MYH9

This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with 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, Dec 2011]

Myosin Heavy Chain 9

Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Required for cortical actin clearance prior to oocyte exocytosis (By similarity).

Promotes cell motility in conjunction with S100A4 (PubMed:16707441).

During cell spreading, plays an important role in cytoskeleton reorganization, focal contact formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10 (PubMed:20052411).

Actin cytoskeleton reorganization Source: UniProtKB
Actin filament-based movement Source: UniProtKB
Actomyosin structure organization Source: UniProtKB
Angiogenesis Source: UniProtKB
Blood vessel endothelial cell migration Source: UniProtKB
Cortical granule exocytosis Source: UniProtKB
Cytokinetic process Source: UniProtKB
Establishment of meiotic spindle localization Source: Ensembl
Establishment of T cell polarity Source: Ensembl
Integrin-mediated signaling pathway Source: UniProtKB
In utero embryonic development Source: Ensembl
Leukocyte migration Source: UniProtKB
Lysosome localization Source: UniProtKB
Meiotic spindle organization Source: Ensembl
Membrane protein ectodomain proteolysis Source: UniProtKB
Monocyte differentiation Source: UniProtKB
Myoblast fusion Source: Ensembl
Negative regulation of actin filament severing Source: UniProtKB
Phagocytosis, engulfment Source: UniProtKB
Plasma membrane repair Source: UniProtKB
Platelet aggregation Source: UniProtKB
Platelet formation Source: UniProtKB
Positive regulation of protein processing in phagocytic vesicle Source: UniProtKB
Protein transport Source: UniProtKB
Regulated exocytosis Source: UniProtKB
Regulation of cell shape Source: UniProtKB
Regulation of plasma membrane repair Source: UniProtKB
Uropod organization Source: Ensembl

Cytoskeleton
Other locations
cell cortex
Cortical granule
Note: Colocalizes with actin filaments at lamellipodia margins and at the leading edge of migrating cells (PubMed:20052411). In retinal pigment epithelial cells, predominantly localized to stress fiber-like structures with some localization to cytoplasmic puncta (PubMed:27331610).

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS):
An autosomal dominant disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes with variable ultrastructural appearance. Some affected individuals lack leukocyte inclusion bodies on classic staining of peripheral blood smears. Alport syndrome-like features of nephritis, hearing loss, and eye abnormalities are present in some patients.
Deafness, autosomal dominant, 17 (DFNA17):
A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration.
Subjects with mutations in the motor domain of MYH9 present with severe thrombocytopenia and develop nephritis and deafness before the age of 40 years, while those with mutations in the tail domain have a much lower risk of noncongenital complications and significantly higher platelet counts. The clinical course of patients with mutations in the four most frequently affected residues of MYH9 (responsible for 70% of MYH9-related cases) were evaluated. Mutations at residue 1933 do not induce kidney damage or cataracts and cause deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age, while alterations at residue 1424 or 1841 result in intermediate clinical pictures.
Genetic variations in MYH9 are associated with non-diabetic end stage renal disease (ESRD).

ISGylated.
Ubiquitination.