MYH9 (myosin, heavy polypeptide 9, non-muscle)
2003-08-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
22q12.3
LOCUSID
ALIAS
BDPLT6,DFNA17,EPSTS,FTNS,MATINS,MHA,NMHC-II-A,NMMHC-IIA,NMMHCA
FUSION GENES
DNA/RNA
Description
spans 107 kb; 40 exons
Transcription
alternate splicing; transcripts of 4.4, 5.3 and 5.9 kb
Proteins
Description
1960 amino acids; 227 kDa (and 1752 aa, 202 kDa, and 1486 aa, 172 kDa; globular head in N-term and a coiled-coil tail in C-term; actin binding site and light chains binding site are present in the globular domain. Myosin forms hexamers with 2 heavy chains, 2 essential (alkali) light chains, and 2 regulatory light chains
Expression
in platelets; upregulated during granulocyte differentiation (see below); also expressed in thymus, spleen, kidney, intestine, cochlea ....
Function
binds actin; protein of the cytoskeleton; role in cell shape and motility, and in cell division
Mutations
Germinal
in autosomal dominant giant-platelet disorders
Somatic
in non Hodgkin lymphomas
Implicated in
Disease
The autosomal dominant giant-platelet disorders, May-Hegglin anomaly (MHA), Fechtner syndrome (FTNS), and Sebastian syndrome (SBS), which share a triad of thrombocytopenia, large platelets (macrothrombocytopenia (MTCP)) and characteristic leukocyte inclusions (Dohle-like bodies), Epstein syndrome, which associates additional Alport-like clinical features (inherited sensorineural deafness, cataracts, nephritis), and MTCP without leukocyte inclusions, as well as a nonsyndromic hereditary hearing impairment are all caused by (germinal) mutations in MYH9. These disorders appear to represent a class of allelic disorders with variable phenotypic diversity. No clear no genotype-phenotype correlation was identified
Entity name
Disease
ALCL are high grade non Hodgkin lymphomas; ALK+ ALCL are ALCL where ALK is involved in a fusion gene; ALK+ ALCL represent 50 to 60 % of ALCL cases (they are CD30+, ALK+;); belong to the "cytoplasmic ALK+" subset.
Prognosis
Althouth presenting as a high grade tumour, a 80% five yr survival is associated with this anomaly
Hybrid gene
5 MYH9 - 3 ALK
Fusion protein
NH2 MYH9 - COOH ALK
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10973260 | 2000 | Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. | Kelley MJ et al |
| 11776386 | 2001 | Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. | Kunishima S et al |
| 11023810 | 2000 | Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. | Lalwani AK et al |
| 12800156 | 2003 | Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma. | Lamant L et al |
| 12217798 | 2002 | Five (un)easy pieces: the MYH9-related giant platelet syndromes. | Martignetti J et al |
| 10973259 | 2000 | Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. | Seri M et al |
| 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. | Seri M et al |
Other Information
Locus ID:
NCBI: 4627
MIM: 160775
HGNC: 7579
Ensembl: ENSG00000100345
Variants:
dbSNP: 4627
ClinVar: 4627
TCGA: ENSG00000100345
COSMIC: MYH9
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000100345 | ENST00000216181 | P35579 |
| ENSG00000100345 | ENST00000216181 | A0A024R1N1 |
| ENSG00000100345 | ENST00000401701 | Q5BKV1 |
| ENSG00000100345 | ENST00000456729 | B1AH99 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37594641 | 2024 | The Potential Impact of MYH9 (rs3752462) and ELMO1 (rs741301) Genetic Variants on the Risk of Nephrotic Syndrome Incidence. | 0 |
| 38042490 | 2024 | Effects of specific disease mutations in non-muscle myosin 2A on its structure and function. | 0 |
| 38103735 | 2024 | Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia. | 0 |
| 38181716 | 2024 | MYH9: A key protein involved in tumor progression and virus-related diseases. | 0 |
| 38504374 | 2024 | TMEM120B strengthens breast cancer cell stemness and accelerates chemotherapy resistance via β1-integrin/FAK-TAZ-mTOR signaling axis by binding to MYH9. | 0 |
| 38517106 | 2024 | Spindle cell neoplasms with novel LTK fusion - Expanding the spectrum of kinase fusion-positive soft tissue tumors. | 0 |
| 37594641 | 2024 | The Potential Impact of MYH9 (rs3752462) and ELMO1 (rs741301) Genetic Variants on the Risk of Nephrotic Syndrome Incidence. | 0 |
| 38042490 | 2024 | Effects of specific disease mutations in non-muscle myosin 2A on its structure and function. | 0 |
| 38103735 | 2024 | Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia. | 0 |
| 38181716 | 2024 | MYH9: A key protein involved in tumor progression and virus-related diseases. | 0 |
| 38504374 | 2024 | TMEM120B strengthens breast cancer cell stemness and accelerates chemotherapy resistance via β1-integrin/FAK-TAZ-mTOR signaling axis by binding to MYH9. | 0 |
| 38517106 | 2024 | Spindle cell neoplasms with novel LTK fusion - Expanding the spectrum of kinase fusion-positive soft tissue tumors. | 0 |
| 36509386 | 2023 | Nonmuscle myosin IIA promotes the internalization of influenza A virus and regulates viral polymerase activity through interacting with nucleoprotein in human pulmonary cells. | 1 |
| 36757050 | 2023 | SAMD9 Promotes Postoperative Recurrence of Esophageal Squamous Cell Carcinoma by Stimulating MYH9-Mediated GSK3β/β-Catenin Signaling. | 8 |
| 36929633 | 2023 | MYH10 Combines with MYH9 to Recruit USP45 by Deubiquitinating Snail and Promotes Serous Ovarian Cancer Carcinogenesis, Progression, and Cisplatin Resistance. | 5 |
Citation
Jean-Loup Huret
MYH9 (myosin, heavy polypeptide 9, non-muscle)
Atlas Genet Cytogenet Oncol Haematol. 2003-08-01
Online version: http://atlasgeneticsoncology.org/gene/481/myh9-(myosin-heavy-polypeptide-9-non-muscle)
