TBX18

Chr 6q14.3

T-box transcription factor 18

MANE:: ENST00000369663.10

OMIM: 604613 ↗NCBI: 9096 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

TBX18 · O95935

v62025-08-01

Predicted Aligned Error matrix for TBX18 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.4/ 100

Low

607 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)3%
Low(50–70)11%
Very low(< 50)56%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

CAKUT
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

congenital hydronephrosis
0.73
congenital anomaly of kidney and urinary tract
0.59
neurodegenerative disease
0.52
Abnormality of the skeletal system
0.48
osteoarthritis, hip
0.33
vertebral column disorder
0.33
carpal tunnel syndrome
0.31
Umbilical hernia
0.28
Varicose veins
0.27
sleep apnea syndrome
0.26

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

Protein function (UniProt)

T-box transcription factor TBX18

Acts as a transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column. Required for embryonic development of the sino atrial node (SAN) head area