Homo sapiens Protein: MYLK2 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-64015.5 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | MYLK2 | ||||||||||||||||||
Protein Name | myosin light chain kinase 2 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000365152 | ||||||||||||||||||
InnateDB Gene | IDBG-64011 (MYLK2) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific serine in the N- terminus of a myosin light chain. {ECO:0000269PubMed:11733062}. | ||||||||||||||||||
Subcellular Localization | Cytoplasm. Note=Colocalizes with phosphorylated myosin light chain (RLCP) at filaments of the myofibrils. | ||||||||||||||||||
Disease Associations | Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269PubMed:11733062}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Heart and skeletal muscles. Increased expression in the apical tissue compared to the interventricular septal tissue. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000719
Protein kinase domain IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain IPR011009 Protein kinase-like domain IPR020635 Tyrosine-protein kinase, catalytic domain |
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PFAM |
PF00069
PF07714 |
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PRINTS |
PR00109
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PIRSF | |||||||||||||||||||
SMART |
SM00220
SM00219 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9H1R3 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9H1R3 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 85366 | ||||||||||||||||||
UniGene | |||||||||||||||||||
RefSeq | NP_149109 | ||||||||||||||||||
HUGO | HGNC:16243 | ||||||||||||||||||
OMIM | 606566 | ||||||||||||||||||
CCDS | CCDS13191 | ||||||||||||||||||
HPRD | 05953 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AF325549 AJ272502 AL160175 BC007753 BC069627 BC092413 BC127622 | ||||||||||||||||||
GenPept | AAH07753 AAH69627 AAH92413 AAI27623 AAK15494 CAC10006 CAC81354 | ||||||||||||||||||