MYH9

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
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Myosin, heavy chain 9, non-muscle is a protein which in humans is encoded by the MYH9 gene.

Clinical significance

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

Model organisms

Myh9 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Eye Histopathology	Normal
Salmonella infection	Normal
Citrobacter infection	Normal
All tests and analysis from

Model organisms have been used in the study of MYH9 function. A conditional knockout mouse line, called Myh9^{tm1a(EUCOMM)Wtsi} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty six tests were carried out on mutant mice and two significant abnormalities were observed. No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals.

Interactions

MYH9 has been shown to interact with PRKCE.

See also

• May Hegglin anomaly

Further reading

• Starr R, Offer G (June 1978). "The interaction of C-protein with heavy meromyosin and subfragment-2". The Biochemical Journal. 171 (3): 813–6. PMC 1184031. PMID 352343.
• Lee CL, Atassi MZ (December 1977). "Enzymic and immunochemical properties of lysozyme. Accurate definition of the antigenic site around the disulphide bridge 30-115 (site 3) by 'surface-simulation' synthesis". The Biochemical Journal. 167 (3): 571–81. PMC 1183703. PMID 603622.
• Tweed WA, Phua WT, Chong KY, Lim E, Lee TL (November 1991). "Large tidal volume ventilation improves pulmonary gas exchange during lower abdominal surgery in Trendelenburg's position". Canadian Journal of Anaesthesia = Journal Canadien d'Anesthesie. 38 (8): 989–95. doi:10.1007/BF03008617. PMID 1752022.
• 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. doi:10.1161/01.res.69.2.530. PMID 1860190.
• Toothaker LE, Gonzalez DA, Tung N, Lemons RS, Le Beau MM, Arnaout MA, Clayton LK, Tenen DG (October 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 (February 1990). "Human nonmuscle myosin heavy chain mRNA: generation of diversity through alternative polyadenylylation". Proceedings of the National Academy of Sciences of the United States of America. 87 (3): 1164–8. doi:10.1073/pnas.87.3.1164. PMC 53431. PMID 1967836.
• Moos C, Feng IN (October 1980). "Effect of C-protein on actomyosin ATPase". Biochimica et Biophysica Acta. 632 (2): 141–9. doi:10.1016/0304-4165(80)90071-9. PMID 6448079.
• Obermann WM, Plessmann U, Weber K, Fürst DO (October 1995). "Purification and biochemical characterization of myomesin, a myosin-binding and titin-binding protein, from bovine skeletal muscle". European Journal of Biochemistry. 233 (1): 110–5. doi:10.1111/j.1432-1033.1995.110_1.x. PMID 7588733.
• Maupin P, Phillips CL, Adelstein RS, Pollard TD (November 1994). "Differential localization of myosin-II isozymes in human cultured cells and blood cells". Journal of Cell Science. 107 ( Pt 11) (11): 3077–90. PMID 7699007.
• Bement WM, Hasson T, Wirth JA, Cheney RE, Mooseker MS (July 1994). "Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types". Proceedings of the National Academy of Sciences of the United States of America. 91 (14): 6549–53. doi:10.1073/pnas.91.14.6549. PMC 44240. PMID 8022818.
• Eilertsen KJ, Kazmierski ST, Keller TC (September 1994). "Cellular titin localization in stress fibers and interaction with myosin II filaments in vitro". The Journal of Cell Biology. 126 (5): 1201–10. doi:10.1083/jcb.126.5.1201. PMC 2120159. PMID 8063857.
• Shoeman RL, Sachse C, Höner B, Mothes E, Kaufmann M, Traub P (January 1993). "Cleavage of human and mouse cytoskeletal and sarcomeric proteins by human immunodeficiency virus type 1 protease. Actin, desmin, myosin, and tropomyosin". The American Journal of Pathology. 142 (1): 221–30. PMC 1886840. PMID 8424456.
• Lalwani AK, Linthicum FH, Wilcox ER, Moore JK, Walters FC, San Agustin TB, Mislinski J, Miller MR, Sinninger Y, Attaie A, Luxford WM (1998). "A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration". Audiology & Neuro-Otology. 2 (3): 139–54. doi:10.1159/000259237. PMID 9390828.
• Ford HL, Silver DL, Kachar B, Sellers JR, Zain SB (December 1997). "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, Weber K, Fürst DO (April 1998). "Mapping of a myosin-binding domain and a regulatory phosphorylation site in M-protein, a structural protein of the sarcomeric M band". Molecular Biology of the Cell. 9 (4): 829–40. doi:10.1091/mbc.9.4.829. PMC 25310. PMID 9529381.
• Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP (December 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 (October 1999). "The interface between MyBP-C and myosin: site-directed mutagenesis of the CX myosin-binding domain of MyBP-C". Journal of Muscle Research and Cell Motility. 20 (7): 703–15. doi:10.1023/A:1005513312939. PMID 10672519.
• Sajid M, Hu Z, Lele M, Stouffer GA (May 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". Journal of Investigative Medicine. 48 (3): 190–7. PMID 10822899.
• Husi H, Ward MA, Choudhary JS, Blackstock WP, Grant SG (July 2000). "Proteomic analysis of NMDA receptor-adhesion protein signaling complexes". Nature Neuroscience. 3 (7): 661–9. doi:10.1038/76615. PMID 10862698.
• Kelley MJ, Jawien W, Lin A, Hoffmeister K, Pugh EW, Doheny KF, Korczak JF (May 2000). "Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13". Human Genetics. 106 (5): 557–64. doi:10.1007/s004390050025. PMID 10914687.

External links

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

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