MYH9
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:160775 Ensembl IDEnsembl:ENSG00000100345 HGNC IDHGNC:HGNC:7579 PHARMGKB IDPA31377 Map Location22q12.3 | |||||
Gene Categories:
CELL SURFACEGO terms in MYH9
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0000212 | meiotic spindle organization |
| BP | IDA | GO:0001525 | angiogenesis |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0001768 | establishment of T cell polarity |
| BP | IDA | GO:0006509 | membrane protein ectodomain proteolysis |
| BP | ISS | GO:0006911 | phagocytosis, engulfment |
Gene expression in normal tissue: MYH9
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MYH9
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04530 | Tight junction - Homo sapiens (human) |
| kegg | hsa04810 | Regulation of actin cytoskeleton - Homo sapiens (human) |
| kegg | hsa05132 | Salmonella infection - Homo sapiens (human) |
| netpath | Pathway_EGFR1 | EGFR1 |
| wikipathways | WP2572 | Primary Focal Segmental Glomerulosclerosis FSGS |
| wikipathways | WP3888 | VEGFA-VEGFR2 Signaling Pathway |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MYH9
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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