MYLK2 (myosin light chain kinase 2)

2006-10-01  

Identity

HGNC
MYLK2
LOCATION
20q11.21
LOCUSID
85366
ALIAS
KMLC,MLCK,MLCK2,skMLCK

Other Information

Locus ID:

NCBI: 85366
MIM: 606566
HGNC: 16243
Ensembl: ENSG00000101306

Variants:

dbSNP: 85366
ClinVar: 85366
TCGA: ENSG00000101306
COSMIC: MYLK2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101306ENST00000375985Q9H1R3
ENSG00000101306ENST00000375994Q9H1R3

Expression (GTEx)

0
50
100
150
200
250
300
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Focal adhesionKEGGko04510
Regulation of actin cytoskeletonKEGGko04810
Calcium signaling pathwayKEGGhsa04020
Focal adhesionKEGGhsa04510
Regulation of actin cytoskeletonKEGGhsa04810
Vascular smooth muscle contractionKEGGhsa04270
Vascular smooth muscle contractionKEGGko04270
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
Platelet activationKEGGhsa04611
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
334559842021FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy.3
340000082021A novel tumor suppressor role of myosin light chain kinase splice variants through downregulation of the TEAD4/CD44 axis.3
334559842021FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy.3
340000082021A novel tumor suppressor role of myosin light chain kinase splice variants through downregulation of the TEAD4/CD44 axis.3
258254562016Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family.13
258254562016Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family.13
196671952009Single-molecule force spectroscopy distinguishes target binding modes of calmodulin.12
196671952009Single-molecule force spectroscopy distinguishes target binding modes of calmodulin.12
188281942008Variation in the myosin light chain kinase gene is associated with development of acute lung injury after major trauma.62
188281942008Variation in the myosin light chain kinase gene is associated with development of acute lung injury after major trauma.62
164487862006Mutational analysis of the kinase domain of MYLK2 gene in common human cancers.6
164487862006Mutational analysis of the kinase domain of MYLK2 gene in common human cancers.6
164487862006Mutational analysis of the kinase domain of MYLK2 gene in common human cancers.6
164487862006Mutational analysis of the kinase domain of MYLK2 gene in common human cancers.6
145007142003P2X1-mediated ERK2 activation amplifies the collagen-induced platelet secretion by enhancing myosin light chain kinase activation.14

Citation

Dessen P

MYLK2 (myosin light chain kinase 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43365/favicon/css/card-gene.css