Inferred from direct assay. Source: LIFEdb

sarcomere

Non-traceable author statement PubMed 3904738. Source: BHF-UCL

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

microfilament motor activity

Traceable author statement Ref.1. Source: UniProtKB

protein binding

Inferred from physical interaction Ref.6. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 19411941Myosin-2
PRO_0000123393

Regions

Domain86 – 784699Myosin motor
Domain787 – 81630IQ
Nucleotide binding179 – 1868ATP Potential
Region661 – 68323Actin-binding By similarity
Region763 – 77715Actin-binding By similarity
Coiled coil845 – 19411097 Potential

Amino acid modifications

Modified residue1301N6,N6,N6-trimethyllysine Potential

Natural variations

Natural variant7061E → K in IBM3. Ref.7
VAR_032630
Natural variant9701V → I in one patient with familial myopathy; unknown pathological significance. Ref.8
Corresponds to variant rs143872329 [ dbSNP | Ensembl ].
VAR_032631
Natural variant10611L → V. Ref.8
Corresponds to variant rs142586585 [ dbSNP | Ensembl ].
VAR_032632
Natural variant19271R → Q.
Corresponds to variant rs34161789 [ dbSNP | Ensembl ].
VAR_032633

Experimental info

Sequence conflict1501E → G in CAD91136. Ref.2
Sequence conflict18441K → R in CAA83687. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q9UKX2 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 681E866F83AEA83F

FASTA1,941223,044
        10         20         30         40         50         60 
MSSDSELAVF GEAAPFLRKS ERERIEAQNR PFDAKTSVFV AEPKESFVKG TIQSREGGKV 

        70         80         90        100        110        120 
TVKTEGGATL TVKDDQVFPM NPPKYDKIED MAMMTHLHEP AVLYNLKERY AAWMIYTYSG 

       130        140        150        160        170        180 
LFCVTVNPYK WLPVYKPEVV TAYRGKKRQE APPHIFSISD NAYQFMLTDR ENQSILITGE 

       190        200        210        220        230        240 
SGAGKTVNTK RVIQYFATIA VTGEKKKEEI TSGKIQGTLE DQIISANPLL EAFGNAKTVR 

       250        260        270        280        290        300 
NDNSSRFGKF IRIHFGTTGK LASADIETYL LEKSRVVFQL KAERSYHIFY QITSNKKPEL 

       310        320        330        340        350        360 
IEMLLITTNP YDYPFVSQGE ISVASIDDQE ELMATDSAID ILGFTNEEKV SIYKLTGAVM 

       370        380        390        400        410        420 
HYGNLKFKQK QREEQAEPDG TEVADKAAYL QSLNSADLLK ALCYPRVKVG NEYVTKGQTV 

       430        440        450        460        470        480 
EQVSNAVGAL AKAVYEKMFL WMVARINQQL DTKQPRQYFI GVLDIAGFEI FDFNSLEQLC 

       490        500        510        520        530        540 
INFTNEKLQQ FFNHHMFVLE QEEYKKEGIE WTFIDFGMDL AACIELIEKP MGIFSILEEE 

       550        560        570        580        590        600 
CMFPKATDTS FKNKLYDQHL GKSANFQKPK VVKGKAEAHF ALIHYAGVVD YNITGWLEKN 

       610        620        630        640        650        660 
KDPLNETVVG LYQKSAMKTL AQLFSGAQTA EGEGAGGGAK KGGKKKGSSF QTVSALFREN 

       670        680        690        700        710        720 
LNKLMTNLRS THPHFVRCII PNETKTPGAM EHELVLHQLR CNGVLEGIRI CRKGFPSRIL 

       730        740        750        760        770        780 
YADFKQRYKV LNASAIPEGQ FIDSKKASEK LLASIDIDHT QYKFGHTKVF FKAGLLGLLE 

       790        800        810        820        830        840 
EMRDDKLAQL ITRTQARCRG FLARVEYQRM VERREAIFCI QYNIRSFMNV KHWPWMKLFF 

       850        860        870        880        890        900 
KIKPLLKSAE TEKEMATMKE EFQKIKDELA KSEAKRKELE EKMVTLLKEK NDLQLQVQAE 

       910        920        930        940        950        960 
AEGLADAEER CDQLIKTKIQ LEAKIKEVTE RAEDEEEINA ELTAKKRKLE DECSELKKDI 

       970        980        990       1000       1010       1020 
DDLELTLAKV EKEKHATENK VKNLTEEMAG LDETIAKLTK EKKALQEAHQ QTLDDLQAEE 

      1030       1040       1050       1060       1070       1080 
DKVNTLTKAK IKLEQQVDDL EGSLEQEKKL RMDLERAKRK LEGDLKLAQE SIMDIENEKQ 

      1090       1100       1110       1120       1130       1140 
QLDEKLKKKE FEISNLQSKI EDEQALGIQL QKKIKELQAR IEELEEEIEA ERASRAKAEK 

      1150       1160       1170       1180       1190       1200 
QRSDLSRELE EISERLEEAG GATSAQIEMN KKREAEFQKM RRDLEEATLQ HEATAATLRK 

      1210       1220       1230       1240       1250       1260 
KHADSVAELG EQIDNLQRVK QKLEKEKSEM KMEIDDLASN VETVSKAKGN LEKMCRTLED 

      1270       1280       1290       1300       1310       1320 
QLSELKSKEE EQQRLINDLT AQRGRLQTES GEFSRQLDEK EALVSQLSRG KQAFTQQIEE 

      1330       1340       1350       1360       1370       1380 
LKRQLEEEIK AKNALAHALQ SSRHDCDLLR EQYEEEQESK AELQRALSKA NTEVAQWRTK 

      1390       1400       1410       1420       1430       1440 
YETDAIQRTE ELEEAKKKLA QRLQAAEEHV EAVNAKCASL EKTKQRLQNE VEDLMLDVER 

      1450       1460       1470       1480       1490       1500 
TNAACAALDK KQRNFDKILA EWKQKCEETH AELEASQKEA RSLGTELFKI KNAYEESLDQ 

      1510       1520       1530       1540       1550       1560 
LETLKRENKN LQQEISDLTE QIAEGGKRIH ELEKIKKQVE QEKCELQAAL EEAEASLEHE 

      1570       1580       1590       1600       1610       1620 
EGKILRIQLE LNQVKSEVDR KIAEKDEEID QLKRNHIRIV ESMQSTLDAE IRSRNDAIRL 

      1630       1640       1650       1660       1670       1680 
KKKMEGDLNE MEIQLNHANR MAAEALRNYR NTQGILKDTQ IHLDDALRSQ EDLKEQLAMV 

      1690       1700       1710       1720       1730       1740 
ERRANLLQAE IEELRATLEQ TERSRKIAEQ ELLDASERVQ LLHTQNTSLI NTKKKLETDI 

      1750       1760       1770       1780       1790       1800 
SQMQGEMEDI LQEARNAEEK AKKAITDAAM MAEELKKEQD TSAHLERMKK NMEQTVKDLQ 

      1810       1820       1830       1840       1850       1860 
LRLDEAEQLA LKGGKKQIQK LEARVRELEG EVESEQKRNA EAVKGLRKHE RRVKELTYQT 

      1870       1880       1890       1900       1910       1920 
EEDRKNILRL QDLVDKLQAK VKSYKRQAEE AEEQSNTNLA KFRKLQHELE EAEERADIAE 

      1930       1940 
SQVNKLRVKS REVHTKVISE E 

« Hide

References

« Hide 'large scale' references
[1]"Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity."
Weiss A., Schiaffino S., Leinwand L.A.
J. Mol. Biol. 290:61-75(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Skeletal muscle.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Skeletal muscle.
[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].
Tissue: Cerebellum.
[4]"Type IIx myosin heavy chain transcripts are expressed in type IIb fibers of human skeletal muscle."
Smerdu V., Karsch-Mizrachi I., Campione M., Leinwand L., Schiaffino S.
Am. J. Physiol. 267:C1723-C1728(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1711-1941.
Tissue: Skeletal muscle.
[5]"Characterization of human skeletal muscle fibres according to the myosin heavy chains they express."
Ennion S., Sant'ana Pereira J., Sargeant T., Young A., Goldspink G.
J. Muscle Res. Cell Motil. 16:35-43(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1823-1941.
Tissue: Skeletal muscle.
[6]"HGAL, a lymphoma prognostic biomarker, interacts with the cytoskeleton and mediates the effects of IL-6 on cell migration."
Lu X., Chen J., Malumbres R., Cubedo Gil E., Helfman D.M., Lossos I.S.
Blood 110:4268-4277(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH GCSAM.
[7]"Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene."
Martinsson T., Oldfors A., Darin N., Berg K., Tajsharghi H., Kyllerman M., Wahlstroem J.
Proc. Natl. Acad. Sci. U.S.A. 97:14614-14619(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT IBM3 LYS-706.
[8]"Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2)."
Tajsharghi H., Darin N., Rekabdar E., Kyllerman M., Wahlstroem J., Martinsson T., Oldfors A.
Eur. J. Hum. Genet. 13:617-622(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ILE-970 AND VAL-1061.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF111784 mRNA. Translation: AAD29950.1.
BX510904 mRNA. Translation: CAD91136.1.
BC126409 mRNA. Translation: AAI26410.1.
S73840 mRNA. Translation: AAC13916.1.
Z32858 mRNA. Translation: CAA83687.1.
CCDSCCDS11156.1.
PIRI51912.
RefSeqNP_001093582.1. NM_001100112.1.
NP_060004.3. NM_017534.5.
UniGeneHs.667534.

3D structure databases

ProteinModelPortalQ9UKX2.
SMRQ9UKX2. Positions 4-969, 1093-1297.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110705. 7 interactions.
IntActQ9UKX2. 4 interactions.
MINTMINT-2821903.
STRING9606.ENSP00000245503.

PTM databases

PhosphoSiteQ9UKX2.

Polymorphism databases

DMDM13431716.

2D gel databases

UCD-2DPAGEQ9UKX2.

Proteomic databases

MaxQBQ9UKX2.
PaxDbQ9UKX2.
PRIDEQ9UKX2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000245503; ENSP00000245503; ENSG00000125414.
ENST00000397183; ENSP00000380367; ENSG00000125414.
GeneID4620.
KEGGhsa:4620.
UCSCuc002gmp.4. human.

Organism-specific databases

CTD4620.
GeneCardsGC17M010427.
HGNCHGNC:7572. MYH2.
HPACAB010760.
HPA001239.
HPA001349.
MIM160740. gene.
605637. phenotype.
neXtProtNX_Q9UKX2.
Orphanet363677. Childhood-onset autosomal recessive myopathy with external ophthalmoplegia.
79091. Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia.
PharmGKBPA31369.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5022.
HOGENOMHOG000173959.
HOVERGENHBG004704.
InParanoidQ9UKX2.
KOK10352.
OMAQITSNRK.
PhylomeDBQ9UKX2.
TreeFamTF314375.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.
REACT_6900. Immune System.

Gene expression databases

ArrayExpressQ9UKX2.
BgeeQ9UKX2.
CleanExHS_MYH2.
GenevestigatorQ9UKX2.

Family and domain databases

Gene3D4.10.270.10. 1 hit.
InterProIPR000048. IQ_motif_EF-hand-BS.
IPR027401. Myosin-like_IQ_dom.
IPR001609. Myosin_head_motor_dom.
IPR004009. Myosin_N.
IPR002928. Myosin_tail.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF00063. Myosin_head. 1 hit.
PF02736. Myosin_N. 1 hit.
PF01576. Myosin_tail_1. 1 hit.
[Graphical view]
PRINTSPR00193. MYOSINHEAVY.
SMARTSM00015. IQ. 1 hit.
SM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
PROSITEPS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMYH2.
GenomeRNAi4620.
NextBio17784.
PROQ9UKX2.
SOURCESearch...

Entry information

Entry nameMYH2_HUMAN
AccessionPrimary (citable) accession number: Q9UKX2
Secondary accession number(s): A0AVL4 expand/collapse secondary AC list , Q14322, Q16229, Q86T56
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 134 of the entry and version 1 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 17

Human chromosome 17: entries, gene names and cross-references to MIM