TBX19

Chr 1q24.2

T-box transcription factor 19

Aliases:: dj747L4.1, TPIT
MANE:: ENST00000367821.8

OMIM: 604614 ↗NCBI: 9095 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TBX19 · O60806

v62025-08-01

Predicted Aligned Error matrix for TBX19 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.8/ 100

Low

448 residues

Confidence breakdown

Very high(≥ 90)33%
Confident(70–90)7%
Low(50–70)12%
Very low(< 50)48%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital adrenal hypoplasia
BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital isolated adrenocorticotropic hormone deficiency
0.76
hereditary disease
0.41
venous thromboembolism
0.28
duodenitis
0.24
Adrenal insufficiency
0.14
pituitary stalk interruption syndrome
0.12
hepatocellular carcinoma
0.09
prostate carcinoma
0.07
prostate cancer
0.07
Familial prostate cancer
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

T-box transcription factor TBX19

Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters