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This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]
ADAM9 (ADAM Metallopeptidase Domain 9) is a Protein Coding gene. Diseases associated with ADAM9 include Cone-Rod Dystrophy 9 and Cone-Rod Dystrophy 2. Among its related pathways are Degradation of the extracellular matrix and Copper homeostasis. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and integrin binding. An important paralog of this gene is ADAM12.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004222 | metalloendopeptidase activity | IMP | 22480688 |
GO:0005080 | protein kinase C binding | ISS | 8647900 |
GO:0005178 | integrin binding | IPI | 17704059 |
GO:0005515 | protein binding | IPI | 10527948 |
GO:0005518 | collagen binding | IMP | 15361064 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | ISS | 8647900 |
GO:0005886 | plasma membrane | IEA | -- |
GO:0005925 | focal adhesion | HDA | 21423176 |
GO:0009986 | cell surface | ISS | 8647900 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Degradation of the extracellular matrix | ||
2 | Adhesion |
-
|
|
3 | Cytoskeletal Signaling | ||
4 | A-beta Plaque Formation and APP Metabolism | ||
5 | Notch Signaling Pathway (sino) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000186 | activation of MAPKK activity | IDA | 17704059 |
GO:0006508 | proteolysis | IEA | -- |
GO:0006509 | membrane protein ectodomain proteolysis | IMP | 22480688 |
GO:0007155 | cell adhesion | IMP | 11162558 |
GO:0007160 | cell-matrix adhesion | IMP | 15361064 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ADAM9 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ADAM9 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ADAM9 30 |
|
||
ADAM-9 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | Adam9 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Adam9 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ADAM9 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ADAM9 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ADAM9 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | adam9 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | adam9-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | adam9 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | mmd 32 |
|
|
|
Neu3 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | adm-1 32 |
|
|
|
adm-2 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
677215 | Benign: not provided | 39,082,773(+) | GAAATCTCAGGACTAG | INTRON_VARIANT | |
729582 | Conflicting Interpretations: Cone-rod dystrophy 9; not provided | 39,090,069(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
737760 | Benign/Likely Benign: Cone-rod dystrophy 9; not provided | 39,054,572(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
770747 | Benign: not provided | 39,023,332(+) | AT/A | INTRON_VARIANT | |
775265 | Benign/Likely Benign: Cone-rod dystrophy 9; not provided | 39,023,298(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1147428 | CNV | insertion | 17803354 |
esv2659169 | CNV | deletion | 23128226 |
esv2736897 | CNV | deletion | 23290073 |
esv2795 | CNV | loss | 18987735 |
esv3543384 | CNV | deletion | 23714750 |
esv3543385 | CNV | deletion | 23714750 |
esv9208 | CNV | gain | 19470904 |
nsv1076079 | CNV | deletion | 25765185 |
nsv1115088 | CNV | deletion | 24896259 |
nsv1118049 | CNV | deletion | 24896259 |
nsv1136005 | CNV | deletion | 24896259 |
nsv1148609 | CNV | deletion | 26484159 |
nsv1151331 | CNV | insertion | 26484159 |
nsv477373 | CNV | novel sequence insertion | 20440878 |
nsv515080 | CNV | gain | 21397061 |
nsv524818 | CNV | loss | 19592680 |
nsv6162 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cone-rod dystrophy 9 |
|
|
cone-rod dystrophy 2 |
|
|
retinitis pigmentosa |
|
|
alveolar soft part sarcoma |
|
|
skin melanoma |
|
|