MYH9

Myosin, heavy chain 9, non-muscle
Identifiers
Symbols	MYH9; DFNA17; EPSTS; FTNS; MGC104539; MHA; NMHC-II-A; NMMHCA
External IDs	OMIM: 160775 MGI: 107717 HomoloGene: 68257 GeneCards: MYH9 Gene
Gene Ontology Molecular function • microfilament motor activity • nucleotide binding • motor activity • actin binding • protein binding • calmodulin binding • ATP binding • ATPase activity • actin-dependent ATPase activity • protein homodimerization activity • protein anchor • ADP binding • actin filament binding • actin filament binding Cellular component • stress fiber • ruffle • immunological synapse • uropod • nucleus • cytoplasm • spindle • actomyosin contractile ring • cytosol • plasma membrane • plasma membrane • cell-cell adherens junction • cell cortex • signalosome • integrin complex • actin cytoskeleton • myosin complex • cortical cytoskeleton • cell leading edge • neuromuscular junction • cleavage furrow • protein complex Biological process • meiotic spindle organization • cell morphogenesis involved in differentiation • cytokinesis • angiogenesis • in utero embryonic development • establishment of T cell polarity • ATP catabolic process • membrane protein ectodomain proteolysis • cellular component movement • meiotic metaphase I • integrin-mediated signaling pathway • axon guidance • myoblast fusion • regulation of cell shape • protein transport • cell-cell adhesion • actin filament-based movement • platelet formation • monocyte differentiation • actin cytoskeleton reorganization • uropod organization • blood vessel endothelial cell migration • leukocyte migration • establishment of meiotic spindle localization Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4627	17886
Ensembl	ENSG00000100345	ENSMUSG00000022443
UniProt	P35579	O89055
RefSeq (mRNA)	NM_002473	NM_022410.2
RefSeq (protein)	NP_002464	NP_071855.2
Location (UCSC)	Chr 22: 36.68 – 36.78 Mb	Chr 15: 77.59 – 77.67 Mb
PubMed search	[1]	[2]

Myosin, heavy chain 9, non-muscle is a protein which in humans is encoded by the MYH9 gene.^[1][2]

Clinical significance

MYH9 polymorphisms have been shown to associate with glomerulosclerosis^[3] and non-diabetic end stage renal disease^[4] in African Americans and in Hispanic Americans,^[5] though it was later shown that two independent variants in the nearby APOL1 gene were responsible for the increased risk of disease.^[6][7]

Interactions

MYH9 has been shown to interact with PRKCE.^[8]

See also

• May Hegglin anomaly

References

1. ^ Simons M, Wang M, McBride OW, Kawamoto S, Yamakawa K, Gdula D, Adelstein RS, Weir L (August 1991). "Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes". Circulation research 69 (2): 530–9. PMID 1860190. 
2. ^ Lalwani AK, Goldstein JA, Kelley MJ, Luxford W, Castelein CM, Mhatre AN (November 2000). "Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9". American journal of human genetics 67 (5): 1121–8. doi:10.1016/S0002-9297(07)62942-5. PMC 1288554. PMID 11023810. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1288554. 
3. ^ Kopp JB, Smith MW, Nelson GW, Johnson RC, Freedman BI, Bowden DW, Oleksyk T, McKenzie LM, Kajiyama H, Ahuja TS, Berns JS, Briggs W, Cho ME, Dart RA, Kimmel PL, Korbet SM, Michel DM, Mokrzycki MH, Schelling JR, Simon E, Trachtman H, Vlahov D, Winkler CA (October 2008). "MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis". Nature genetics 40 (10): 1175–84. doi:10.1038/ng.226. PMC 2827354. PMID 18794856. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2827354. 
4. ^ Kao WH, Klag MJ, Meoni LA, Reich D, Berthier-Schaad Y, Li M, Coresh J, Patterson N, Tandon A, Powe NR, Fink NE, Sadler JH, Weir MR, Abboud HE, Adler SG, Divers J, Iyengar SK, Freedman BI, Kimmel PL, Knowler WC, Kohn OF, Kramp K, Leehey DJ, Nicholas SB, Pahl MV, Schelling JR, Sedor JR, Thornley-Brown D, Winkler CA, Smith MW, Parekh RS; Family Investigation of Nephropathy and Diabetes Research Group (October 2008). "MYH9 is associated with nondiabetic end-stage renal disease in African Americans". Nature genetics 40 (10): 1185–92. doi:10.1038/ng.232. PMC 2614692. PMID 18794854. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2614692. 
5. ^ Behar DM, Rosset S, Tzur S, Selig S, Yudkovsky G, Bercovici S, Kopp JB, Winkler CA, Nelson GW, Wasser WG, Skorecki K. (2010). "African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans.". Hum Mol Genet. 19 (9): 1816–27. doi:10.1093/hmg/ddq040. PMC 2850615. PMID 20144966. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2850615. 
6. ^ Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR. (July 2010). "Association of Trypanolytic ApoL1 Variants with Kidney Disease in African-Americans". Science 329 (5993): 841–5. doi:10.1126/science.1193032. PMC 2980843. PMID 20647424. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2980843. 
7. ^ Tzur S, Rosset S, Shemer R, Yudkovsky G, Selig S, Tarekegn A, Bekele E, Bradman N, Wasser WG, Behar DM, Skorecki K. (July 2010). "Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene.". Human Genetics 128 (3): 345–50. doi:10.1007/s00439-010-0861-0. PMC 2921485. PMID 20635188. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2921485. 
8. ^ England, Karen; Ashford David, Kidd Daniel, Rumsby Martin (June 2002). "PKC epsilon is associated with myosin IIA and actin in fibroblasts". Cell. Signal. (England) 14 (6): 529–36. doi:10.1016/S0898-6568(01)00277-7. ISSN 0898-6568. PMID 11897493. 

External links

• GeneReview/NIH/UW entry on MYH9-Related Disorders

Further reading

• Starr R, Offer G (1978). "The interaction of C-protein with heavy meromyosin and subfragment-2.". Biochem. J. 171 (3): 813–6. PMC 1184031. PMID 352343. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1184031. 
• Lee CL, Atassi MZ (1978). "Enzymic and immunochemical properties of lysozyme. Accurate definition of the antigenic site around the disulphide bridge 30-115 (site 3) by 'surface-simulation' synthesis.". Biochem. J. 167 (3): 571–81. PMC 1183703. PMID 603622. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1183703. 
• Tweed WA, Phua WT, Chong KY, et al. (1992). "Large tidal volume ventilation improves pulmonary gas exchange during lower abdominal surgery in Trendelenburg's position.". Canadian Journal of Anesthesia 38 (8): 989–95. doi:10.1007/BF03008617. PMID 1752022. 
• Simons M, Wang M, McBride OW, et al. (1991). "Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes.". Circ. Res. 69 (2): 530–9. PMID 1860190. 
• Toothaker LE, Gonzalez DA, Tung N, et al. (1991). "Cellular myosin heavy chain in human leukocytes: isolation of 5' cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation.". Blood 78 (7): 1826–33. PMID 1912569. 
• Saez CG, Myers JC, Shows TB, Leinwand LA (1990). "Human nonmuscle myosin heavy chain mRNA: generation of diversity through alternative polyadenylylation.". Proc. Natl. Acad. Sci. U.S.A. 87 (3): 1164–8. doi:10.1073/pnas.87.3.1164. PMC 53431. PMID 1967836. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=53431. 
• Moos C, Feng IN (1980). "Effect of C-protein on actomyosin ATPase.". Biochim. Biophys. Acta 632 (2): 141–9. doi:10.1016/0304-4165(80)90071-9. PMID 6448079. 
• Obermann WM, Plessmann U, Weber K, Fürst DO (1995). "Purification and biochemical characterization of myomesin, a myosin-binding and titin-binding protein, from bovine skeletal muscle.". Eur. J. Biochem. 233 (1): 110–5. doi:10.1111/j.1432-1033.1995.110_1.x. PMID 7588733. 
• Maupin P, Phillips CL, Adelstein RS, Pollard TD (1995). "Differential localization of myosin-II isozymes in human cultured cells and blood cells.". J. Cell. Sci. 107 ( Pt 11): 3077–90. PMID 7699007. 
• Bement WM, Hasson T, Wirth JA, et al. (1994). "Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types.". Proc. Natl. Acad. Sci. U.S.A. 91 (14): 6549–53. doi:10.1073/pnas.91.14.6549. PMC 44240. PMID 8022818. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=44240. 
• Eilertsen KJ, Kazmierski ST, Keller TC (1994). "Cellular titin localization in stress fibers and interaction with myosin II filaments in vitro.". J. Cell Biol. 126 (5): 1201–10. doi:10.1083/jcb.126.5.1201. PMC 2120159. PMID 8063857. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2120159. 
• Shoeman RL, Sachse C, Höner B, et al. (1993). "Cleavage of human and mouse cytoskeletal and sarcomeric proteins by human immunodeficiency virus type 1 protease. Actin, desmin, myosin, and tropomyosin.". Am. J. Pathol. 142 (1): 221–30. PMC 1886840. PMID 8424456. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1886840. 
• Lalwani AK, Linthicum FH, Wilcox ER, et al. (1998). "A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration.". Audiol. Neurootol. 2 (3): 139–54. PMID 9390828. 
• Ford HL, Silver DL, Kachar B, et al. (1998). "Effect of Mts1 on the structure and activity of nonmuscle myosin II.". Biochemistry 36 (51): 16321–7. doi:10.1021/bi971182l. PMID 9405067. 
• Obermann WM, van der Ven PF, Steiner F, et al. (1998). "Mapping of a myosin-binding domain and a regulatory phosphorylation site in M-protein, a structural protein of the sarcomeric M band.". Mol. Biol. Cell 9 (4): 829–40. PMC 25310. PMID 9529381. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=25310. 
• Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208. 
• Miyamoto CA, Fischman DA, Reinach FC (2000). "The interface between MyBP-C and myosin: site-directed mutagenesis of the CX myosin-binding domain of MyBP-C.". J. Muscle Res. Cell. Motil. 20 (7): 703–15. doi:10.1023/A:1005513312939. PMID 10672519. 
• Sajid M, Hu Z, Lele M, Stouffer GA (2000). "Protein complexes involving alpha v beta 3 integrins, nonmuscle myosin heavy chain-A, and focal adhesion kinase from in thrombospondin-treated smooth muscle cells.". J. Investig. Med. 48 (3): 190–7. PMID 10822899. 
• Husi H, Ward MA, Choudhary JS, et al. (2000). "Proteomic analysis of NMDA receptor-adhesion protein signaling complexes.". Nat. Neurosci. 3 (7): 661–9. doi:10.1038/76615. PMID 10862698. 
• Kelley MJ, Jawien W, Lin A, et al. (2000). "Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13.". Hum. Genet. 106 (5): 557–64. doi:10.1007/s004390050025. PMID 10914687. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.