TBX19: T-Box Transcription Factor 19
Key regulator of pituitary development and corticotrope differentiation
Gene Information Card
| Symbol | TBX19 |
|---|---|
| Full Name | T-Box Transcription Factor 19 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 9095 ncbi.nlm.nih.gov/gene/9095 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | O60806 |
| OMIM ID | 604614 |
| HGNC ID | 11596 |
| Aliases | TPIT, TBS19 |
Description
TBX19 (T-Box Transcription Factor 19), also known as TPIT, is a member of the T-box family of transcription factors. It plays a critical role in the development and differentiation of pituitary corticotrope cells, which produce adrenocorticotropic hormone (ACTH). TBX19 is essential for the expression of the proopiomelanocortin (POMC) gene and subsequent ACTH synthesis. Mutations in TBX19 cause isolated ACTH deficiency (IAD), a rare autosomal recessive disorder characterized by low cortisol levels and recurrent hypoglycemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Isolated ACTH deficiency (IAD) | Loss-of-function mutations in TBX19 impair POMC transcription, leading to deficient ACTH production and secondary adrenal insufficiency. | OMIM #201400; ClinVar; multiple case reports (e.g., Pulichino et al., 2003, J Clin Invest) |
| Congenital hypopituitarism | TBX19 mutations may contribute to combined pituitary hormone deficiencies in rare cases. | OMIM; limited evidence from case series |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pituitary gland | 12.5 | High |
| Adrenal gland | 0.2 | Not detected |
| Brain (cerebral cortex) | 0.1 | Not detected |
| Testis | 0.1 | Not detected |
| Thyroid | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| AtT-20 (mouse pituitary corticotrope) | N/A | High expression; used as model for TBX19 function |
| HEK293 | 0.1 | Low; not endogenous |
| HeLa | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.253C>T (p.Arg85*) | Nonsense | Rare | Loss of function; truncation of T-box domain |
| c.433C>T (p.Arg145*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.631C>T (p.Arg211Trp) | Missense | Rare | Loss of function; impaired DNA binding |
| c.710G>A (p.Arg237Gln) | Missense | Rare | Loss of function; reduced transactivation |
Mutation functional classification
Loss of Function (LOF)
Majority of TBX19 mutations are loss-of-function, leading to reduced or absent DNA binding and transactivation of POMC, causing isolated ACTH deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported in TBX19.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Pituitary development and corticotrope differentiation
• Proopiomelanocortin (POMC) processing and ACTH synthesis
• T-box transcription factor signaling
Protein Summary
TBX19 (TPIT) is a 446-amino acid T-box transcription factor that binds to T-box elements in the POMC promoter. It is expressed specifically in pituitary corticotropes and is required for POMC transcription and ACTH production. The protein contains a conserved T-box DNA-binding domain (residues 80-260) and a C-terminal transactivation domain. Mutations in the T-box domain disrupt DNA binding, leading to isolated ACTH deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBX19 Knockout HEK293 Cell Line | EDJ-KQ6461 | Human | 9095 | Details Get a Quote |
| TBX19 Knockout HCT 116 Cell Line | EDJ-KQ30545 | Human | 9095 | Details Get a Quote |
| TBX19 Knockout HeLa Cell Line | EDJ-KQ30546 | Human | 9095 | Details Get a Quote |
| TBX19 Knockout A-549 Cell Line | EDJ-KQ63563 | Human | 9095 | Details Get a Quote |
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