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2024-04-16 14:53:43, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002472 6038 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal
(MYH8), mRNA.
ACCESSION NM_002472
VERSION NM_002472.2 GI:153945789
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 6038)
AUTHORS Bonapace,G., Ceravolo,F., Piccirillo,A., Duro,G., Strisciuglio,P.
and Concolino,D.
TITLE Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in
siblings with trismus pseudocamptodactyly
JOURNAL Am. J. Med. Genet. A 152A (11), 2898-2900 (2010)
PUBMED 20949528
REMARK GeneRIF: a family in which two out three sibs affected with trismus
pseudocamptodactyly, born from healthy nonconsanguineous parents,
were heterozygous for the c.2021G > A mutation due to a possible
germline mosaicism in MYH8
REFERENCE 2 (bases 1 to 6038)
AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
CONSRTM DREAM investigators
TITLE Variation at the NFATC2 locus increases the risk of
thiazolidinedione-induced edema in the Diabetes REduction
Assessment with ramipril and rosiglitazone Medication (DREAM) study
JOURNAL Diabetes Care 33 (10), 2250-2253 (2010)
PUBMED 20628086
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
REFERENCE 3 (bases 1 to 6038)
AUTHORS Shyy,W., Wang,K., Sheffield,V.C. and Morcuende,J.A.
TITLE Evaluation of embryonic and perinatal myosin gene mutations and the
etiology of congenital idiopathic clubfoot
JOURNAL J Pediatr Orthop 30 (3), 231-234 (2010)
PUBMED 20357587
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (bases 1 to 6038)
AUTHORS Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
CONSRTM ASCOT investigators; NORDIL investigators; BRIGHT Consortium
TITLE Gene-centric association signals for lipids and apolipoproteins
identified via the HumanCVD BeadChip
JOURNAL Am. J. Hum. Genet. 85 (5), 628-642 (2009)
PUBMED 19913121
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 6038)
AUTHORS Jullian,E.H., Kelly,A.M., Pompidou,A.J., Hoffman,R., Schiaffino,S.,
Stedman,H.H. and Rubinstein,N.A.
TITLE Characterization of a human perinatal myosin heavy-chain transcript
JOURNAL Eur. J. Biochem. 230 (3), 1001-1006 (1995)
PUBMED 7601129
REFERENCE 6 (bases 1 to 6038)
AUTHORS Soussi-Yanicostas,N., Whalen,R.G. and Petit,C.
TITLE Five skeletal myosin heavy chain genes are organized as a multigene
complex in the human genome
JOURNAL Hum. Mol. Genet. 2 (5), 563-569 (1993)
PUBMED 8518795
REFERENCE 7 (bases 1 to 6038)
AUTHORS Bober,E., Lyons,G.E., Braun,T., Cossu,G., Buckingham,M. and
Arnold,H.H.
TITLE The muscle regulatory gene, Myf-6, has a biphasic pattern of
expression during early mouse development
JOURNAL J. Cell Biol. 113 (6), 1255-1265 (1991)
PUBMED 2045411
REFERENCE 8 (bases 1 to 6038)
AUTHORS Karsch-Mizrachi,I., Feghali,R., Shows,T.B. and Leinwand,L.A.
TITLE Generation of a full-length human perinatal myosin
heavy-chain-encoding cDNA
JOURNAL Gene 89 (2), 289-294 (1990)
PUBMED 2373371
REFERENCE 9 (bases 1 to 6038)
AUTHORS Bober,E., Buchberger-Seidl,A., Braun,T., Singh,S., Goedde,H.W. and
Arnold,H.H.
TITLE Identification of three developmentally controlled isoforms of
human myosin heavy chains
JOURNAL Eur. J. Biochem. 189 (1), 55-65 (1990)
PUBMED 1691980
REFERENCE 10 (bases 1 to 6038)
AUTHORS Feghali,R. and Leinwand,L.A.
TITLE Molecular genetic characterization of a developmentally regulated
human perinatal myosin heavy chain
JOURNAL J. Cell Biol. 108 (5), 1791-1797 (1989)
PUBMED 2715179
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DB142109.1, M36769.1,
AC005323.1 and Z38133.1.
This sequence is a reference standard in the RefSeqGene project.
On Jul 26, 2007 this sequence version replaced gi:4505300.
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
predominantly expressed in fetal skeletal muscle. This gene is
found in a cluster of myosin heavy chain genes on chromosome 17. A
mutation in this gene results in trismus-pseudocamptodactyly
syndrome. [provided by RefSeq, Sep 2009].
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 :: M36769.1, Z38133.1 [ECO:0000331]
RNAseq introns :: mixed/partial sample support ERS025088
[ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-417 DB142109.1 1-417
418-808 M36769.1 396-786
809-809 AC005323.1 7723-7723 c
810-5834 Z38133.1 788-5812
5835-6038 M36769.1 5813-6016
FEATURES Location/Qualifiers
source 1..6038
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17p13.1"
gene 1..6038
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/note="myosin, heavy chain 8, skeletal muscle, perinatal"
/db_xref="GeneID:4626"
/db_xref="HGNC:7578"
/db_xref="MIM:160741"
exon 1..21
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 22..65
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 66..305
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
misc_feature 84..86
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/note="upstream in-frame stop codon"
CDS 96..5909
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/note="myosin, heavy polypeptide 8, skeletal muscle,
perinatal; fetal-myosin heavy chain; myHC-perinatal;
myosin heavy chain 8; myosin heavy chain, skeletal muscle,
perinatal"
/codon_start=1
/product="myosin-8"
/protein_id="NP_002463.2"
/db_xref="GI:153945790"
/db_xref="CCDS:CCDS11153.1"
/db_xref="GeneID:4626"
/db_xref="HGNC:7578"
/db_xref="MIM:160741"
/translation="
MSASSDAEMAVFGEAAPYLRKSEKERIEAQNKPFDAKTSVFVAEPKESYVKSTIQSKEGGKVTVKTEGGATLTVREDQVFPMNPPKYDKIEDMAMMTHLHEPGVLYNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYKPEVVAAYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAVTGEKKKDESGKMQGTLEDQIISANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKAERSYHIFYQITSNKKPDLIEMLLITTNPYDYAFVSQGEITVPSIDDQEELMATDSAIDILGFTPEEKVSIYKLTGAVMHYGNMKFKQKQREEQAEPDGTEVADKAAYLQSLNSADLLKALCYPRVKVGNEYVTKGQTVQQVYNAVGALAKAVYEKMFLWMVTRINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPLGIFSILEEECMFPKATDTSFKNKLYDQHLGKSANFQKPKVVKGKAEAHFSLIHYAGTVDYNITGWLDKNKDPLNDTVVGLYQKSAMKTLASLFSTYASAEADSSAKKGAKKKGSSFQTVSALFRENLNKLMTNLRSTHPHFVRCIIPNETKTPGAMEHELVLHQLRCNGVLEGIRICRKGFPSRILYGDFKQRYKVLNASAIPEGQFIDSKKASEKLLASIDIDHTQYKFGHTKVFFKAGLLGLLEEMRDEKLAQIITRTQAVCRGFLMRVEYQKMLQRREALFCIQYNVRAFMNVKHWPWMKLFFKIKPLLKSAETEKEMATMKEEFQKTKDELAKSEAKRKELEEKMVTLLKEKNDLQLQVQSEADSLADAEERCEQLIKNKIQLEAKIKEVTERAEEEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLTEEMAGLDETIAKLSKEKKALQETHQQTLDDLQAEEDKVNILTKAKTKLEQQVDDLEGSLEQEKKLRMDLERAKRKLEGDLKLAQESTMDMENDKQQLDEKLEKKEFEISNLISKIEDEQAVEIQLQKKIKELQARIEELGEEIEAERASRAKAEKQRSDLSRELEEISERLEEAGGATSAQVELNKKREAEFQKLRRDLEEATLQHEAMVAALRKKHADSMAELGEQIDNLQRVKQKLEKEKSELKMETDDLSSNAEAISKAKGNLEKMCRSLEDQVSELKTKEEEQQRLINDLTAQRARLQTEAGEYSRQLDEKDALVSQLSRSKQASTQQIEELKHQLEEETKAKNALAHALQSSRHDCDLLREQYEEEQEGKAELQRALSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQEAEEHVEAVNAKCASLEKTKQRLQNEVEDLMLDVERSNAACAALDKKQRNFDKVLSEWKQKYEETQAELEASQKESRSLSTELFKVKNVYEESLDQLETLRRENKNLQQEISDLTEQIAEGGKQIHELEKIKKQVEQEKCEIQAALEEAEASLEHEEGKILRIQLELNQVKSEVDRKIAEKDEEIDQLKRNHTRVVETMQSTLDAEIRSRNDALRVKKKMEGDLNEMEIQLNHANRLAAESLRNYRNTQGILKETQLHLDDALRGQEDLKEQLAIVERRANLLQAEIEELWATLEQTERSRKIAEQELLDASERVQLLHTQNTSLINTKKKLENDVSQLQSEVEEVIQESRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHRLDEAEQLALKGGKKQIQKLEARVRELEGEVENEQKRNAEAVKGLRKHERRVKELTYQTEEDRKNVLRLQDLVDKLQAKVKSYKRQAEEAEEQSNANLSKFRKLQHELEEAEERADIAESQVNKLRVKSREVHTKISAE
"
misc_feature 204..329
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/note="Myosin N-terminal SH3-like domain; Region:
Myosin_N; pfam02736"
/db_xref="CDD:111612"
misc_feature 342..2438
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/note="Myosin. Large ATPases; Region: MYSc; smart00242"
/db_xref="CDD:197599"
misc_feature 345..2435
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/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(480..491,495..500,642..665)
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/note="ATP-binding site [chemical binding]; other site"
/db_xref="CDD:30099"
misc_feature 822..839
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/note="switch I region; other site"
/db_xref="CDD:30099"
misc_feature 1488..1511
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/note="switch II region; other site"
/db_xref="CDD:30099"
misc_feature order(1572..1607,1614..1643)
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/note="relay loop; other site"
/db_xref="CDD:30099"
misc_feature 2067..2135
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P13535.3);
Region: Actin-binding"
misc_feature 2187..2231
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/note="SH1 helix; other site"
/db_xref="CDD:30099"
misc_feature order(2226..2231,2238..2240,2256..2258,2265..2270,
2277..2279,2370..2372,2379..2381,2385..2390,2394..2402,
2412..2414,2421..2429)
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/note="converter subdomain; other site"
/db_xref="CDD:30099"
misc_feature 2373..2417
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P13535.3);
Region: Actin-binding"
misc_feature 3363..5879
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/note="Myosin tail; Region: Myosin_tail_1; pfam01576"
/db_xref="CDD:144972"
exon 306..449
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 450..606
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 607..634
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 635..743
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
variation 635
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="c"
/replace="t"
/db_xref="dbSNP:34613390"
exon 744..836
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 837..900
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 901..999
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 1000..1103
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
variation 1072
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="c"
/replace="t"
/db_xref="dbSNP:34124921"
exon 1104..1242
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
variation 1128
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="a"
/replace="g"
/db_xref="dbSNP:34419805"
exon 1243..1361
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 1362..1511
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 1512..1682
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 1683..1992
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
variation 1733
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="a"
/replace="c"
/db_xref="dbSNP:1053914"
exon 1993..2060
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
variation 2002
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="c"
/replace="t"
/db_xref="dbSNP:34693726"
exon 2061..2148
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 2149..2266
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 2267..2390
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 2391..2527
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 2528..2783
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 2784..3026
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
variation 3003
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="c"
/replace="g"
/db_xref="dbSNP:1140933"
exon 3027..3203
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 3204..3349
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 3350..3440
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 3441..3830
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
variation 3781
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="c"
/replace="t"
/db_xref="dbSNP:35962914"
exon 3831..3957
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
variation 3852
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="c"
/replace="t"
/db_xref="dbSNP:34953692"
variation 3877
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="a"
/replace="g"
/db_xref="dbSNP:1063926"
exon 3958..4076
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
variation 3984
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="a"
/replace="c"
/db_xref="dbSNP:1063927"
exon 4077..4273
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
variation 4110
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="c"
/replace="t"
/db_xref="dbSNP:201987005"
exon 4274..4457
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 4458..4623
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
variation 4606
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="a"
/replace="c"
/db_xref="dbSNP:1140936"
exon 4624..4748
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
variation 4638
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="a"
/replace="c"
/db_xref="dbSNP:34564342"
exon 4749..5057
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 5058..5261
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 5262..5387
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
variation 5350
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="a"
/replace="g"
/db_xref="dbSNP:34433607"
exon 5388..5558
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
exon 5559..5663
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
variation 5636
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/replace="c"
/replace="g"
/db_xref="dbSNP:1053920"
exon 5664..5759
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
STS 5755..5986
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/standard_name="STS-M36769"
/db_xref="UniSTS:15077"
exon 5760..6038
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/inference="alignment:Splign:1.39.8"
STS 5897..6008
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
/standard_name="RH74898"
/db_xref="UniSTS:86710"
polyA_signal 6007..6012
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
polyA_signal 6011..6016
/gene="MYH8"
/gene_synonym="gtMHC-F; MyHC-peri; MyHC-pn"
ORIGIN
atttccaccaagaacccagagagtggaacacttctgaacctgcatttttatctggaactccagaggcagaatcctttgctaaataaatcgcagccatgagtgcgagctcagacgctgagatggctgtttttggcgaagctgctccctaccttcgaaaatcagaaaaggagcggattgaggcccaaaacaagccgtttgatgctaaaacatctgtctttgtggcggagcccaaggaatcctatgtgaagagcactatacaaagcaaagaaggagggaaagtaaccgtaaagactgaaggtggagcaactctaactgtcagggaagaccaagtcttccctatgaaccctccgaaatatgacaaaattgaggacatggccatgatgactcatctacacgagcctggagtgctgtacaacctcaaagagcgctatgcagcctggatgatctacacctactcaggcctcttctgtgtcaccgtcaacccctacaagtggctgccggtgtacaagcccgaggtggtggctgcctacagaggcaaaaagcgccaggaggccccgccccacatcttctccatctctgacaatgcctatcagttcatgttgactgatcgagagaatcagtccatcctgatcaccggagaatctggtgccggaaagactgtgaacaccaagcgtgtcatccaatactttgcaacaattgcagttactggagagaagaagaaggatgaatctggcaaaatgcaggggactctggaagatcaaatcatcagcgccaatcccctactggaggcctttggcaatgccaaaactgtgaggaatgacaactcctctcgctttggtaaattcattagaatccactttggtactacagggaagctggcatctgctgatatagaaacatatcttttagaaaagtccagagttactttccagctaaaggcggaaagaagctaccatattttttatcagatcacttccaataagaagccagatctaattgaaatgctcctgatcaccaccaacccatatgactatgccttcgtcagtcagggggagatcacagttcccagtattgatgaccaagaagagttgatggccactgatagtgccattgacatcctgggcttcactcctgaagagaaagtgtccatctataaactcacaggggctgtgatgcattatgggaacatgaaattcaagcaaaagcagcgtgaggagcaagctgagccagatggcacagaagtcgctgacaaggcagcctatctccagagtctgaactctgcagacctactcaaagccctctgctaccctagggtcaaggttggcaatgagtatgtcaccaaaggccagactgtgcagcaggtgtacaatgcggtgggtgctctggccaaagccgtctacgagaagatgttcctgtggatggtcacccgcatcaaccagcagctggacaccaagcagcccaggcagtacttcatcggggtcttggacattgctggctttgaaatctttgattttaacagcctggagcagctgtgcatcaacttcaccaacgagaaactgcaacagtttttcaaccaccacatgtttgtgctagagcaggaggagtacaagaaggaaggcatcgagtggacgttcattgactttgggatggacctggctgcctgcattgagctcattgagaagccactgggcatcttctccatcctggaagaggagtgcatgttccctaaggcaacggacacctccttcaagaacaagctgtatgaccagcacctgggcaagtctgccaacttccagaagcccaaggtggtcaaaggcaaggctgaggcccacttctctctgattcactatgctggcactgtggactacaacattactggctggctggacaaaaataaggaccccctgaatgatactgtggttgggctgtaccagaagtctgcaatgaagactctagccagtctcttttccacgtatgctagtgctgaagcagatagcagcgcgaagaaaggtgctaagaaaaagggctcttctttccagactgtgtctgcccttttcagggaaaatttaaataaattgatgacgaatctgaggagcacacaccctcacttcgtacggtgtatcattcccaatgaaaccaaaactcctggggcaatggaacatgaacttgtgttgcaccagctgaggtgtaatggtgtgctggaaggcatccgcatctgtaggaaaggattcccaagcagaatcttatatggtgatttcaaacaaagatacaaggttttaaatgcaagtgctattccagagggacagttcattgacagcaagaaggcttctgagaaacttcttgcatctattgatattgatcatactcaatataaatttggacataccaaggttttcttcaaagctggacttctgggtcttctggaagaaatgagagatgaaaaattagcccaaattataacaagaacacaagctgtctgtaggggattcctaatgagggtagaatatcagaagatgttgcaaaggagagaagcacttttctgcatccagtataatgtccgtgccttcatgaacgtcaagcactggccctggatgaaactctttttcaagattaagcccctcctcaagagtgcagagaccgagaaagagatggccaccatgaaggaagaattccagaaaaccaaagatgaactcgccaagtcagaggcaaaacggaaggagctagaggaaaaaatggtcactctcttaaaagagaaaaatgacctgcaactccaggttcaatctgaagcagatagcttggctgatgcagaggaaaggtgtgagcaactgattaaaaacaaaatccaacttgaggccaaaatcaaagaggtgactgaaagagctgaggaggaggaagagatcaatgctgagctgacagccaagaagagaaaactggaggatgaatgttcagaactcaagaaagacattgatgaccttgagctgacactggccaaggttgagaaggagaaacatgccacggagaacaaggtgaaaaatcttacagaagagatggcaggcctggatgaaaccattgcaaaactgtccaaggagaagaaggctctccaagagacccaccagcagaccctggatgacctgcaggcagaggaggacaaagtcaacatcctgaccaaagctaaaaccaagctagaacagcaagtggatgatcttgaagggtctctggaacaagaaaagaagcttcgaatggatctagaaagagcaaagcggaaactggagggtgacctcaaattggcccaagaatccacaatggatatggaaaatgacaaacagcaacttgatgaaaagcttgaaaagaaagaatttgaaatcagcaatttgataagcaaaattgaagatgagcaagctgtagaaattcaactacagaagaagatcaaagagttgcaggcccgcattgaggagctgggggaagaaatcgaggcagagagggcgtcccgagccaaagcggagaagcagcgctctgacctctcccgggaactggaggagatcagcgagaggctggaagaagccggtggggcaacttctgctcaggtggaattgaacaagaagcgggaggctgagtttcagaaactgcgcagggacctggaggaggccaccctgcagcatgaagctatggtggctgctcttcggaagaagcacgcagacagtatggctgagcttggggagcagattgacaacttgcagcgggtcaaacagaagctggagaaggagaagagtgagctgaagatggagactgatgacctcagcagtaacgcagaggccatttccaaagccaagggaaaccttgaaaagatgtgccgctctctagaagatcaagtgagtgagcttaagaccaaggaagaggagcagcagcggctgatcaatgacctcacagcacagagagcgcgcctgcagacagaagcgggtgaatattctcgacaattagatgagaaagatgctttagtctctcagctttcaaggagcaagcaagcatctactcagcagattgaagagctgaaacatcaactagaggaagaaactaaagccaagaacgccctggcacacgccctgcagtcctcccgccatgactgcgacctgctgcgggaacagtatgaggaagagcaggaaggcaaagctgagctgcagagggcgctgtccaaggccaacagtgaggttgcccagtggagaaccaaatacgagacggatgccatccagcgcacagaggagctggaggaggccaagaaaaagttggcccagcgcctgcaagaagctgaggaacatgtagaagctgtgaacgccaaatgtgcttcccttgagaagacgaagcagcggctccagaatgaagttgaagacctcatgcttgatgtggaaaggtctaatgcagcctgtgcagcccttgataagaagcaaaggaactttgacaaggtcctatcagaatggaagcagaagtatgaggaaactcaggctgaacttgaggcctcccagaaggagtcacgttctcttagcactgagctgttcaaggtgaagaatgtctatgaggaatccctggatcaactcgaaacgctaagaagagaaaataagaacttgcaacaggagatttctgacctcactgagcagattgcagagggaggaaagcaaattcatgaattggagaaaataaagaagcaagtagaacaagagaaatgtgaaattcaggctgctttagaggaagcagaggcatctcttgaacatgaagaaggaaagattctgcgtatccagcttgagttaaaccaagtcaagtctgaagttgatagaaaaatcgcagaaaaggatgaggaaattgaccagctgaagagaaaccacactagagtcgtggagacaatgcagagcacgctggatgcagagattagaagcagaaatgatgctctgagagtcaagaagaaaatggaaggagatctgaatgaaatggaaatccagctgaaccatgccaatcgcttagctgcagagagtttaaggaactacaggaacacccaaggaatcctgaaggaaacccagctccacctggatgatgctctccggggccaggaggacctcaaggaacagctggcaattgtggagcgcagagccaacctgctgcaggctgagatcgaggagctgtgggccactctggaacagacagagagaagcaggaaaatcgccgaacaggagctcctggatgccagtgagcgtgtccagctcctccacacccagaataccagtctcattaacaccaagaagaaattagaaaatgacgtttcccaactccaaagtgaagtggaagaagtaatccaagaatcacgcaatgcagaagagaaagccaagaaggccatcactgatgctgccatgatggctgaggagctgaagaaggaacaggacaccagcgcccacctggagcggatgaagaagaacctggagcagacggtgaaggacctgcagcatcgtctagatgaggccgagcagctggcgctgaagggtgggaagaagcagatccagaaactggaggccagggtacgtgagcttgaaggagaggttgaaaatgaacagaaacgtaatgcagaggctgttaaaggtttacggaaacatgagcgacgagtaaaagaactcacctaccagactgaagaagatcgcaagaatgttctcaggctgcaggacttggtagataaattacaggcgaaggtgaaatcatacaagagacaagctgaggaggctgaggaacaatccaatgctaatctatctaaattccgcaaactccagcatgagctggaggaggccgaggaacgggctgacattgctgagtcccaggtcaacaaattgcgagtgaagagccgagaggttcacacaaaaatcagtgcagagtaaacacacctgcctgatgctatcaagaggctgaagaaaggcacaaaatgtgctatttttggtcacttgctttatgacgtttattttcctgttaaagctgaataaataaaaactacagtaaatgtatacatt
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:4626 -> Molecular function: GO:0003774 [motor activity] evidence: IEA
GeneID:4626 -> Molecular function: GO:0003779 [actin binding] evidence: IEA
GeneID:4626 -> Molecular function: GO:0005516 [calmodulin binding] evidence: IEA
GeneID:4626 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
GeneID:4626 -> Molecular function: GO:0008307 [structural constituent of muscle] evidence: NAS
GeneID:4626 -> Biological process: GO:0006936 [muscle contraction] evidence: NAS
GeneID:4626 -> Biological process: GO:0030049 [muscle filament sliding] evidence: TAS
GeneID:4626 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:4626 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:4626 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:4626 -> Cellular component: GO:0005859 [muscle myosin complex] evidence: NAS
GeneID:4626 -> Cellular component: GO:0005925 [focal adhesion] evidence: IDA
GeneID:4626 -> Cellular component: GO:0030016 [myofibril] evidence: IEA
GeneID:4626 -> Cellular component: GO:0032982 [myosin filament] evidence: IEA
by
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DBCLS
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