Hs07214092_cn

• Gene Symbol: MYLK2
• Assay Reference Genome Location: Chr.20:31824798 on build GRCh38
• Cytoband: 20q11.21

Target Gene Details

• Entrez Gene ID: 85366
• Gene Name: myosin light chain kinase 2
• Gene Aliases: KMLC, MLCK, MLCK2, skMLCK
• Location: Chr.20:31819375-31834697 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYLK2	NM_033118.3			NP_149109.1
	AF325549.1			AAK15494.1
	AJ272502.1			CAC81354.1
	BC069627.1			AAH69627.1
	BC092413.1			AAH92413.1
	BC127622.1
	BX647635.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	TPX2 DEFB116 BCL2L1 COX4I2 PDRG1 DUSP15 REM1 DEFB119 TTLL9 CCM2L MYLK2 DEFB124 DEFB117 LINC00028 MIR3193 DEFB118 DEFB123 HM13 DEFB115 HM13-AS1 LOC107985416 ABALON ID1 XKR7 DEFB122 FOXS1 DEFB121

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

striated muscle contraction
neuromuscular synaptic transmission
positive regulation of gene expression
skeletal muscle satellite cell differentiation
peptidyl-threonine phosphorylation
regulation of muscle filament sliding
skeletal muscle cell differentiation
protein autophosphorylation
cardiac muscle tissue morphogenesis
cardiac muscle contraction

Function(s)

calmodulin-dependent protein kinase activity
myosin light chain kinase activity
protein binding
calmodulin binding
ATP binding