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9095 TBX19

9095

TBX19

T-box 19

protein-coding

Homo sapiens

基因描述

Type Description
Definition T-box 19

研究结论

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

名称对应

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

全选

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