STXBP3

Chr 1p13.3

syntaxin binding protein 3

Aliases:: UNC-18C
MANE:: ENST00000370008.4

OMIM: 608339 ↗NCBI: 6814 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

STXBP3 · O00186

v62025-08-01

Predicted Aligned Error matrix for STXBP3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.4/ 100

Confident

592 residues

Confidence breakdown

Very high(≥ 90)75%
Confident(70–90)16%
Low(50–70)5%
Very low(< 50)4%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Primary immunodeficiency or monogenic inflammatory bowel disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

sensorineural hearing loss disorder
0.42
hypothyroidism
0.26
Genu varum
0.25
Genu valgum
0.25
ovarian carcinoma
0.15
immune dysregulation, autoimmunity, and autoinflammation
0.15
MODY
0.08
type 2 diabetes mellitus
0.08
maturity-onset diabetes of the young type 3
0.07
transient neonatal diabetes mellitus
0.06

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

Protein function (UniProt)

Syntaxin-binding protein 3

Together with STX4 and VAMP2, may play a role in insulin-dependent movement of GLUT4 and in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes