ADAMTS19
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 19
Gene Information Card
| Symbol | ADAMTS19 |
|---|---|
| Full Name | ADAM metallopeptidase with thrombospondin type 1 motif 19 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 171019 ncbi.nlm.nih.gov/gene/171019 |
| Ensembl ID | ENSG00000145819 |
| UniProt ID | Q8TE59 |
| OMIM ID | 607513 |
| HGNC ID | 13209 |
| Aliases | ADAMTS-19, ADAMTS19L |
Description
ADAMTS19 encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of zinc-dependent proteases. The protein contains a signal peptide, a prodomain, a metalloproteinase domain, a disintegrin-like domain, and multiple thrombospondin type 1 repeats. It is involved in extracellular matrix remodeling, cell adhesion, and proteolytic processing. ADAMTS19 is expressed in various tissues, including heart, skeletal muscle, and ovary, and has been implicated in cardiac development and connective tissue disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Heart valve defects | Loss-of-function mutations in ADAMTS19 disrupt extracellular matrix homeostasis in cardiac valves | ClinVar, OMIM |
| Connective tissue disorder | Altered proteolytic activity affecting collagen and proteoglycan turnover | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 5.2 | Low |
| Skeletal muscle | 3.8 | Low |
| Ovary | 2.1 | Low |
| Testis | 1.5 | Not detected |
| Lung | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.3 | Low expression |
| HeLa | 0.1 | Not detected |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to premature termination and likely haploinsufficiency
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • extracellular matrix organization |
| • proteolysis | • zinc ion binding |
| • cell adhesion |
Pathways
• Extracellular matrix organization
• ADAMTS-mediated proteolysis
Protein Summary
ADAMTS19 is a secreted zinc-dependent metalloprotease that cleaves extracellular matrix components such as aggrecan and versican. It contains a signal peptide, prodomain, catalytic domain, disintegrin-like domain, and thrombospondin type 1 repeats. The protein is involved in tissue morphogenesis, particularly in heart valve development, and its dysfunction is associated with connective tissue abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS19 Knockout HEK293 Cell Line | EDJ-KQ3225 | Human | 171019 | Details Get a Quote |
| ADAMTS19 Knockout HeLa Cell Line | EDJ-KQ58950 | Human | 171019 | Details Get a Quote |
| ADAMTS19 Knockout A-549 Cell Line | EDJ-KQ67438 | Human | 171019 | Details Get a Quote |
| ADAMTS19 Knockout HCT 116 Cell Line | EDJ-KQ75833 | Human | 171019 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
