| Type | Description |
|---|---|
| Definition | torsin family 3 member A |
| Date | Results | Publications |
|---|---|---|
| 2020-02-01 12:50:00 | Our study identified five new loci associated with VKH susceptibility and identified a functional variant (lnc-TOR3A-1:1/rs3829794) that confers risk for VKH, which is possibly mediated by modulating gene expression, proliferation of lymphocytes, and regulation of anti-inflammatory cytokine production. | 31747682 |
| 2010-06-30 22:06:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| 2010-04-07 21:40:00 | Observational study of gene-disease association. (HuGE Navigator) | 20237496 |
| Type | IDs |
|---|---|
| Synonymous | ADIR, ADIR2 |
| Gene |
UniProtKB-ID:
TOR3A_HUMAN
UniprotKB:
Q9H497
UniParc:
UPI000006DC41,
UPI000006F204,
UPI000048AAA8
EMBL:
BC088368,
AJ318046,
AJ299441,
AJ318044,
AJ299403,
AK025998,
AJ318050,
AJ318049,
BC007571,
AL139132,
AJ318045,
AJ318048,
AJ318047,
AK299966,
BC011746,
AK316530,
BC018292,
CR457354,
BC001085
Ensembl:
ENSG00000186283
KO:
hsa:64222
|
| Nucleutide sequences |
EMBL-CDS:
CAH70929.1,
AAH88368.1,
BAB15312.1,
BAH14901.1,
AAH18292.1,
CAC14461.1,
BAG61792.1,
CAG33635.1,
CAC88129.1,
AAH11746.1,
AAH07571.1,
CAC88130.1,
CAC13973.1,
AAH01085.1,
CAH70928.1
Ensembl_TRS:
ENST00000367627,
ENST00000352445
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000335351,
ENSP00000356599
RefSeq:
NP_071766.2
|
| Others |
UniRef100:
UniRef100_Q9H497
UniRef90:
UniRef90_Q9H497
UniRef50:
UniRef50_Q9H497
UniGene:
Hs.584957
CCDS:
CCDS1329.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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