GENE NAME | MYH9 |
CHROMOSOME | 22 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000100345 |
UNIPROT ACCESSION NUMBER | P35579 |
GO MOLECULAR FUNCTION | ['protein homodimerization activity', 'integrin binding', 'calmodulin binding', 'cadherin binding', 'protein binding', 'RNA binding', 'ADP binding', 'protein domain specific binding', 'cytoskeletal motor activity', 'protein-membrane adaptor activity', 'actin binding', 'microfilament motor activity', 'actin filament binding', 'identical protein binding', 'ATP binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04270; hsa04530; hsa04810; hsa05130; hsa04270; hsa04530; hsa04810; hsa05130; R-HSA-1266738; R-HSA-1445148; R-HSA-162582; R-HSA-1643685; R-HSA-168249; R-HSA-168256; R-HSA-194315; R-HSA-195258; R-HSA-199991; R-HSA-2029480; R-HSA-2029482; R-HSA-2682334; R-HSA-373755; R-HSA-3928663; R-HSA-400685; R-HSA-416572; R-HSA-422475; R-HSA-5625740; R-HSA-5625900; R-HSA-5627117; R-HSA-5627123; R-HSA-5653656; R-HSA-5663205; R-HSA-9658195; R-HSA-9662834; R-HSA-9662851; R-HSA-9664407; R-HSA-9664417; R-HSA-9664422; R-HSA-9664433; R-HSA-9675108 |
1 combination linked to MYH9 | OLI1803 |
1 variant linked to MYH9 | MYH9:c.3334C>T, p.Gln1112Ter |
1 disease linked to MYH9 | Hypoplastic left heart syndrome |