STX4

Chr 16p11.2

syntaxin 4

Aliases:: p35-2
MANE:: ENST00000313843.8

OMIM: 186591 ↗NCBI: 6810 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

STX4 · Q12846

v62025-08-01

Predicted Aligned Error matrix for STX4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.1/ 100

Confident

297 residues

Confidence breakdown

Very high(≥ 90)39%
Confident(70–90)31%
Low(50–70)19%
Very low(< 50)12%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hearing loss, autosomal recessive 123
0.33
neurodegenerative disease
0.31
Sensorineural hearing impairment
0.26
ovarian carcinoma
0.19
hearing loss disorder
0.18
Hearing impairment
0.18
acute myeloid leukemia
0.17
urinary bladder carcinoma
0.15
colorectal carcinoma
0.15
gastric carcinoma
0.15

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

Protein function (UniProt)

Syntaxin-4

Plasma membrane t-SNARE that mediates docking of transport vesicles (By similarity). Necessary for the translocation of SLC2A4 from intracellular vesicles to the plasma membrane (By similarity). In neurons, recruited at neurite tips to membrane domains rich in the phospholipid 1-oleoyl-2-palmitoyl-PC (OPPC) which promotes neurite tip surface expression of the dopamine transporter SLC6A3/DAT by facilitating fusion of SLC6A3-containing transport vesicles with the plasma membrane (By similarity). Together with STXB3 and VAMP2, may also play a role in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes and in docking of synaptic vesicles at presynaptic active zones (By similarity). Required for normal hearing (PubMed:36355422)