Q9UKX2 (MYH2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	MYH2
Synonyms:	MYHSA2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1941 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › myofibril. 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	Contains 1 IQ domain. Contains 1 myosin head-like domain.
Caution	Represents a conventional myosin. This protein should not be confused with the unconventional myosin-2 (MYO2).

Ontologies

Keywords
Cellular component	Cytoplasm Thick filament
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Coiled coil
Ligand	ATP-binding Actin-binding Calmodulin-binding Nucleotide-binding
Molecular function	Motor protein Muscle protein Myosin
PTM	Methylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	muscle filament sliding Non-traceable author statement PubMed 3904738. Source: BHF-UCL plasma membrane repair Inferred from electronic annotation. Source: Compara response to activity Inferred from electronic annotation. Source: Compara
Cellular_component	A band Inferred from electronic annotation. Source: Compara Golgi apparatus Inferred from electronic annotation. Source: Compara actomyosin contractile ring Inferred from electronic annotation. Source: Compara focal adhesion Inferred from direct assay. Source: HPA muscle myosin complex Traceable author statement Ref.1. Source: UniProtKB myosin filament Inferred from electronic annotation. Source: UniProtKB-KW nucleolus Inferred from direct assay. Source: HPA sarcomere Non-traceable author statement PubMed 3904738. Source: BHF-UCL
Molecular_function	ATP binding Non-traceable author statement. Source: UniProtKB actin binding Non-traceable author statement. Source: UniProtKB calmodulin binding Non-traceable author statement. Source: UniProtKB microfilament motor activity Traceable author statement Ref.1. Source: UniProtKB structural constituent of muscle Non-traceable author statement PubMed 3904738. Source: BHF-UCL
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1941	1941	Myosin-2		PRO_0000123393
Regions
	Domain	1 – 786	786	Myosin head-like
	Domain	787 – 816	30	IQ
	Nucleotide binding	179 – 186	8	ATP Potential
	Region	661 – 683	23	Actin-binding By similarity
	Region	763 – 777	15	Actin-binding By similarity
	Coiled coil	845 – 1941	1097	Potential
Amino acid modifications
	Modified residue	130	1	N6,N6,N6-trimethyllysine Potential
Natural variations
	Natural variant	706	1	E → K in IBM3. Ref.7		VAR_032630
	Natural variant	970	1	V → I in one patient with familial myopathy; unknown pathological significance. Ref.8		VAR_032631
	Natural variant	1061	1	L → V. Ref.8		VAR_032632
	Natural variant	1927	1	R → Q. Corresponds to variant rs34161789 [ dbSNP | Ensembl ].		VAR_032633
Experimental info
	Sequence conflict	150	1	E → G in CAD91136. Ref.2
	Sequence conflict	1844	1	K → R in CAA83687. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q9UKX2 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 681E866F83AEA83F	FASTA	1,941	223,044
	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

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00007856.
PIR	I51912.
RefSeq	NP_001093582.1. NM_001100112.1. NP_060004.3. NM_017534.5.
UniGene	Hs.667534.
3D structure databases
ProteinModelPortal	Q9UKX2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UKX2. 2 interactions.
STRING	9606.ENSP00000245503.
PTM databases
PhosphoSite	Q9UKX2.
Polymorphism databases
DMDM	13431716.
2D gel databases
UCD-2DPAGE	Q9UKX2.
Proteomic databases
PaxDb	Q9UKX2.
PRIDE	Q9UKX2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000245503; ENSP00000245503; ENSG00000125414. ENST00000397183; ENSP00000380367; ENSG00000125414.
GeneID	4620.
KEGG	hsa:4620.
UCSC	uc002gmp.4. human.
Organism-specific databases
CTD	4620.
GeneCards	GC17M010347.
HGNC	HGNC:7572. MYH2.
HPA	CAB010760. HPA001239. HPA001349.
MIM	160740. gene. 605637. phenotype.
neXtProt	NX_Q9UKX2.
Orphanet	79091. Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia.
PharmGKB	PA31369.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5022.
HOGENOM	HOG000173959.
HOVERGEN	HBG004704.
InParanoid	Q9UKX2.
KO	K10352.
OMA	QITSNRK.
OrthoDB	EOG43N7BR.
PhylomeDB	Q9UKX2.
Enzyme and pathway databases
Pathway_Interaction_DB	amb2_neutrophils_pathway. amb2 Integrin signaling.
Reactome	REACT_11123. Membrane Trafficking.
Gene expression databases
ArrayExpress	Q9UKX2.
Bgee	Q9UKX2.
CleanEx	HS_MYH2.
Genevestigator	Q9UKX2.
GermOnline	ENSG00000125414. Homo sapiens.
Family and domain databases
InterPro	IPR000048. IQ_motif_EF-hand-BS. IPR015650. Myosin_1/23/4/7/8/13/15. IPR001609. Myosin_head_motor_dom. IPR004009. Myosin_N. IPR002928. Myosin_tail. [Graphical view]
PANTHER	PTHR13140:SF22. PTHR13140:SF22. 1 hit.
Pfam	PF00063. Myosin_head. 1 hit. PF02736. Myosin_N. 1 hit. PF01576. Myosin_tail_1. 1 hit. [Graphical view]
PRINTS	PR00193. MYOSINHEAVY.
SMART	SM00015. IQ. 1 hit. SM00242. MYSc. 1 hit. [Graphical view]
PROSITE	PS50096. IQ. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4620.
NextBio	17784.
SOURCE	Search...

Entry information

Entry name

MYH2_HUMAN

Accession

Primary (citable) accession number: Q9UKX2
Secondary accession number(s): A0AVL4 , Q14322, Q16229, Q86T56

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 121 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.