SOX4

Chr 6p22.3

SRY-box transcription factor 4

MANE:: ENST00000244745.4

OMIM: 184430 ↗NCBI: 6659 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SOX4 · Q06945

v62025-08-01

Predicted Aligned Error matrix for SOX4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

53.2/ 100

Low

474 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)2%
Low(50–70)17%
Very low(< 50)65%

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, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations

Disease associations (Open Targets)

Coffin-Siris syndrome
0.71
neurodegenerative disease
0.50
Intellectual disability
0.47
urinary bladder cancer
0.43
prostate carcinoma
0.39
endometrial carcinoma
0.38
Global developmental delay
0.37
Growth delay
0.37
Clinodactyly of the 5th finger
0.37
syndromic intellectual disability
0.37

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

Protein function (UniProt)

Transcription factor SOX-4

Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif (PubMed:30661772). Required for IL17A-producing Vgamma2-positive gamma-delta T-cell maturation and development, via binding to regulator loci of RORC to modulate expression (By similarity). Involved in skeletal myoblast differentiation by promoting gene expression of CALD1 (PubMed:26291311)