TCF20

Chr 22q13.2

transcription factor 20

Aliases:: AR1, SPBP
MANE:: ENST00000677622.1

OMIM: 603107 ↗NCBI: 6942 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TCF20 · Q9UGU0

v62025-08-01

Predicted Aligned Error matrix for TCF20 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

38.9/ 100

Very low

1,960 residues

Confidence breakdown

Very high(≥ 90)5%
Confident(70–90)3%
Low(50–70)3%
Very low(< 50)90%

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
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

developmental delay with variable intellectual impairment and behavioral abnormalities
0.80
Intellectual disability
0.56
Neurodevelopmental abnormality
0.54
hereditary disease
0.53
Developmental delay with variable intellectual impairment and behavioural abnormalities
0.51
Neurodevelopmental delay
0.46
Global developmental delay
0.46
autism
0.43
Mild intellectual disability
0.43
Generalized hypotonia
0.42

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

Protein function (UniProt)

Transcription factor 20

Transcriptional activator that binds to the regulatory region of MMP3 and thereby controls stromelysin expression. It stimulates the activity of various transcriptional activators such as JUN, SP1, PAX6 and ETS1, suggesting a function as a coactivator