TBX3

Chr 12q24.21

T-box transcription factor 3

Aliases:: TBX3-ISO, XHL
MANE:: ENST00000349155.7

OMIM: 601621 ↗NCBI: 6926 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

TBX3 · O15119

v62025-08-01

Predicted Aligned Error matrix for TBX3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

54.9/ 100

Low

743 residues

Confidence breakdown

Very high(≥ 90)21%
Confident(70–90)5%
Low(50–70)7%
Very low(< 50)67%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Radial dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
VACTERL-like phenotypes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

ulnar-mammary syndrome
0.78
breast carcinoma
0.54
Abnormality of the skeletal system
0.53
breast adenocarcinoma
0.49
hereditary disease
0.48
atrial fibrillation
0.48
prostate carcinoma
0.47
colorectal adenocarcinoma
0.43
polyp of colon
0.42
hypertensive disorder
0.41

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

Protein function (UniProt)

T-box transcription factor TBX3

Transcriptional repressor involved in developmental processes (PubMed:10468588). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes (PubMed:12000749). Probably plays a role in limb pattern formation (PubMed:10468588). Required for mammary placode induction, and maintenance of the mammary buds during development (By similarity). Involved in branching morphogenesis in both developing lungs and adult mammary glands, via negative modulation of target genes; acting redundantly with TBX2 (By similarity). Required, together with TBX2, to maintain cell proliferation in the embryonic lung mesenchyme; perhaps acting downstream of SHH, BMP and TGFbeta signaling (By similarity). Involved in modulating early inner ear development, acting independently of, and also redundantly with, TBX2 in different subregions of the developing ear (By similarity). Acts as a negative regulator of PML function in cellular senescence (PubMed:22002537)