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TM7SF3 (Transmembrane 7 Superfamily Member 3) is a Protein Coding gene. Diseases associated with TM7SF3 include Basal Cell Nevus Syndrome and Cohen Syndrome.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA,IDA | 10828615 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0032024 | positive regulation of insulin secretion | IMP | 21853325 |
GO:0034620 | cellular response to unfolded protein | IMP | 27740623 |
GO:0043069 | negative regulation of programmed cell death | IMP | 21853325 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TM7SF3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TM7SF3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TM7SF3 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TM7SF3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tm7sf3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Tm7sf3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TM7SF3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TM7SF3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TM7SF3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.18521 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tm7sf3 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012612 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs34735713 | Benign: not provided. - | 26,995,391(-) |
G/Cp.Pro179Arg NM_016551.3(TM7SF3):c.536C>G (p.Pro179Arg) |
MISSENSE | |
rs10771314 | - |
p.Pro248Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2196642 | CNV | deletion | 18987734 |
esv2509925 | CNV | deletion | 19546169 |
esv2674997 | CNV | deletion | 23128226 |
esv2745662 | CNV | deletion | 23290073 |
esv3628924 | CNV | loss | 21293372 |
esv3892164 | CNV | loss | 25118596 |
esv3892165 | CNV | loss | 25118596 |
nsv523964 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
basal cell nevus syndrome |
|
|
cohen syndrome |
|
|