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Q9UKX2

- MYH2_HUMAN

UniProt

Q9UKX2 - MYH2_HUMAN

Protein

Myosin-2

Gene

MYH2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Muscle contraction. Required for cytoskeleton organization By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi179 – 1868ATPSequence Analysis

    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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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-trimethyllysineSequence Analysis

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini86 – 784699Myosin motorAdd
    BLAST
    Domaini787 – 81630IQPROSITE-ProRule annotationAdd
    BLAST

    Region

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

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili845 – 19411097Sequence AnalysisAdd
    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.PROSITE-ProRule annotation
    Contains 1 myosin motor domain.Curated

    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]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UKX2-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « 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
    Isoform 2 (identifier: Q9UKX2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         659-1891: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:708
    Mass (Da):79,880
    Checksum:i44FD901775553881
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti150 – 1501E → G in CAD91136. (PubMed:17974005)Curated
    Sequence conflicti1844 – 18441K → R in CAA83687. (PubMed:7751403)Curated

    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

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei659 – 18911233Missing in isoform 2. 1 PublicationVSP_056291Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF111784 mRNA. Translation: AAD29950.1.
    BX510904 mRNA. Translation: CAD91136.1.
    AC005323 Genomic DNA. No translation available.
    BC093082 mRNA. Translation: AAH93082.1.
    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.
    ENST00000532183; ENSP00000433944; ENSG00000125414.
    GeneIDi4620.
    KEGGihsa:4620.
    UCSCiuc002gmp.4. human.

    Polymorphism databases

    DMDMi13431716.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF111784 mRNA. Translation: AAD29950.1 .
    BX510904 mRNA. Translation: CAD91136.1 .
    AC005323 Genomic DNA. No translation available.
    BC093082 mRNA. Translation: AAH93082.1 .
    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 .
    ENST00000532183 ; ENSP00000433944 ; 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

    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] (ISOFORM 1).
      Tissue: Skeletal muscle.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Skeletal muscle.
    3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORMS 1 AND 2).
      Tissue: Cerebellum.
    5. "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 (ISOFORM 1).
      Tissue: Skeletal muscle.
    6. "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 (ISOFORM 1).
      Tissue: Skeletal muscle.
    7. "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.
    8. "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.
    9. "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, Q567P6, Q86T56
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 136 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

    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