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This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016]
ADAMTS8 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 8) is a Protein Coding gene. Diseases associated with ADAMTS8 include Keshan Disease and Colorectal Cancer, Hereditary Nonpolyposis, Type 2. Among its related pathways are O-linked glycosylation and Diseases of glycosylation. Gene Ontology (GO) annotations related to this gene include heparin binding and integrin binding. An important paralog of this gene is ADAMTS1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004222 | metalloendopeptidase activity | IBA | 21873635 |
GO:0005178 | integrin binding | TAS | 10438512 |
GO:0008201 | heparin binding | IEA | -- |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008237 | metallopeptidase activity | TAS | 10438512 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0031012 | extracellular matrix | IBA | 21873635 |
GO:0062023 | colocalizes_with collagen-containing extracellular matrix | ISS | 22261194 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | O-glycosylation of TSR domain-containing proteins | ||
2 | Degradation of the extracellular matrix | ||
3 | Diseases of glycosylation | ||
4 | Metabolism of proteins | ||
5 | HIV Life Cycle |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IEA | -- |
GO:0008285 | negative regulation of cell proliferation | TAS | 10438512 |
GO:0030198 | extracellular matrix organization | IBA | 21873635 |
GO:0035435 | phosphate ion transmembrane transport | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ADAMTS8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ADAMTS8 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Adamts8 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Adamts8 30 |
|
||
Cow (Bos Taurus) |
Mammalia | ADAMTS8 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ADAMTS8 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ADAMTS8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ADAMTS8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ADAMTS8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | adamts8 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | adamts8a 30 31 |
|
OneToMany | |
adamts15b 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs199760382 | Uncertain Significance: Oromandibular-limb hypogenesis spectrum | 130,406,119(-) |
G/T NM_007037.6(ADAMTS8):c.2109C>A (p.Tyr703Ter) |
NONSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
keshan disease |
|
|
colorectal cancer, hereditary nonpolyposis, type 2 |
|
|