Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.
| RefSeq Version | NM_002473.4, 225703132 |
| Length | 7505 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. |
| Product | myosin-9 |
| Comment | Summary: This gene encodes a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain. The protein is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in MYH9 are the cause of non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. |
| RefSeq | NP_002464.1 |
| CDS | 232..6114 | Exon (1) | 1..212 | Exon (2) | 1..212 | Exon (3) | 213..564 | Exon (4) | 565..721 | Exon (5) | 722..749 | Exon (6) | 750..843 | Exon (7) | 844..936 | Exon (8) | 937..1000 | Exon (9) | 1001..1099 | Exon (10) | 1100..1243 | Exon (11) | 1244..1339 | Exon (12) | 1340..1458 | Exon (13) | 1459..1611 | Exon (14) | 1612..1785 | Exon (15) | 1786..1959 | Exon (16) | 1960..2074 | Exon (17) | 2075..2268 | Exon (18) | 2269..2390 | Exon (19) | 2391..2460 | Exon (20) | 2461..2621 | Exon (21) | 2622..2730 | Exon (22) | 2731..2862 | Exon (23) | 2863..3069 | Exon (24) | 3070..3207 | Exon (25) | 3208..3331 | Exon (26) | 3332..3503 | Exon (27) | 3504..3716 | Exon (28) | 3717..3861 | Exon (29) | 3862..4068 | Exon (30) | 4069..4173 | Exon (31) | 4174..4326 | Exon (32) | 4327..4575 | Exon (33) | 4576..4788 | Exon (34) | 4789..5001 | Exon (35) | 5002..5163 | Exon (36) | 5164..5292 | Exon (37) | 5293..5381 | Exon (38) | 5382..5505 | Exon (39) | 5506..5714 | Exon (40) | 5715..5823 | Exon (41) | 5824..5996 | Exon (42) | 5997..7505 |
| Translation | MAQQAADKYLYVDKNFINNPLAQADWAAKKLVWVPSDKSGFEPASLKEEVGEEAIVELVE
NGKKVKVNKDDIQKMNPPKFSKVEDMAELTCLNEASVLHNLKERYYSGLIYTYSGLFCVV
INPYKNLPIYSEEIVEMYKGKKRHEMPPHIYAITDTAYRSMMQDREDQSILCTGESGAGK
TENTKKVIQYLAYVASSHKSKKDQGELERQLLQANPILEAFGNAKTVKNDNSSRFGKFIR
INFDVNGYIVGANIETYLLEKSRAIRQAKEERTFHIFYYLLSGAGEHLKTDLLLEPYNKY
RFLSNGHVTIPGQQDKDMFQETMEAMRIMGIPEEEQMGLLRVISGVLQLGNIVFKKERNT
DQASMPDNTAAQKVSHLLGINVTDFTRGILTPRIKVGRDYVQKAQTKEQADFAIEALAKA
TYERMFRWLVLRINKALDKTKRQGASFIGILDIAGFEIFDLNSFEQLCINYTNEKLQQLF
NHTMFILEQEEYQREGIEWNFIDFGLDLQPCIDLIEKPAGPPGILALLDEECWFPKATDK
SFVEKVMQEQGTHPKFQKPKQLKDKADFCIIHYAGKVDYKADEWLMKNMDPLNDNIATLL
HQSSDKFVSELWKDVDRIIGLDQVAGMSETALPGAFKTRKGMFRTVGQLYKEQLAKLMAT
LRNTNPNFVRCIIPNHEKKAGKLDPHLVLDQLRCNGVLEGIRICRQGFPNRVVFQEFRQR
YEILTPNSIPKGFMDGKQACVLMIKALELDSNLYRIGQSKVFFRAGVLAHLEEERDLKIT
DVIIGFQACCRGYLARKAFAKRQQQLTAMKVLQRNCAAYLKLRNWQWWRLFTKVKPLLQV
SRQEEEMMAKEEELVKVREKQLAAENRLTEMETLQSQLMAEKLQLQEQLQAETELCAEAE
ELRARLTAKKQELEEICHDLEARVEEEEERCQHLQAEKKKMQQNIQELEEQLEEEESARQ
KLQLEKVTTEAKLKKLEEEQIILEDQNCKLAKEKKLLEDRIAEFTTNLTEEEEKSKSLAK
LKNKHEAMITDLEERLRREEKQRQELEKTRRKLEGDSTDLSDQIAELQAQIAELKMQLAK
KEEELQAALARVEEEAAQKNMALKKIRELESQISELQEDLESERASRNKAEKQKRDLGEE
LEALKTELEDTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQEMRQKHSQAVEE
LAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQGKGDSEHKRKKVEAQLQELQVK
FNEGERVRTELADKVTKLQVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEE
NRQKLSLSTKLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVADMKKKMEDSVGCL
ETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQQELDDLLVDLDHQRQSACNLE
KKQKKFDQLLAEEKTISAKYAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNK
QFRTEMEDLMSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDELQATEDAKLRLEV
NLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELEDERKQRSMAVAARKKLEMDLK
DLEAHIDSANKNRDEAIKQLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEA
EMIQLQEELAAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLEARIAQLEEELEE
EQGNTELINDRLKKANLQIDQINTDLNLERSHAQKNENARQQLERQNKELKVKLQEMEGT
VKSKYKASITALEAKIAQLEEQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQ
YKDQADKASTRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETADAMNREVSSLKNK
LRRGDLPFVVPRRMARKGAGDGSDEEVDGKADGAEAKPAE
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| Position | Chain | Variation | Link |
| complement(238) | - | g, c | dbSNP:56200894 |
| complement(1044) | - | t, c | dbSNP:112759129 |
| complement(1314) | - | g, a | dbSNP:56001030 |
| complement(1398) | - | g, a | dbSNP:114048959 |
| complement(1684) | - | g, a | dbSNP:112719772 |
| complement(1836..1837) | - | , g | dbSNP:34914499 |
| complement(1857) | - | g, a | dbSNP:7285745 |
| complement(2019) | - | g, a | dbSNP:113130911 |
| 2335 | + | c, t | dbSNP:80338826 |
| 2336 | + | a, g | dbSNP:80338827 |
| 2345 | + | a, g | dbSNP:80338828 |
| complement(2487) | - | g, a | dbSNP:9619601 |
| complement(2673) | - | t, c | dbSNP:113783861 |
| complement(2679) | - | g, a | dbSNP:113285582 |
| complement(2748) | - | t, c | dbSNP:34498733 |
| 3131 | + | a, t | dbSNP:16996652 |
| complement(3409) | - | g, a | dbSNP:56767084 |
| complement(3576) | - | t, c | dbSNP:875725 |
| complement(3641) | - | , a | dbSNP:5845264 |
| complement(3660) | - | c, a | dbSNP:710181 |
| 3724 | + | c, t | dbSNP:80338829 |
| 3725 | + | g, t | dbSNP:80338830 |
| complement(4429) | - | g, a | dbSNP:76368635 |
| complement(4432) | - | g, a | dbSNP:116972183 |
| complement(4456) | - | t, c | dbSNP:34292387 |
| 4501 | + | a, c, g, t | dbSNP:80338831 |
| complement(4638) | - | t, c | dbSNP:56258227 |
| 4794 | + | c, t | dbSNP:11549907 |
| 4826 | + | a, g | dbSNP:11549910 |
| 4831 | + | c, g | dbSNP:11549909 |
| complement(5103) | - | c, a | dbSNP:2269530 |
| 5107 | + | c, t | dbSNP:2269529 |
| complement(5130) | - | t, c | dbSNP:5756130 |
| complement(5241) | - | t, c | dbSNP:76069100 |
| complement(5267) | - | t, c | dbSNP:113188836 |
| complement(5349) | - | t, c | dbSNP:34849414 |
| complement(5412) | - | t, c | dbSNP:115170675 |
| 5752 | + | a, g | dbSNP:80338834 |
| complement(6012) | - | c, a | dbSNP:80050551 |
| 6028 | + | c, t | dbSNP:80338835 |
| complement(6046) | - | t, c | dbSNP:115031369 |
| complement(6195) | - | g, a | dbSNP:56134611 |
| complement(6250) | - | t, g | dbSNP:115869378 |
| complement(6251) | - | t, g | dbSNP:114268057 |
| complement(6352) | - | t, g, c, a | dbSNP:11703176 |
| complement(6357) | - | g, a | dbSNP:136201 |
| complement(6375) | - | g, c | dbSNP:11089787 |
| complement(6426) | - | g, a | dbSNP:16996639 |
| 6508 | + | c, g | dbSNP:11549908 |
| complement(6588) | - | g, a | dbSNP:55979529 |
| complement(6703) | - | t, c | dbSNP:116572976 |
| complement(6710) | - | t, c | dbSNP:136200 |
| 6772 | + | c, t | dbSNP:1056049 |
| complement(6800) | - | g, a | dbSNP:55994070 |
| complement(6803) | - | , g | dbSNP:35347691 |
| 6846 | + | c, t | dbSNP:12107 |
| 6914 | + | c, t | dbSNP:7078 |
| complement(7025) | - | g, a | dbSNP:76286814 |
| complement(7099) | - | g, a | dbSNP:11549912 |
| complement(7133) | - | c, a | dbSNP:112039601 |
| complement(7263..7264) | - | g, a | dbSNP:11549911 |
| complement(7263) | - | , a | dbSNP:56058205 |
| complement(7274) | - | , a | dbSNP:56114644 |
| complement(7288) | - | g, a | dbSNP:74948536 |
| complement(7318) | - | t, a | dbSNP:56360445 |
| complement(7343) | - | g, c | dbSNP:5995275 |
| 7382 | + | a, c | dbSNP:3205191 |
| 7414 | + | c, t | dbSNP:8226 |
| 7428 | + | c, t | dbSNP:2481 |
| complement(7501) | - | t, a | dbSNP:111959795 |
| Gene Symbol | MYH9 |
| Gene Synonym | DFNA17; EPSTS; FTNS; MGC104539; MHA; NMHC-II-A; NMMHCA |
| Chromosome | 22 |
| Locus Map | 22q13.1 |
| All Transcripts | NM_002473 |
| Title | Mechanism of the Ca(2)+-dependent interaction between S100A4 and tail fragments of nonmuscle myosin heavy chain IIA . |
| Author | Badyal,S.K., Basran,J., Bhanji,N., Kim,J.H., Chavda,A.P., Jung,H.S., Craig,R., Elliott,P.R., Irvine,A.F., Barsukov,I.L., Kriajevska,M. and Bagshaw,C.R. |
| Journal | J. Mol. Biol. 405 (4), 1004-1026 (2011) |
| Title | Nonmuscle myosin IIA is required for lamellipodia formation through binding to WAVE2 and phosphatidylinositol 3,4,5-triphosphate . |
| Author | Morimura,S., Suzuki,K. and Takahashi,K. |
| Journal | Biochem. Biophys. Res. Commun. 404 (3), 834-840 (2011) |
| Title | Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations . |
| Author | Pecci,A., Gresele,P., Klersy,C., Savoia,A., Noris,P., Fierro,T., Bozzi,V., Mezzasoma,A.M., Melazzini,F. and Balduini,C.L. |
| Journal | Blood 116 (26), 5832-5837 (2010) |
| Title | Non-muscle myosin IIA is a functional entry receptor for herpes simplex virus-1 . |
| Author | Arii,J., Goto,H., Suenaga,T., Oyama,M., Kozuka-Hata,H., Imai,T., Minowa,A., Akashi,H., Arase,H., Kawaoka,Y. and Kawaguchi,Y. |
| Journal | Nature 467 (7317), 859-862 (2010) |
| Title | The value of a native milieu: mutated non-muscle myosin IIA does lead to thrombocytopenia . |
| Author | Ravid,K. |
| Journal | J. Thromb. Haemost. 8 (10), 2241-2242 (2010) |
| Title | Large tidal volume ventilation improves pulmonary gas exchange during lower abdominal surgery in Trendelenburg's position . |
| Author | Tweed,W.A., Phua,W.T., Chong,K.Y., Lim,E. and Lee,T.L. |
| Journal | Can J Anaesth 38 (8), 989-995 (1991) |
| Title | Cellular myosin heavy chain in human leukocytes: isolation of 5' cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation . |
| Author | Toothaker,L.E., Gonzalez,D.A., Tung,N., Lemons,R.S., Le Beau,M.M., Arnaout,M.A., Clayton,L.K. and Tenen,D.G. |
| Journal | Blood 78 (7), 1826-1833 (1991) |
| Title | Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes . |
| Author | Simons,M., Wang,M., McBride,O.W., Kawamoto,S., Yamakawa,K., Gdula,D., Adelstein,R.S. and Weir,L. |
| Journal | Circ. Res. 69 (2), 530-539 (1991) |
| Title | The interaction of C-protein with heavy meromyosin and subfragment-2 . |
| Author | Starr,R. and Offer,G. |
| Journal | Biochem. J. 171 (3), 813-816 (1978) |
| Title | Enzymic and immunochemical properties of lysozyme. Accurate definition of the antigenic site around the disulphide bridge 30-115 (site 3) by 'surface-simulation' synthesis . |
| Author | Lee,C.L. and Atassi,M.Z. |
| Journal | Biochem. J. 167 (3), 571-581 (1977) |
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