UNC93B1 (unc-93 homolog B1, TLR signaling regulator)

2015-03-01  

Identity

HGNC
LOCATION
11q13.2
LOCUSID
ALIAS
IIAE1,UNC93,UNC93B,Unc-93B1
FUSION GENES

Other Information

Locus ID:

NCBI: 81622
MIM: 608204
HGNC: 13481
Ensembl: ENSG00000110057

Variants:

dbSNP: 81622
ClinVar: 81622
TCGA: ENSG00000110057
COSMIC: UNC93B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110057ENST00000227471Q9H1C4
ENSG00000110057ENST00000524455E9PR93
ENSG00000110057ENST00000528423E9PNE5

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Trafficking and processing of endosomal TLRREACTOMER-HSA-1679131

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
382070552024UNC93B1 variants underlie TLR7-dependent autoimmunity.5
388311042024Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus.1
388695002024Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.0
382070552024UNC93B1 variants underlie TLR7-dependent autoimmunity.5
388311042024Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus.1
388695002024Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.0
355777592022UNC93B1 attenuates the cGAS-STING signaling pathway by targeting STING for autophagy-lysosome degradation.18
355777592022UNC93B1 attenuates the cGAS-STING signaling pathway by targeting STING for autophagy-lysosome degradation.18
334322452021Cryo-EM structures of Toll-like receptors in complex with UNC93B1.35
336278332021Donor UNC-93 Homolog B1 genetic polymorphism predicts survival outcomes after unrelated bone marrow transplantation.4
338379562021UNC93B1 curbs cytosolic DNA signaling by promoting STING degradation.7
342238972021Dynamic control of nucleic-acid-sensing Toll-like receptors by the endosomal compartment.2
344404422021Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus.0
334322452021Cryo-EM structures of Toll-like receptors in complex with UNC93B1.35
336278332021Donor UNC-93 Homolog B1 genetic polymorphism predicts survival outcomes after unrelated bone marrow transplantation.4

Citation

Dessen P

UNC93B1 (unc-93 homolog B1, TLR signaling regulator)

Atlas Genet Cytogenet Oncol Haematol. 2015-03-01

Online version: http://atlasgeneticsoncology.org/gene/55645/unc93b1-(unc-93-homolog-b1-tlr-signaling-regulator)