Gene Gene information from NCBI Gene database.
Entrez ID 4638
Gene name Myosin light chain kinase
Gene symbol MYLK
Synonyms (NCBI Gene)
AAT7KRPMLCKMLCK1MLCK108MLCK210MMIHSMMIHS1MSTP083MYLK-LMYLK1smMLCK
Chromosome 3
Chromosome location 3q21.1
Summary This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin fila
SNPs SNP information provided by dbSNP.
23
SNP ID Visualize variation Clinical significance Consequence
rs56378658 C>T Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Coding sequence variant, missense variant, genic upstream transcript variant
rs78118111 G>A,C Likely-benign, benign, conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs113607507 G>A Conflicting-interpretations-of-pathogenicity, benign, likely-benign Genic upstream transcript variant, intron variant
rs150378280 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Genic upstream transcript variant, coding sequence variant, synonymous variant
rs199988497 C>T Benign, conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
679
miRTarBase ID miRNA Experiments Reference
MIRT016318 hsa-miR-193b-3p Microarray 20304954
MIRT020526 hsa-miR-155-5p Other 20584899
MIRT021378 hsa-miR-9-5p Microarray 17612493
MIRT020526 hsa-miR-155-5p Luciferase reporter assayqRT-PCRWestern blot 24486510
MIRT717749 hsa-miR-8063 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001725 Component Stress fiber IBA
GO:0001725 Component Stress fiber IDA 15020676
GO:0001725 Component Stress fiber IEA
GO:0003779 Function Actin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600922 7590 ENSG00000065534
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15746
Protein name Myosin light chain kinase, smooth muscle (MLCK) (smMLCK) (EC 2.7.11.18) (Kinase-related protein) (KRP) (Telokin) [Cleaved into: Myosin light chain kinase, smooth muscle, deglutamylated form]
Protein function Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-kinase activity. Phosphorylates PTK2B/PYK2 and
PDB 2CQV , 2K0F , 2YR3 , 5JQA , 5JTH , 6C6M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 33 123 Immunoglobulin I-set domain Domain
PF07679 I-set 161 250 Immunoglobulin I-set domain Domain
PF16620 23ISL 251 412 Disordered
PF07679 I-set 414 504 Immunoglobulin I-set domain Domain
PF07679 I-set 514 600 Immunoglobulin I-set domain Domain
PF07679 I-set 623 712 Immunoglobulin I-set domain Domain
PF07679 I-set 721 811 Immunoglobulin I-set domain Domain
PF07679 I-set 1098 1187 Immunoglobulin I-set domain Domain
PF07679 I-set 1238 1327 Immunoglobulin I-set domain Domain
PF00041 fn3 1332 1416 Fibronectin type III domain Domain
PF00069 Pkinase 1464 1719 Protein kinase domain Domain
PF07679 I-set 1809 1899 Immunoglobulin I-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Smooth muscle and non-muscle isozymes are expressed in a wide variety of adult and fetal tissues and in cultured endothelium with qualitative expression appearing to be neither tissue- nor development-specific. Non-muscle isoform 2 is
Sequence
MGDVKLVASSHISKTSLSVDPSRVDSMPLTEAPAFILPPRNLCIKEGATAKFEGRVRGYP
EPQVTWHRNGQPITSGGRFLLDCGIRGTFSLVIHAVHEEDRGKYTCEATNGSGARQVTVE
LTV
EGSFAKQLGQPVVSKTLGDRFSAPAVETRPSIWGECPPKFATKLGRVVVKEGQMGRF
SCKITGRPQPQVTWLKGNVPLQPSARVSVSEKNGMQVLEIHGVNQDDVGVYTCLVVNGSG
KASMSAELSI
QGLDSANRSFVRETKATNSDVRKEVTNVISKESKLDSLEAAAKSKNCSSP
QRGGSPPWAANSQPQPPRESKLESCKDSPRTAPQTPVLQKTSSSITLQAARVQPEPRAPG
LGVLSPSGEERKRPAPPRPATFPTRQPGLGSQDVVSKAANRRIPMEGQRDSA
FPKFESKP
QSQEVKENQTVKFRCEVSGIPKPEVAWFLEGTPVRRQEGSIEVYEDAGSHYLCLLKARTR
DSGTYSCTASNAQGQLSCSWTLQV
ERLAVMEVAPSFSSVLKDCAVIEGQDFVLQCSVRGT
PVPRITWLLNGQPIQYARSTCEAGVAELHIQDALPEDHGTYTCLAENALGQVSCSAWVTV

HEKKSSRKSEYLLPVAPSKPTAPIFLQGLSDLKVMDGSQVTMTVQVSGNPPPEVIWLHNG
NEIQESEDFHFEQRGTQHSLCIQEVFPEDTGTYTCEAWNSAGEVRTQAVLTV
QEPHDGTQ
PWFISKPRSVTASLGQSVLISCAIAGDPFPTVHWLRDGKALCKDTGHFEVLQNEDVFTLV
LKKVQPWHAGQYEILLKNRVGECSCQVSLML
QNSSARALPRGREPASCEDLCGGGVGADG
GGSDRYGSLRPGWPARGQGWLEEEDGEDVRGVLKRRVETRQHTEEAIRQQEVEQLDFRDL
LGKKVSTKTLSEDDLKEIPAEQMDFRANLQRQVKPKTVSEEERKVHSPQQVDFRSVLAKK
GTSKTPVPEKVPPPKPATPDFRSVLGGKKKLPAENGSSSAETLNAKAVESSKPLSNAQPS
GPLKPVGNAKPAETLKPMGNAKPAETLKPMGNAKPDENLKSASKEELKKDVKNDVNCKRG
HAGTTDNEKRSESQGTAPAFKQKLQDVHVAEGKKLLLQCQVSSDPPATIIWTLNGKTLKT
TKFIILSQEGSLCSVSIEKALPEDRGLYKCVAKNDAGQAECSCQVTV
DDAPASENTKAPE
MKSRRPKSSLPPVLGTESDATVKKKPAPKTPPKAAMPPQIIQFPEDQKVRAGESVELFGK
VTGTQPITCTWMKFRKQIQESEHMKVENSENGSKLTILAARQEHCGCYTLLVENKLGSRQ
AQVNLTV
VDKPDPPAGTPCASDIRSSSLTLSWYGSSYDGGSAVQSYSIEIWDSANKTWKE
LATCRSTSFNVQDLLPDHEYKFRVRAINVYGTSEPS
QESELTTVGEKPEEPKDEVEVSDD
DEKEPEVDYRTVTINTEQKVSDFYDIEERLGSGKFGQVFRLVEKKTRKVWAGKFFKAYSA
KEKENIRQEISIMNCLHHPKLVQCVDAFEEKANIVMVLEIVSGGELFERIIDEDFELTER
ECIKYMRQISEGVEYIHKQGIVHLDLKPENIMCVNKTGTRIKLIDFGLARRLENAGSLKV
LFGTPEFVAPEVINYEPIGYATDMWSIGVICYILVSGLSPFMGDNDNETLANVTSATWDF
DDEAFDEISDDAKDFISNLLKKDMKNRLDCTQCLQHPWL
MKDTKNMEAKKLSKDRMKKYM
ARRKWQKTGNAVRAIGRLSSMAMISGLSGRKSSTGSPTSPLNAEKLESEEDVSQAFLEAV
AEEKPHVKPYFSKTIRDLEVVEGSAARFDCKIEGYPDPEVVWFKDDQSIRESRHFQIDYD
EDGNCSLIISDVCGDDDAKYTCKAVNSLGEATCTAELIV
ETMEEGEGEGEEEEE
Sequence length 1914
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Calcium signaling pathway
cGMP-PKG signaling pathway
Vascular smooth muscle contraction
Apelin signaling pathway
Focal adhesion
Platelet activation
Regulation of actin cytoskeleton
Oxytocin signaling pathway
Gastric acid secretion
  Smooth Muscle Contraction
RHO GTPases activate PAKs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
49
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Aortic aneurysm, familial thoracic 7 Likely pathogenic; Pathogenic rs1237794394, rs2108273387, rs1047937861, rs2108006223, rs2108273583, rs2059058650, rs2107974888, rs2108578389, rs2108112355, rs2108340106, rs2474180246, rs2474176082, rs2473640876, rs886229659, rs1553781304
View all (18 more)
RCV001379261
RCV001380831
RCV001876664
RCV002036733
RCV001941678
View all (28 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection Likely pathogenic; Pathogenic rs387906781, rs387906782, rs1553808296, rs1382893400 RCV000603875
RCV001798012
RCV000615028
RCV005682348
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated thoracic aortic aneurysm Likely pathogenic rs2108577268 RCV001374783
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megacystis, microcolon, hypoperistalsis syndrome Pathogenic rs1553787823 RCV001804175
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Aortic aneurysm, familial abdominal, 1 Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aortic aneurysm, familial thoracic 6 Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial septal defect Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 33083483 Associate
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 28566491
★☆☆☆☆
Found in Text Mining only
Aneurysm Aneurysm Pubtator 29544503 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm HPO_DG
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 11436088, 34852854 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Thoracic Thoracic aortic aneurysm Pubtator 26017485, 26854089 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 11436088
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm HPO_DG
★☆☆☆☆
Found in Text Mining only
AORTIC ANEURYSM, FAMILIAL THORACIC 7 Aortic Aneurysm GENOMICS_ENGLAND_DG 21055718, 25907466, 26188975
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AORTIC ANEURYSM, FAMILIAL THORACIC 7 Aortic Aneurysm UNIPROT_DG 21055718
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)