GENE NAME | MYL2 |
CHROMOSOME | 12 |
ENSEMBL ID | ENSG00000111245 |
ENTREZ ID | 4633 |
UNIPROT ACCESSION NUMBER | P10916 |
GO MOLECULAR FUNCTION | protein binding; actin monomer binding; calcium ion binding; structural constituent of muscle; myosin heavy chain binding; metal ion binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04260; R-HSA-397014; hsa05414; hsa05131; hsa04670; hsa05410; hsa04510; hsa04530; hsa04260; hsa04371; hsa04261; hsa05414; hsa05132; hsa05131; hsa04810; hsa05410; hsa04670; R-HSA-390522; hsa04371; hsa04510; hsa04530; hsa05132; hsa04261; hsa04810 |
1 combination linked to MYL2 | OLI672 |
1 variant linked to MYL2 | MYL2:p.Ala13Thr |
1 disease linked to MYL2 | Hypertrophic cardiomyopathy |