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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. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
TSPAN16 (Tetraspanin 16) is a Protein Coding gene. Diseases associated with TSPAN16 include Hyperoxaluria, Primary, Type Ii and Migraine, Familial Hemiplegic, 1. An important paralog of this gene is TSPAN1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | TAS | 10500248 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TSPAN16 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TSPAN16 30 |
|
||
Cow (Bos Taurus) |
Mammalia | TSPAN16 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs17001344 | - | p.Leu55Pro | |||
rs318687 | - | p.Ser233Cys | |||
rs34162761 | - | p.Tyr53Asp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2659694 | CNV | deletion | 23128226 |
esv3643668 | CNV | loss | 21293372 |
esv3643669 | CNV | loss | 21293372 |
esv3643670 | CNV | loss | 21293372 |
nsv1116300 | CNV | deletion | 24896259 |
nsv519802 | CNV | loss | 19592680 |
nsv578615 | CNV | loss | 21841781 |
nsv833752 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperoxaluria, primary, type ii |
|
|
migraine, familial hemiplegic, 1 |
|
|
familial hemiplegic migraine |
|
|
migraine with aura |
|
|
hyperoxaluria, primary, type i |
|
|