ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18)

2007-04-01  

Identity

HGNC
ADAMTS18
LOCATION
16q23.1
LOCUSID
170692
ALIAS
ADAMTS21,KNO2,MMCAT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 170692
MIM: 607512
HGNC: 17110
Ensembl: ENSG00000140873

Variants:

dbSNP: 170692
ClinVar: 170692
TCGA: ENSG00000140873
COSMIC: ADAMTS18

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140873ENST00000282849Q8TE60
ENSG00000140873ENST00000449265B4DEX3
ENSG00000140873ENST00000562332H3BMG1
ENSG00000140873ENST00000562345H3BTZ3

Expression (GTEx)

0
5
10
15
20
25
30
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
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-glycosylation of TSR domain-containing proteinsREACTOMER-HSA-5173214
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective B3GALTL causes Peters-plus syndrome (PpS)REACTOMER-HSA-5083635

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
381997722024[A family with developmental glaucoma and microcornea due to novel ADAMTS18 gene mutations].0
381997722024[A family with developmental glaucoma and microcornea due to novel ADAMTS18 gene mutations].0
366329112023Secreted protease ADAMTS18 in development and disease.5
366329112023Secreted protease ADAMTS18 in development and disease.5
334698852021Aberrant methylation of the 16q23.1 tumor suppressor gene ADAMTS18 promotes tumorigenesis and progression of clear cell renal cell carcinoma.4
343202162021Characterization of a functional endothelial super-enhancer that regulates ADAMTS18 and angiogenesis.8
334698852021Aberrant methylation of the 16q23.1 tumor suppressor gene ADAMTS18 promotes tumorigenesis and progression of clear cell renal cell carcinoma.4
343202162021Characterization of a functional endothelial super-enhancer that regulates ADAMTS18 and angiogenesis.8
322184322020The secreted protease Adamts18 links hormone action to activation of the mammary stem cell niche.21
322184322020The secreted protease Adamts18 links hormone action to activation of the mammary stem cell niche.21
304174222019Inactivation of ADAMTS18 by aberrant promoter hypermethylation contribute to lung cancer progression.9
304174222019Inactivation of ADAMTS18 by aberrant promoter hypermethylation contribute to lung cancer progression.9
283627042018Downregulation of ADAMTS18 May Serve as a Poor Prognostic Biomarker for Cervical Cancer Patients.5
283627042018Downregulation of ADAMTS18 May Serve as a Poor Prognostic Biomarker for Cervical Cancer Patients.5
285038602017Epigenetic silencing of ADAMTS18 promotes cell migration and invasion of breast cancer through AKT and NF-κB signaling.15

Citation

Dessen P

ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47184/gene-fusions/?id=47184