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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
UNC93B1
unc-93B1 regulator of TLR signaling
Chromosome 11 Β· 11q13.2
NCBI Gene: 81622Ensembl: ENSG00000110057.10HGNC: HGNC:13481UniProt: Q9H1C4
60PubMed Papers
21Diseases
0Drugs
14Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingendosomeendoplasmic reticulumToll-like receptor bindingHerpetic encephalitisherpes simplex encephalitisinborn error of immunitytype 1 interferonopathy
✦AI Summary

UNC93B1 is a transmembrane protein that serves as a critical regulator of nucleic acid-sensing Toll-like receptor (TLR) signaling, particularly TLRs 3, 7, 8, and 9 1. The protein facilitates the transport of these TLRs from the endoplasmic reticulum to endolysosomes, where they can engage pathogen nucleotides and activate immune signaling cascades 1. UNC93B1 physically associates with TLR8 and is essential for TLR8-mediated signaling, with different modes of regulation for each TLR subtype 1. Beyond TLR regulation, UNC93B1 also attenuates the cGAS-STING signaling pathway by targeting STING for autophagy-lysosome degradation 2. Clinically, UNC93B1 variants are associated with monogenic autoimmune diseases. Multiple studies have identified gain-of-function mutations causing systemic lupus erythematosus and chilblain lupus through enhanced TLR7/8 signaling 345. These mutations lead to hyperactive TLR7/8 responses, increased type I interferon production, and constitutive inflammatory signaling 4. The protein's role in controlling TLR7 turnover through interaction with the BORC complex and Arl8b is crucial for preventing pathological autoimmune responses 6. UNC93B1 dysfunction represents a key mechanism underlying TLR7-dependent autoimmunity in humans.

Sources cited
1
UNC93B1 physically associates with TLR8 and regulates TLR signaling, with different modes of regulation for each TLR
PMID: 22164301
2
UNC93B1 attenuates cGAS-STING signaling by targeting STING for autophagy-lysosome degradation
PMID: 35577759
3
UNC93B1 gain-of-function mutations cause systemic lupus erythematosus and chilblain lupus through enhanced TLR7/8 signaling
PMID: 38869500
4
UNC93B1 variants cause early-onset SLE through TLR7 hyperactivation and constitutive type I interferon signaling
PMID: 38207055
5
UNC93B1 variants predispose to childhood-onset systemic lupus erythematosus with exaggerated TLR7/8 responses
PMID: 38831104
6
UNC93B1 controls TLR7 turnover through interaction with BORC complex and Arl8b, preventing pathological autoimmune responses
PMID: 38207015
Disease Associationsβ“˜21
Herpetic encephalitisOpen Targets
0.72Strong
herpes simplex encephalitisOpen Targets
0.37Weak
inborn error of immunityOpen Targets
0.37Weak
type 1 interferonopathyOpen Targets
0.27Weak
ImmunodeficiencyOpen Targets
0.26Weak
systemic lupus erythematosusOpen Targets
0.20Weak
alcohol drinkingOpen Targets
0.11Weak
acute myeloid leukemiaOpen Targets
0.08Suggestive
X-linked lymphoproliferative diseaseOpen Targets
0.06Suggestive
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.06Suggestive
autoimmune diseaseOpen Targets
0.06Suggestive
immunodeficiency 89 and autoimmunityOpen Targets
0.05Suggestive
isolated agammaglobulinemiaOpen Targets
0.05Suggestive
hyper-IgE recurrent infection syndrome 5, autosomal recessiveOpen Targets
0.05Suggestive
macrophage activation syndromeOpen Targets
0.05Suggestive
X-linked agammaglobulinemiaOpen Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
Immunodeficiency by defective expression of HLA class 2Open Targets
0.05Suggestive
proteasome-associated autoinflammatory syndrome 6Open Targets
0.05Suggestive
common variable immunodeficiencyOpen Targets
0.05Suggestive
Encephalopathy, acute, infection-induced, 1, herpes-specificUniProt
Pathogenic Variants14
NM_030930.4(UNC93B1):c.800del (p.Ile267fs)Pathogenic
Herpes simplex encephalitis, susceptibility to, 1
β˜…β˜†β˜†β˜†2025β†’ Residue 267
NM_030930.4(UNC93B1):c.1574G>C (p.Arg525Pro)Likely pathogenic
Type 1 interferonopathy
β˜…β˜†β˜†β˜†2025β†’ Residue 525
NM_030930.4(UNC93B1):c.97-1G>ALikely pathogenic
Herpes simplex encephalitis, susceptibility to, 1
β˜…β˜†β˜†β˜†2025
NM_030930.4(UNC93B1):c.1038_1041del (p.Phe346fs)Pathogenic
Herpes simplex encephalitis, susceptibility to, 1
β˜…β˜†β˜†β˜†2024β†’ Residue 346
NM_030930.4(UNC93B1):c.223_224insCC (p.Tyr75fs)Pathogenic
Herpes simplex encephalitis, susceptibility to, 1
β˜…β˜†β˜†β˜†2024β†’ Residue 75
NM_030930.4(UNC93B1):c.1364-2A>GLikely pathogenic
Herpes simplex encephalitis, susceptibility to, 1
β˜…β˜†β˜†β˜†2024
NM_030930.4(UNC93B1):c.781+1G>ALikely pathogenic
Herpes simplex encephalitis, susceptibility to, 1
β˜…β˜†β˜†β˜†2024
NM_030930.4(UNC93B1):c.1345_1363+52delLikely pathogenic
Herpes simplex encephalitis, susceptibility to, 1
β˜…β˜†β˜†β˜†2023
NM_030930.4(UNC93B1):c.668_671del (p.Ile223fs)Pathogenic
Herpes simplex encephalitis, susceptibility to, 1
β˜…β˜†β˜†β˜†2022β†’ Residue 223
NM_030930.4(UNC93B1):c.702C>A (p.Cys234Ter)Pathogenic
Herpes simplex encephalitis, susceptibility to, 1
β˜…β˜†β˜†β˜†2022β†’ Residue 234
NM_030930.4(UNC93B1):c.341_351del (p.Gly114fs)Pathogenic
Herpes simplex encephalitis, susceptibility to, 1
β˜…β˜†β˜†β˜†2022β†’ Residue 114
NM_030930.4(UNC93B1):c.286G>T (p.Glu96Ter)Pathogenic
Herpes simplex encephalitis, susceptibility to, 1
β˜…β˜†β˜†β˜†2021β†’ Residue 96
NM_030930.4(UNC93B1):c.1006C>T (p.Arg336Cys)Likely pathogenic
UNC93B1-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 336
NM_030930.4(UNC93B1):c.1632_1644delinsCAACTCGGAG (p.Glu544_Asp548delinsAspAsnSerGlu)Likely pathogenic
Immunodeficiency
β˜†β˜†β˜†β˜†β†’ Residue 544
View on ClinVar β†—
Related Genes
TLR3Protein interaction100%TLR9Protein interaction97%TLR8Protein interaction96%CNPY3Protein interaction86%MYD88Protein interaction81%TLR7Protein interaction77%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
71%
Liver
36%
Ovary
16%
Heart
13%
Brain
8%
Gene Interaction Network
Click a node to explore
UNC93B1TLR3TLR9TLR8CNPY3MYD88TLR7
PROTEIN STRUCTURE
Preparing viewer…
PDB7C76 Β· 3.40 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.06LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.60–1.06]
RankingsWhere UNC93B1 stands among ~20K protein-coding genes
  • #7,720of 20,598
    Most Researched60
  • #2,524of 5,498
    Most Pathogenic Variants14
  • #10,634of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedUNC93B1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.
PMID: 38869500
J Exp Med Β· 2024
1.00
2
UNC93B1 variants underlie TLR7-dependent autoimmunity.
PMID: 38207055
Sci Immunol Β· 2024
0.90
3
Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus.
PMID: 38831104
Nat Immunol Β· 2024
0.80
4
Cyclical palmitoylation regulates TLR9 signalling and systemic autoimmunity in mice.
PMID: 38169466
Nat Commun Β· 2024
0.70
5
UNC93B1 attenuates the cGAS-STING signaling pathway by targeting STING for autophagy-lysosome degradation.
PMID: 35577759
J Med Virol Β· 2022
0.60