• Gene id: 85366

Gene Summary

• Gene Symbol: MYLK2   Gene   UCSC   Ensembl
• Aliases: KMLC, MLCK, MLCK2, skMLCK
• Gene name: myosin light chain kinase 2
• Alternate names: myosin light chain kinase 2, skeletal/cardiac muscle, myosin light chain kinase 2, skeletal muscle,
• Gene location: 20q11.21 (31819355: 31834683)     Exons: 13     NC_000020.11
• Gene summary(Entrez): This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]
• OMIM: 604998

Protein Summary

• Protein general information: Q9H1R3  
  • Name: Myosin light chain kinase 2, skeletal/cardiac muscle (MLCK2) (EC 2.7.11.18)
  • Length: 596  
  • Mass: 64685
  • Tissue specificity: Heart and skeletal muscles. Increased expression in the apical tissue compared to the interventricular septal tissue.
• Sequence:

  MATENGAVELGIQNPSTDKAPKGPTGERPLAAGKDPGPPDPKKAPDPPTLKKDAKAPASEKGDGTLAQPSTSSQG
  PKGEGDRGGGPAEGSAGPPAALPQQTATPETSVKKPKAEQGASGSQDPGKPRVGKKAAEGQAAARRGSPAFLHSP
  SCPAIISSSEKLLAKKPPSEASELTFEGVPMTHSPTDPRPAKAEEGKNILAESQKEVGEKTPGQAGQAKMQGDTS
  RGIEFQAVPSEKSEVGQALCLTAREEDCFQILDDCPPPPAPFPHRMVELRTGNVSSEFSMNSKEALGGGKFGAVC
  TCMEKATGLKLAAKVIKKQTPKDKEMVLLEIEVMNQLNHRNLIQLYAAIETPHEIVLFMEYIEGGELFERIVDED
  YHLTEVDTMVFVRQICDGILFMHKMRVLHLDLKPENILCVNTTGHLVKIIDFGLARRYNPNEKLKVNFGTPEFLS
  PEVVNYDQISDKTDMWSMGVITYMLLSGLSPFLGDDDTETLNNVLSGNWYFDEETFEAVSDEAKDFVSNLIVKDQ
  RARMNAAQCLAHPWLNNLAEKAKRCNRRLKSQILLKKYLMKRRWKKNFIAVSAANRFKKISSSGALMALGV

• Structural information:
  • Protein Domains: (285..54-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR042717  IPR000719  IPR017441  IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • CDD: cd14190
  • PDB: 2LV6 3KF9
  • PDBsum: 2LV6 3KF9
  • STRING: ENSP00000365162
• Other Databases: GeneCards:  MYLK2  Malacards:  MYLK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055008	cardiac muscle tissue morphogenesis	IBA	biological process
GO:0004687	myosin light chain kinase activity	IBA	molecular function
GO:0032027	myosin light chain binding	IBA	molecular function
GO:0006941	striated muscle contraction	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004687	myosin light chain kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004687	myosin light chain kinase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014816	skeletal muscle satellite cell differentiation	IEA	biological process
GO:0007274	neuromuscular synaptic transmission	IEA	biological process
GO:0004687	myosin light chain kinase activity	IDA	molecular function
GO:0005516	calmodulin binding	IC	molecular function
GO:0004683	calmodulin-dependent protein kinase activity	ISS	molecular function
GO:0004687	myosin light chain kinase activity	ISS	molecular function
GO:0005516	calmodulin binding	ISS	molecular function
GO:0032971	regulation of muscle filament sliding	IDA	biological process
GO:0006941	striated muscle contraction	IDA	biological process
GO:0030017	sarcomere	IC	cellular component
GO:0060048	cardiac muscle contraction	IC	biological process
GO:0060048	cardiac muscle contraction	IC	biological process
GO:0055008	cardiac muscle tissue morphogenesis	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0035914	skeletal muscle cell differentiation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0018107	peptidyl-threonine phosphorylation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa04020	Calcium signaling pathway
hsa04510	Focal adhesion
hsa04022	cGMP-PKG signaling pathway
hsa04921	Oxytocin signaling pathway
hsa04371	Apelin signaling pathway
hsa04270	Vascular smooth muscle contraction
hsa04611	Platelet activation
hsa04971	Gastric acid secretion

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq