STX5

Chr 11q12.3

syntaxin 5

Aliases:: SED5
MANE:: ENST00000294179.8

OMIM: 603189 ↗NCBI: 6811 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

STX5 · Q13190

v62025-08-01

Predicted Aligned Error matrix for STX5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.4/ 100

Confident

355 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)38%
Low(50–70)26%
Very low(< 50)20%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinitis pigmentosa
0.10
Progressive cone dystrophy
0.09
Cone rod dystrophy
0.09
Leber congenital amaurosis
0.08
Familial exudative vitreoretinopathy
0.08
hepatocellular carcinoma
0.07
Usher syndrome type 1
0.07
Usher syndrome
0.07
age-related macular degeneration
0.07
achromatopsia
0.07

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

Protein function (UniProt)

Syntaxin-5

Mediates endoplasmic reticulum to Golgi transport. Together with p115/USO1 and GM130/GOLGA2, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus