SIGLEC6
geneOn this page
Also known as OB-BP1SIGLEC-6CD327
Summary
SIGLEC6 (sialic acid binding Ig like lectin 6, HGNC:10875) is a protein-coding gene on chromosome 19q13.41, encoding Sialic acid-binding Ig-like lectin 6 (O43699). Putative adhesion molecule that mediates sialic-acid dependent binding to cells.
This gene encodes a member of the SIGLEC (sialic acid binding immunoglobulin-like lectin) family of proteins. The encoded transmembrane receptor binds sialyl-TN glycans and leptin. Placental expression of the encoded protein is upregulated in preeclampsia.
Source: NCBI Gene 946 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 76 total
- MANE Select transcript:
NM_001245
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10875 |
| Approved symbol | SIGLEC6 |
| Name | sialic acid binding Ig like lectin 6 |
| Location | 19q13.41 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OB-BP1, SIGLEC-6, CD327 |
| Ensembl gene | ENSG00000105492 |
| Ensembl biotype | protein_coding |
| OMIM | 604405 |
| Entrez | 946 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000343300, ENST00000346477, ENST00000359982, ENST00000391797, ENST00000425629, ENST00000436458, ENST00000474054, ENST00000489837, ENST00000496422
RefSeq mRNA: 6 — MANE Select: NM_001245
NM_001177547, NM_001177548, NM_001177549, NM_001245, NM_198845, NM_198846
CCDS: CCDS12834, CCDS12835, CCDS12836, CCDS54307, CCDS54308, CCDS59417
Canonical transcript exons
ENST00000425629 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000723576 | 51529724 | 51529981 |
| ENSE00003210708 | 51517819 | 51520255 |
| ENSE00003492149 | 51527747 | 51527828 |
| ENSE00003542454 | 51531160 | 51531519 |
| ENSE00003580663 | 51528160 | 51528253 |
| ENSE00003584502 | 51530681 | 51530959 |
| ENSE00003633624 | 51530437 | 51530484 |
| ENSE00003842657 | 51531582 | 51531670 |
Expression profiles
Bgee: expression breadth ubiquitous, 131 present calls, max score 89.95.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 6.7083 / max 1399.1258, expressed in 172 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 182453 | 3.4001 | 126 |
| 182451 | 1.4479 | 68 |
| 182456 | 0.9455 | 56 |
| 182454 | 0.7250 | 46 |
| 182455 | 0.1751 | 26 |
| 182443 | 0.0147 | 7 |
Top tissues by expression
263 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 89.95 | silver quality |
| placenta | UBERON:0001987 | 89.05 | gold quality |
| tibialis anterior | UBERON:0001385 | 75.70 | silver quality |
| rectum | UBERON:0001052 | 75.00 | gold quality |
| pancreatic ductal cell | CL:0002079 | 73.42 | gold quality |
| gall bladder | UBERON:0002110 | 73.21 | gold quality |
| ileal mucosa | UBERON:0000331 | 71.19 | gold quality |
| lymph node | UBERON:0000029 | 70.74 | gold quality |
| vermiform appendix | UBERON:0001154 | 69.26 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 68.26 | gold quality |
| caecum | UBERON:0001153 | 68.25 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 68.24 | silver quality |
| small intestine | UBERON:0002108 | 67.49 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 67.14 | gold quality |
| lower esophagus | UBERON:0013473 | 67.10 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 66.19 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 66.13 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 65.81 | gold quality |
| upper lobe of lung | UBERON:0008948 | 65.50 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 64.22 | gold quality |
| mucosa of stomach | UBERON:0001199 | 63.62 | gold quality |
| colonic epithelium | UBERON:0000397 | 63.53 | silver quality |
| lung | UBERON:0002048 | 63.38 | gold quality |
| fundus of stomach | UBERON:0001160 | 63.20 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 62.75 | gold quality |
| esophagus | UBERON:0001043 | 62.73 | gold quality |
| right coronary artery | UBERON:0001625 | 62.49 | gold quality |
| deltoid | UBERON:0001476 | 62.38 | silver quality |
| granulocyte | CL:0000094 | 62.18 | gold quality |
| lower lobe of lung | UBERON:0008949 | 62.16 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 21.40 |
| E-CURD-122 | yes | 11.58 |
| E-MTAB-8410 | yes | 10.75 |
| E-GEOD-130148 | yes | 9.24 |
| E-MTAB-9801 | yes | 6.53 |
| E-MTAB-5061 | yes | 4.57 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
35 targeting SIGLEC6, 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-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-1197 | 99.70 | 67.75 | 1027 |
| HSA-MIR-4527 | 99.66 | 67.43 | 714 |
| HSA-MIR-7156-5P | 99.64 | 68.81 | 1369 |
| HSA-MIR-6503-5P | 99.62 | 66.96 | 597 |
| HSA-MIR-5007-3P | 99.51 | 68.14 | 1242 |
| HSA-MIR-216A-5P | 99.50 | 68.02 | 1288 |
| HSA-MIR-4273 | 99.45 | 67.93 | 1206 |
| HSA-MIR-148A-5P | 99.30 | 68.27 | 1141 |
| HSA-MIR-4520-2-3P | 99.14 | 69.28 | 1009 |
| HSA-MIR-323B-3P | 99.14 | 68.89 | 725 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-4711-3P | 98.97 | 66.87 | 1020 |
| HSA-MIR-4520-3P | 98.75 | 66.55 | 963 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-6830-3P | 98.62 | 68.07 | 1760 |
| HSA-MIR-2117 | 98.48 | 67.97 | 1307 |
| HSA-MIR-4277 | 98.34 | 67.17 | 1323 |
| HSA-MIR-5088-3P | 98.29 | 66.63 | 1310 |
| HSA-MIR-4769-3P | 97.95 | 68.17 | 1002 |
| HSA-MIR-6817-5P | 97.95 | 67.86 | 1026 |
| HSA-MIR-6515-5P | 97.08 | 65.48 | 1219 |
| HSA-MIR-346 | 97.01 | 66.97 | 662 |
| HSA-MIR-664B-5P | 96.74 | 67.50 | 509 |
| HSA-MIR-642B-5P | 96.37 | 67.26 | 745 |
Literature-anchored findings (GeneRIF, showing 13)
- the negative signaling potential of Siglec-6 may have a role in human-specific placental expression, to slow the tempo of the human birth process (PMID:17580316)
- Preeclampsia involves changes in the gene expression of SIGLEC6 in placental cytotrophoblasts. (PMID:18818296)
- GdA interacts with Siglec-6 to suppress trophoblast invasiveness by down-regulating the ERK/c-Jun signaling pathway. (PMID:21880722)
- Siglec6 and leptin play a role in the aberrant properties characteristic of gestational trophoblastic disease, namely excess proliferation and invasion. (PMID:23089140)
- Siglec-6 expression is increased in preterm preeclampsia placentas. (PMID:23171684)
- Study findings illustrate that SIGLEC6 is a functionally inhibitory receptor on mast cells and suggest that SIGLEC6 expression may be relevant for mast cells activity in the tumor microenvironment of colorectal cancer. (PMID:30294327)
- Glycosylated Siglec-6 expression in syncytiotrophoblast-derived extracellular vesicles from preeclampsia placentas. (PMID:32998819)
- Siglec-6 as a New Potential Immune Checkpoint for Bladder Cancer Patients. (PMID:34147404)
- Functional and Phenotypic Characterization of Siglec-6 on Human Mast Cells. (PMID:35406705)
- Expression and regulation of Siglec-6 (CD327) on human mast cells and basophils. (PMID:35953001)
- Elevated trophoblastic Siglec6 contributes to the impairment of vascular endothelial cell functions by downregulating Wnt6/beta-catenin signaling in preeclampsia. (PMID:36113626)
- Siglec-6 Signaling Uses Src Kinase Tyrosine Phosphorylation and SHP-2 Recruitment. (PMID:36359823)
- Siglec-6 mediates the uptake of extracellular vesicles through a noncanonical glycolipid binding pocket. (PMID:37087495)
Cross-species orthologs
0 orthologs
Paralogs (16): CD22 (ENSG00000012124), SIGLEC1 (ENSG00000088827), SIGLEC8 (ENSG00000105366), CD33 (ENSG00000105383), MAG (ENSG00000105695), SIGLEC9 (ENSG00000129450), SIGLEC10 (ENSG00000142512), TMEM25 (ENSG00000149582), SIGLEC11 (ENSG00000161640), SIGLEC16 (ENSG00000161643), SIGLEC7 (ENSG00000168995), SIGLECL1 (ENSG00000179213), SIGLEC15 (ENSG00000197046), SIGLEC14 (ENSG00000254415), SIGLEC12 (ENSG00000254521), SIGLEC5 (ENSG00000268500)
Protein
Protein identifiers
Sialic acid-binding Ig-like lectin 6 — O43699 (reviewed: O43699)
Alternative names: CD33 antigen-like 1, CDw327, Obesity-binding protein 1
All UniProt accessions (1): O43699
UniProt curated annotations — full annotation on UniProt →
Function. Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface.
Subunit / interactions. Interacts with LEP.
Subcellular location. Cell membrane Secreted.
Tissue specificity. Expressed at high levels in placenta (cyto- and syncytiotrophoblastic cells) and at lower levels in spleen, peripheral blood leukocytes (predominantly B-cells) and small intestine.
Domain organisation. Contains 1 copy 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.
Miscellaneous. Should not be confused with SIGLEC5 which has been called CD33L2.
Similarity. Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O43699-1 | 1, Membrane-bound, CD33L1 | yes |
| O43699-2 | 2, Secreted, CD33L2 | |
| O43699-3 | 3 | |
| O43699-4 | 4 | |
| O43699-5 | 5 | |
| O43699-6 | 6 |
RefSeq proteins (6): NP_001171018, NP_001171019, NP_001171020, NP_001236, NP_942142, NP_942143 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003006 | Ig/MHC_CS | Conserved_site |
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013098 | Ig_I-set | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013151 | Immunoglobulin_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR051036 | SIGLEC | Family |
Pfam: PF00047, PF07679, PF07686
UniProt features (36 total): sequence conflict 8, splice variant 7, glycosylation site 4, disulfide bond 4, domain 3, topological domain 2, sequence variant 2, short sequence motif 2, signal peptide 1, chain 1, binding site 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43699-F1 | 77.55 | 0.47 |
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): 122
Disulfide bonds (4): 46–172, 51–104, 166–215, 274–319
Glycosylation sites (4): 103, 149, 163, 233
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 77 (showing top):
REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_CELL_CELL_SIGNALING, BROWNE_HCMV_INFECTION_48HR_DN, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_16D_UP, GOMF_ORGANIC_ACID_BINDING, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, GOMF_SIALIC_ACID_BINDING, KRAS.DF.V1_DN, CHAF1B_TARGET_GENES, NFKBIA_TARGET_GENES, ZFP91_TARGET_GENES, ZNF766_TARGET_GENES, ZNF768_TARGET_GENES, MIR670_3P, GSE10856_CTRL_VS_TNFRSF6B_IN_MACROPHAGE_DN
GO Biological Process (2): cell adhesion (GO:0007155), cell-cell signaling (GO:0007267)
GO Molecular Function (3): carbohydrate binding (GO:0030246), sialic acid binding (GO:0033691), protein binding (GO:0005515)
GO Cellular Component (5): extracellular region (GO:0005576), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| binding | 2 |
| cellular process | 1 |
| cell communication | 1 |
| signaling | 1 |
| carboxylic acid binding | 1 |
| carbohydrate derivative binding | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1014 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SIGLEC6 | LEP | P41159 | 931 |
| SIGLEC6 | AXL | P30530 | 575 |
| SIGLEC6 | SLAMF1 | Q13291 | 567 |
| SIGLEC6 | SIGLEC15 | Q6ZMC9 | 543 |
| SIGLEC6 | FCRL4 | Q96PJ5 | 509 |
| SIGLEC6 | ST6GAL1 | P15907 | 492 |
| SIGLEC6 | PAPPA2 | Q9BXP8 | 483 |
| SIGLEC6 | CLEC9A | Q6UXN8 | 482 |
| SIGLEC6 | MPPE1 | Q53F39 | 480 |
| SIGLEC6 | CLEC4C | Q8WTT0 | 479 |
| SIGLEC6 | IL3RA | P26951 | 474 |
| SIGLEC6 | CD1C | P29017 | 450 |
| SIGLEC6 | THBD | P07204 | 430 |
| SIGLEC6 | IL33 | O95760 | 425 |
| SIGLEC6 | AWAT2 | Q6E213 | 420 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SIGLEC6 | TCF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FHL2 | SIGLEC6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SIGLEC6 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| LEP | SIGLEC6 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| BTNL8 | SIGLEC6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CD300LB | SIGLEC6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FCAR | SIGLEC6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIGLEC6 | FSTL5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IL23A | SIGLEC6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KIR2DS4 | SIGLEC6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LRIT1 | SIGLEC6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MOG | SIGLEC6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIGLEC6 | MPZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| PILRA | SIGLEC6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ECE1 | SIGLEC6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SIGLEC6 | rfbD | psi-mi:“MI:0915”(physical association) | 0.000 |
| SIGLEC6 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (7): FHL2 (Two-hybrid), TCF4 (Two-hybrid), LGALS3BP (Reconstituted Complex), SIGLEC6 (Proximity Label-MS), SIGLEC6 (Two-hybrid), MALL (Two-hybrid), ZNF655 (Two-hybrid)
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: A6NMB1, D3YXG0, O15389, O43699, O60469, P20138, P35329, Q08ET2, Q63994, Q64JA4, Q80ZE3, Q8N441, Q8VHZ8, Q91Y57, Q920G3, Q95LH0, Q96LC7, Q96PQ1, Q96RL6, Q96RW7, Q9ERC8, Q9NYZ4, Q9Y286, Q9Y336, Q460M5, Q6ZMC9, Q80TG9, Q8N7X8, Q9BE71, Q9ULH4, A1KZ92, A2AJ76, A2ASS6, P98160, Q28173, Q62151, Q63495, Q8BQC3, Q8NDA2, Q9QZS7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 67 |
| Likely benign | 4 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1477 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:51530679:A:AC | donor_gain | 1.0000 |
| 19:51530680:C:CC | donor_gain | 1.0000 |
| 19:51520255:CCT:C | acceptor_gain | 0.9900 |
| 19:51529742:G:C | donor_gain | 0.9900 |
| 19:51530675:ACTC:A | donor_loss | 0.9900 |
| 19:51530676:CTCA:C | donor_loss | 0.9900 |
| 19:51530677:TCA:T | donor_loss | 0.9900 |
| 19:51530678:CA:C | donor_loss | 0.9900 |
| 19:51530679:A:T | donor_loss | 0.9900 |
| 19:51530680:CAG:C | donor_gain | 0.9900 |
| 19:51531191:A:AC | donor_gain | 0.9900 |
| 19:51531217:TCA:T | donor_gain | 0.9900 |
| 19:51529723:CAATG:C | donor_gain | 0.9800 |
| 19:51529741:A:AC | donor_gain | 0.9800 |
| 19:51529810:A:AC | donor_gain | 0.9800 |
| 19:51529811:C:CC | donor_gain | 0.9800 |
| 19:51529984:T:C | acceptor_gain | 0.9800 |
| 19:51529984:T:TC | acceptor_gain | 0.9800 |
| 19:51530672:AGCAC:A | donor_loss | 0.9800 |
| 19:51530673:GCACT:G | donor_loss | 0.9800 |
| 19:51530674:CACTC:C | donor_loss | 0.9800 |
| 19:51530680:CA:C | donor_gain | 0.9800 |
| 19:51530680:CAGG:C | donor_gain | 0.9800 |
| 19:51530680:CAGGA:C | donor_gain | 0.9800 |
| 19:51520257:T:C | acceptor_gain | 0.9700 |
| 19:51529722:A:AC | donor_gain | 0.9700 |
| 19:51529723:C:CC | donor_gain | 0.9700 |
| 19:51530128:C:A | donor_gain | 0.9700 |
| 19:51530878:C:T | acceptor_gain | 0.9700 |
| 19:51531155:CTT:C | donor_loss | 0.9700 |
AlphaMissense
2919 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:51531308:G:C | F93L | 0.989 |
| 19:51531308:G:T | F93L | 0.989 |
| 19:51531310:A:G | F93L | 0.989 |
| 19:51531309:A:C | F93C | 0.966 |
| 19:51530841:C:A | W182C | 0.960 |
| 19:51530841:C:G | W182C | 0.960 |
| 19:51531309:A:G | F93S | 0.960 |
| 19:51531383:G:C | F68L | 0.959 |
| 19:51531383:G:T | F68L | 0.959 |
| 19:51531385:A:G | F68L | 0.959 |
| 19:51531264:A:G | I108T | 0.948 |
| 19:51529880:A:G | W286R | 0.944 |
| 19:51529880:A:T | W286R | 0.944 |
| 19:51529915:C:G | C274S | 0.944 |
| 19:51529916:A:T | C274S | 0.944 |
| 19:51530843:A:G | W182R | 0.944 |
| 19:51530843:A:T | W182R | 0.944 |
| 19:51530744:A:G | C215R | 0.943 |
| 19:51529878:C:A | W286C | 0.942 |
| 19:51529878:C:G | W286C | 0.942 |
| 19:51530891:A:G | C166R | 0.942 |
| 19:51531243:T:G | D115A | 0.941 |
| 19:51530847:G:C | F180L | 0.935 |
| 19:51530847:G:T | F180L | 0.935 |
| 19:51530849:A:G | F180L | 0.935 |
| 19:51530890:C:G | C166S | 0.935 |
| 19:51530891:A:T | C166S | 0.935 |
| 19:51529780:C:G | C319S | 0.931 |
| 19:51529781:A:T | C319S | 0.931 |
| 19:51529875:G:C | F287L | 0.930 |
dbSNP variants (sampled 300 via entrez): RS1000167340 (19:51518955 T>A), RS1000175149 (19:51521605 G>A), RS1000191172 (19:51525498 GC>G), RS1000472378 (19:51532380 A>G,T), RS1000473272 (19:51519076 A>T), RS1000521297 (19:51532746 A>G), RS1000807731 (19:51526668 T>C), RS1001295507 (19:51522718 G>T), RS1001498503 (19:51517331 T>C), RS1001614920 (19:51519403 T>C), RS1001732329 (19:51528551 A>G), RS1001896938 (19:51530323 T>C), RS1001979854 (19:51519123 G>A), RS1002616092 (19:51520786 G>T), RS1002812467 (19:51529560 G>A)
Disease associations
OMIM: gene MIM:604405 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003114_3 | Carotid intima media thickness | 4.000000e-09 |
| GCST006585_27 | Blood protein levels | 1.000000e-114 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
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: other protein — CD33-related SIGLECs
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | increases expression | 2 |
| titanium dioxide | increases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| monomethylpropion | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Allergens | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Silver | increases expression | 1 |
| Tetradecanoylphorbol Acetate | affects cotreatment, affects expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Zinc | affects cotreatment, affects expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): prostate cancer