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TOR3A (Torsin Family 3 Member A) is a Protein Coding gene. Diseases associated with TOR3A include Echolalia and Atypical Autism. Gene Ontology (GO) annotations related to this gene include ATPase activity. An important paralog of this gene is TOR1B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005524 | ATP binding | IEA | -- |
GO:0016887 | ATPase activity | IBA,IDA | 23569223 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005635 | nuclear envelope | IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 11863361 |
GO:0005788 | endoplasmic reticulum lumen | IBA,IDA | 11863361 |
GO:0070062 | extracellular exosome | HDA | 19199708 |
Symbol | External ID(s) | Details |
---|---|---|
ARSG | ||
CANX | ||
ENSG00000206549 | ||
OMA1 | ||
TOR1A |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TOR3A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TOR3A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TOR3A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tor3a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tor3a 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | TOR3A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TOR3A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TOR3A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tor3a 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tor3a 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Torsin 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | tor-1 31 |
|
ManyToMany | |
ooc-5 31 |
|
ManyToMany | |||
tor-2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7178 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2296377 | - | p.Phe13Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2658665 | CNV | deletion | 23128226 |
esv3588046 | CNV | loss | 21293372 |
nsv3721 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
echolalia |
|
|
atypical autism |
|
|
childhood disintegrative disease |
|
|
apperceptive agnosia |
|
|
speech and communication disorders |
|
|