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Q9UKX2

- MYH2_HUMAN

UniProt

Q9UKX2 - MYH2_HUMAN

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Protein

Myosin-2

Gene
MYH2, MYHSA2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Muscle contraction. Required for cytoskeleton organization By similarity.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi179 – 1868ATP Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. microfilament motor activity Source: UniProtKB
  3. protein binding Source: UniProtKB

GO - Biological processi

  1. Fc-gamma receptor signaling pathway involved in phagocytosis Source: Reactome
  2. innate immune response Source: Reactome
  3. membrane organization Source: Reactome
  4. metabolic process Source: GOC
  5. muscle contraction Source: UniProtKB
  6. muscle filament sliding Source: BHF-UCL
  7. plasma membrane repair Source: Ensembl
  8. response to activity Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Muscle protein, Myosin

Keywords - Ligandi

Actin-binding, ATP-binding, Calmodulin-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_147867. Translocation of GLUT4 to the plasma membrane.
REACT_160086. Regulation of actin dynamics for phagocytic cup formation.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:MYH2
Synonyms:MYHSA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:7572. MYH2.

Subcellular locationi

Cytoplasmmyofibril
Note: Thick filaments of the myofibrils.

GO - Cellular componenti

  1. A band Source: Ensembl
  2. actomyosin contractile ring Source: Ensembl
  3. cytosol Source: Reactome
  4. Golgi apparatus Source: Ensembl
  5. muscle myosin complex Source: UniProtKB
  6. myofibril Source: BHF-UCL
  7. myosin filament Source: UniProtKB-KW
  8. protein complex Source: LIFEdb
  9. sarcomere Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Thick filament

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti706 – 7061E → K in IBM3. 1 Publication
VAR_032630

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi605637. phenotype.
Orphaneti363677. Childhood-onset autosomal recessive myopathy with external ophthalmoplegia.
79091. Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia.
PharmGKBiPA31369.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 19411941Myosin-2PRO_0000123393Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei130 – 1301N6,N6,N6-trimethyllysine Reviewed prediction

Keywords - PTMi

Methylation

Proteomic databases

MaxQBiQ9UKX2.
PaxDbiQ9UKX2.
PRIDEiQ9UKX2.

2D gel databases

UCD-2DPAGEQ9UKX2.

PTM databases

PhosphoSiteiQ9UKX2.

Expressioni

Gene expression databases

ArrayExpressiQ9UKX2.
BgeeiQ9UKX2.
CleanExiHS_MYH2.
GenevestigatoriQ9UKX2.

Organism-specific databases

HPAiCAB010760.
HPA001239.
HPA001349.

Interactioni

Subunit structurei

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.1 Publication

Protein-protein interaction databases

BioGridi110705. 7 interactions.
IntActiQ9UKX2. 4 interactions.
MINTiMINT-2821903.
STRINGi9606.ENSP00000245503.

Structurei

3D structure databases

ProteinModelPortaliQ9UKX2.
SMRiQ9UKX2. Positions 4-969, 1093-1297.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini86 – 784699Myosin motorAdd
BLAST
Domaini787 – 81630IQAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni661 – 68323Actin-binding By similarityAdd
BLAST
Regioni763 – 77715Actin-binding By similarityAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili845 – 19411097 Reviewed predictionAdd
BLAST

Domaini

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).

Sequence similaritiesi

Contains 1 IQ domain.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiCOG5022.
HOGENOMiHOG000173959.
HOVERGENiHBG004704.
InParanoidiQ9UKX2.
KOiK10352.
OMAiQITSNRK.
PhylomeDBiQ9UKX2.
TreeFamiTF314375.

Family and domain databases

Gene3Di4.10.270.10. 1 hit.
InterProiIPR000048. 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]
PfamiPF00063. Myosin_head. 1 hit.
PF02736. Myosin_N. 1 hit.
PF01576. Myosin_tail_1. 1 hit.
[Graphical view]
PRINTSiPR00193. MYOSINHEAVY.
SMARTiSM00015. IQ. 1 hit.
SM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UKX2-1 [UniParc]FASTAAdd to Basket

« Hide

MSSDSELAVF GEAAPFLRKS ERERIEAQNR PFDAKTSVFV AEPKESFVKG     50
TIQSREGGKV TVKTEGGATL TVKDDQVFPM NPPKYDKIED MAMMTHLHEP 100
AVLYNLKERY AAWMIYTYSG LFCVTVNPYK WLPVYKPEVV TAYRGKKRQE 150
APPHIFSISD NAYQFMLTDR ENQSILITGE SGAGKTVNTK RVIQYFATIA 200
VTGEKKKEEI TSGKIQGTLE DQIISANPLL EAFGNAKTVR NDNSSRFGKF 250
IRIHFGTTGK LASADIETYL LEKSRVVFQL KAERSYHIFY QITSNKKPEL 300
IEMLLITTNP YDYPFVSQGE ISVASIDDQE ELMATDSAID ILGFTNEEKV 350
SIYKLTGAVM HYGNLKFKQK QREEQAEPDG TEVADKAAYL QSLNSADLLK 400
ALCYPRVKVG NEYVTKGQTV EQVSNAVGAL AKAVYEKMFL WMVARINQQL 450
DTKQPRQYFI GVLDIAGFEI FDFNSLEQLC INFTNEKLQQ FFNHHMFVLE 500
QEEYKKEGIE WTFIDFGMDL AACIELIEKP MGIFSILEEE CMFPKATDTS 550
FKNKLYDQHL GKSANFQKPK VVKGKAEAHF ALIHYAGVVD YNITGWLEKN 600
KDPLNETVVG LYQKSAMKTL AQLFSGAQTA EGEGAGGGAK KGGKKKGSSF 650
QTVSALFREN LNKLMTNLRS THPHFVRCII PNETKTPGAM EHELVLHQLR 700
CNGVLEGIRI CRKGFPSRIL YADFKQRYKV LNASAIPEGQ FIDSKKASEK 750
LLASIDIDHT QYKFGHTKVF FKAGLLGLLE EMRDDKLAQL ITRTQARCRG 800
FLARVEYQRM VERREAIFCI QYNIRSFMNV KHWPWMKLFF KIKPLLKSAE 850
TEKEMATMKE EFQKIKDELA KSEAKRKELE EKMVTLLKEK NDLQLQVQAE 900
AEGLADAEER CDQLIKTKIQ LEAKIKEVTE RAEDEEEINA ELTAKKRKLE 950
DECSELKKDI DDLELTLAKV EKEKHATENK VKNLTEEMAG LDETIAKLTK 1000
EKKALQEAHQ QTLDDLQAEE DKVNTLTKAK IKLEQQVDDL EGSLEQEKKL 1050
RMDLERAKRK LEGDLKLAQE SIMDIENEKQ QLDEKLKKKE FEISNLQSKI 1100
EDEQALGIQL QKKIKELQAR IEELEEEIEA ERASRAKAEK QRSDLSRELE 1150
EISERLEEAG GATSAQIEMN KKREAEFQKM RRDLEEATLQ HEATAATLRK 1200
KHADSVAELG EQIDNLQRVK QKLEKEKSEM KMEIDDLASN VETVSKAKGN 1250
LEKMCRTLED QLSELKSKEE EQQRLINDLT AQRGRLQTES GEFSRQLDEK 1300
EALVSQLSRG KQAFTQQIEE LKRQLEEEIK AKNALAHALQ SSRHDCDLLR 1350
EQYEEEQESK AELQRALSKA NTEVAQWRTK YETDAIQRTE ELEEAKKKLA 1400
QRLQAAEEHV EAVNAKCASL EKTKQRLQNE VEDLMLDVER TNAACAALDK 1450
KQRNFDKILA EWKQKCEETH AELEASQKEA RSLGTELFKI KNAYEESLDQ 1500
LETLKRENKN LQQEISDLTE QIAEGGKRIH ELEKIKKQVE QEKCELQAAL 1550
EEAEASLEHE EGKILRIQLE LNQVKSEVDR KIAEKDEEID QLKRNHIRIV 1600
ESMQSTLDAE IRSRNDAIRL KKKMEGDLNE MEIQLNHANR MAAEALRNYR 1650
NTQGILKDTQ IHLDDALRSQ EDLKEQLAMV ERRANLLQAE IEELRATLEQ 1700
TERSRKIAEQ ELLDASERVQ LLHTQNTSLI NTKKKLETDI SQMQGEMEDI 1750
LQEARNAEEK AKKAITDAAM MAEELKKEQD TSAHLERMKK NMEQTVKDLQ 1800
LRLDEAEQLA LKGGKKQIQK LEARVRELEG EVESEQKRNA EAVKGLRKHE 1850
RRVKELTYQT EEDRKNILRL QDLVDKLQAK VKSYKRQAEE AEEQSNTNLA 1900
KFRKLQHELE EAEERADIAE SQVNKLRVKS REVHTKVISE E 1941
Length:1,941
Mass (Da):223,044
Last modified:May 1, 2000 - v1
Checksum:i681E866F83AEA83F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti706 – 7061E → K in IBM3. 1 Publication
VAR_032630
Natural varianti970 – 9701V → I in one patient with familial myopathy; unknown pathological significance. 1 Publication
Corresponds to variant rs143872329 [ dbSNP | Ensembl ].
VAR_032631
Natural varianti1061 – 10611L → V.1 Publication
Corresponds to variant rs142586585 [ dbSNP | Ensembl ].
VAR_032632
Natural varianti1927 – 19271R → Q.
Corresponds to variant rs34161789 [ dbSNP | Ensembl ].
VAR_032633

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti150 – 1501E → G in CAD91136. 1 Publication
Sequence conflicti1844 – 18441K → R in CAA83687. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS11156.1.
PIRiI51912.
RefSeqiNP_001093582.1. NM_001100112.1.
NP_060004.3. NM_017534.5.
UniGeneiHs.667534.

Genome annotation databases

EnsembliENST00000245503; ENSP00000245503; ENSG00000125414.
ENST00000397183; ENSP00000380367; ENSG00000125414.
GeneIDi4620.
KEGGihsa:4620.
UCSCiuc002gmp.4. human.

Polymorphism databases

DMDMi13431716.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS11156.1.
PIRi I51912.
RefSeqi NP_001093582.1. NM_001100112.1.
NP_060004.3. NM_017534.5.
UniGenei Hs.667534.

3D structure databases

ProteinModelPortali Q9UKX2.
SMRi Q9UKX2. Positions 4-969, 1093-1297.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110705. 7 interactions.
IntActi Q9UKX2. 4 interactions.
MINTi MINT-2821903.
STRINGi 9606.ENSP00000245503.

PTM databases

PhosphoSitei Q9UKX2.

Polymorphism databases

DMDMi 13431716.

2D gel databases

UCD-2DPAGE Q9UKX2.

Proteomic databases

MaxQBi Q9UKX2.
PaxDbi Q9UKX2.
PRIDEi Q9UKX2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000245503 ; ENSP00000245503 ; ENSG00000125414 .
ENST00000397183 ; ENSP00000380367 ; ENSG00000125414 .
GeneIDi 4620.
KEGGi hsa:4620.
UCSCi uc002gmp.4. human.

Organism-specific databases

CTDi 4620.
GeneCardsi GC17M010427.
HGNCi HGNC:7572. MYH2.
HPAi CAB010760.
HPA001239.
HPA001349.
MIMi 160740. gene.
605637. phenotype.
neXtProti NX_Q9UKX2.
Orphaneti 363677. Childhood-onset autosomal recessive myopathy with external ophthalmoplegia.
79091. Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia.
PharmGKBi PA31369.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5022.
HOGENOMi HOG000173959.
HOVERGENi HBG004704.
InParanoidi Q9UKX2.
KOi K10352.
OMAi QITSNRK.
PhylomeDBi Q9UKX2.
TreeFami TF314375.

Enzyme and pathway databases

Reactomei REACT_147867. Translocation of GLUT4 to the plasma membrane.
REACT_160086. Regulation of actin dynamics for phagocytic cup formation.

Miscellaneous databases

GeneWikii MYH2.
GenomeRNAii 4620.
NextBioi 17784.
PROi Q9UKX2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UKX2.
Bgeei Q9UKX2.
CleanExi HS_MYH2.
Genevestigatori Q9UKX2.

Family and domain databases

Gene3Di 4.10.270.10. 1 hit.
InterProi IPR000048. 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 ]
Pfami PF00063. Myosin_head. 1 hit.
PF02736. Myosin_N. 1 hit.
PF01576. Myosin_tail_1. 1 hit.
[Graphical view ]
PRINTSi PR00193. MYOSINHEAVY.
SMARTi SM00015. IQ. 1 hit.
SM00242. MYSc. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
PROSITEi PS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiMYH2_HUMAN
AccessioniPrimary (citable) accession number: Q9UKX2
Secondary accession number(s): A0AVL4
, Q14322, Q16229, Q86T56
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 1, 2000
Last modified: September 3, 2014
This is version 135 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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