TBX6

Chr 16p11.2

T-box transcription factor 6

MANE:: ENST00000395224.7

OMIM: 602427 ↗NCBI: 6911 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

TBX6 · O95947

v62025-08-01

Predicted Aligned Error matrix for TBX6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.6/ 100

Low

436 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)6%
Low(50–70)12%
Very low(< 50)46%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial Neural Tube Defects

Disease associations (Open Targets)

spondylocostal dysostosis 5
0.68
autosomal dominant spondylocostal dysostosis
0.62
scoliosis
0.52
hereditary disease
0.45
autosomal recessive spondylocostal dysostosis
0.39
multiple sclerosis
0.31
polyp of colon
0.24
asthma
0.24
Neurodevelopmental abnormality
0.15
type 2 diabetes mellitus
0.09

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

Protein function (UniProt)

T-box transcription factor TBX6

T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity)