UNC93B1

Chr 11q13.2

unc-93B1 regulator of TLR signaling

Aliases:: UNC93, UNC-93B
MANE:: ENST00000227471.7

OMIM: 608204 ↗NCBI: 81622 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

UNC93B1 · Q9H1C4

v62025-08-01

Predicted Aligned Error matrix for UNC93B1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.6/ 100

Confident

597 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)29%
Low(50–70)4%
Very low(< 50)17%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Herpetic encephalitis
0.71
herpes simplex encephalitis
0.37
inborn error of immunity
0.37
type 1 interferonopathy
0.27
Immunodeficiency
0.26
systemic lupus erythematosus
0.21
alcohol drinking
0.15
infection
0.08
acute myeloid leukemia
0.08
X-linked lymphoproliferative disease
0.07

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

Protein function (UniProt)

Protein unc-93 homolog B1

Plays an important role in innate and adaptive immunity by regulating nucleotide-sensing Toll-like receptor (TLR) signaling. Required for the transport of a subset of TLRs (including TLR3, TLR7 and TLR9) from the endoplasmic reticulum to endolysosomes where they can engage pathogen nucleotides and activate signaling cascades. May play a role in autoreactive B-cells removal