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2025-05-09 17:24:31, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001100112 6163 bp mRNA linear PRI 24-JUN-2013
DEFINITION Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2),
transcript variant 2, mRNA.
ACCESSION NM_001100112
VERSION NM_001100112.1 GI:153791585
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 6163)
AUTHORS van den Dries,K., Meddens,M.B., de Keijzer,S., Shekhar,S.,
Subramaniam,V., Figdor,C.G. and Cambi,A.
TITLE Interplay between myosin IIA-mediated contractility and actin
network integrity orchestrates podosome composition and
oscillations
JOURNAL Nat Commun 4, 1412 (2013)
PUBMED 23361003
REMARK GeneRIF: A previously unrecognized interplay between actin and
myosin IIA in podosomes, is demonstrated.
REFERENCE 2 (bases 1 to 6163)
AUTHORS Wang,L., Zhang,J., Fu,W., Guo,D., Jiang,J. and Wang,Y.
TITLE Association of smooth muscle cell phenotypes with extracellular
matrix disorders in thoracic aortic dissection
JOURNAL J. Vasc. Surg. 56 (6), 1698-1709 (2012)
PUBMED 22960022
REMARK GeneRIF: Phenotypic expression of alpha-smooth muscle actin, smooth
muscle myosin heavy chain 2, and smoothelin were significantly
decreased in the dissected media, whereas that of osteopontin was
elevated.
REFERENCE 3 (bases 1 to 6163)
AUTHORS Iresjo,B.M. and Lundholm,K.
TITLE Myosin heavy chain 2A and alpha-actin expression in human and
murine skeletal muscles at feeding; particularly amino acids
JOURNAL J Transl Med 10, 238 (2012)
PUBMED 23190566
REMARK GeneRIF: Myosin heavy chain 2A transcripts decreased significantly
in skeletal muscle tissue from overnight parenterally fed patients
but did not change significantly in orally refed mice
Publication Status: Online-Only
REFERENCE 4 (bases 1 to 6163)
AUTHORS Tajsharghi,H., Darin,N., Rekabdar,E., Kyllerman,M., Wahlstrom,J.,
Martinsson,T. and Oldfors,A.
TITLE Mutations and sequence variation in the human myosin heavy chain
IIa gene (MYH2)
JOURNAL Eur. J. Hum. Genet. 13 (5), 617-622 (2005)
PUBMED 15741996
REMARK GeneRIF: analysis of normal variation indicates that there is
strong selective pressure against mutations in MYH2; On the basis
of these results, we suggest that MyHC genes should be regarded as
candidate genes in hereditary myopathies of unknown etiology.
REFERENCE 5 (bases 1 to 6163)
AUTHORS Martinsson,T., Oldfors,A., Darin,N., Berg,K., Tajsharghi,H.,
Kyllerman,M. and Wahlstrom,J.
TITLE Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in
the myosin heavy chain IIa gene
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 97 (26), 14614-14619 (2000)
PUBMED 11114175
REFERENCE 6 (bases 1 to 6163)
AUTHORS Weiss,A., Schiaffino,S. and Leinwand,L.A.
TITLE Comparative sequence analysis of the complete human sarcomeric
myosin heavy chain family: implications for functional diversity
JOURNAL J. Mol. Biol. 290 (1), 61-75 (1999)
PUBMED 10388558
REFERENCE 7 (bases 1 to 6163)
AUTHORS Weiss,A., McDonough,D., Wertman,B., Acakpo-Satchivi,L.,
Montgomery,K., Kucherlapati,R., Leinwand,L. and Krauter,K.
TITLE Organization of human and mouse skeletal myosin heavy chain gene
clusters is highly conserved
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (6), 2958-2963 (1999)
PUBMED 10077619
REFERENCE 8 (bases 1 to 6163)
AUTHORS Smerdu,V., Karsch-Mizrachi,I., Campione,M., Leinwand,L. and
Schiaffino,S.
TITLE Type IIx myosin heavy chain transcripts are expressed in type IIb
fibers of human skeletal muscle
JOURNAL Am. J. Physiol. 267 (6 PT 1), C1723-C1728 (1994)
PUBMED 7545970
REFERENCE 9 (bases 1 to 6163)
AUTHORS Schwartz,C.E., McNally,E., Leinwand,L. and Skolnick,M.H.
TITLE A polymorphic human myosin heavy chain locus is linked to an
anonymous single copy locus (D17S1) at 17p13
JOURNAL Cytogenet. Cell Genet. 43 (1-2), 117-120 (1986)
PUBMED 2877813
REFERENCE 10 (bases 1 to 6163)
AUTHORS Barton,P.J. and Buckingham,M.E.
TITLE The myosin alkali light chain proteins and their genes
JOURNAL Biochem. J. 231 (2), 249-261 (1985)
PUBMED 3904738
REMARK Review article
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA765261.1, BC126409.1 and
BC093082.1.
Summary: Myosins are actin-based motor proteins that function in
the generation of mechanical force in eukaryotic cells. Muscle
myosins are heterohexamers composed of 2 myosin heavy chains and 2
pairs of nonidentical myosin light chains. This gene encodes a
member of the class II or conventional myosin heavy chains, and
functions in skeletal muscle contraction. This gene is found in a
cluster of myosin heavy chain genes on chromosome 17. A mutation in
this gene results in inclusion body myopathy-3. Multiple
alternatively spliced variants, encoding the same protein, have
been identified. [provided by RefSeq, Sep 2009].
Transcript Variant: This variant (2) differs in the 5' UTR compared
to variant 1. Both variants encode the same protein.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
CDS exon combination :: BX510904.2, AF111784.1 [ECO:0000331]
RNAseq introns :: mixed/partial sample support ERS025081,
ERS025083 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-380 DA765261.1 1-380
381-5977 BC126409.1 324-5920
5978-6163 BC093082.1 2224-2409
FEATURES Location/Qualifiers
source 1..6163
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17p13.1"
gene 1..6163
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/note="myosin, heavy chain 2, skeletal muscle, adult"
/db_xref="GeneID:4620"
/db_xref="HGNC:7572"
/db_xref="MIM:160740"
exon 1..65
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 66..108
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
misc_feature 102..104
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/note="upstream in-frame stop codon"
exon 109..332
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
CDS 129..5954
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/note="myosin, heavy polypeptide 2, skeletal muscle,
adult; type IIA myosin heavy chain; fast 2a myosin heavy
chain; myosin heavy chain 2; myosin heavy chain 2a; myosin
heavy chain IIa; myosin heavy chain, skeletal muscle,
adult 2"
/codon_start=1
/product="myosin-2"
/protein_id="NP_001093582.1"
/db_xref="GI:153791586"
/db_xref="CCDS:CCDS11156.1"
/db_xref="GeneID:4620"
/db_xref="HGNC:7572"
/db_xref="MIM:160740"
/translation="
MSSDSELAVFGEAAPFLRKSERERIEAQNRPFDAKTSVFVAEPKESFVKGTIQSREGGKVTVKTEGGATLTVKDDQVFPMNPPKYDKIEDMAMMTHLHEPAVLYNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYKPEVVTAYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAVTGEKKKEEITSGKIQGTLEDQIISANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVVFQLKAERSYHIFYQITSNKKPELIEMLLITTNPYDYPFVSQGEISVASIDDQEELMATDSAIDILGFTNEEKVSIYKLTGAVMHYGNLKFKQKQREEQAEPDGTEVADKAAYLQSLNSADLLKALCYPRVKVGNEYVTKGQTVEQVSNAVGALAKAVYEKMFLWMVARINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEECMFPKATDTSFKNKLYDQHLGKSANFQKPKVVKGKAEAHFALIHYAGVVDYNITGWLEKNKDPLNETVVGLYQKSAMKTLAQLFSGAQTAEGEGAGGGAKKGGKKKGSSFQTVSALFRENLNKLMTNLRSTHPHFVRCIIPNETKTPGAMEHELVLHQLRCNGVLEGIRICRKGFPSRILYADFKQRYKVLNASAIPEGQFIDSKKASEKLLASIDIDHTQYKFGHTKVFFKAGLLGLLEEMRDDKLAQLITRTQARCRGFLARVEYQRMVERREAIFCIQYNIRSFMNVKHWPWMKLFFKIKPLLKSAETEKEMATMKEEFQKIKDELAKSEAKRKELEEKMVTLLKEKNDLQLQVQAEAEGLADAEERCDQLIKTKIQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLTEEMAGLDETIAKLTKEKKALQEAHQQTLDDLQAEEDKVNTLTKAKIKLEQQVDDLEGSLEQEKKLRMDLERAKRKLEGDLKLAQESIMDIENEKQQLDEKLKKKEFEISNLQSKIEDEQALGIQLQKKIKELQARIEELEEEIEAERASRAKAEKQRSDLSRELEEISERLEEAGGATSAQIEMNKKREAEFQKMRRDLEEATLQHEATAATLRKKHADSVAELGEQIDNLQRVKQKLEKEKSEMKMEIDDLASNVETVSKAKGNLEKMCRTLEDQLSELKSKEEEQQRLINDLTAQRGRLQTESGEFSRQLDEKEALVSQLSRGKQAFTQQIEELKRQLEEEIKAKNALAHALQSSRHDCDLLREQYEEEQESKAELQRALSKANTEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQAAEEHVEAVNAKCASLEKTKQRLQNEVEDLMLDVERTNAACAALDKKQRNFDKILAEWKQKCEETHAELEASQKEARSLGTELFKIKNAYEESLDQLETLKRENKNLQQEISDLTEQIAEGGKRIHELEKIKKQVEQEKCELQAALEEAEASLEHEEGKILRIQLELNQVKSEVDRKIAEKDEEIDQLKRNHIRIVESMQSTLDAEIRSRNDAIRLKKKMEGDLNEMEIQLNHANRMAAEALRNYRNTQGILKDTQIHLDDALRSQEDLKEQLAMVERRANLLQAEIEELRATLEQTERSRKIAEQELLDASERVQLLHTQNTSLINTKKKLETDISQMQGEMEDILQEARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTVKDLQLRLDEAEQLALKGGKKQIQKLEARVRELEGEVESEQKRNAEAVKGLRKHERRVKELTYQTEEDRKNILRLQDLVDKLQAKVKSYKRQAEEAEEQSNTNLAKFRKLQHELEEAEERADIAESQVNKLRVKSREVHTKVISEE
"
misc_feature 231..356
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/note="Myosin N-terminal SH3-like domain; Region:
Myosin_N; pfam02736"
/db_xref="CDD:111612"
misc_feature 369..2480
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/note="Myosin. Large ATPases; Region: MYSc; smart00242"
/db_xref="CDD:197599"
misc_feature 372..2477
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/note="Myosin motor domain, type II myosins. Myosin II
mediates cortical contraction in cell motility, and is the
motor in smooth and skeletal muscle. This catalytic (head)
domain has ATPase activity and belongs to the larger group
of P-loop NTPases. Myosins...; Region: MYSc_type_II;
cd01377"
/db_xref="CDD:30099"
misc_feature order(507..518,522..527,669..692)
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/note="ATP-binding site [chemical binding]; other site"
/db_xref="CDD:30099"
misc_feature 855..872
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/note="switch I region; other site"
/db_xref="CDD:30099"
misc_feature 1521..1544
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/note="switch II region; other site"
/db_xref="CDD:30099"
misc_feature order(1605..1640,1647..1676)
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/note="relay loop; other site"
/db_xref="CDD:30099"
misc_feature 2109..2177
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UKX2.1);
Region: Actin-binding (By similarity)"
misc_feature 2229..2273
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/note="SH1 helix; other site"
/db_xref="CDD:30099"
misc_feature order(2268..2273,2280..2282,2298..2300,2307..2312,
2319..2321,2412..2414,2421..2423,2427..2432,2436..2444,
2454..2456,2463..2471)
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/note="converter subdomain; other site"
/db_xref="CDD:30099"
misc_feature 2415..2459
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UKX2.1);
Region: Actin-binding (By similarity)"
misc_feature 3405..5921
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/note="Myosin tail; Region: Myosin_tail_1; pfam01576"
/db_xref="CDD:144972"
exon 333..476
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 477..633
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 634..661
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 662..776
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 777..869
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 870..933
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 934..1032
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 1033..1136
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 1137..1275
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 1276..1394
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 1395..1544
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 1545..1715
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 1716..2025
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 2026..2102
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 2103..2190
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 2191..2308
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 2309..2432
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 2433..2569
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 2570..2825
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 2826..3068
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 3069..3245
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
STS 3189..3315
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/standard_name="D17S1498E"
/db_xref="UniSTS:151703"
exon 3246..3391
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 3392..3482
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 3483..3872
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
STS 3498..3630
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/standard_name="D17S1497E"
/db_xref="UniSTS:151702"
exon 3873..3999
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
variation 3881
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1139428"
variation 3905
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1139429"
variation 3921
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1139430"
variation 3927
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1139431"
variation 3965
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1139432"
variation 3968
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1139433"
variation 3971
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1062469"
variation 3989
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1139434"
exon 4000..4118
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
variation 4004
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1139436"
variation 4006
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1139437"
variation 4019
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1139438"
variation 4037
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1139439"
variation 4040
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1139440"
variation 4043
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1139441"
variation 4055
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1139442"
variation 4073
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1139443"
STS 4113..4243
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/standard_name="RH98750"
/db_xref="UniSTS:85561"
exon 4119..4315
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
variation 4160
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1042074"
variation 4243
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1042075"
variation 4271
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1042076"
exon 4316..4499
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 4500..4665
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 4666..4790
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 4791..5099
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
variation 4967
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1042185"
variation 5075
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:3181659"
variation 5089
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1126556"
STS 5094..5242
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/standard_name="D17S1493E"
/db_xref="UniSTS:151698"
exon 5100..5303
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
variation 5162
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1042236"
exon 5304..5429
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
variation 5345
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1042297"
variation 5357
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1042299"
variation 5360
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1042300"
variation 5378
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1062504"
variation 5379
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1062507"
variation 5405
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1126619"
exon 5430..5600
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
variation 5480
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1042314"
exon 5601..5705
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
exon 5706..5801
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
STS 5791..6023
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/standard_name="D17S1489E"
/db_xref="UniSTS:151693"
STS 5798..5941
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/standard_name="RH65760"
/db_xref="UniSTS:19394"
exon 5802..6086
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/inference="alignment:Splign:1.39.8"
STS 5854..6023
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/standard_name="D17S1489E"
/db_xref="UniSTS:151693"
variation 5908
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:34161789"
STS 5919..6063
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
/standard_name="RH71315"
/db_xref="UniSTS:34929"
polyA_signal 6057..6062
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
polyA_site 6086
/gene="MYH2"
/gene_synonym="MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2"
ORIGIN
aggacgggcctttcaagagggacactggtcacaccgcccagtgtcagcagcagctgctagttctgaactgtctcactcccaggctacatcttctcacttgctaacaaggacctctgagttcagcagccatgagttcagactcagaattggctgtttttggggaggctgctcctttcctccgaaagtctgaaagggagcgcattgaggcccagaataggccctttgatgccaaaacatctgtctttgtggcggagcccaaagaatcctttgtcaaagggaccatccagagcagagaaggaggaaaagtgacggtgaagactgagggaggagcgactctgacagtgaaggatgatcaggtcttccccatgaaccctcccaaatatgacaagatcgaggatatggccatgatgactcatctgcatgagcctgctgtgctgtacaacctcaaagaacgttatgcagcctggatgatctacacctattcaggtctcttctgtgtcactgtcaacccctacaagtggctgcctgtgtataagcccgaggtggtgacagcctaccgaggcaaaaagcgccaggaggccccgccccacatcttctccatctctgacaacgcctatcagttcatgctgactgaccgagagaatcagtcaatcctgatcactggagaatctggtgcagggaagactgtgaacaccaagcgtgtcatccagtactttgcaacaattgcagttactggtgagaagaagaaggaagaaattacttctggcaaaatacaggggactctggaagatcaaatcatcagtgccaaccccctactggaggcctttggcaacgccaagaccgtgaggaatgacaactcctctcgctttggtaaattcatcagaatccactttggcactactggaaaactggcatctgctgatattgaaacatatctgctagagaagtctagagttgttttccagcttaaggctgagagaagttatcatattttttaccagattacatcgaataagaaaccagaacttattgaaatgcttctgattaccacgaacccatatgattacccatttgtcagtcaaggggagatcagtgtggccagcatcgatgatcaggaagaactgatggccacagatagtgctattgatattttgggctttactaatgaagaaaaggtctccatttacaagctcacgggggctgtgatgcattatgggaacctaaaatttaagcaaaagcagcgtgaggagcaagcagagccagatggcacagaagttgctgacaaggcggcctacctccagagtctgaactctgcagatctgctcaaagctctctgctaccccagggtcaaggtcggcaatgagtatgtcaccaaaggccagactgtagaacaggtgtccaacgcagtaggtgctctggccaaagccgtctacgagaagatgttcctgtggatggttgcccgcatcaaccagcagctggacaccaagcagcccaggcagtacttcatcggggtcttggacattgctggttttgagatttttgatttcaacagcctggagcagctgtgcatcaacttcaccaatgagaaactgcaacagtttttcaaccaccacatgttcgtgctggagcaggaggagtacaagaaggaaggcatcgagtggacgttcatcgacttcgggatggacctggctgcctgcatcgagctcatcgagaagcctatgggcatcttctccatcctggaagaggagtgcatgttccctaaggcaacagacacctccttcaagaacaagctgtatgaccagcacctgggcaagtctgccaacttccagaagcccaaggtggtcaaaggcaaggccgaggcccacttcgctctgattcactatgctggtgttgtggactacaacattactggctggctggagaagaacaaggaccccctgaatgagaccgtggttggactgtaccagaagtctgcaatgaaaactctagctcagctcttctctggggctcaaactgctgaaggagagggagctggtggaggggccaagaaaggtggtaagaagaagggctcttctttccagacagtgtctgcccttttcagagagaatttgaacaagctgatgaccaacctcaggagtacccatcctcactttgtgaggtgtatcatccccaatgagacaaaaactcctggtgccatggagcatgagcttgtcctccaccagctgaggtgtaacggtgtgctggaaggcatccgcatctgtaggaaaggatttccaagcagaatcctttatgcagacttcaaacagagatacaaggtattaaatgcaagtgcaatccctgaagggcaattcattgatagcaagaaggcctctgagaagctccttgcatccatcgacattgaccacacccagtataaatttgggcacaccaaggtctttttcaaagctggtcttctggggctcctagaggagatgcgagatgacaagctggcccagctgattacccgaacccaggccaggtgcagagggttcttggcaagagtggagtaccagaggatggtggagagaagggaggccatcttctgtatccagtacaatatcagatccttcatgaatgtcaagcactggccctggatgaaactcttcttcaagatcaagcctctgttgaagagtgcagaaactgagaaggagatggccaccatgaaggaagaatttcagaaaattaaagacgaacttgccaagtcagaggcaaaaaggaaggaactggaagaaaagatggtgacgctgttgaaagaaaaaaatgacttgcagctccaagttcaggctgaagccgaaggcttggctgatgcagaggaaaggtgtgaccagctaatcaaaaccaaaatccagctagaagccaaaatcaaagaggtgactgagagagctgaggatgaggaagagatcaatgctgagctgacagccaagaagaggaaactggaggatgaatgttcagaactcaagaaagacattgatgaccttgagctgacactggccaaggttgagaaggagaaacatgccacagaaaacaaggtgaaaaacctcacagaagagatggcaggtctggatgaaaccattgctaagctgaccaaggagaagaaggctctccaggaggcccaccagcagaccctggatgacctgcaggcagaggaggacaaagtcaacaccctgaccaaagctaaaatcaaacttgaacaacaagtggatgatcttgaagggtccttggagcaagaaaagaaacttcgcatggacctagaaagggctaagaggaaacttgagggtgacttgaagttggcccaagaatccataatggacattgaaaatgagaaacagcaacttgatgaaaagctcaaaaagaaagagtttgaaatcagcaatctgcaaagcaagattgaagatgaacaggcacttggcattcaattgcagaagaaaattaaagaattgcaagcccgcattgaggagctggaggaggaaatcgaggcagagcgggcctcccgggccaaagcagagaagcagcgctctgacctctcccgggagctggaggagatcagcgagaggctggaagaagccggtggggccacttcagcccagattgagatgaacaagaagcgggaggctgagttccagaaaatgcgcagggacctggaggaggccaccctacagcatgaagccacagcggccaccctgaggaagaagcatgcagatagtgtggccgagcttggggagcagattgacaacctgcagcgagtgaagcagaagctggagaaggagaagagtgagatgaagatggagattgatgaccttgctagtaatgtagaaacggtctccaaagccaagggaaacctagagaaaatgtgccggactctagaggaccaactgagtgaactgaaatcaaaggaagaggagcagcagcggctgatcaatgacctgactgcgcagagggggcgcctgcagactgaatctggtgagttttcacgccagcttgatgaaaaggaagctctggtgtctcagttatcaagaggcaaacaagcctttactcaacagattgaagaattaaagaggcaacttgaagaggagataaaagccaagaacgccctggcgcatgccctgcagtcttcccgccacgactgtgacctgctgcgggaacagtatgaggaggagcaggaatccaaggccgagctgcagagagcactgtccaaggccaacaccgaggttgcccaatggaggaccaaatacgagacggacgccatccagcgcacagaggagctggaggaggccaagaagaagctggcccagcggctgcaggcagctgaggaacatgtagaagctgtgaacgccaaatgtgcttccctcgaaaagacgaagcagcggctgcagaatgaggtcgaggacctcatgcttgatgtggagaggacaaatgccgcctgtgccgcccttgacaaaaagcaaaggaacttcgataagatcctggcagaatggaaacagaaatgtgaggaaacgcatgctgagcttgaggcctcccagaaggaggcccgttcccttggcactgagctgttcaagataaagaatgcctatgaggaatctttggatcagctagaaaccctgaagcgagagaacaaaaacttacagcaggagatttctgacctcacggaacagattgcagaaggagggaaacgtatccatgaactggagaaaataaagaaacaagtggaacaagaaaagtgtgaacttcaggctgctttagaagaagcagaggcatctcttgaacatgaagagggaaagatcctgcgcatccagcttgagttgaaccaagtcaagtctgaggttgataggaaaattgctgaaaaagatgaggaaattgaccagctgaagagaaaccacattagaatcgtggagtccatgcagagcacgctggatgctgagatcaggagtaggaatgatgccattaggctcaagaagaagatggagggagacctcaatgaaatggaaatccagctgaaccatgccaaccgcatggctgctgaggccctgaggaactacaggaacacccaaggcatcctcaaggatacccagatccacctggatgatgctctccggagccaggaggacctgaaggaacagctggccatggtggagcgcagagccaacctgctgcaggctgagatcgaggagctgcgggccactctggaacagacagagaggagcagaaaaatcgcagaacaggagctcctggatgccagtgagcgtgttcagctactgcacacccagaacaccagcctgatcaacaccaagaagaagctggagacagatatttcccaaatgcaaggagagatggaggacattctccaggaagcccgcaatgcagaagaaaaggccaagaaggccatcactgatgccgccatgatggctgaggagctgaagaaggagcaggacaccagcgcccacctggagcggatgaagaagaacatggagcagaccgtgaaggatctgcagctccgtctggatgaggctgagcagctggccctgaagggtgggaagaagcagatccagaaactggaggccagggtacgggagctggaaggagaggttgagagtgagcaaaagcgtaatgctgaggctgtcaaaggtctgcgcaaacatgagaggcgagtgaaggaactcacttaccagacggaagaagatagaaagaatattctcaggcttcaagatttggtagataaacttcaggcaaaagtgaaatcttataagagacaagctgaggaggctgaggaacaatccaacaccaatctagctaaattccgcaagctccagcatgagctggaggaggccgaggaacgggctgacattgctgagtcccaggtgaacaaactgcgggtgaagagccgggaggttcacacaaaagtcataagtgaagagtgatcatgtcctgatgccatggaatgactgaagacaggcacaaaatgtgacatctttggtcatttccctctgtaattattgtgtattctaccctgttgcaaaggaaataaagcatagggtagtttgcaaacaataaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:4620 -> Molecular function: GO:0000146 [microfilament motor activity] evidence: TAS
GeneID:4620 -> Molecular function: GO:0003779 [actin binding] evidence: NAS
GeneID:4620 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:4620 -> Molecular function: GO:0005516 [calmodulin binding] evidence: NAS
GeneID:4620 -> Molecular function: GO:0005524 [ATP binding] evidence: NAS
GeneID:4620 -> Molecular function: GO:0008307 [structural constituent of muscle] evidence: NAS
GeneID:4620 -> Biological process: GO:0001778 [plasma membrane repair] evidence: IEA
GeneID:4620 -> Biological process: GO:0006936 [muscle contraction] evidence: IDA
GeneID:4620 -> Biological process: GO:0006936 [muscle contraction] evidence: TAS
GeneID:4620 -> Biological process: GO:0014823 [response to activity] evidence: IEA
GeneID:4620 -> Biological process: GO:0016044 [cellular membrane organization] evidence: TAS
GeneID:4620 -> Biological process: GO:0030049 [muscle filament sliding] evidence: NAS
GeneID:4620 -> Biological process: GO:0038096 [Fc-gamma receptor signaling pathway involved in phagocytosis] evidence: TAS
GeneID:4620 -> Biological process: GO:0045087 [innate immune response] evidence: TAS
GeneID:4620 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:4620 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:4620 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IEA
GeneID:4620 -> Cellular component: GO:0005826 [actomyosin contractile ring] evidence: IEA
GeneID:4620 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:4620 -> Cellular component: GO:0005859 [muscle myosin complex] evidence: NAS
GeneID:4620 -> Cellular component: GO:0005859 [muscle myosin complex] evidence: TAS
GeneID:4620 -> Cellular component: GO:0005925 [focal adhesion] evidence: IDA
GeneID:4620 -> Cellular component: GO:0030016 [myofibril] evidence: IDA
GeneID:4620 -> Cellular component: GO:0030017 [sarcomere] evidence: NAS
GeneID:4620 -> Cellular component: GO:0031672 [A band] evidence: IEA
GeneID:4620 -> Cellular component: GO:0032982 [myosin filament] evidence: IEA
GeneID:4620 -> Cellular component: GO:0043234 [protein complex] evidence: IDA
by
@meso_cacase at
DBCLS
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