STX1B

Chr 16p11.2

syntaxin 1B

MANE:: ENST00000215095.11

OMIM: 601485 ↗NCBI: 112755 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

STX1B · P61266

v62025-08-01

Predicted Aligned Error matrix for STX1B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.1/ 100

Confident

288 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)35%
Low(50–70)15%
Very low(< 50)2%

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
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Generalized epilepsy with febrile seizures-plus
0.80
generalized epilepsy with febrile seizures plus
0.53
hereditary disease
0.48
neurodevelopmental disorder
0.37
botulism
0.37
Seizure
0.35
generalized epilepsy
0.34
Epileptic encephalopathy
0.27
asthma
0.17
major salivary gland cancer
0.13

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

Protein function (UniProt)

Syntaxin-1B

Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity)