TLR10

Summary

TLR10 (toll like receptor 10, HGNC:15634) is a protein-coding gene on chromosome 4p14, encoding Toll-like receptor 10 (Q9BXR5). Participates in the innate immune response to microbial agents.

The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is most highly expressed in lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene.

Source: NCBI Gene 81793 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 113 total
• MANE Select transcript: NM_030956

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15634
Approved symbol	TLR10
Name	toll like receptor 10
Location	4p14
Locus type	gene with protein product
Status	Approved
Aliases	CD290
Ensembl gene	ENSG00000174123
Ensembl biotype	protein_coding
OMIM	606270
Entrez	81793

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 11 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000308973, ENST00000361424, ENST00000502321, ENST00000506111, ENST00000507953, ENST00000508334, ENST00000613579, ENST00000622002, ENST00000873410, ENST00000873411, ENST00000873412, ENST00000873413

RefSeq mRNA: 5 — MANE Select: NM_030956 NM_001017388, NM_001195106, NM_001195107, NM_001195108, NM_030956

CCDS: CCDS3445

Canonical transcript exons

ENST00000308973 — 4 exons

Exon	Start	End
ENSE00001245823	38775775	38775963
ENSE00001245826	38776110	38776426
ENSE00002070278	38782921	38782990
ENSE00003845057	38772238	38775652

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 89.77.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.9357 / max 217.1074, expressed in 156 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51805	1.5024	150
51804	0.4334	68

Top tissues by expression

241 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lymph node	UBERON:0000029	89.77	gold quality
ileal mucosa	UBERON:0000331	88.80	gold quality
ileum	UBERON:0002116	88.72	silver quality
vermiform appendix	UBERON:0001154	88.21	gold quality
spleen	UBERON:0002106	87.44	gold quality
caecum	UBERON:0001153	79.79	gold quality
blood	UBERON:0000178	78.19	gold quality
granulocyte	CL:0000094	77.64	gold quality
leukocyte	CL:0000738	74.93	gold quality
monocyte	CL:0000576	74.36	gold quality
epithelial cell of pancreas	CL:0000083	74.29	gold quality
epithelium of nasopharynx	UBERON:0001951	73.85	gold quality
nasopharynx	UBERON:0001728	73.84	gold quality
tonsil	UBERON:0002372	73.37	gold quality
bone marrow cell	CL:0002092	71.92	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	71.47	silver quality
superficial temporal artery	UBERON:0001614	71.26	gold quality
rectum	UBERON:0001052	69.77	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	68.45	gold quality
bone marrow	UBERON:0002371	68.22	gold quality
small intestine Peyer’s patch	UBERON:0003454	67.10	gold quality
nasal cavity epithelium	UBERON:0005384	66.06	gold quality
gall bladder	UBERON:0002110	65.99	gold quality
small intestine	UBERON:0002108	64.31	gold quality
pancreatic ductal cell	CL:0002079	64.26	silver quality
bone element	UBERON:0001474	63.14	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	62.39	gold quality
spinal cord	UBERON:0002240	61.13	gold quality
medial globus pallidus	UBERON:0002477	60.23	silver quality
corpus callosum	UBERON:0002336	60.06	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.15
E-MTAB-6386	no	2029.47

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, FOXP3, JUN, NFKB, RXRA, VDR

miRNA regulators (miRDB)

38 targeting TLR10, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-4777-5P	99.33	67.53	1148
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-10B-3P	99.04	66.98	988
HSA-MIR-6814-5P	99.03	66.68	1273
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-4738-3P	98.98	67.98	1846
HSA-MIR-129-1-3P	98.86	68.41	779
HSA-MIR-129-2-3P	98.86	68.41	779

Literature-anchored findings (GeneRIF, showing 40)

• normal and neoplastic human B lymphocytes express a distinct TLR repertoire including TLR9 and TLR10 and expression is increased upon engagement of the antigen receptor complex or TLR9 itself (PMID:12689944)
• TLR10 is a potential asthma candidate gene. TLR10 genetic variation contributes to asthma risk. (PMID:15201134)
• Unlike TLR1 and TLR6, TLR10 is expressed in a highly restricted fashion as a highly N-glycosylated protein, which is detected in B cell lines, B cells from peripheral blood, and plasmacytoid dendritic cells from tonsil. (PMID:15728506)
• The observed multiple associated SNPs at the TLR6-TLR1-TLR10 gene cluster were dependent and suggest the presence of a founder prostate cancer risk variant on this haplotype background. (PMID:15812078)
• We genotyped 19 common (>5%) haplotype-tagging SNPs chosen from the SNPs discovered in a resequencing study spanning TLR6, TLR1, and TLR10 to test for the association between sequence variants cluster and prostate cancer. (PMID:17932345)
• The TLR10 structure is in good agreement with available biochemical data on TLR receptors and is likely to provide a good model for the physiological dimer. (PMID:18332149)
• Human epidermal keratinocytes constitutively express all TLR 1-10 mRNA, which may enable human keratinocytes to respond to a wide range of pathogenic micro-organisms. (PMID:18686608)
• common haplotype in the TLR10-TLR1-TLR6 gene cluster influences prostate cancer risk and clearly supports the need for further investigation of TLR genes in other populations (PMID:18752252)
• IL-13/IL-4 and TLR-10 might be involved in the genetics of preterm births. (PMID:19332998)
• in reproductive tract, expression is restricted to Fallopian tube (PMID:19406482)
• Analysis of chimeric receptors containing the TLR10 extracellular recognition domain indicates that human TLR10 cooperates with TLR2 in sensing of microbes and fungi but possesses a signaling function distinct from that of other TLR2 subfamily members. (PMID:20348427)
• No significant differences are found in the TLR3 and TLR10 genotypes or allele distribution between rheumatoid arthritis patients and control individuals. (PMID:20422193)
• genetic polymorphism association with allergic rhinitis in asthma in a Chinese population (PMID:20815312)
• Pam(3)CSK(4) is the ligand for the hTLR10/2 complex and PamCysPamSK4 activates hTLR10/1 hetero and hTLR10 homodimer. (PMID:20877634)
• Case-control analysis showed that the TLR10 gene single nucleotide polymorphism rs10004195 was associated with immunoglobulin A nephropathy (IgAN) in Korean children. Results suggest that TLR10 gene may be associated with susceptibility to IgAN. (PMID:20953797)
• Quantitative polymerase chain reaction showed significantly higher expression of LEAP-1 (P = 0.002) and TLR-8 (P = 0.023) and TLR-10 (P = 0.014) in viral keratitis and LEAP-2 (P = 0.034) in dry eye, versus controls. (PMID:21499082)
• Our results support association of the TLR10 gene with CD susceptibility. The effect of TLR10 would be independent of NOD2, suggesting different signaling pathways for both genes. (PMID:21716313)
• absence of the common haplotype in the TLR10-TLR1-TLR6 gene cluster increases the risk of developing chronic disease in patients already affected by sarcoidosis. (PMID:22150367)
• genetic variation in TLR10 plays a role in interindividual differences in CD susceptibility and clinical outcome. (PMID:22342453)
• Statistical differences have been found in TLR10 (rs4129009) gene between low and high tumor infiltration stage. (PMID:22504414)
• The results showed that the genetic markers in TLR1, TLR4, TLR5 TLR6, and TLR10 were associated with the occurrence of acute Graft-versus-host disease following hematopoietic stem cell transplantation (PMID:22703024)
• genetic association study in a population in Republic of Korea: Data suggest that SNP in TLR10 (rs11466653; T allele, Met326Thr) is associated with development of papillary thyroid carcinoma with small tumor size (<1 cm). (PMID:23124277)
• The study shows that genetic variation within the TLR10/1/6 locus is the major common genetic factor explaining interindividual variation in TLR1/2-mediated cytokine responses. (PMID:23151486)
• promotes trophoblast apoptosis triggered by gram-positive bacterial components (PMID:23279063)
• Allelic variants in TLR10 gene is associated with bilateral affectation and clinical course of Meniere’s disease. (PMID:23370977)
• CCL20, CCL1, & IL-8 were reduced following TKR10 knockdown. TLR10 silencing increased viability of L. monocytogenes in both HT-29 & THP-1 cells. TLR10 senses pathogenic infection in both intestinal epithelium & macrophages. (PMID:24198280)
• data indicate novel roles for TLR10 in sensing pathogenic infection in both the epithelium and macrophages and have identified L. monocytogenes as a source of ligand for the orphan receptor TLR10. (PMID:24198280)
• Toll-like receptor 10 is involved in induction of innate immune responses to influenza virus infection. (PMID:24567377)
• The results suggest roles for TLR3, TLR10, PLAT (n=2), VEGFA and DENND1B in susceptibility to chronic cavitary pulmonary aspergillosis. (PMID:24712925)
• Genetic variation rs5743565 in TLR1 might be associated with the decreased susceptibility to Graves disease, whlie polymorphisms in TLR6 and TLR10 did not reach the statistical significance. (PMID:25028161)
• TLR10 is a modulatory pattern-recognition receptor with mainly inhibitory properties (PMID:25288745)
• Our results suggest that TLR10 polymorphisms may contribute to the pathogenesis of autoimmune thyroid diseases. (PMID:25295614)
• TLR1 rs4833095 and TLR10 rs10004195 may play crucial roles in H. pylori susceptibility and gastric pathogenesis. (PMID:25687912)
• The correlation between TLR1, TLR6, and TLR10 polymorphisms and the development of atopic dermatitis in the Republic of Bashkortostan has been found. (PMID:25850295)
• single nucleotide polymorphism (SNP) in TLR10 (rs11096957) is associated with risk for Tuberculosis (PMID:25857634)
• genetic variants in TLR10 are associated with protection against complicated skin and skin structure infections (PMID:25895985)
• Study annotated variants at 4p14 as expression quantitative trait loci (eQTL) associated with TLR6/10 and FAM114A1; findings suggest that 4p14 polymorphisms are linked to host immune response to H. pylori infection but not to its acquisition. (PMID:26312625)
• Data indicate that polymorphisms in toll like receptor 10 (TLR10) are not associated with chronic Q fever. (PMID:26364993)
• concluded that TLR-1 rs4833095 and TLR10 rs10004195 confer susceptibility to development of gastroduodenal disease, especially GC in H.pylori disease (PMID:26559190)
• these results demonstrate that TLR10 functions as a broad negative regulator of TLR signaling (PMID:27022193)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
rattus_norvegicus	Tlr10	ENSRNOG00000067138

Paralogs (22): IGFALS (ENSG00000099769), TLR8 (ENSG00000101916), LRRC17 (ENSG00000128606), RXFP2 (ENSG00000133105), CD180 (ENSG00000134061), TLR4 (ENSG00000136869), TLR2 (ENSG00000137462), LRRC32 (ENSG00000137507), LRRC3 (ENSG00000160233), LRRC53 (ENSG00000162621), TLR3 (ENSG00000164342), VASN (ENSG00000168140), RXFP1 (ENSG00000171509), NRROS (ENSG00000174004), TLR1 (ENSG00000174125), TLR6 (ENSG00000174130), LRRC3B (ENSG00000179796), TSKU (ENSG00000182704), TLR5 (ENSG00000187554), TLR7 (ENSG00000196664), LRIT2 (ENSG00000204033), LRRC3C (ENSG00000204913)

Protein

Protein identifiers

Toll-like receptor 10 — Q9BXR5 (reviewed: Q9BXR5)

All UniProt accessions (2): Q9BXR5, D6RHW6

UniProt curated annotations — full annotation on UniProt →

Function. Participates in the innate immune response to microbial agents. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.

Subunit / interactions. Binds MYD88 via their respective TIR domains. Homodimer (Potential).

Subcellular location. Membrane.

Tissue specificity. Highly expressed in spleen, lymph node, thymus, tonsil and at lower levels in lung. Highly expressed in promyelocytic HL-60 cells and in B-cell lines.

Similarity. Belongs to the Toll-like receptor family.

RefSeq proteins (5): NP_001017388, NP_001182035, NP_001182036, NP_001182037, NP_112218* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000157	TIR_dom	Domain
IPR000483	Cys-rich_flank_reg_C	Domain
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR017241	Toll-like_receptor	Family
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR035897	Toll_tir_struct_dom_sf	Homologous_superfamily

Pfam: PF01582, PF13855

UniProt features (67 total): sequence variant 17, repeat 15, helix 12, glycosylation site 9, strand 4, topological domain 2, domain 2, sequence conflict 2, signal peptide 1, chain 1, transmembrane region 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2J67	X-RAY DIFFRACTION	2.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BXR5-F1	83.13	0.48

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (9): 33, 36, 140, 189, 236, 278, 330, 416, 427

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-168142	Toll Like Receptor 10 (TLR10) Cascade
R-HSA-5603037	IRAK4 deficiency (TLR5)
R-HSA-975871	MyD88 cascade initiated on plasma membrane

MSigDB gene sets: 85 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, MODULE_205, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GARY_CD5_TARGETS_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_REGULATION_OF_DEFENSE_RESPONSE

GO Biological Process (7): toll-like receptor signaling pathway (GO:0002224), inflammatory response (GO:0006954), immune response (GO:0006955), innate immune response (GO:0045087), cellular response to bacterial lipopeptide (GO:0071221), immune system process (GO:0002376), signal transduction (GO:0007165)

GO Molecular Function (7): transmembrane signaling receptor activity (GO:0004888), Toll-like receptor 2 binding (GO:0035663), signaling receptor activity (GO:0038023), identical protein binding (GO:0042802), lipopeptide binding (GO:0071723), protein binding (GO:0005515), NAD+ nucleosidase activity, cyclic ADP-ribose generating (GO:0061809)

GO Cellular Component (3): plasma membrane (GO:0005886), membrane (GO:0016020), signaling receptor complex (GO:0043235)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Toll-like Receptor Cascades	1
Diseases associated with the TLR signaling cascade	1
Toll Like Receptor 10 (TLR10) Cascade	1
Toll Like Receptor 5 (TLR5) Cascade	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
pattern recognition receptor signaling pathway	1
defense response	1
immune system process	1
response to stimulus	1
immune response	1
defense response to symbiont	1
response to bacterial lipopeptide	1
cellular response to bacterial lipoprotein	1
biological_process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
signaling receptor activity	1
Toll-like receptor binding	1
molecular transducer activity	1
protein binding	1
lipid binding	1
binding	1
hydrolase activity, hydrolyzing N-glycosyl compounds	1
membrane	1
cell periphery	1
cellular anatomical structure	1
protein-containing complex	1

Protein interactions and networks

STRING

1476 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TLR10	TLR2	O60603	986
TLR10	TLR1	Q15399	978
TLR10	MYD88	P78397	944
TLR10	TLR6	Q9Y2C9	929
TLR10	LY96	Q9Y6Y9	748
TLR10	PFN3	P60673	728
TLR10	PFN4	Q8NHR9	726
TLR10	PFN1	P07737	706
TLR10	TIRAP	P58753	663
TLR10	IL6	P05231	644
TLR10	IL1R1	P14778	605
TLR10	TICAM2	Q86XR7	603
TLR10	TICAM1	Q8IUC6	594
TLR10	IL13	P35225	569
TLR10	NFKB1	P19838	568
TLR10	CCL5	P13501	568

IntAct

25 interactions, top by confidence:

A	B	Type	Score
TLR10	TLR10	psi-mi:“MI:0915”(physical association)	0.570
TLR1	TLR10	psi-mi:“MI:0915”(physical association)	0.570
TLR2	TLR10	psi-mi:“MI:0915”(physical association)	0.570
TLR10	WFS1	psi-mi:“MI:0915”(physical association)	0.560
ATXN3	TLR10	psi-mi:“MI:0915”(physical association)	0.560
CD22	TLR10	psi-mi:“MI:0915”(physical association)	0.400
CD33	TLR10	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC5	TLR10	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC6	TLR10	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC9	TLR10	psi-mi:“MI:0915”(physical association)	0.400
MYD88	TLR10	psi-mi:“MI:0915”(physical association)	0.400
TLR6	TLR10	psi-mi:“MI:0915”(physical association)	0.370
TLR10	TMEM223	psi-mi:“MI:0914”(association)	0.350
TRIM54	TLR10	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (11): TLR10 (Two-hybrid), ECEL1 (Affinity Capture-MS), PIPSL (Affinity Capture-MS), MTHFR (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), FBXO45 (Affinity Capture-MS), FKBP14 (Affinity Capture-MS), MYCBP2 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), TMEM223 (Affinity Capture-MS), TMX1 (Affinity Capture-MS)

ESM2 similar proteins: A0N0X6, A4IIW9, B2LT61, B2LT62, B2LT64, B2LT65, B3Y613, B3Y614, B3Y615, B3Y618, B5T267, O60602, O60603, P16235, P30730, P58681, P58682, Q0GC71, Q0ZUL9, Q15399, Q2PZH4, Q2V897, Q32Q07, Q3URE9, Q50L44, Q5M8M9, Q5RDJ4, Q66HV9, Q689D1, Q6GV17, Q6T752, Q704V6, Q7L985, Q8CBC6, Q8N7C0, Q95LA9, Q95M53, Q96FE5, Q9BXR5, Q9D1T0

Diamond homologs: B2LT61, B2LT62, B2LT64, B2LT65, B3Y613, B3Y614, B3Y615, B3Y618, B5T267, O00206, O60603, P0DUE1, P10810, P34595, P58727, Q0GC71, Q0ZUL9, Q13478, Q15399, Q28680, Q2PZH4, Q2V897, Q2V898, Q61098, Q63691, Q689D1, Q68Y56, Q6GV17, Q6R5N8, Q6T752, Q704V6, Q8SPE8, Q8SPE9, Q95LA9, Q95M53, Q9BXR5, Q9DD78, Q9DGB6, Q9EPQ1, Q9EPW9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 13 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Adaptive Immune System	5	13.6×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
cell adhesion	5	14.4×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

113 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	94
Likely benign	7
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

266 predictions. Top by Δscore:

Variant	Effect	Δscore
4:38782915:TCTTA:T	donor_loss	0.9900
4:38782916:CTTA:C	donor_loss	0.9900
4:38782917:TTA:T	donor_loss	0.9900
4:38782918:TA:T	donor_loss	0.9900
4:38782919:AC:A	donor_gain	0.9900
4:38782919:ACC:A	donor_gain	0.9900
4:38782920:C:CA	donor_loss	0.9900
4:38782920:CC:C	donor_gain	0.9900
4:38782920:CCC:C	donor_gain	0.9900
4:38782920:CCCCA:C	donor_gain	0.9900
4:38782919:A:AC	donor_gain	0.9800
4:38782920:C:CC	donor_gain	0.9800
4:38782919:ACCC:A	donor_gain	0.9400
4:38782920:CCCC:C	donor_gain	0.9400
4:38782634:G:A	donor_gain	0.9300
4:38775551:CAATA:C	acceptor_gain	0.8600
4:38782925:CGG:C	donor_gain	0.8400
4:38775874:T:TG	acceptor_gain	0.8300
4:38782633:TGCC:T	donor_gain	0.8200
4:38776208:C:CC	acceptor_gain	0.7700
4:38775556:C:CC	acceptor_gain	0.7400
4:38776207:A:AC	acceptor_gain	0.7400
4:38782383:G:A	donor_gain	0.7400
4:38775651:CC:C	acceptor_gain	0.6400
4:38775652:CC:C	acceptor_gain	0.6400
4:38782389:A:C	donor_gain	0.6300
4:38782632:TTGC:T	donor_gain	0.6100
4:38775555:A:AC	acceptor_gain	0.5900
4:38782636:CACAG:C	donor_gain	0.5800
4:38775554:TA:T	acceptor_gain	0.5200

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000032708 (4:38776357 G>C), RS10002420 (4:38777592 T>A,C), RS10004195 (4:38783103 T>A), RS1000446235 (4:38776160 T>C), RS10004521 (4:38783393 T>C), RS1000494560 (4:38772289 A>G), RS1000549797 (4:38772039 T>C), RS10005916 (4:38781314 G>A,C,T), RS1000727147 (4:38775812 G>A), RS10012016 (4:38783009 G>A,C,T), RS10012017 (4:38783012 G>T), RS10012859 (4:38777892 G>A,T), RS10013233 (4:38778278 G>A,C,T), RS10013235 (4:38778288 G>A,C,T), RS1001405205 (4:38781487 A>G)

Disease associations

OMIM: gene MIM:606270 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST002014_1	Helicobacter pylori serologic status	1.000000e-18
GCST002083_15	Self-reported allergy	5.000000e-21
GCST002084_3	Allergic sensitization	5.000000e-11
GCST003797_3	Diabetes in response to antihypertensive drug treatment (treatment strategy interaction)	1.000000e-07
GCST005332_2	Systemic sclerosis (anti-topoisomerase-positive)	2.000000e-06
GCST005334_5	Limited cutaneous systemic scleroderma	2.000000e-07
GCST005906_2	Endometriosis or endometrial cancer (pleiotropy)	2.000000e-06
GCST006409_35	Allergic rhinitis	4.000000e-27
GCST007563_4	Allergic disease (asthma, hay fever or eczema)	7.000000e-20
GCST007564_38	Asthma or allergic disease (pleiotropy)	2.000000e-19
GCST007994_24	Asthma (age of onset)	5.000000e-22
GCST007995_17	Asthma (childhood onset)	3.000000e-32
GCST008916_41	Asthma	3.000000e-10
GCST009720_98	Asthma	4.000000e-24
GCST009798_22	Asthma	4.000000e-17
GCST010984_11	Allergic disease (asthma, hay fever and/or eczema) (multivariate analysis)	3.000000e-38
GCST010985_27	Allergic disease (asthma, hay fever and/or eczema) (age of onset)	3.000000e-38

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0005298	allergic sensitization measurement
EFO:0005405	response to antihypertensive drug
EFO:0007766	response to beta blocker
EFO:0007767	response to calcium channel blocker
EFO:0008537	anti-topoisomerase-I-antibody-positive systemic scleroderma
EFO:1001017	limited scleroderma
EFO:0004847	age at onset

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: catalytic receptor — Toll-like receptor family

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
Cadmium	affects cotreatment, decreases expression, increases expression	2
propionaldehyde	increases expression	1
sodium arsenite	increases expression	1
zinc sulfide	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
macrophage stimulatory lipopeptide 2	increases expression	1
(+)-JQ1 compound	increases expression	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	affects methylation, increases expression	1
Vehicle Emissions	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Nickel	decreases expression	1
Selenium	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Vincristine	decreases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	increases expression	1
Lactic Acid	increases expression	1
Particulate Matter	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_Y386	293/hTLR10-HA	Transformed cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.