MYH9 - myosin heavy chain 9 Gene
Also Known as MHA; FTNS; EPSTS; BDPLT6; DFNA17; MATINS; NMMHCA; NMHC-II-A; NMMHC-IIA
Species: Homo sapiens
About MYH9
This gene has 23 transcripts (splice variants), 279 orthologues, 43 paralogues and is associated with 100 phenotypes. Ubiquitous expression in spleen (RPKM 146.6), lung (RPKM 134.4) and 25 other tissues.
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. [provided by RefSeq, Dec 2011]
MYH9 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_002473.6 | NP_002464.1 | myosin-9 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables ADP binding |
IDA
IDA: Inferred from direct assay
|
15065866 | GOA |
| enables ATP binding |
IDA
IDA: Inferred from direct assay
|
15065866 | GOA |
| enables actin binding |
IDA
IDA: Inferred from direct assay
|
15065866 | GOA |
| contributes to actin filament binding |
IDA
IDA: Inferred from direct assay
|
24072716 | GOA |
| enables actin filament binding |
IDA
IDA: Inferred from direct assay
|
12237319 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
22483112 | GOA |
| enables integrin binding |
IDA
IDA: Inferred from direct assay
|
10822899 | GOA |
| contributes to microfilament motor activity |
IDA
IDA: Inferred from direct assay
|
24072716 | GOA |
| enables microfilament motor activity |
IDA
IDA: Inferred from direct assay
|
12237319 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
2732579 | GOA |
| enables protein domain specific binding |
IPI
IPI: Inferred from physical interaction
|
23325791 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
12237319 | GOA |
| enables protein-membrane adaptor activity |
IMP
IMP: Inferred from mutant phenotype
|
16403913 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| part of COP9 signalosome |
IDA
IDA: Inferred from direct assay
|
18850735 | GOA |
| located in actin cytoskeleton |
IDA
IDA: Inferred from direct assay
|
15869600 | GOA |
| located in actomyosin |
IDA
IDA: Inferred from direct assay
|
24072716 | GOA |
| located in actomyosin contractile ring |
IDA
IDA: Inferred from direct assay
|
11029059 | GOA |
| located in cell leading edge |
IDA
IDA: Inferred from direct assay
|
12421915 | GOA |
| located in cleavage furrow |
IDA
IDA: Inferred from direct assay
|
7699007 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
7699007 | GOA |
| located in cytoplasmic side of plasma membrane |
IDA
IDA: Inferred from direct assay
|
15064761 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
14508515 | GOA |
| located in immunological synapse |
IDA
IDA: Inferred from direct assay
|
15064761 | GOA |
| part of myosin II complex |
IDA
IDA: Inferred from direct assay
|
24072716 | GOA |
| located in myosin II filament |
IDA
IDA: Inferred from direct assay
|
24072716 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
14508515 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
16186248 | GOA |
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
12421915 | GOA |
| located in ruffle |
IDA
IDA: Inferred from direct assay
|
16403913 | GOA |
| located in stress fiber |
IDA
IDA: Inferred from direct assay
|
7699007 | GOA |
| located in uropod |
IDA
IDA: Inferred from direct assay
|
15064761 | GOA |
MYH9 Protein Structure
Myosin_N: Myosin N-terminal SH3-like domain (29 - 71)
Myosin_head: Myosin head (motor domain) (83 - 764)
IQ: IQ calmodulin-binding motif (783 - 799)
Myosin_tail_1: Myosin tail (1067 - 1923)
- 0
- 400
- 800
- 1200
- 1600
- 1960 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
myosin-9 |
|
MYH9 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Cross
|
MYH9 | P35579 | S | SARS-CoV-2 | P0DTC2 | 34873039 | |
|
Intra
|
MYH9 | P35579 | NCL | Homo sapiens | P19338 | 16403913 | |
|
Intra
|
MYH9 | P35579 | S100A4 | Homo sapiens | P26447 | 22483112 | |
|
Intra
|
MYH9 | P35579 | S100A4 | Homo sapiens | P26447 | 31837246 | |
|
Intra
|
MYH9 | P35579 | S100A6 | Homo sapiens | P06703 | 31837246 | |
|
Intra
|
MYH9 | P35579 | GRB2 | Homo sapiens | P62993 | 20936779 | |
|
Intra
|
MYH9 | P35579 | S100B | Homo sapiens | P04271 | 31837246 | |
|
Intra
|
MYH9 | P35579 | S100A5 | Homo sapiens | P33763 | 31837246 | |
|
Intra
|
MYH9 | P35579 | S100A1 | Homo sapiens | P23297 | 31837246 | |
|
Intra
|
MYH9 | P35579 | S100P | Homo sapiens | P25815 | 15171681 | |
|
Intra
|
MYH9 | P35579 | S100P | Homo sapiens | P25815 | 31837246 | |
|
Intra
|
MYH9 | P35579 | S100A2 | Homo sapiens | P29034 | 31837246 | |
|
Intra
|
MYH9 | P35579 | MEN1 | Homo sapiens | O00255-2 | 14508515 | |
|
Intra
|
MYH9 | P35579 | MEN1 | Homo sapiens | O00255-2 | 14508515 |
MYH9 Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P83368 | MYH9 Antibody (YA3113) | WB, IHC-P, IP | Human, Rat |
| HY-P83368A | MYH9 Antibody (YA3113)(PBS only) | WB, IHC-P, IP | Human, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
|
| Deafness, Autosomal Dominant 17 |
|
|
| Myh-9 Related Disease |
|
|
| Pseudosarcomatous Fibromatosis |
|
|
| Thrombocytopenia |
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
|
| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
|
|
| Deafness, Autosomal Recessive |
|
|
| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
|
|
| Rare Genetic Deafness |
|
|
| End Stage Renal Disease |
|
|
| Alport Syndrome |
|
|
| Deafness, Autosomal Recessive 63 |
|
|
| Hemangioma, Capillary Infantile |
|
|
| Bernard-Soulier Syndrome |
|
|
| Sensorineural Hearing Loss |
|
|
| Blood Platelet Disease |
|
|
| Fasciitis |
|
|
| Hypertension, Essential |
|
|
| Ankrd26-Related Thrombocytopenia |
|
|
| Focal Segmental Glomerulosclerosis |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Kidney Disease |
|
|
| Glomerulonephritis |
|
|
| Bladder Exstrophy |
|
|
| Nephrotic Syndrome |
|
|
| Acquired Thrombocytopenia |
|
|
| Intravascular Fasciitis |
|
|
| Ischemic Fasciitis |
|
|
| Autosomal Dominant Alport Syndrome |
|
|
| Proliferative Fasciitis |
|
|
| X-Linked Alport Syndrome |
|
|
| Autosomal Recessive Alport Syndrome |
|
|
| Chronic Kidney Disease |
|
|
| Cataract |
|
|
| Hematuria, Benign Familial |
|
|
| Renal Hypertension |
|
|
| Lens Disease |
|
|
| Febrile Seizures, Familial, 1 |
|
|
| Amegakaryocytic Thrombocytopenia, Congenital |
|
|
| Glanzmann Thrombasthenia 1 |
|
|
| Sleeping Sickness |
|
|
| Cleft Palate, Isolated |
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
|
| Hermansky-Pudlak Syndrome |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Hypertrophic Cardiomyopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | MYH9 | MGD | MGI:107717 |
| Bos taurus | MYH9 | VGNC | VGNC:31798 |
| Felis catus | MYH9 | VGNC | VGNC:68382 |
| Canis familiaris | MYH9 | VGNC | VGNC:43540 |
| Macaca mulatta | MYH9 | VGNC | VGNC:75102 |
| Rattus norvegicus | MYH9 | RGD | RGD:3140 |
| Others | MYH9 | NCBI |