SIGLEC15
gene geneOn this page
Also known as HsT1361
Summary
SIGLEC15 (sialic acid binding Ig like lectin 15, HGNC:27596) is a protein-coding gene on chromosome 18q21.1, encoding Sialic acid-binding Ig-like lectin 15 (Q6ZMC9). Binds sialylated glycoproteins.
Predicted to be involved in regulation of actin cytoskeleton organization; regulation of bone resorption; and regulation of osteoclast development. Predicted to be located in membrane. Predicted to be part of protein-containing complex. Predicted to be active in plasma membrane.
Source: NCBI Gene 284266 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 3 total
- Druggable target: yes
- MANE Select transcript:
NM_213602
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27596 |
| Approved symbol | SIGLEC15 |
| Name | sialic acid binding Ig like lectin 15 |
| Location | 18q21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HsT1361 |
| Ensembl gene | ENSG00000197046 |
| Ensembl biotype | protein_coding |
| OMIM | 618105 |
| Entrez | 284266 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000389474, ENST00000546268, ENST00000587418, ENST00000593178, ENST00000602118
RefSeq mRNA: 1 — MANE Select: NM_213602
NM_213602
CCDS: CCDS32819
Canonical transcript exons
ENST00000389474 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001430412 | 45825675 | 45825780 |
| ENSE00001505963 | 45837513 | 45837896 |
| ENSE00003460888 | 45842106 | 45844094 |
| ENSE00003466670 | 45837029 | 45837088 |
| ENSE00003716178 | 45840211 | 45840241 |
| ENSE00003739305 | 45838718 | 45839095 |
Expression profiles
Bgee: expression breadth ubiquitous, 137 present calls, max score 86.41.
FANTOM5 (CAGE): breadth broad, TPM avg 2.8173 / max 90.9316, expressed in 546 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 170134 | 1.1512 | 244 |
| 170135 | 0.4766 | 180 |
| 170132 | 0.4425 | 166 |
| 170133 | 0.2886 | 130 |
| 170131 | 0.1894 | 100 |
| 170130 | 0.1346 | 56 |
| 170136 | 0.1344 | 83 |
Top tissues by expression
222 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 86.41 | gold quality |
| buccal mucosa cell | CL:0002336 | 84.58 | gold quality |
| periodontal ligament | UBERON:0008266 | 83.96 | gold quality |
| pancreatic ductal cell | CL:0002079 | 82.01 | gold quality |
| tibia | UBERON:0000979 | 80.27 | gold quality |
| jejunum | UBERON:0002115 | 77.50 | gold quality |
| duodenum | UBERON:0002114 | 77.07 | gold quality |
| amniotic fluid | UBERON:0000173 | 76.82 | silver quality |
| diaphragm | UBERON:0001103 | 76.44 | gold quality |
| olfactory bulb | UBERON:0002264 | 75.72 | silver quality |
| mononuclear cell | CL:0000842 | 74.77 | gold quality |
| monocyte | CL:0000576 | 74.73 | gold quality |
| leukocyte | CL:0000738 | 74.46 | gold quality |
| mammary duct | UBERON:0001765 | 74.24 | silver quality |
| hair follicle | UBERON:0002073 | 74.05 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 73.76 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 73.70 | silver quality |
| mucosa of urinary bladder | UBERON:0001259 | 73.65 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 73.10 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 72.44 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 72.21 | silver quality |
| mucosa of paranasal sinus | UBERON:0005030 | 71.04 | gold quality |
| corpus epididymis | UBERON:0004359 | 70.97 | silver quality |
| caput epididymis | UBERON:0004358 | 69.93 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 69.87 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 69.59 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 68.56 | silver quality |
| endothelial cell | CL:0000115 | 68.35 | silver quality |
| vastus lateralis | UBERON:0001379 | 68.19 | gold quality |
| quadriceps femoris | UBERON:0001377 | 68.15 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 16.27 |
| E-MTAB-10042 | yes | 9.55 |
| E-ANND-3 | yes | 3.22 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting SIGLEC15, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-3128 | 99.50 | 67.85 | 1258 |
| HSA-MIR-6739-3P | 99.22 | 68.84 | 1843 |
| HSA-MIR-6510-5P | 99.14 | 66.59 | 1081 |
| HSA-MIR-9851-5P | 97.57 | 67.49 | 1067 |
| HSA-MIR-625-3P | 97.32 | 66.55 | 554 |
| HSA-MIR-6823-3P | 95.45 | 66.14 | 704 |
| HSA-MIR-2114-3P | 95.45 | 66.11 | 579 |
| HSA-MIR-6750-5P | 93.94 | 66.68 | 797 |
| HSA-MIR-6822-5P | 93.94 | 66.34 | 812 |
Literature-anchored findings (GeneRIF, showing 39)
- Siglec-15 recognizes the tumoral sTn antigen and transduces a signal for enhanced TGF-beta secretion in TAMs (PMID:23035012)
- Siglec-15 is a potential target for normalization cancer immunotherapy. (PMID:30833750)
- hemical biology has advanced our understanding of the nature of Siglec-15 ligands, but the exact nature of Siglec-15 ligand depends on the biological context, leaving plenty of room for further exploration (PMID:31900164)
- The diverse functions of Siglec-15 in bone remodeling and antitumor responses. (PMID:32112821)
- Siglec-15 recognition of sialoglycans on tumor cell lines can occur independently of sialyl Tn antigen expression. (PMID:32501471)
- The significance of Siglec-15 expression in resectable non-small cell lung cancer. (PMID:32749846)
- LINC00973 is involved in cancer immune suppression through positive regulation of Siglec-15 in clear-cell renal cell carcinoma. (PMID:32780490)
- N-glycosylation of Siglec-15 decreases its lysosome-dependent degradation and promotes its transportation to the cell membrane. (PMID:32921411)
- Expression signature, prognosis value, and immune characteristics of Siglec-15 identified by pan-cancer analysis. (PMID:32939323)
- Siglec-15 on Osteoclasts Is Crucial for Bone Erosion in Serum-Transfer Arthritis. (PMID:33020147)
- Sialic acid-binding immunoglobulin-like lectin-15 expression on peritumoral macrophages is a favorable prognostic factor for primary central nervous system lymphoma patients. (PMID:33441719)
- Siglec15 shapes a non-inflamed tumor microenvironment and predicts the molecular subtype in bladder cancer. (PMID:33537076)
- Immunopositivity for Siglec-15 in gastric cancer and its association with clinical and pathological parameters. (PMID:33666065)
- Sialic acid-binding immunoglobulin-like lectin (Sigelac)-15 is a rapidly internalised cell-surface antigen expressed by acute myeloid leukaemia cells. (PMID:33951750)
- Siglec-15 promotes the migration of liver cancer cells by repressing lysosomal degradation of CD44. (PMID:34328657)
- Siglec-15 promotes progression of clear renal cell carcinoma. (PMID:34561324)
- SIGLEC15 amplifies immunosuppressive properties of tumor-associated macrophages in pancreatic cancer. (PMID:35077803)
- Analysis of a novel immune checkpoint, Siglec-15, in pancreatic ductal adenocarcinoma. (PMID:35083884)
- Identification and characterization of three Siglec15-related immune and prognostic subtypes of breast-invasive cancer. (PMID:35151947)
- Long Noncoding RNA TUG1 Inhibits Tumor Progression through Regulating Siglec-15-Related Anti-Immune Activity in Hepatocellular Carcinoma. (PMID:35237695)
- Knocking down Siglec-15 in osteosarcoma cells inhibits proliferation while promoting apoptosis and pyroptosis by targeting the Siglec-15/STAT3/Bcl-2 pathway. (PMID:35398779)
- Prognostic value of PD-L1 and Siglec-15 expression in patients with nasopharyngeal carcinoma. (PMID:35729260)
- Siglec-15 Silencing Inhibits Cell Proliferation and Promotes Cell Apoptosis by Inhibiting STAT1/STAT3 Signaling in Anaplastic Thyroid Carcinoma. (PMID:35769818)
- Unveiling the molecular features, relevant immune and clinical characteristics of SIGLEC15 in thyroid cancer. (PMID:36159823)
- Siglec-15 as multifunctional molecule involved in osteoclast differentiation, cancer immunity and microbial infection. (PMID:36265694)
- Siglec-15 as a New Perspective Therapy Target in Human Giant Cell Tumor of Bone. (PMID:36290882)
- Significance of Siglec-15 expression in colorectal cancer: association with advanced disease stage and fewer tumor-infiltrating lymphocytes. (PMID:36424637)
- Expression and function of Siglec-15 in RLPS and its correlation with PD-L1: Bioinformatics Analysis and Clinicopathological Evidence. (PMID:36438917)
- Transcriptional Regulation of Siglec-15 by ETS-1 and ETS-2 in Hepatocellular Carcinoma Cells. (PMID:36614238)
- Siglec15 promotes the migration of thyroid carcinoma cells by enhancing the EGFR protein stability. (PMID:37129515)
- Dynamic change in Siglec-15 expression in peritumoral macrophages confers an immunosuppressive microenvironment and poor outcome in glioma. (PMID:37234161)
- Structural insights into Siglec-15 reveal glycosylation dependency for its interaction with T cells through integrin CD11b. (PMID:37311743)
- Siglec15 is a prognostic indicator and a potential tumor-related macrophage regulator that is involved in the suppressive immunomicroenvironment in gliomas. (PMID:37325664)
- Siglec-15 Promotes Evasion of Adaptive Immunity in B-cell Acute Lymphoblastic Leukemia. (PMID:37465593)
- Non-spatial and spatial heterogeneity revealed a suppressive immune feature of Siglec-15 in lung adenocarcinomas. (PMID:37674198)
- Siglec 15 as a biomarker or a druggable molecule for non-small cell lung cancer. (PMID:37843557)
- Siglec-15 on macrophages suppress the immune microenvironment in patients with PD-L1 negative non-metastasis lung adenocarcinoma. (PMID:38072971)
- Siglec-15 regulates cell proliferation, migration and invasion in bladder cancer. (PMID:38169162)
- SIGLEC15, negatively correlated with PD-L1 in HCC, could induce CD8+ T cell apoptosis to promote immune evasion. (PMID:38988824)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bckdhbl | ENSDARG00000093569 |
| mus_musculus | Siglec15 | ENSMUSG00000091055 |
| rattus_norvegicus | Siglec15 | ENSRNOG00000033588 |
Paralogs (16): CD22 (ENSG00000012124), SIGLEC1 (ENSG00000088827), SIGLEC8 (ENSG00000105366), CD33 (ENSG00000105383), SIGLEC6 (ENSG00000105492), MAG (ENSG00000105695), SIGLEC9 (ENSG00000129450), SIGLEC10 (ENSG00000142512), TMEM25 (ENSG00000149582), SIGLEC11 (ENSG00000161640), SIGLEC16 (ENSG00000161643), SIGLEC7 (ENSG00000168995), SIGLECL1 (ENSG00000179213), SIGLEC14 (ENSG00000254415), SIGLEC12 (ENSG00000254521), SIGLEC5 (ENSG00000268500)
Protein
Protein identifiers
Sialic acid-binding Ig-like lectin 15 — Q6ZMC9 (reviewed: Q6ZMC9)
Alternative names: CD33 antigen-like 3
All UniProt accessions (2): Q6ZMC9, K7EN40
UniProt curated annotations — full annotation on UniProt →
Function. Binds sialylated glycoproteins.
Subunit / interactions. Interacts with TYROBP and HCST.
Subcellular location. Membrane.
Tissue specificity. Expressed in macrophage and/or dendritic cells of spleen and lymph nodes.
Similarity. Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZMC9-1 | 1 | yes |
| Q6ZMC9-2 | 2 |
RefSeq proteins (1): NP_998767* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR042836 | SIG15 | Family |
Pfam: PF07686
UniProt features (35 total): strand 12, disulfide bond 3, helix 3, splice variant 2, mutagenesis site 2, topological domain 2, domain 2, signal peptide 1, chain 1, glycosylation site 1, sequence variant 1, turn 1, transmembrane region 1, region of interest 1, compositionally biased region 1, binding site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7ZOZ | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZMC9-F1 | 78.32 | 0.57 |
Antibody-complex structures (SAbDab): 1 — 7ZOZ
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 143
Disulfide bonds (3): 64–142, 95–104, 187–237
Glycosylation sites (1): 172
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 143 | abrogates glycan-binding. |
| 274 | abrogates interaction with hcst and tyrobp. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-2172127 | DAP12 interactions |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 93 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_MYELOID_CELL_DEVELOPMENT, GOZGIT_ESR1_TARGETS_DN, GOBP_BONE_CELL_DEVELOPMENT, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_REGULATION_OF_HEMOPOIESIS, GOBP_BONE_DEVELOPMENT, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, chr18q12, GOBP_REGULATION_OF_BONE_REMODELING, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_BONE_RESORPTION
GO Biological Process (3): regulation of actin cytoskeleton organization (GO:0032956), regulation of bone resorption (GO:0045124), regulation of osteoclast development (GO:2001204)
GO Molecular Function (0):
GO Cellular Component (3): plasma membrane (GO:0005886), protein-containing complex (GO:0032991), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| actin cytoskeleton organization | 1 |
| regulation of actin filament-based process | 1 |
| regulation of cytoskeleton organization | 1 |
| bone resorption | 1 |
| regulation of bone remodeling | 1 |
| osteoclast development | 1 |
| regulation of hemopoiesis | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular_component | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
644 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SIGLEC15 | TYROBP | O43914 | 932 |
| SIGLEC15 | EEF1A2 | P54266 | 889 |
| SIGLEC15 | SIGLEC1 | Q9BZZ2 | 736 |
| SIGLEC15 | CD22 | P20273 | 727 |
| SIGLEC15 | SIGLEC7 | Q9Y286 | 637 |
| SIGLEC15 | MAG | P20916 | 628 |
| SIGLEC15 | HCST | Q9UBK5 | 616 |
| SIGLEC15 | FCER1G | P30273 | 601 |
| SIGLEC15 | LAG3 | P18627 | 597 |
| SIGLEC15 | SIGLEC11 | Q96RL6 | 595 |
| SIGLEC15 | TIGIT | Q495A1 | 593 |
| SIGLEC15 | SIGLEC8 | Q9NYZ4 | 585 |
| SIGLEC15 | HAVCR2 | Q8TDQ0 | 581 |
| SIGLEC15 | PDCD1LG2 | Q9BQ51 | 576 |
| SIGLEC15 | CD274 | Q9NZQ7 | 572 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SIGLEC15 | CD33 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LILRB2 | SIGLEC15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIGLEC15 | MAG | psi-mi:“MI:0915”(physical association) | 0.400 |
| CD33 | SIGLEC15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIGLEC15 | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIGLEC15 | SIGLEC10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIGLEC15 | SIGLEC14 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIGLEC15 | SIGLEC15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIGLEC9 | SIGLEC15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIGLEC15 | UNC5D | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (1): SIGLEC15 (Proximity Label-MS)
ESM2 similar proteins: A2A9Q0, A5PKD8, A9JSM3, D4A2Q0, E7ERA6, F1SAM7, F2Z333, P0CG25, Q07303, Q0IIA6, Q1RMK9, Q24JP5, Q2MJR0, Q2WF71, Q3MIP1, Q3UV16, Q3ZCQ3, Q504Y2, Q5EBM0, Q5GH56, Q5GH64, Q5GH72, Q5RJI4, Q5SZI1, Q641Q3, Q6IEE6, Q6IQX7, Q6P6N5, Q6UKI2, Q6ZMC9, Q6ZVW7, Q86UD0, Q8IUW3, Q8IZ52, Q8K064, Q8N4K4, Q8NAC3, Q8NBR0, Q8NCL9, Q8NFR9
Diamond homologs: A6NMB1, O15389, O43699, P20138, Q08ET2, Q460M5, Q63994, Q64JA4, Q6ZMC9, Q80TG9, Q80ZE3, Q8N7X8, Q91Y57, Q920G3, Q95LH0, Q96LC7, Q96PQ1, Q96RL6, Q9BE71, Q9NYZ4, Q9ULH4, Q9Y286, Q9Y336, B4HY03, B4Q599, P98160, Q13046, Q8WZ42, Q96D42, O46598, O54947, P0C0K5, Q5FVR0, Q5QNS5, Q6U7R4, Q8R183, Q8TDQ0, Q8VIM0, Q96H15
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
3 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
842 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:45839092:CCAG:C | donor_loss | 1.0000 |
| 18:45839093:CAG:C | donor_loss | 1.0000 |
| 18:45839097:T:A | donor_loss | 1.0000 |
| 18:45840197:T:A | acceptor_gain | 1.0000 |
| 18:45840209:A:AG | acceptor_gain | 1.0000 |
| 18:45840210:G:GA | acceptor_gain | 1.0000 |
| 18:45840210:GA:G | acceptor_gain | 1.0000 |
| 18:45840210:GAGC:G | acceptor_gain | 1.0000 |
| 18:45840240:CGG:C | donor_loss | 1.0000 |
| 18:45840242:G:A | donor_loss | 1.0000 |
| 18:45840242:G:GG | donor_gain | 1.0000 |
| 18:45842103:CA:C | acceptor_loss | 1.0000 |
| 18:45837859:C:G | donor_gain | 0.9900 |
| 18:45837910:G:GT | donor_gain | 0.9900 |
| 18:45837961:GGC:G | donor_gain | 0.9900 |
| 18:45839094:AGGTG:A | donor_gain | 0.9900 |
| 18:45840206:CACA:C | acceptor_loss | 0.9900 |
| 18:45840207:A:AG | acceptor_gain | 0.9900 |
| 18:45840208:C:G | acceptor_gain | 0.9900 |
| 18:45840208:CA:C | acceptor_loss | 0.9900 |
| 18:45840208:CAG:C | acceptor_gain | 0.9900 |
| 18:45840209:A:AT | acceptor_loss | 0.9900 |
| 18:45840209:AGA:A | acceptor_gain | 0.9900 |
| 18:45840210:G:C | acceptor_loss | 0.9900 |
| 18:45840210:GAG:G | acceptor_gain | 0.9900 |
| 18:45840210:GAGCA:G | acceptor_gain | 0.9900 |
| 18:45840237:CCACG:C | donor_gain | 0.9900 |
| 18:45840239:ACG:A | donor_gain | 0.9900 |
| 18:45840240:CG:C | donor_gain | 0.9900 |
| 18:45840241:GG:G | donor_gain | 0.9900 |
AlphaMissense
2094 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:45837643:G:C | W81C | 0.998 |
| 18:45837643:G:T | W81C | 0.998 |
| 18:45837678:T:G | F93C | 0.997 |
| 18:45837828:G:C | R143P | 0.995 |
| 18:45838780:T:A | C187S | 0.995 |
| 18:45838781:G:C | C187S | 0.995 |
| 18:45838818:G:C | W199C | 0.995 |
| 18:45838818:G:T | W199C | 0.995 |
| 18:45837532:G:C | W44C | 0.994 |
| 18:45837532:G:T | W44C | 0.994 |
| 18:45837590:T:A | C64S | 0.994 |
| 18:45837591:G:A | C64Y | 0.994 |
| 18:45837591:G:C | C64S | 0.994 |
| 18:45837824:T:A | C142S | 0.994 |
| 18:45837825:G:A | C142Y | 0.994 |
| 18:45837825:G:C | C142S | 0.994 |
| 18:45837592:C:G | C64W | 0.993 |
| 18:45837596:T:C | F66L | 0.993 |
| 18:45837597:T:G | F66C | 0.993 |
| 18:45837598:C:A | F66L | 0.993 |
| 18:45837598:C:G | F66L | 0.993 |
| 18:45837641:T:A | W81R | 0.993 |
| 18:45837641:T:C | W81R | 0.993 |
| 18:45837677:T:C | F93L | 0.993 |
| 18:45837678:T:C | F93S | 0.993 |
| 18:45837679:C:A | F93L | 0.993 |
| 18:45837679:C:G | F93L | 0.993 |
| 18:45837752:G:T | G118C | 0.992 |
| 18:45837826:C:G | C142W | 0.992 |
| 18:45838930:T:A | C237S | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000135281 (18:45829617 AC>A,ACC), RS1000146526 (18:45828474 G>A), RS1000192772 (18:45841457 G>C), RS1000679785 (18:45834381 C>T), RS1000846482 (18:45833184 T>C,G), RS1001119943 (18:45827117 C>T), RS1001417771 (18:45828874 G>A), RS1001494565 (18:45836106 G>A,T), RS1001551477 (18:45827267 T>C), RS1001774794 (18:45829677 T>C), RS1001806581 (18:45829053 A>C,G), RS1001899255 (18:45834078 T>C), RS1001971517 (18:45839629 G>A), RS1002359766 (18:45833695 CAA>C,CA), RS1002406010 (18:45827893 A>G)
Disease associations
OMIM: gene MIM:618105 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010538_9 | Sum of carotid plaque area | 5.000000e-06 |
| GCST010539_8 | Sum of stenosis | 3.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006501 | carotid plaque build |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523355 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — SIGLECs (conserved)
CTD chemical–gene interactions
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | increases methylation, affects methylation | 2 |
| Estradiol | decreases expression, affects cotreatment | 2 |
| Progesterone | affects cotreatment, decreases expression | 2 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| pentanal | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| mirdametinib | affects cotreatment, decreases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| Smoke | increases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4368161 | Binding | Binding affinity to recombinant human Fc-fused siglec-15 by fluorescence based glycan microarray analysis | Expedient assembly of Oligo-LacNAcs by a sugar nucleotide regeneration system: Finding the role of tandem LacNAc and sialic acid position towards siglec binding. — Eur J Med Chem |
Cellosaurus cell lines
4 cell lines: 2 spontaneously immortalized cell line, 1 transformed cell line, 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E6RQ | Genomeditech CHO-K1 H_SIGLEC15+TYROBP | Spontaneously immortalized cell line | Female |
| CVCL_E6UU | Genomeditech HEK-293 H_SIGLEC15+TYROBP | Transformed cell line | Female |
| CVCL_E6WL | Genomeditech MC-38 H_SIGLEC15+TYROBP | Cancer cell line | Female |
| CVCL_XZ47 | CHO-K1 OS8-SIGLEC15 | Spontaneously immortalized 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.