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Q9UKX2

- MYH2_HUMAN

UniProt

Q9UKX2 - MYH2_HUMAN

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Protein

Myosin-2

Gene

MYH2

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).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

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. cell-cell junction Source: Ensembl
  4. cytosol Source: Reactome
  5. Golgi apparatus Source: Ensembl
  6. muscle myosin complex Source: UniProtKB
  7. myofibril Source: BHF-UCL
  8. myosin filament Source: UniProtKB-KW
  9. protein complex Source: LIFEdb
  10. 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.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

BgeeiQ9UKX2.
CleanExiHS_MYH2.
ExpressionAtlasiQ9UKX2. baseline and differential.
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.
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.
GeneTreeiENSGT00760000118919.
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

        10         20         30         40         50
MSSDSELAVF GEAAPFLRKS ERERIEAQNR PFDAKTSVFV AEPKESFVKG
60 70 80 90 100
TIQSREGGKV TVKTEGGATL TVKDDQVFPM NPPKYDKIED MAMMTHLHEP
110 120 130 140 150
AVLYNLKERY AAWMIYTYSG LFCVTVNPYK WLPVYKPEVV TAYRGKKRQE
160 170 180 190 200
APPHIFSISD NAYQFMLTDR ENQSILITGE SGAGKTVNTK RVIQYFATIA
210 220 230 240 250
VTGEKKKEEI TSGKIQGTLE DQIISANPLL EAFGNAKTVR NDNSSRFGKF
260 270 280 290 300
IRIHFGTTGK LASADIETYL LEKSRVVFQL KAERSYHIFY QITSNKKPEL
310 320 330 340 350
IEMLLITTNP YDYPFVSQGE ISVASIDDQE ELMATDSAID ILGFTNEEKV
360 370 380 390 400
SIYKLTGAVM HYGNLKFKQK QREEQAEPDG TEVADKAAYL QSLNSADLLK
410 420 430 440 450
ALCYPRVKVG NEYVTKGQTV EQVSNAVGAL AKAVYEKMFL WMVARINQQL
460 470 480 490 500
DTKQPRQYFI GVLDIAGFEI FDFNSLEQLC INFTNEKLQQ FFNHHMFVLE
510 520 530 540 550
QEEYKKEGIE WTFIDFGMDL AACIELIEKP MGIFSILEEE CMFPKATDTS
560 570 580 590 600
FKNKLYDQHL GKSANFQKPK VVKGKAEAHF ALIHYAGVVD YNITGWLEKN
610 620 630 640 650
KDPLNETVVG LYQKSAMKTL AQLFSGAQTA EGEGAGGGAK KGGKKKGSSF
660 670 680 690 700
QTVSALFREN LNKLMTNLRS THPHFVRCII PNETKTPGAM EHELVLHQLR
710 720 730 740 750
CNGVLEGIRI CRKGFPSRIL YADFKQRYKV LNASAIPEGQ FIDSKKASEK
760 770 780 790 800
LLASIDIDHT QYKFGHTKVF FKAGLLGLLE EMRDDKLAQL ITRTQARCRG
810 820 830 840 850
FLARVEYQRM VERREAIFCI QYNIRSFMNV KHWPWMKLFF KIKPLLKSAE
860 870 880 890 900
TEKEMATMKE EFQKIKDELA KSEAKRKELE EKMVTLLKEK NDLQLQVQAE
910 920 930 940 950
AEGLADAEER CDQLIKTKIQ LEAKIKEVTE RAEDEEEINA ELTAKKRKLE
960 970 980 990 1000
DECSELKKDI DDLELTLAKV EKEKHATENK VKNLTEEMAG LDETIAKLTK
1010 1020 1030 1040 1050
EKKALQEAHQ QTLDDLQAEE DKVNTLTKAK IKLEQQVDDL EGSLEQEKKL
1060 1070 1080 1090 1100
RMDLERAKRK LEGDLKLAQE SIMDIENEKQ QLDEKLKKKE FEISNLQSKI
1110 1120 1130 1140 1150
EDEQALGIQL QKKIKELQAR IEELEEEIEA ERASRAKAEK QRSDLSRELE
1160 1170 1180 1190 1200
EISERLEEAG GATSAQIEMN KKREAEFQKM RRDLEEATLQ HEATAATLRK
1210 1220 1230 1240 1250
KHADSVAELG EQIDNLQRVK QKLEKEKSEM KMEIDDLASN VETVSKAKGN
1260 1270 1280 1290 1300
LEKMCRTLED QLSELKSKEE EQQRLINDLT AQRGRLQTES GEFSRQLDEK
1310 1320 1330 1340 1350
EALVSQLSRG KQAFTQQIEE LKRQLEEEIK AKNALAHALQ SSRHDCDLLR
1360 1370 1380 1390 1400
EQYEEEQESK AELQRALSKA NTEVAQWRTK YETDAIQRTE ELEEAKKKLA
1410 1420 1430 1440 1450
QRLQAAEEHV EAVNAKCASL EKTKQRLQNE VEDLMLDVER TNAACAALDK
1460 1470 1480 1490 1500
KQRNFDKILA EWKQKCEETH AELEASQKEA RSLGTELFKI KNAYEESLDQ
1510 1520 1530 1540 1550
LETLKRENKN LQQEISDLTE QIAEGGKRIH ELEKIKKQVE QEKCELQAAL
1560 1570 1580 1590 1600
EEAEASLEHE EGKILRIQLE LNQVKSEVDR KIAEKDEEID QLKRNHIRIV
1610 1620 1630 1640 1650
ESMQSTLDAE IRSRNDAIRL KKKMEGDLNE MEIQLNHANR MAAEALRNYR
1660 1670 1680 1690 1700
NTQGILKDTQ IHLDDALRSQ EDLKEQLAMV ERRANLLQAE IEELRATLEQ
1710 1720 1730 1740 1750
TERSRKIAEQ ELLDASERVQ LLHTQNTSLI NTKKKLETDI SQMQGEMEDI
1760 1770 1780 1790 1800
LQEARNAEEK AKKAITDAAM MAEELKKEQD TSAHLERMKK NMEQTVKDLQ
1810 1820 1830 1840 1850
LRLDEAEQLA LKGGKKQIQK LEARVRELEG EVESEQKRNA EAVKGLRKHE
1860 1870 1880 1890 1900
RRVKELTYQT EEDRKNILRL QDLVDKLQAK VKSYKRQAEE AEEQSNTNLA
1910 1920 1930 1940
KFRKLQHELE EAEERADIAE SQVNKLRVKS REVHTKVISE E
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:
EMBLi
GenBanki
DDBJi
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. [Q9UKX2-1]
PIRiI51912.
RefSeqiNP_001093582.1. NM_001100112.1. [Q9UKX2-1]
NP_060004.3. NM_017534.5. [Q9UKX2-1]
UniGeneiHs.667534.

Genome annotation databases

EnsembliENST00000245503; ENSP00000245503; ENSG00000125414. [Q9UKX2-1]
ENST00000397183; ENSP00000380367; ENSG00000125414. [Q9UKX2-1]
ENST00000532183; ENSP00000433944; ENSG00000125414. [Q9UKX2-2]
ENST00000622564; ENSP00000482463; ENSG00000125414. [Q9UKX2-2]
GeneIDi4620.
KEGGihsa:4620.
UCSCiuc002gmp.4. human. [Q9UKX2-1]

Polymorphism databases

DMDMi13431716.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [Q9UKX2-1 ]
PIRi I51912.
RefSeqi NP_001093582.1. NM_001100112.1. [Q9UKX2-1 ]
NP_060004.3. NM_017534.5. [Q9UKX2-1 ]
UniGenei Hs.667534.

3D structure databases

ProteinModelPortali Q9UKX2.
SMRi Q9UKX2. Positions 4-969.
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 . [Q9UKX2-1 ]
ENST00000397183 ; ENSP00000380367 ; ENSG00000125414 . [Q9UKX2-1 ]
ENST00000532183 ; ENSP00000433944 ; ENSG00000125414 . [Q9UKX2-2 ]
ENST00000622564 ; ENSP00000482463 ; ENSG00000125414 . [Q9UKX2-2 ]
GeneIDi 4620.
KEGGi hsa:4620.
UCSCi uc002gmp.4. human. [Q9UKX2-1 ]

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.
GeneTreei ENSGT00760000118919.
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

Bgeei Q9UKX2.
CleanExi HS_MYH2.
ExpressionAtlasi Q9UKX2. baseline and differential.
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] (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: November 26, 2014
This is version 138 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