LILRB3
gene geneOn this page
Also known as LIR-3HL9ILT5LIR3CD85aPIRBPIR-B
Summary
LILRB3 (leukocyte immunoglobulin like receptor B3, HGNC:6607) is a protein-coding gene on chromosome 19q13.42, encoding Leukocyte immunoglobulin-like receptor subfamily B member 3 (O75022). May act as receptor for class I MHC antigens.
This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 11025 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 127 total
- MANE Select transcript:
NM_006864
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6607 |
| Approved symbol | LILRB3 |
| Name | leukocyte immunoglobulin like receptor B3 |
| Location | 19q13.42 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LIR-3, HL9, ILT5, LIR3, CD85a, PIRB, PIR-B |
| Ensembl gene | ENSG00000204577 |
| Ensembl biotype | protein_coding |
| OMIM | 604820 |
| Entrez | 11025 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 6 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000245620, ENST00000346401, ENST00000391750, ENST00000414379, ENST00000436504, ENST00000445347, ENST00000460208, ENST00000468668, ENST00000469273, ENST00000861602, ENST00000861603
RefSeq mRNA: 3 — MANE Select: NM_006864
NM_001081450, NM_001320960, NM_006864
CCDS: CCDS33105, CCDS46175
Canonical transcript exons
ENST00000445347 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001509644 | 54216278 | 54217239 |
| ENSE00001594089 | 54222943 | 54223007 |
| ENSE00002475389 | 54221828 | 54222130 |
| ENSE00002519447 | 54222747 | 54222782 |
| ENSE00003462434 | 54222278 | 54222562 |
| ENSE00003463275 | 54220528 | 54220830 |
| ENSE00003473961 | 54220155 | 54220205 |
| ENSE00003485026 | 54218763 | 54218838 |
| ENSE00003540500 | 54219129 | 54219245 |
| ENSE00003541022 | 54218361 | 54218413 |
| ENSE00003576880 | 54218645 | 54218682 |
| ENSE00003580371 | 54217319 | 54217474 |
| ENSE00003650808 | 54221083 | 54221379 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 99.19.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1978 / max 18.2486, expressed in 105 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 182614 | 3.6357 | 273 |
| 182615 | 0.1978 | 105 |
Top tissues by expression
133 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 99.19 | gold quality |
| granulocyte | CL:0000094 | 97.55 | gold quality |
| leukocyte | CL:0000738 | 97.36 | gold quality |
| monocyte | CL:0000576 | 97.35 | gold quality |
| spleen | UBERON:0002106 | 96.86 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.08 | gold quality |
| vermiform appendix | UBERON:0001154 | 92.47 | gold quality |
| right lung | UBERON:0002167 | 92.37 | gold quality |
| bone marrow | UBERON:0002371 | 91.29 | gold quality |
| bone marrow cell | CL:0002092 | 89.92 | gold quality |
| lung | UBERON:0002048 | 88.89 | gold quality |
| omental fat pad | UBERON:0010414 | 87.75 | gold quality |
| right coronary artery | UBERON:0001625 | 85.73 | gold quality |
| right lobe of liver | UBERON:0001114 | 85.36 | gold quality |
| adipose tissue | UBERON:0001013 | 84.97 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 83.90 | gold quality |
| right adrenal gland | UBERON:0001233 | 83.76 | gold quality |
| left adrenal gland | UBERON:0001234 | 83.29 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 83.26 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 82.87 | gold quality |
| left uterine tube | UBERON:0001303 | 82.26 | gold quality |
| gall bladder | UBERON:0002110 | 81.70 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.68 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 81.58 | gold quality |
| liver | UBERON:0002107 | 81.42 | gold quality |
| apex of heart | UBERON:0002098 | 81.33 | gold quality |
| placenta | UBERON:0001987 | 80.47 | gold quality |
| left coronary artery | UBERON:0001626 | 80.31 | gold quality |
| ascending aorta | UBERON:0001496 | 80.02 | gold quality |
| thoracic aorta | UBERON:0001515 | 79.93 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.56 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): RUNX3, SPI1
miRNA regulators (miRDB)
24 targeting LILRB3, 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-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-7107-3P | 99.93 | 66.73 | 627 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-1303 | 99.65 | 69.77 | 1662 |
| HSA-MIR-103A-1-5P | 99.39 | 67.78 | 1545 |
| HSA-MIR-103A-2-5P | 99.39 | 67.72 | 1577 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-4279 | 99.19 | 66.70 | 2437 |
| HSA-MIR-8077 | 99.17 | 66.67 | 862 |
| HSA-MIR-6071 | 99.16 | 67.77 | 1780 |
| HSA-MIR-367-5P | 98.84 | 67.18 | 902 |
| HSA-MIR-382-3P | 98.83 | 67.10 | 1074 |
| HSA-MIR-581 | 98.39 | 67.42 | 835 |
| HSA-MIR-1304-3P | 98.29 | 66.44 | 1207 |
| HSA-MIR-6773-3P | 98.17 | 65.51 | 1213 |
| HSA-MIR-122-5P | 97.23 | 64.92 | 1024 |
| HSA-MIR-4445-5P | 97.21 | 66.16 | 832 |
| HSA-MIR-5702 | 96.68 | 68.21 | 958 |
| HSA-MIR-8081 | 96.42 | 67.75 | 738 |
Literature-anchored findings (GeneRIF, showing 16)
- Coligation of LIR3 to LIR7 or to FcepsilonRI by means of a second monoclonal antibody significantly inhibited net histamine release, cysLT production, and IL-4 generation. LIR3 is counter-regulatory for both adaptive and innate receptors suggests. (PMID:15242876)
- Progenitor mast cells expressed cell surface inhibitory LILRB3. Mature cord-blood-derived mast cells had detectable mRNA encoding multiple LILRs, none were expressed on the cell surface. (PMID:17998301)
- LILRB3 is expressed on cultured osteoclast precursor cells derived from peripheral blood monocytes and plays a regulatory role in the development of osteoclasts. (PMID:18802077)
- Blockade of LILRB1 and LILRB3 receptors by monoclonal antibodies or short interfering RNA (siRNA) abrogated the specific antigen-presenting properties of dendritic cells, implying an important regulatory role of these molecules. (PMID:20631139)
- RPS9/LILRB3 (rs11666543) was associated with Takayasu arteritis. (PMID:25604533)
- Glatiramer Acetate Enhances Myeloid-Derived Suppressor Cell Function via Recognition of Paired Ig-like Receptor B. (PMID:30068593)
- Together, this study identified ILT5 as an immunosuppressive regulator during sepsis, which may provide potential therapeutic strategy for sepsis. (PMID:31250008)
- The Orphan Immune Receptor LILRB3 Modulates Fc Receptor-Mediated Functions of Neutrophils. (PMID:31915259)
- LILRB3 (ILT5) is a myeloid cell checkpoint that elicits profound immunomodulation. (PMID:32870822)
- Characterization of LILRB3 and LILRA6 allelic variants in the Japanese population. (PMID:33526815)
- KLRD1, FOSL2 and LILRB3 as potential biomarkers for plaques progression in acute myocardial infarction and stable coronary artery disease. (PMID:34271875)
- Epithelial cells remove precancerous cells by cell competition via MHC class I-LILRB3 interaction. (PMID:34686865)
- LILRB3 supports acute myeloid leukemia development and regulates T-cell antitumor immune responses through the TRAF2-cFLIP-NF-kappaB signaling axis. (PMID:35122056)
- Distinct frequency patterns of LILRB3 and LILRA6 allelic variants in Europeans. (PMID:36449053)
- LilrB3 is a putative cell surface receptor of APOE4. (PMID:36588123)
- Identification of the hybrid gene LILRB5-3 by long-read sequencing and implication of its novel signaling function. (PMID:38807600)
Cross-species orthologs
15 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Lilra6 | ENSMUSG00000030427 |
| mus_musculus | Pirb | ENSMUSG00000058818 |
| mus_musculus | Lilra5 | ENSMUSG00000070873 |
| mus_musculus | Pira12 | ENSMUSG00000074417 |
| mus_musculus | Pira13 | ENSMUSG00000074419 |
| mus_musculus | Pira1 | ENSMUSG00000081665 |
| mus_musculus | Pira2 | ENSMUSG00000089942 |
| rattus_norvegicus | Lilra5 | ENSRNOG00000027808 |
| rattus_norvegicus | Lilrb3 | ENSRNOG00000046683 |
| rattus_norvegicus | Lilrb2 | ENSRNOG00000054954 |
| rattus_norvegicus | Lilrc2 | ENSRNOG00000058087 |
| rattus_norvegicus | Pirb | ENSRNOG00000058422 |
| rattus_norvegicus | LOC134485274 | ENSRNOG00000062907 |
| rattus_norvegicus | ENSRNOG00000067708 | |
| rattus_norvegicus | ENSRNOG00000069029 |
Paralogs (25): GP6 (ENSG00000088053), LILRB1 (ENSG00000104972), LILRA1 (ENSG00000104974), LILRB5 (ENSG00000105609), A1BG (ENSG00000121410), KIR2DL1 (ENSG00000125498), LILRB2 (ENSG00000131042), IGSF1 (ENSG00000147255), LAIR2 (ENSG00000167618), KIR3DL1 (ENSG00000167633), OSCAR (ENSG00000170909), FCAR (ENSG00000186431), LILRB4 (ENSG00000186818), LILRA5 (ENSG00000187116), KIR2DL4 (ENSG00000189013), VSTM1 (ENSG00000189068), NCR1 (ENSG00000189430), KIR2DS4 (ENSG00000221957), LILRA4 (ENSG00000239961), LILRA2 (ENSG00000239998), KIR3DL2 (ENSG00000240403), KIR3DL3 (ENSG00000242019), KIR2DL3 (ENSG00000243772), LILRA6 (ENSG00000244482), TARM1 (ENSG00000248385)
Protein
Protein identifiers
Leukocyte immunoglobulin-like receptor subfamily B member 3 — O75022 (reviewed: O75022)
Alternative names: CD85 antigen-like family member A, Immunoglobulin-like transcript 5, Monocyte inhibitory receptor HL9
All UniProt accessions (4): C9JWL8, F8W6G6, F8WD89, O75022
UniProt curated annotations — full annotation on UniProt →
Function. May act as receptor for class I MHC antigens. Becomes activated upon coligation of LILRB3 and immune receptors, such as FCGR2B and the B-cell receptor. Down-regulates antigen-induced B-cell activation by recruiting phosphatases to its immunoreceptor tyrosine-based inhibitor motifs (ITIM).
Subunit / interactions. Interacts with LYN, PTPN6/SHP-1 and PTPN11/SHP-2.
Subcellular location. Cell membrane.
Tissue specificity. Detected in monocytes and B-cells.
Post-translational modifications. Phosphorylated on tyrosine residues by LYN. Phosphorylation at Tyr-595 and Tyr-625 is important for interaction with PTPN6/SHP-1 and PTPN11/SHP-2.
Domain organisation. Contains 3 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases, including PTPN6/SHP-1, resulting in the dephosphorylation of the downstream protein kinases SYK and BTK.
Miscellaneous. Belongs to the leukocyte receptor cluster (LRC) present on 19q13.4.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75022-1 | 1 | yes |
| O75022-2 | 2 | |
| O75022-3 | 3 |
RefSeq proteins (3): NP_001074919, NP_001307889, NP_006855* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013151 | Immunoglobulin_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050412 | Ig-like_Receptors_ImmuneReg | Family |
Pfam: PF00047, PF13895
UniProt features (61 total): sequence conflict 17, sequence variant 13, compositionally biased region 5, glycosylation site 4, disulfide bond 4, domain 4, short sequence motif 3, region of interest 2, modified residue 2, topological domain 2, splice variant 2, signal peptide 1, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8YOT | ELECTRON MICROSCOPY | 2.48 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75022-F1 | 74.31 | 0.52 |
Antibody-complex structures (SAbDab): 1 — 8YOT
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 595, 625
Disulfide bonds (4): 49–98, 144–196, 245–296, 345–396
Glycosylation sites (4): 139, 280, 301, 340
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 176 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOCC_SECRETORY_GRANULE, MODULE_45, MODULE_64, GOZGIT_ESR1_TARGETS_DN, MODULE_478, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, GOBP_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION, GOBP_REGULATION_OF_IMMUNE_RESPONSE
GO Biological Process (7): adaptive immune response (GO:0002250), immune response-regulating signaling pathway (GO:0002764), defense response (GO:0006952), cell surface receptor signaling pathway (GO:0007166), cytokine-mediated signaling pathway (GO:0019221), negative regulation of osteoclast differentiation (GO:0045671), immune system process (GO:0002376)
GO Molecular Function (4): transmembrane signaling receptor activity (GO:0004888), inhibitory MHC class I receptor activity (GO:0032396), signaling receptor activity (GO:0038023), protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), secretory granule membrane (GO:0030667), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Immune System | 2 |
| Adaptive Immune System | 1 |
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| signal transduction | 2 |
| immune response | 1 |
| regulation of immune response | 1 |
| response to stress | 1 |
| cell surface receptor signaling pathway | 1 |
| cellular response to cytokine stimulus | 1 |
| negative regulation of myeloid leukocyte differentiation | 1 |
| osteoclast differentiation | 1 |
| regulation of osteoclast differentiation | 1 |
| biological_process | 1 |
| signaling receptor activity | 1 |
| MHC class I receptor activity | 1 |
| molecular transducer activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| secretory granule | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1296 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LILRB3 | CD300C | Q08708 | 790 |
| LILRB3 | CD22 | P20273 | 659 |
| LILRB3 | RNASE2 | P10153 | 622 |
| LILRB3 | HLA-F | P30511 | 532 |
| LILRB3 | CD79A | P11912 | 527 |
| LILRB3 | BLNK | Q8WV28 | 510 |
| LILRB3 | TYROBP | O43914 | 507 |
| LILRB3 | HLA-E | P13747 | 470 |
| LILRB3 | CFLAR | O15519 | 433 |
| LILRB3 | FCAR | P24071 | 430 |
| LILRB3 | DNTT | P04053 | 427 |
| LILRB3 | THBD | P07204 | 424 |
| LILRB3 | EBF1 | Q9UH73 | 423 |
| LILRB3 | XBP1 | P17861 | 421 |
| LILRB3 | RPS9 | P46781 | 410 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LILRB3 | KRT18 | psi-mi:“MI:0914”(association) | 0.430 |
| LILRB3 | KRT8 | psi-mi:“MI:0914”(association) | 0.430 |
| LILRB3 | PTPN6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PTPN6 | LILRB3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| BTNL8 | LILRB3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LILRB3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| MOG | LILRB3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LILRB3 | MPZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| LILRB3 | TNFRSF12A | psi-mi:“MI:0915”(physical association) | 0.400 |
| LILRB3 | psi-mi:“MI:0915”(physical association) | 0.000 |
ESM2 similar proteins: A0A0K2S4Q6, A2A7V7, A6NI73, A8K4G0, O43699, O75019, O75022, O75023, O75871, O76036, P0C191, P20138, P24071, P40198, P59901, P80943, Q08708, Q13410, Q28110, Q3U497, Q496F6, Q64JA4, Q6GTX8, Q6ISS4, Q6PI73, Q6UXZ3, Q7TSN2, Q863H2, Q8C567, Q8K249, Q8MJZ2, Q8MJZ7, Q8N149, Q8N423, Q8N6C8, Q8NHJ6, Q8NHL6, Q8VBT3, Q8VCH2, Q95JB9
Diamond homologs: A0A0G2KBC9, A6NI73, C0HJX2, C0HJX3, D3ZQX2, O75019, O75022, O75023, O76036, P0C191, P24071, P43626, P43629, P43630, P59901, P83556, P97484, Q14943, Q14954, Q61450, Q64281, Q6GTX8, Q6ISS4, Q6PI73, Q7TQA1, Q863H2, Q8C567, Q8IYS5, Q8MJZ2, Q8MJZ7, Q8N109, Q8N149, Q8N423, Q8N6C8, Q8N743, Q8NHJ6, Q8NHK3, Q8NHL6, Q95JB9, Q9HCN6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
127 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 96 |
| Likely benign | 15 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2187 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:54217236:CAGC:C | acceptor_gain | 1.0000 |
| 19:54217237:AGCCT:A | acceptor_loss | 1.0000 |
| 19:54217238:GC:G | acceptor_gain | 1.0000 |
| 19:54217238:GCCTG:G | acceptor_loss | 1.0000 |
| 19:54217239:CC:C | acceptor_gain | 1.0000 |
| 19:54217239:CCTG:C | acceptor_loss | 1.0000 |
| 19:54217240:C:CC | acceptor_gain | 1.0000 |
| 19:54217240:CTGCA:C | acceptor_loss | 1.0000 |
| 19:54217314:CTCA:C | donor_loss | 1.0000 |
| 19:54217315:TCAC:T | donor_loss | 1.0000 |
| 19:54217316:CACCT:C | donor_loss | 1.0000 |
| 19:54217317:A:AC | donor_gain | 1.0000 |
| 19:54217317:A:AT | donor_loss | 1.0000 |
| 19:54217318:C:CC | donor_gain | 1.0000 |
| 19:54217318:CCT:C | donor_gain | 1.0000 |
| 19:54217318:CCTCA:C | donor_gain | 1.0000 |
| 19:54217344:TCC:T | donor_gain | 1.0000 |
| 19:54217473:CTCTG:C | acceptor_gain | 1.0000 |
| 19:54217474:TCTG:T | acceptor_loss | 1.0000 |
| 19:54217475:CTG:C | acceptor_gain | 1.0000 |
| 19:54217476:TG:T | acceptor_gain | 1.0000 |
| 19:54217477:GCTG:G | acceptor_loss | 1.0000 |
| 19:54217478:C:CC | acceptor_gain | 1.0000 |
| 19:54217479:T:A | acceptor_loss | 1.0000 |
| 19:54218636:T:TA | donor_gain | 1.0000 |
| 19:54218643:A:AC | donor_gain | 1.0000 |
| 19:54218644:C:CC | donor_gain | 1.0000 |
| 19:54218764:T:TA | donor_gain | 1.0000 |
| 19:54219125:TCAC:T | donor_loss | 1.0000 |
| 19:54219126:CACC:C | donor_loss | 1.0000 |
AlphaMissense
1012 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000122357 (19:54217595 C>A,T), RS1000270962 (19:54219632 C>T), RS1000860231 (19:54215812 C>G), RS1001012017 (19:54218618 C>G), RS1002063044 (19:54218938 A>G), RS1002066934 (19:54217723 C>T), RS1002264870 (19:54216894 T>A,C,G), RS1002658153 (19:54218881 A>C), RS1002722103 (19:54216755 C>T), RS1003015521 (19:54216958 C>G,T), RS1004965931 (19:54215907 C>T), RS1005191721 (19:54217862 C>T), RS1005710436 (19:54217651 C>T), RS1006044366 (19:54216498 G>T), RS1006104722 (19:54216315 T>C)
Disease associations
OMIM: gene MIM:604820 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006575_26 | Takayasu arteritis | 2.000000e-08 |
| GCST006575_50 | Takayasu arteritis | 4.000000e-08 |
| GCST008362_34 | Birth weight | 1.000000e-11 |
| GCST90002393_673 | Monocyte count | 3.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004344 | birth weight |
| EFO:0005091 | monocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Methotrexate | decreases expression | 2 |
| GSK-J4 | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| azoxystrobin | decreases expression | 1 |
| chloropicrin | increases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | decreases expression | 1 |
| pyrimidifen | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Nickel | increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | decreases expression, increases methylation | 1 |
| Zidovudine | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 1 spontaneously immortalized cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E6R1 | Genomeditech CHO-K1 H_LILRB3(ILT5) | Spontaneously immortalized cell line | Female |
| CVCL_E6UF | Genomeditech HEK-293 H_LILRB3(ILT5) | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.