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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 is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq, Jul 2008]
TSPAN31 (Tetraspanin 31) is a Protein Coding gene. Diseases associated with TSPAN31 include Well-Differentiated Liposarcoma and Hereditary Melanoma. An important paralog of this gene is TSPAN13.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 32296183 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005887 | integral component of plasma membrane | TAS,IBA | 21873635 |
GO:0016020 | membrane | IEA,TAS | 8134123 |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008284 | positive regulation of cell proliferation | TAS | 8134123 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | · | 7c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||
SP8: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TSPAN31 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TSPAN31 30 |
|
||
SAS 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | TSPAN31 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tspan31 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tspan31 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | TSPAN31 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tspan31 30 |
|
||
Str.10756 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | sas 30 31 |
|
OneToOne | |
zgc56710 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Tsp97E 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10763 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
834447 | Uncertain Significance: Hereditary melanoma | 57,748,602(+) |
T/TAA NM_000075.4(CDK4):c.833_834dup (p.Asn279fs) |
FRAMESHIFT_VARIANT,THREE_PRIME_UTR | |
841483 | Uncertain Significance: Hereditary melanoma | 57,748,556(+) |
T/C NM_000075.4(CDK4):c.881A>G (p.Tyr294Cys) |
MISSENSE_VARIANT,THREE_PRIME_UTR | |
842652 | Uncertain Significance: Hereditary melanoma | 57,749,484(+) |
G/C NM_000075.4(CDK4):c.653C>G (p.Ser218Cys) |
MISSENSE_VARIANT,THREE_PRIME_UTR | |
845930 | Uncertain Significance: Hereditary melanoma | 57,749,280(+) |
C/G NM_000075.4(CDK4):c.721G>C (p.Asp241His) |
MISSENSE_VARIANT,THREE_PRIME_UTR | |
854997 | Uncertain Significance: Hereditary melanoma | 57,749,484(+) |
G/T NM_000075.4(CDK4):c.653C>A (p.Ser218Tyr) |
MISSENSE_VARIANT,THREE_PRIME_UTR |
Disorder | Aliases | PubMed IDs |
---|---|---|
well-differentiated liposarcoma |
|
|
hereditary melanoma |
|
|
liposarcoma |
|
|
familial retinoblastoma |
|
|
peripheral osteosarcoma |
|
|