ADAMTS16

ADAM Metallopeptidase with Thrombospondin Type 1 Motif 16

Gene Information Card

Symbol ADAMTS16
Full Name ADAM metallopeptidase with thrombospondin type 1 motif 16
Gene Type protein-coding
Chromosomal Location 5p15.32
NCBI Gene ID 170689 ncbi.nlm.nih.gov/gene/170689
Ensembl ID ENSG00000145675
UniProt ID Q8TE57
OMIM ID 607510
HGNC ID 17162
Aliases ADAMTS16, ADAMTS-16, ADAMTS16A, ADAMTS16B

Description

ADAMTS16 encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of zinc-dependent metalloproteinases. The protein is involved in extracellular matrix remodeling, proteoglycan cleavage, and cell adhesion. It is expressed in various tissues and has been implicated in cardiovascular, renal, and reproductive functions.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Osteoarthritis ADAMTS16 may contribute to cartilage degradation via aggrecanase activity, though direct evidence is limited. ClinVar, NCBI Gene
Hypertension Genetic variants in ADAMTS16 have been associated with blood pressure regulation in genome-wide association studies. OMIM, NCBI Gene
Renal fibrosis Upregulation of ADAMTS16 in kidney tissues may promote fibrotic remodeling. NCBI Gene, UniProt

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Kidney 8.3 Medium
Lung 6.1 Low
Heart 4.7 Low
Brain 2.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
HEK 293 3.2 Low expression
A549 5.8 Moderate expression
HepG2 1.5 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412*) Nonsense <0.1% Loss of function; predicted to cause nonsense-mediated decay
c.567G>A (p.Trp189*) Nonsense <0.1% Loss of function; truncation of protein
c.890A>G (p.Asn297Ser) Missense 0.2% Unknown; possibly benign
Mutation functional classification

Loss of Function (LOF)

Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to premature stop codons and likely loss of protein function.

Gain of Function (GOF)

No gain-of-function mutations have been reported for ADAMTS16.

Dominant Negative (DN)

No dominant-negative mutations have been described for ADAMTS16.

Gene Ontology (GO)

• metalloendopeptidase activity • extracellular matrix organization
• proteolysis • zinc ion binding
• integrin binding

Pathways

Extracellular matrix organization
Degradation of the extracellular matrix
ADAMTS-mediated proteoglycan cleavage

Protein Summary

ADAMTS16 is a secreted zinc-dependent metalloproteinase that cleaves proteoglycans such as aggrecan and versican. It contains a signal peptide, a prodomain, a catalytic domain with a zinc-binding motif, a disintegrin-like domain, a central thrombospondin type 1 repeat, and a C-terminal region with additional thrombospondin repeats. The protein is involved in extracellular matrix turnover and cell-matrix interactions.

Related Products

Product name Cat.No. Species Gene ID
ADAMTS16 Knockout HEK293 Cell Line EDJ-KQ12282 Human 170690 Details Get a Quote
ADAMTS16 Knockout HeLa Cell Line EDJ-KQ41087 Human 170690 Details Get a Quote
ADAMTS16 Knockout A-549 Cell Line EDJ-KQ67432 Human 170690 Details Get a Quote
ADAMTS16 Knockout HCT 116 Cell Line EDJ-KQ75828 Human 170690 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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