OSCAR
gene geneOn this page
Summary
OSCAR (osteoclast associated Ig-like receptor, HGNC:29960) is a protein-coding gene on chromosome 19q13.42, encoding Osteoclast-associated immunoglobulin-like receptor (Q8IYS5). Regulator of osteoclastogenesis which plays an important bone-specific function in osteoclast differentiation.
Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated receptor (OSCAR), which is a member of the leukocyte receptor complex protein family that plays critical roles in the regulation of both innate and adaptive immune responses. The encoded protein may play a role in oxidative stress-mediated atherogenesis as well as monocyte adhesion. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 126014 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 65 total
- MANE Select transcript:
NM_133169
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29960 |
| Approved symbol | OSCAR |
| Name | osteoclast associated Ig-like receptor |
| Location | 19q13.42 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000170909 |
| Ensembl biotype | protein_coding |
| OMIM | 606862 |
| Entrez | 126014 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 11 protein_coding
ENST00000284648, ENST00000351806, ENST00000356532, ENST00000358375, ENST00000359649, ENST00000391760, ENST00000391761, ENST00000611261, ENST00000616215, ENST00000617140, ENST00000956182
RefSeq mRNA: 6 — MANE Select: NM_133169
NM_001282349, NM_001282350, NM_130771, NM_133168, NM_133169, NM_206818
CCDS: CCDS12873, CCDS12874, CCDS12875, CCDS12876, CCDS62789, CCDS74444
Canonical transcript exons
ENST00000358375 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001122831 | 54099748 | 54099780 |
| ENSE00001122848 | 54096862 | 54097164 |
| ENSE00001282363 | 54095872 | 54096153 |
| ENSE00001892626 | 54100756 | 54100803 |
| ENSE00003937192 | 54094668 | 54095357 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 96.37.
FANTOM5 (CAGE): breadth broad, TPM avg 6.9612 / max 162.7968, expressed in 567 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 182586 | 6.9612 | 567 |
Top tissues by expression
135 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 96.37 | gold quality |
| leukocyte | CL:0000738 | 96.08 | gold quality |
| blood | UBERON:0000178 | 95.60 | gold quality |
| granulocyte | CL:0000094 | 95.24 | gold quality |
| spleen | UBERON:0002106 | 84.87 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 84.27 | gold quality |
| right lung | UBERON:0002167 | 83.62 | gold quality |
| bone marrow | UBERON:0002371 | 83.44 | gold quality |
| bone marrow cell | CL:0002092 | 80.40 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.48 | gold quality |
| lung | UBERON:0002048 | 78.27 | gold quality |
| vermiform appendix | UBERON:0001154 | 75.19 | gold quality |
| right coronary artery | UBERON:0001625 | 70.91 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 69.66 | gold quality |
| left uterine tube | UBERON:0001303 | 68.64 | gold quality |
| stromal cell of endometrium | CL:0002255 | 68.62 | gold quality |
| left coronary artery | UBERON:0001626 | 68.62 | gold quality |
| placenta | UBERON:0001987 | 67.84 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 67.84 | gold quality |
| apex of heart | UBERON:0002098 | 67.62 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 67.53 | gold quality |
| adipose tissue | UBERON:0001013 | 67.44 | gold quality |
| omental fat pad | UBERON:0010414 | 67.36 | gold quality |
| gall bladder | UBERON:0002110 | 67.34 | gold quality |
| thoracic aorta | UBERON:0001515 | 66.69 | gold quality |
| ascending aorta | UBERON:0001496 | 66.50 | gold quality |
| substantia nigra | UBERON:0002038 | 66.04 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 65.69 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 65.38 | gold quality |
| ectocervix | UBERON:0012249 | 65.00 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.35 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ID2, MAFB, MITF, NFATC1, SPI1, USF1
miRNA regulators (miRDB)
22 targeting OSCAR, 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-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-451B | 99.55 | 68.28 | 1380 |
| HSA-MIR-4797-5P | 99.39 | 68.01 | 1354 |
| HSA-MIR-532-3P | 99.34 | 65.76 | 1195 |
| HSA-MIR-133A-3P | 99.27 | 71.53 | 1270 |
| HSA-MIR-133B | 99.27 | 71.53 | 1270 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-5701 | 98.97 | 69.54 | 1502 |
| HSA-MIR-3938 | 98.72 | 66.07 | 834 |
| HSA-MIR-509-3P | 98.12 | 67.25 | 612 |
| HSA-MIR-6893-3P | 97.79 | 64.91 | 1238 |
| HSA-MIR-370-3P | 97.09 | 64.92 | 1221 |
| HSA-MIR-600 | 97.07 | 66.73 | 1259 |
| HSA-MIR-3189-3P | 96.80 | 66.34 | 896 |
| HSA-MIR-4732-5P | 90.07 | 64.77 | 412 |
Literature-anchored findings (GeneRIF, showing 20)
- hOSCAR thus represents a novel class of molecule expressed by dendritic cells involved in the initiation of the immune response. (PMID:15155468)
- ligation of OSCAR promotes dendritic cell survival by an ERK- and PI3K-dependent pathway, linked to expression of the Bcl-2 and Bcl-x(L) antiapoptotic molecules (PMID:15650060)
- Human OSCAR mediates the rescue from apoptosis and the cooperation between dendritic cells and antigen-specific T cells that is prevented by CD85j receptor. (PMID:15905516)
- Promoter variant in OSCAR gene (OSCAR-2322A>G) might be one of genetic determinants of bone density in postmenopausal women. (PMID:16007331)
- analysis of a positive feedback circuit of TRANCE-induced activation of NFATc1, involving NFATc1-mediated OSCAR expression and its subsequent activation of NFATc1, necessary for efficient differentiation of osteoclasts (PMID:16109714)
- OSCAR is a functional receptor on monocytes and neutrophils, involved in the induction of the primary proinflammatory cascade and the initiation of downstream immune responses. (PMID:16493074)
- OSCAR (osteoclast associated immunoglobulin-like receptor)is expressed by erosion front osteoclasts and by synovial microvessels mononuclear cells. OSCAR is induced in monocytes of rheumatod arthritis patients, facilitating osteoclast differentiation (PMID:18821671)
- This review discusses the structure-function relationship, expression pattern, and physiological role of OSCAR in osteoimmunology and summarizes its potential implications for human diseases. (PMID:21172874)
- Data suggest that OSCAR is a collagen receptor that binds to specific collagen motifs and costimulates osteoclastogenesis in DAP12-deficient humans and mice. (PMID:21841309)
- OSCAR is expressed in vascular endothelial cells and is regulated by oxLDL involving NFATc1 (PMID:22009730)
- Rotative stress in mouse cells results in increased levels of Oscar transcription. (PMID:22949349)
- endothelial cell-derived OSCAR was found to be involved in the STAT signaling pathway and to affect monocyte adhesion. (PMID:22985931)
- Data indicate that osteoclast associated receptor (OSCAR) was strongly expressed by the vasculature of active rheumatoid arthritis (RA) patients. (PMID:23146195)
- Plasma OSCAR level was higher in the serum of RA patients than controls, and higher in patients with destructive RA rather than non-destructive RA. (PMID:24448348)
- OSCAR is a receptor for surfactant protein D that activates TNF-alpha release from human CCR2+ inflammatory monocytes. (PMID:25716998)
- Each domain of OSCAR binds a collagen triple-helical peptide; the primary site is on the C-terminal domain in contrast to GPVI and LAIR-1. (PMID:26552697)
- OSCAR can play a proinflammatory role in monocyte-derived cells and may contribute crucially on multiple levels to rheumatoid arthritis pathogenesis. (PMID:26786702)
- regulation of OSCAR by TNF-alpha and receptor activator of NF kappa beta ligand (RANKL) in pre-osteoclasts/osteoclasts (PMID:28555364)
- Sex-biased ceRNA networks reveal that OSCAR can promote proliferation and migration of lung adenocarcinoma in women. (PMID:32246488)
- Osteoclast-associated receptor blockade prevents articular cartilage destruction via chondrocyte apoptosis regulation. (PMID:32859940)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Oscar | ENSMUSG00000054594 |
| rattus_norvegicus | Oscar | ENSRNOG00000055716 |
Paralogs (25): GP6 (ENSG00000088053), LILRB1 (ENSG00000104972), LILRA1 (ENSG00000104974), LILRB5 (ENSG00000105609), A1BG (ENSG00000121410), KIR2DL1 (ENSG00000125498), LILRB2 (ENSG00000131042), IGSF1 (ENSG00000147255), LAIR2 (ENSG00000167618), KIR3DL1 (ENSG00000167633), FCAR (ENSG00000186431), LILRB4 (ENSG00000186818), LILRA5 (ENSG00000187116), KIR2DL4 (ENSG00000189013), VSTM1 (ENSG00000189068), NCR1 (ENSG00000189430), LILRB3 (ENSG00000204577), KIR2DS4 (ENSG00000221957), LILRA4 (ENSG00000239961), LILRA2 (ENSG00000239998), KIR3DL2 (ENSG00000240403), KIR3DL3 (ENSG00000242019), KIR2DL3 (ENSG00000243772), LILRA6 (ENSG00000244482), TARM1 (ENSG00000248385)
Protein
Protein identifiers
Osteoclast-associated immunoglobulin-like receptor — Q8IYS5 (reviewed: Q8IYS5)
Alternative names: Polymeric immunoglobulin receptor 3
All UniProt accessions (6): Q8IYS5, A0A087WV17, A0A087X1R2, A0A0A0MR14, A0A0A0MRF2, A8MWV3
UniProt curated annotations — full annotation on UniProt →
Function. Regulator of osteoclastogenesis which plays an important bone-specific function in osteoclast differentiation.
Subcellular location. Secreted Cell membrane.
Similarity. Belongs to the leukocyte receptor complex/polymeric immunoglobulin receptor (PIR/LRC) family.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IYS5-1 | 1, OSCAR-S1 | yes |
| Q8IYS5-2 | 2, OSCAR-M1 | |
| Q8IYS5-3 | 3, OSCAR-M2 | |
| Q8IYS5-4 | 4, OSCAR-S2 | |
| Q8IYS5-5 | 5 | |
| Q8IYS5-7 | 7 | |
| Q8IYS5-6 | 6, OSCAR-M3 |
RefSeq proteins (6): NP_001269278, NP_001269279, NP_570127, NP_573398, NP_573399, NP_996554 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003599 | Ig_sub | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050412 | Ig-like_Receptors_ImmuneReg | Family |
Pfam: PF13895
UniProt features (34 total): strand 15, splice variant 4, sequence variant 2, sequence conflict 2, domain 2, glycosylation site 2, signal peptide 1, chain 1, helix 1, turn 1, region of interest 1, compositionally biased region 1, disulfide bond 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5EIQ | X-RAY DIFFRACTION | 2.01 |
| 5CJ8 | X-RAY DIFFRACTION | 2.02 |
| 5CJB | X-RAY DIFFRACTION | 2.4 |
| 5EIV | X-RAY DIFFRACTION | 2.41 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IYS5-F1 | 80.58 | 0.58 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (1): 53–100
Glycosylation sites (2): 48, 145
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| R-HSA-6798695 | Neutrophil degranulation |
MSigDB gene sets: 98 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GSE45365_NK_CELL_VS_CD8_TCELL_UP, RRAGTTGT_UNKNOWN, REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, RACCACAR_AML_Q6, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, HAMAI_APOPTOSIS_VIA_TRAIL_DN, GOBP_OSTEOCLAST_DIFFERENTIATION, TGGAAA_NFAT_Q4_01, GOCC_SECRETORY_VESICLE, GOCC_VESICLE_LUMEN, GOCC_SPECIFIC_GRANULE, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY
GO Biological Process (6): immune response-regulating signaling pathway (GO:0002764), osteoclast differentiation (GO:0030316), collagen-activated signaling pathway (GO:0038065), Fc-gamma receptor signaling pathway (GO:0038094), positive regulation of bone resorption (GO:0045780), multinuclear osteoclast differentiation (GO:0072674)
GO Molecular Function (1): collagen receptor activity (GO:0038064)
GO Cellular Component (7): extracellular region (GO:0005576), plasma membrane (GO:0005886), specific granule lumen (GO:0035580), extracellular exosome (GO:0070062), tertiary granule lumen (GO:1904724), cell surface (GO:0009986), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| signal transduction | 1 |
| regulation of immune response | 1 |
| myeloid leukocyte differentiation | 1 |
| cell surface receptor signaling pathway | 1 |
| Fc receptor signaling pathway | 1 |
| regulation of bone resorption | 1 |
| bone resorption | 1 |
| positive regulation of multicellular organismal process | 1 |
| osteoclast differentiation | 1 |
| transmembrane signaling receptor activity | 1 |
| collagen binding | 1 |
| collagen-activated signaling pathway | 1 |
| membrane | 1 |
| cell periphery | 1 |
| secretory granule lumen | 1 |
| specific granule | 1 |
| extracellular vesicle | 1 |
| intracellular organelle lumen | 1 |
| tertiary granule | 1 |
Protein interactions and networks
STRING
1020 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OSCAR | FCER1G | P30273 | 992 |
| OSCAR | TYROBP | O43914 | 978 |
| OSCAR | DCSTAMP | Q9H295 | 815 |
| OSCAR | TNFSF11 | O14788 | 807 |
| OSCAR | NFATC1 | O95644 | 776 |
| OSCAR | CTSK | P43235 | 772 |
| OSCAR | ACP5 | P13686 | 769 |
| OSCAR | CALCR | P30988 | 650 |
| OSCAR | OCSTAMP | Q9BR26 | 649 |
| OSCAR | CSF1 | P09603 | 615 |
| OSCAR | ATP6V0D2 | Q8N8Y2 | 602 |
| OSCAR | CSF1R | P07333 | 592 |
| OSCAR | SIRPB1 | O00241 | 581 |
| OSCAR | FOS | P01100 | 574 |
| OSCAR | SFTPD | P35247 | 548 |
| OSCAR | TREM2 | Q9NZC2 | 548 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MPIG6B | OSCAR | psi-mi:“MI:0915”(physical association) | 0.400 |
| LRRTM2 | OSCAR | psi-mi:“MI:0915”(physical association) | 0.400 |
| OSCAR | TARM1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| OSCAR | COL2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| OSCAR | arsC | psi-mi:“MI:0915”(physical association) | 0.000 |
| OSCAR | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (5): COL2A1 (Affinity Capture-MS), TRIP10 (Affinity Capture-MS), OSCAR (Affinity Capture-RNA), OSCAR (Negative Genetic), OSCAR (Negative Genetic)
ESM2 similar proteins: A0A0K2S4Q6, A6NI73, B6A8C7, G1TR84, O43699, O75019, O75022, O75023, O75871, P0C191, P24071, P31994, P40198, P43629, P43630, P59901, P97484, Q08708, Q14943, Q28110, Q496F6, Q6GTX8, Q6ISS4, Q6PI73, Q6UX52, Q863H2, Q8C567, Q8IYS5, Q8K249, Q8MJZ2, Q8MJZ7, Q8N109, Q8N149, Q8N423, Q8N6C8, Q8N743, Q8NHJ6, Q8NHK3, Q8NHL6, Q8VBT3
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
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SPI1 | “up-regulates quantity by expression” | OSCAR | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
65 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 58 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
533 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:54100754:A:AC | donor_gain | 1.0000 |
| 19:54100755:C:CC | donor_gain | 1.0000 |
| 19:54095866:CCTCA:C | donor_loss | 0.9900 |
| 19:54095867:CTCA:C | donor_loss | 0.9900 |
| 19:54095868:TCACC:T | donor_loss | 0.9900 |
| 19:54095874:T:A | donor_gain | 0.9900 |
| 19:54097008:C:CT | acceptor_gain | 0.9900 |
| 19:54097008:C:T | acceptor_gain | 0.9900 |
| 19:54097210:C:T | acceptor_gain | 0.9900 |
| 19:54100755:CAG:C | donor_gain | 0.9900 |
| 19:54096149:CTCCT:C | acceptor_gain | 0.9800 |
| 19:54096150:TCCT:T | acceptor_gain | 0.9800 |
| 19:54096151:CCTC:C | acceptor_gain | 0.9800 |
| 19:54096152:CT:C | acceptor_gain | 0.9800 |
| 19:54096154:C:CC | acceptor_gain | 0.9800 |
| 19:54096154:C:G | acceptor_gain | 0.9800 |
| 19:54097210:C:CT | acceptor_gain | 0.9800 |
| 19:54100749:GACT:G | donor_loss | 0.9800 |
| 19:54100750:ACTCA:A | donor_loss | 0.9800 |
| 19:54100751:CTCA:C | donor_loss | 0.9800 |
| 19:54100752:TCAC:T | donor_loss | 0.9800 |
| 19:54100753:CACA:C | donor_loss | 0.9800 |
| 19:54100755:C:CG | donor_loss | 0.9800 |
| 19:54100755:CA:C | donor_gain | 0.9800 |
| 19:54100755:CAGA:C | donor_gain | 0.9800 |
| 19:54100755:CAGAG:C | donor_gain | 0.9800 |
| 19:54095358:C:CC | acceptor_gain | 0.9700 |
| 19:54095365:C:CT | acceptor_gain | 0.9700 |
| 19:54095366:G:T | acceptor_gain | 0.9700 |
| 19:54096151:CCT:C | acceptor_gain | 0.9700 |
AlphaMissense
1641 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:54095982:A:C | F182C | 0.997 |
| 19:54096050:G:C | F159L | 0.995 |
| 19:54096050:G:T | F159L | 0.995 |
| 19:54096052:A:G | F159L | 0.995 |
| 19:54095981:G:C | F182L | 0.994 |
| 19:54095981:G:T | F182L | 0.994 |
| 19:54095982:A:G | F182S | 0.994 |
| 19:54095983:A:G | F182L | 0.994 |
| 19:54096078:C:G | C150S | 0.994 |
| 19:54096079:A:T | C150S | 0.994 |
| 19:54095943:C:G | C195S | 0.993 |
| 19:54095944:A:T | C195S | 0.993 |
| 19:54095950:A:C | Y193D | 0.993 |
| 19:54097049:A:C | F62L | 0.993 |
| 19:54097049:A:T | F62L | 0.993 |
| 19:54097051:A:G | F62L | 0.993 |
| 19:54097077:C:G | C53S | 0.993 |
| 19:54097078:A:T | C53S | 0.993 |
| 19:54095942:G:C | C195W | 0.992 |
| 19:54095943:C:T | C195Y | 0.992 |
| 19:54096943:A:C | Y98D | 0.992 |
| 19:54097083:A:G | L51S | 0.991 |
| 19:54096077:G:C | C150W | 0.990 |
| 19:54096980:G:C | F85L | 0.990 |
| 19:54096980:G:T | F85L | 0.990 |
| 19:54096982:A:G | F85L | 0.990 |
| 19:54095944:A:G | C195R | 0.989 |
| 19:54096051:A:C | F159C | 0.989 |
| 19:54096079:A:G | C150R | 0.989 |
| 19:54097050:A:C | F62C | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000958527 (19:54096673 C>G,T), RS1000987201 (19:54102419 A>G), RS1001018340 (19:54102644 C>T), RS1002869905 (19:54094716 C>G,T), RS1002919296 (19:54094598 C>G), RS1003035933 (19:54099486 T>C), RS1003403923 (19:54098728 G>A), RS1003875404 (19:54098525 C>T), RS1004437022 (19:54100598 T>A), RS1004477237 (19:54094727 C>G), RS1004773564 (19:54099140 G>A), RS1004820679 (19:54094871 A>G), RS1005029168 (19:54094181 A>C), RS1006927516 (19:54096186 T>C,G), RS1007041322 (19:54102092 C>A,T)
Disease associations
OMIM: gene MIM:606862 | 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 |
|---|---|---|
| GCST001692_13 | Response to taxane treatment (docetaxel) | 9.000000e-06 |
| GCST006585_2578 | Blood protein levels | 1.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 3 |
| sodium arsenite | increases expression, affects acetylation, affects methylation | 2 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Nickel | increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| o,p’-DDT | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| tobacco tar | decreases reaction, increases expression | 1 |
| diallyl disulfide | decreases reaction, increases expression | 1 |
| allyl sulfide | decreases reaction, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | affects acetylation, affects methylation | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Cisplatin | increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| Niclosamide | decreases reaction, increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Rotenone | decreases reaction, increases expression | 1 |
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.