Gene: MYH9

Alternate names for this Gene: BDPLT6|DFNA17|EPSTS|FTNS|MATINS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCA

Gene Summary: 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.3

Description of this Gene: myosin heavy chain 9

Type of Gene: protein-coding

rs2071732 in MYH9 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs2294358 in MYH9 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121913657 in MYH9 gene and DEAFNESS, AUTOSOMAL DOMINANT 17 PMID 16969870 2006 Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

PMID 24186861 2014 MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

PMID 23409987 2013 Familial cases with MYH9 disorders caused by MYH9 S96L mutation.

PMID 26226608 2016 Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.

PMID 11752022 2002 Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

PMID 11023810 2000 Both the precise role of MYH9 in the cochlea and the mechanism by which the R705H mutation leads to the DFNA17 phenotype (progressive hearing impairment and cochleosaccular degeneration) remain to be elucidated.

rs5750250 in MYH9 gene and Diabetic Nephropathy PMID 26305897 2015 Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND).

PMID 21150874 2011 A genome-wide association study for diabetic nephropathy genes in African Americans.

rs136211 in MYH9 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs776420285 in MYH9 gene and Hip circumference PMID 30108283 2018 A study of Kibbutzim in Israel reveals risk factors for cardiometabolic traits and subtle population structure.

rs121913655 in MYH9 gene and May-Hegglin anomaly PMID 10973260 2000 Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

PMID 12533692 2003 Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.

PMID 12792306 2003 MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.

PMID 11752022 2002 Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

PMID 12621333 2003 Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.

PMID 11590545 2001 Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

PMID 11776386 2001 Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.

PMID 12649151 2003 Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.

PMID 11935325 2002 Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

PMID 16969870 2006 Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

PMID 10973259 2000 Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

PMID 11590545 2001 R702C and R702H mutations were only associated with FTNS, EPS, or APSM, thus defining a region of MYHIIA critical in the combined pathogenesis of macrothrombocytopenia, nephritis, and deafness.

PMID 11590545 2001 R702C and R702H mutations were only associated with FTNS, EPS, or APSM, thus defining a region of MYHIIA critical in the combined pathogenesis of macrothrombocytopenia, nephritis, and deafness.

PMID 12649151 2003 Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.

PMID 11752022 2002 Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly.

PMID 11590545 2001 The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS.

PMID 11590545 2001 The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS.

PMID 11752022 2002 Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly.

rs136211 in MYH9 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs80338827 in MYH9 gene and SEBASTIAN SYNDROME PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.