Type | Description |
---|---|
Definition | T-box 19 |
Date | Results | Publications |
---|---|---|
2021-01-30 13:03:00 | [Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency]. | 33423260 |
2020-07-11 12:36:00 | A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation. | 32344415 |
2020-01-25 12:55:00 | A new mutation in the TBX19 gene in a patient with isolated ACTH deficiency. While overgrowth is a known feature of some types of adrenal insufficiencies, including MC2R gene defects and POMC deficiency, it may be a novel feature for TPIT (T-box pituitary restricted transcription factor )deficiency, as in this patient. [review] | 30747411 |
2018-08-11 10:13:00 | TBX19 mRNA expression was significantly increased in tumorous tissues compared to that in non-tumorous tissues, and increased TBX19 mRNA expression was associated with positive lymph node metastasis. | 29199261 |
2012-07-07 11:23:00 | Identification of nine new TPIT mutations in a large series of congenital isolated ACTH-deficiency patients. | 22170728 |
Type | IDs |
---|---|
Synonymous | TBS19, TPIT, dJ747L4.1 |
Gene |
UniProtKB-ID:
TBX19_HUMAN,
B3KRD9_HUMAN
UniprotKB:
O60806,
B3KRD9
UniParc:
UPI0000140BCA,
UPI000003176C
EMBL:
AL009051,
AJ010277,
BC093666,
AK091404,
BC093664
Ensembl:
ENSG00000143178
KO:
hsa:9095
|
Nucleutide sequences |
EMBL-CDS:
CAB37936.1,
AAH93666.1,
AAH93664.1,
BAG52351.1
Ensembl_TRS:
ENST00000367821
|
Protein sequencees |
Ensembl_PRO:
ENSP00000356795
RefSeq:
NP_005140.1
|
Others |
UniRef100:
UniRef100_O60806,
UniRef100_B3KRD9
UniRef90:
UniRef90_A0A3Q2KYP3,
UniRef90_O60806
UniRef50:
UniRef50_F7A489,
UniRef50_O60806
UniGene:
Hs.716656
CCDS:
CCDS1272.1
|
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Refseq |
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