Free for academic non-profit institutions. Other users need a Commercial license
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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
TSPAN2 (Tetraspanin 2) is a Protein Coding gene. Diseases associated with TSPAN2 include Migraine, Familial Hemiplegic, 2 and Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations. An important paralog of this gene is CD9.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25814554 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA,TAS | 9714763 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006954 | inflammatory response | IEA | -- |
GO:0007420 | brain development | IEA | -- |
GO:0014002 | astrocyte development | IEA | -- |
GO:0014005 | microglia development | IEA | -- |
GO:0042552 | myelination | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TSPAN2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TSPAN2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TSPAN2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tspan2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Tspan2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TSPAN2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TSPAN2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TSPAN2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TSPAN2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tspan2 30 |
|
||
Str.12918 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | tspan2 31 |
|
OneToMany | |
TSPAN2 (2 of 2) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Tsp96F 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | tsp-9 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs189737200 | Benign: not provided | 115,060,547(-) |
G/A NM_005725.6(TSPAN2):c.271-9C>T |
INTRON | |
rs9659602 | Benign: not provided. - | 115,058,974(-) |
C/Ap.Arg118Leu NM_005725.6(TSPAN2):c.353G>T (p.Arg118Leu) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
migraine, familial hemiplegic, 2 |
|
|
vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations |
|
|
spastic paraplegia 2, x-linked |
|
|
migraine, familial hemiplegic, 1 |
|
|
hypertrophic neuropathy of dejerine-sottas |
|
|