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The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012]
CD63 (CD63 Molecule) is a Protein Coding gene. Diseases associated with CD63 include Hermansky-Pudlak Syndrome and Storage Pool Platelet Disease. Among its related pathways are Lysosome and Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is TSPAN9.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16917503 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IDA | 25645918 |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | TAS,IDA | 22431521 |
GO:0005768 | endosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
2 | Innate Immune System |
.61
|
|
3 | Adhesion |
-
|
|
4 | NF-kappaB Signaling | ||
5 | Lysosome |
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002092 | positive regulation of receptor internalization | IMP | 23632027 |
GO:0002576 | platelet degranulation | TAS | -- |
GO:0007160 | cell-matrix adhesion | IMP | 23632027 |
GO:0015031 | protein transport | IEA | -- |
GO:0016477 | cell migration | IMP | 23632027 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | · | 13c | · | 13d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD63 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CD63 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CD63 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Cd63 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cd63 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | CD63 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cd63 30 |
|
||
Str.8003 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | cd63 30 31 |
|
OneToOne | |
-- 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9569 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Tsp29Fa 30 31 |
|
OneToMany | |
Tsp47F 31 |
|
OneToMany | |||
Tsp39D 31 |
|
OneToMany | |||
Tsp29Fb 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009651 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | tsp-7 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709893 | Benign: not provided | 55,726,691(-) | C/G | INTRON_VARIANT | |
776898 | Benign: not provided | 55,726,739(-) | G/A | SYNONYMOUS_VARIANT | |
rs483352715 | Uncertain Significance: not provided | 55,726,202(-) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hermansky-pudlak syndrome |
|
|
storage pool platelet disease |
|
|
ocular melanoma |
|
|
pollen allergy |
|
|
oculocutaneous albinism |
|
|