Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	81622
Gene name	Unc-93B1 regulator of TLR signaling
Gene symbol	UNC93B1
Synonyms (NCBI Gene)	IIAE1UNC-93BUNC93UNC93BUnc-93B1
Chromosome	11
Chromosome location	11q13.2
Summary	This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficie

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs780094017	C>A,G,T	Risk-factor	Missense variant, coding sequence variant

Show/Hide all (32)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001323	hsa-miR-1-3p	pSILAC	18668040
MIRT018906	hsa-miR-335-5p	Microarray	18185580
MIRT001323	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT030095	hsa-miR-26b-5p	Microarray	19088304
MIRT1475707	hsa-miR-151-5p	CLIP-seq
MIRT1475708	hsa-miR-2277-3p	CLIP-seq
MIRT1475709	hsa-miR-2277-5p	CLIP-seq
MIRT1475710	hsa-miR-615-5p	CLIP-seq
MIRT2143359	hsa-miR-106a	CLIP-seq
MIRT2143360	hsa-miR-106b	CLIP-seq
MIRT2143361	hsa-miR-17	CLIP-seq
MIRT2143362	hsa-miR-19a	CLIP-seq
MIRT2143363	hsa-miR-19b	CLIP-seq
MIRT2143364	hsa-miR-20a	CLIP-seq
MIRT2143365	hsa-miR-20b	CLIP-seq
MIRT2143366	hsa-miR-3186-3p	CLIP-seq
MIRT2143367	hsa-miR-342-3p	CLIP-seq
MIRT2143368	hsa-miR-3689d	CLIP-seq
MIRT2143369	hsa-miR-4266	CLIP-seq
MIRT2143370	hsa-miR-4292	CLIP-seq
MIRT2143371	hsa-miR-4450	CLIP-seq
MIRT2143372	hsa-miR-4667-5p	CLIP-seq
MIRT2143373	hsa-miR-4695-5p	CLIP-seq
MIRT2143374	hsa-miR-4700-5p	CLIP-seq
MIRT2143375	hsa-miR-4725-5p	CLIP-seq
MIRT2143376	hsa-miR-504	CLIP-seq
MIRT2143377	hsa-miR-518a-5p	CLIP-seq
MIRT2143378	hsa-miR-519d	CLIP-seq
MIRT2143379	hsa-miR-520g	CLIP-seq
MIRT2143380	hsa-miR-520h	CLIP-seq
MIRT2143381	hsa-miR-527	CLIP-seq
MIRT2143382	hsa-miR-93	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0000902	Process	Cell morphogenesis	IEA
GO:0002224	Process	Toll-like receptor signaling pathway	IEA
GO:0002224	Process	Toll-like receptor signaling pathway	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002457	Process	T cell antigen processing and presentation	IEA
GO:0005515	Function	Protein binding	IPI	22164301, 30833792, 32296183, 33845483, 33961781
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IDA	21642595
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	18082565, 21642595
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006886	Process	Intracellular protein transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032009	Component	Early phagosome	IEA
GO:0032009	Component	Early phagosome	ISS
GO:0032735	Process	Positive regulation of interleukin-12 production	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	IEA
GO:0034138	Process	Toll-like receptor 3 signaling pathway	IBA
GO:0034138	Process	Toll-like receptor 3 signaling pathway	IEA
GO:0034138	Process	Toll-like receptor 3 signaling pathway	IMP	18082565
GO:0034154	Process	Toll-like receptor 7 signaling pathway	IBA
GO:0034154	Process	Toll-like receptor 7 signaling pathway	IEA
GO:0034154	Process	Toll-like receptor 7 signaling pathway	IMP	19006693
GO:0034162	Process	Toll-like receptor 9 signaling pathway	IBA
GO:0034162	Process	Toll-like receptor 9 signaling pathway	IEA
GO:0034162	Process	Toll-like receptor 9 signaling pathway	IMP	19006693
GO:0034162	Process	Toll-like receptor 9 signaling pathway	ISS
GO:0035325	Function	Toll-like receptor binding	IBA
GO:0035325	Function	Toll-like receptor binding	IEA
GO:0035325	Function	Toll-like receptor binding	IPI	33432245
GO:0045087	Process	Innate immune response	IEA
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0051607	Process	Defense response to virus	IEA

MIM	HGNC	e!Ensembl
608204	13481	ENSG00000110057

Q9H1C4

Protein name

Protein unc-93 homolog B1 (Unc-93B1) (hUNC93B1)

Protein function

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 endolys

PDB

7C76 , 7CYN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05978	UNC-93	115 → 194	Ion channel regulatory protein UNC-93	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in plasmocytoid dendritic cells (at protein level). Highly expressed in antigen-presenting cells. Expressed in heart, and at lower level in kidney. Expressed at low level in other tissues. {ECO:0000269|PubMed:11867227, ECO:00

Sequence

MEAEPPLYPMAGAAGPQGDEDLLGVPDGPEAPLDELVGAYPNYNEEEEERRYYRRKRLGV
LKNVLAASAGGMLTYGVYLGLLQMQLILHYDETYREVKYGNMGLPDIDSKMLMGINVTPI
AALLYTPVLIRFFGTKWMMFLAVGIYALFVSTNYWERYYTLVPSAVALGMAIVPLWASMG
NYITRMAQKYHEYSHYKEQDGQGMKQRPPRGSHAPYLLVFQAIFYSFFHLSFACAQLPMI
YFLNHYLYDLNHTLYNVQSCGTNSHGILSGFNKTVLRTLPRSGNLIVVESVLMAVAFLAM
LLVLGLCGAAYRPTEEIDLRSVGWGNIFQLPFKHVRDYRLRHLVPFFIYSGFEVLFACTG
IALGYGVCSVGLERLAYLLVAYSLGASAASLLGLLGLWLPRPVPLVAGAGVHLLLTFILF
FWAPVPRVLQHSWILYVAAALWGVGSALNKTGLSTLLGILYEDKERQDFIFTIYHWWQAV
AIFTVYLGSSLHMKAKLAVLLVTLVAAAVSYLRMEQKLRRGVAPRQPRIPRPQHKVRGYR
YLEEDNSDESDAEGEHGDGAEEEAPPAGPRPGPEPAGLGRRPCPYEQAQGGDGPEEQ

Sequence length

597

Interactions

View interactions

	Reactome
			Trafficking and processing of endosomal TLR UNC93B1 deficiency - HSE

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Herpes simplex encephalitis, susceptibility to, 1	Pathogenic; Likely pathogenic	rs772974041, rs759883057, rs753436679, rs2495497804, rs1167385983, rs2495478605, rs1462011435	RCV001936981 RCV001981297 RCV001935122 RCV002815127 RCV002858660 RCV003498856 RCV003498975 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BRAIN DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNC93B1-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31546246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34440442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	12381271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12381271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30387134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31355260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31355260	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	LHGDN	16973841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	29768176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	37097753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	12381271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	29852030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	25226513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	28013570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	28013570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	28013570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	28013570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31355260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31355260	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	30429335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	30935694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	25226513		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30935694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	29852030	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	30935694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30429335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30387134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30387134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32827035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

UNC93B1 (unc-93B1 regulator of TLR signaling)