ADAMTS19 (ADAM metallopeptidase with thrombospondin type 1 motif 19)

2014-08-01  

Identity

HGNC
ADAMTS19
LOCATION
5q23.3
LOCUSID
171019
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 171019
MIM: 607513
HGNC: 17111
Ensembl: ENSG00000145808

Variants:

dbSNP: 171019
ClinVar: 171019
TCGA: ENSG00000145808
COSMIC: ADAMTS19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145808ENST00000274487A0A1X7SBR9
ENSG00000145808ENST00000502709H0Y8Y0
ENSG00000145808ENST00000505791D6R9M2

Expression (GTEx)

0
5
10
15
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
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
N/A

References

Pubmed IDYearTitleCitations
195089982009Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene.23
195089982009Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene.23
240146092013Epistasis between IGF2R and ADAMTS19 polymorphisms associates with premature ovarian failure.7
250512872015Epistasis between polymorphisms in ACVR2B and ADAMTS19 is associated with premature ovarian failure.3
318443212020Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.3
280882712017ADAMTS-3, -13, -16, and -19 levels in patients with habitual abortion.2

Citation

Dessen P

ADAMTS19 (ADAM metallopeptidase with thrombospondin type 1 motif 19)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54107/adamts19