P2RY8
geneOn this page
Also known as P2Y8
Summary
P2RY8 (P2Y receptor family member 8, HGNC:15524) is a protein-coding gene on chromosome Xp22.33 and Yp11.3, encoding S-geranylgeranyl-glutathione receptor P2RY8 (Q86VZ1). G protein-coupled receptor for S-geranylgeranyl-glutathione (GGG), an endogenous metabolite present in lymphoid tissues.
The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene is moderately expressed in undifferentiated HL60 cells, and is located on both chromosomes X and Y.
Source: NCBI Gene 286530 — RefSeq curated summary.
At a glance
- Gene–disease (curated): systemic lupus erythematosus (Moderate, GenCC)
- Clinical variants (ClinVar): 16 total — 1 likely-pathogenic
- Druggable target: yes
- Cancer driver (intOGen): activating (oncogene-like) across 4 cancer types
- MANE Select transcript:
NM_178129
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15524 |
| Approved symbol | P2RY8 |
| Name | P2Y receptor family member 8 |
| Location | Xp22.33 and Yp11.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | P2Y8 |
| Ensembl gene | ENSG00000182162 |
| Ensembl biotype | protein_coding |
| OMIM | 300525 |
| Entrez | 286530 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 8 protein_coding
ENST00000381297, ENST00000460672, ENST00000882679, ENST00000882680, ENST00000882681, ENST00000882682, ENST00000960525, ENST00000960526
RefSeq mRNA: 8 — MANE Select: NM_178129
NM_001424186, NM_001424187, NM_001424188, NM_001424189, NM_001424190, NM_001424191, NM_001424192, NM_178129
CCDS: CCDS14115
Canonical transcript exons
ENST00000381297 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001337924 | 1536921 | 1537185 |
| ENSE00001488116 | 1462581 | 1466582 |
Expression profiles
Bgee: expression breadth ubiquitous, 167 present calls, max score 97.35.
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 97.35 | gold quality |
| granulocyte | CL:0000094 | 95.07 | gold quality |
| blood | UBERON:0000178 | 91.09 | gold quality |
| bone marrow cell | CL:0002092 | 90.36 | gold quality |
| bone marrow | UBERON:0002371 | 89.58 | gold quality |
| leukocyte | CL:0000738 | 89.53 | gold quality |
| monocyte | CL:0000576 | 88.90 | gold quality |
| lymph node | UBERON:0000029 | 88.66 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 87.49 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 87.00 | gold quality |
| vermiform appendix | UBERON:0001154 | 86.28 | gold quality |
| ileal mucosa | UBERON:0000331 | 85.86 | gold quality |
| spleen | UBERON:0002106 | 82.63 | gold quality |
| superficial temporal artery | UBERON:0001614 | 79.90 | gold quality |
| caecum | UBERON:0001153 | 79.73 | gold quality |
| thymus | UBERON:0002370 | 77.04 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 76.79 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 76.43 | gold quality |
| tonsil | UBERON:0002372 | 76.36 | gold quality |
| thyroid gland | UBERON:0002046 | 75.90 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 74.40 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 73.45 | gold quality |
| right adrenal gland | UBERON:0001233 | 73.12 | gold quality |
| left adrenal gland | UBERON:0001234 | 73.04 | gold quality |
| adrenal cortex | UBERON:0001235 | 73.01 | gold quality |
| adrenal gland | UBERON:0002369 | 71.83 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 71.36 | gold quality |
| gall bladder | UBERON:0002110 | 71.31 | gold quality |
| oviduct epithelium | UBERON:0004804 | 70.64 | gold quality |
| apex of heart | UBERON:0002098 | 70.53 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6075 | yes | 166.62 |
| E-MTAB-9067 | yes | 11.15 |
| E-GEOD-106540 | no | 663.53 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
69 targeting P2RY8, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-378G | 99.71 | 64.90 | 1106 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-3934-5P | 99.67 | 64.04 | 846 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-888-3P | 99.53 | 69.77 | 1057 |
Literature-anchored findings (GeneRIF, showing 10)
- P2RY8 is expressed in leukemic cells and has an unexpected role in the pathogenesis of acute leukemia (PMID:17487742)
- SOX5 is upregulated by promoter swapping with the P2RY8 gene in primary splenic follicular lymphoma (PMID:17554380)
- Study reports an extremely high incidence of relapse (71% +/- 19%) in non-high-risk precursor B-cell acute lymphoblastic leukemia patients with P2RY8-CRLF2 rearrangement. (PMID:20378752)
- Poor prognosis for P2RY8-CRLF2 fusion but not for CRLF2 over-expression in children with intermediate risk B-cell precursor acute lymphoblastic leukemia. (PMID:22484421)
- P2RY8-CRLF2-positive clones do not have the necessary proliferative or selective advantage to evolve into a disease-relevant relapse clone. (PMID:23091296)
- P2RY8 promotes clustering of activated B cells within follicles in a follicular dendritic cell (FDC)-dependent manner. (PMID:26573295)
- P2RY8-CRLF2 fusion is associated with childhood B-cell acute lymphoblastic leukemia. (PMID:27637012)
- S-Geranylgeranyl-L-glutathione(GGG) is identified as an intercellular signalling molecule that is involved in organizing and controlling germinal-centre responses; as the P2RY8 locus is modified in several other types of cancer in addition to GCB-DLBCL and Burkitt lymphoma, GGG might have organizing and growth-regulatory roles in multiple human tissues (PMID:30842656)
- [Clinical Features and Prognosis of Acute Lymphoblastic Leukemia Children with P2RY8-CRLF2 Gene Rearrangement]. (PMID:33812392)
- P2RY8 variants in lupus patients uncover a role for the receptor in immunological tolerance. (PMID:34889940)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | p2ry8 | ENSDARG00000055560 |
Paralogs (16): P2RY10 (ENSG00000078589), GPR18 (ENSG00000125245), F2RL3 (ENSG00000127533), GPR55 (ENSG00000135898), LPAR6 (ENSG00000139679), GPR65 (ENSG00000140030), GPR17 (ENSG00000144230), LPAR4 (ENSG00000147145), CYSLTR2 (ENSG00000152207), F2RL2 (ENSG00000164220), F2RL1 (ENSG00000164251), CYSLTR1 (ENSG00000173198), GPR4 (ENSG00000177464), GPR35 (ENSG00000178623), F2R (ENSG00000181104), GPR20 (ENSG00000204882)
Protein
Protein identifiers
S-geranylgeranyl-glutathione receptor P2RY8 — Q86VZ1 (reviewed: Q86VZ1)
Alternative names: P2Y purinoceptor 8
All UniProt accessions (2): Q86VZ1, A0A1B0GUR3
UniProt curated annotations — full annotation on UniProt →
Function. G protein-coupled receptor for S-geranylgeranyl-glutathione (GGG), an endogenous metabolite present in lymphoid tissues. Couples the binding of GGG to the activation of GNA13 and downstream repression of AKT activation in lymphocytes defining their positioning and growth within lymphoid organs. In lymphoid follicles, confines B cells and follicular helper T cells in germinal centers (GCs) in response to GGG local gradients established by GGT5 (via GGG catabolism) and ABCC1 (via extracellular transport) with lower concentrations of GGG found in the follicular dendritic cell network region around which germinal centers are formed. In the bone marrow, also in response to GGG gradients established by GGT5 and ABCC1, it restricts chemotactic transmigration of B cells, T cells and NK cells from blood vessels to the bone marrow parenchyma. Contributes to GNA13-dependent pathway that suppresses GC B cell growth.
Subcellular location. Cell membrane.
Tissue specificity. Barely detectable in normal blood leukocytes. Weaker expression was seen in heart, kidney and lung. Not detected in brain. Expressed in B cells and follicular helper T cells in germinal centers (at protein level).
Induction. Down-regulated during granulocytic differentiation.
Miscellaneous. The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
Similarity. Belongs to the G-protein coupled receptor 1 family.
RefSeq proteins (8): NP_001411115, NP_001411116, NP_001411117, NP_001411118, NP_001411119, NP_001411120, NP_001411121, NP_835230* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000276 | GPCR_Rhodpsn | Family |
| IPR017452 | GPCR_Rhodpsn_7TM | Domain |
| IPR027669 | P2Y8_rcpt | Family |
Pfam: PF00001
UniProt features (25 total): topological domain 8, transmembrane region 7, mutagenesis site 6, glycosylation site 2, chain 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9ECJ | ELECTRON MICROSCOPY | 2.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86VZ1-F1 | 84.42 | 0.68 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (2): 5, 11
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 30 | loss of protein expression at the cell surface. |
| 163 | loss of protein expression at the cell surface. |
| 164 | loss of protein expression at the cell surface. |
| 205 | loss of protein expression at the cell surface. |
| 206 | loss of protein expression at the cell surface. |
| 290 | no effect on protein expression at the cell surface. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 49 (showing top):
GOBP_G_PROTEIN_COUPLED_PURINERGIC_NUCLEOTIDE_RECEPTOR_SIGNALING_PATHWAY, KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION, GOBP_PURINERGIC_NUCLEOTIDE_RECEPTOR_SIGNALING_PATHWAY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, MODULE_358, LEE_DIFFERENTIATING_T_LYMPHOCYTE, chrXp22, chrYp11, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, MODULE_525, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GOMF_NUCLEOTIDE_RECEPTOR_ACTIVITY, ARID5B_TARGET_GENES
GO Biological Process (5): G protein-coupled receptor signaling pathway (GO:0007186), Rho-activating G protein-coupled receptor signaling pathway (GO:0160221), signal transduction (GO:0007165), Rho protein signal transduction (GO:0007266), G protein-coupled purinergic nucleotide receptor signaling pathway (GO:0035589)
GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), G protein-coupled purinergic nucleotide receptor activity (GO:0045028)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| G protein-coupled receptor activity | 2 |
| G protein-coupled receptor signaling pathway | 2 |
| signal transduction | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| small GTPase-mediated signal transduction | 1 |
| purinergic nucleotide receptor signaling pathway | 1 |
| transmembrane signaling receptor activity | 1 |
| purinergic nucleotide receptor activity | 1 |
| G protein-coupled purinergic nucleotide receptor signaling pathway | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1384 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| P2RY8 | CRLF2 | Q9HC73 | 953 |
| P2RY8 | NEXMIF | Q5QGS0 | 853 |
| P2RY8 | JAK2 | O60674 | 741 |
| P2RY8 | IKZF1 | Q13422 | 730 |
| P2RY8 | PAX5 | Q02548 | 701 |
| P2RY8 | GNA13 | Q14344 | 688 |
| P2RY8 | EBF1 | Q9UH73 | 670 |
| P2RY8 | ASMTL | O95671 | 667 |
| P2RY8 | ETV6 | P41212 | 645 |
| P2RY8 | PHF6 | Q8IWS0 | 642 |
| P2RY8 | EPOR | P19235 | 628 |
| P2RY8 | CSF2RA | P15509 | 627 |
| P2RY8 | IGHV4-38-2 | P0DP08 | 622 |
| P2RY8 | TSLP | Q969D9 | 585 |
| P2RY8 | NUP214 | P35658 | 570 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RAMP1 | P2RY8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| P2RY8 | RAMP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| P2RY8 | RAMP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RAMP3 | P2RY8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RAMP2 | P2RY8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| P2RY8 | psi-mi:“MI:0914”(association) | 0.350 | |
| P2RY8 | GFAP | psi-mi:“MI:0914”(association) | 0.350 |
| P2RY8 | BTAF1 | psi-mi:“MI:0914”(association) | 0.350 |
| P2RY8 | CIT | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (218): ATP1A2 (Affinity Capture-MS), ATP1A4 (Affinity Capture-MS), GFAP (Affinity Capture-MS), ATP2B3 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), FANCD2 (Affinity Capture-MS), BRAT1 (Affinity Capture-MS), DNAAF5 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS), TUBA3C (Affinity Capture-MS), GNAZ (Affinity Capture-MS), ATM (Affinity Capture-MS), C1orf112 (Affinity Capture-MS), ND1 (Affinity Capture-MS), ERAP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A6I8PUB9, O00155, O00270, O14842, O14843, O15529, O43603, O46685, O60755, O88626, O88634, O88853, O88854, O88855, P0C5I1, P46092, P46093, P50132, Q149R9, Q15722, Q15743, Q1JQB3, Q3T181, Q3UFD7, Q3ZC80, Q4KLH9, Q6XKD3, Q76JU8, Q76JU9, Q76JV1, Q86VZ1, Q8BUD0, Q8BYC4, Q8HYC3, Q8K3T4, Q8TDS5, Q8TDU9, Q920E0, Q924U0, Q96G91
Diamond homologs: A5PLE7, B0UXR0, B5X337, D4A7K7, F1MV99, O08858, O35210, O35811, O77590, O88634, P11613, P21556, P25025, P25095, P25104, P25106, P26824, P29089, P29754, P29755, P30555, P30556, P30937, P30938, P31391, P32249, P32250, P32300, P33396, P33535, P34976, P35346, P35366, P35372, P35373, P35383, P41143, P41231, P41232, P42866
SIGNOR signaling
0 interactions.
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 4 cancer types — BL, DLBCLNOS, MLYM, NHL.
Clinical variants and AI predictions
ClinVar
16 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 800347 | NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg) | Likely pathogenic |
SpliceAI
796 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:1466581:CT:C | acceptor_gain | 1.0000 |
| X:1466581:CTCTG:C | acceptor_loss | 1.0000 |
| X:1466582:TC:T | acceptor_loss | 1.0000 |
| X:1466583:CT:C | acceptor_loss | 1.0000 |
| X:1536916:CTCA:C | donor_loss | 1.0000 |
| X:1536917:TCAC:T | donor_loss | 1.0000 |
| X:1536918:CAC:C | donor_loss | 1.0000 |
| X:1536920:C:A | donor_loss | 1.0000 |
| X:1466578:GGGCT:G | acceptor_gain | 0.9900 |
| X:1466579:GGCT:G | acceptor_gain | 0.9900 |
| X:1466580:GCT:G | acceptor_gain | 0.9900 |
| X:1466581:CTC:C | acceptor_gain | 0.9900 |
| X:1466582:TCT:T | acceptor_gain | 0.9900 |
| X:1466583:C:CC | acceptor_gain | 0.9900 |
| X:1466584:T:C | acceptor_loss | 0.9900 |
| X:1536915:GCTCA:G | donor_loss | 0.9900 |
| X:1536919:A:AC | donor_gain | 0.9800 |
| X:1536920:C:CC | donor_gain | 0.9800 |
| X:1466583:C:G | acceptor_gain | 0.9700 |
| X:1466586:C:CT | acceptor_gain | 0.9600 |
| X:1466587:A:T | acceptor_gain | 0.9500 |
| X:1511259:TC:T | donor_gain | 0.9300 |
| X:1511260:C:CT | donor_gain | 0.9200 |
| X:1511261:T:TT | donor_gain | 0.9200 |
| X:1467479:C:CT | donor_gain | 0.9100 |
| X:1468667:TTGT:T | acceptor_gain | 0.9100 |
| X:1483162:G:A | donor_gain | 0.9100 |
| X:1467427:A:AC | donor_gain | 0.9000 |
| X:1467428:C:CC | donor_gain | 0.9000 |
| X:1475558:G:T | acceptor_gain | 0.9000 |
AlphaMissense
4634 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| Y:1466031:G:C | F176L | 0.998 |
| Y:1466031:G:T | F176L | 0.998 |
| Y:1466033:A:G | F176L | 0.998 |
| Y:1466205:G:C | S118R | 0.998 |
| Y:1466205:G:T | S118R | 0.998 |
| Y:1466207:T:G | S118R | 0.998 |
| Y:1466292:C:A | W89C | 0.998 |
| Y:1466292:C:G | W89C | 0.998 |
| Y:1465713:G:C | S282R | 0.997 |
| Y:1465713:G:T | S282R | 0.997 |
| Y:1465715:T:G | S282R | 0.997 |
| Y:1465809:G:C | F250L | 0.997 |
| Y:1465809:G:T | F250L | 0.997 |
| Y:1465811:A:G | F250L | 0.997 |
| Y:1465953:G:C | F202L | 0.997 |
| Y:1465953:G:T | F202L | 0.997 |
| Y:1465955:A:G | F202L | 0.997 |
| Y:1465690:G:T | P290Q | 0.996 |
| Y:1465821:A:C | F246L | 0.996 |
| Y:1465821:A:T | F246L | 0.996 |
| Y:1465823:A:G | F246L | 0.996 |
| Y:1466029:T:A | D177V | 0.996 |
| Y:1466034:G:C | C175W | 0.996 |
| Y:1466035:C:T | C175Y | 0.996 |
| Y:1466272:C:G | C96S | 0.996 |
| Y:1466272:C:T | C96Y | 0.996 |
| Y:1466273:A:T | C96S | 0.996 |
| Y:1466361:G:C | S66R | 0.996 |
| Y:1466361:G:T | S66R | 0.996 |
| Y:1466363:T:G | S66R | 0.996 |
dbSNP variants (sampled 300 via entrez): RS10552339 (X:1480393 GTTTT>G,GT,GTT,GTTT,GTTTTT,GTTTTTT,GTTTTTTT), RS10563406 (X:1535726 CAG>C), RS10657765 (X:1504315 CAA>C,CA,CAAA,CAAAA,CAAAAA), RS10700341 (X:1497639 C>CAA), RS10715183 (X:1480296 CTTT>C,CT,CTT,CTTTT,CTTTTT), RS10715184 (X:1480516 TA>T), RS111065312 (X:1462110 C>T), RS111065313 (X:1472858 A>C,G), RS111065314 (X:1530414 C>A,T), RS111066038 (X:1473389 A>C,G,T), RS111161756 (X:1473080 G>A,C,T), RS111161757 (X:1473111 G>C), RS111161759 (X:1473177 A>C,G), RS111161760 (X:1473181 G>A,C), RS111161761 (X:1473591 A>G,T)
Disease associations
OMIM: gene MIM:300525 | disease phenotypes: MIM:254500
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| systemic lupus erythematosus | Moderate | Autosomal dominant |
Mondo (2): plasma cell myeloma (MONDO:0009693), systemic lupus erythematosus (MONDO:0007915)
Orphanet (2): Multiple myeloma (Orphanet:29073), AL amyloidosis (Orphanet:85443)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008180 | Lupus Erythematosus, Systemic | C17.300.480; C20.111.590 |
| D009101 | Multiple Myeloma | C04.557.595.500; C14.907.454.460; C15.378.147.780.650; C15.378.463.515.460; C20.683.515.845; C20.683.780.650 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523886 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: gpcr — Class A Orphans with emerging pharmacology
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Benzene | increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Nickel | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4883573 | Binding | PRESTO-Tango GPCRome screening (P2RY8) | Data for DCP probe UCSF924 |
Cellosaurus cell lines
2 cell lines: 1 cancer cell line, 1 spontaneously immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A085 | YCUB-5 | Cancer cell line | Male |
| CVCL_KY78 | PathHunter CHO-K1 P2RY8 beta-arrestin | Spontaneously immortalized cell line | Female |
Clinical trials (associated diseases)
600 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00120887 | PHASE4 | COMPLETED | Lupus Atherosclerosis Prevention Study |
| NCT00125307 | PHASE4 | COMPLETED | Tacrolimus for the Treatment of Systemic Lupus Erythematosus With Membranous Nephritis |
| NCT00188188 | PHASE4 | UNKNOWN | Study of Endothelial Dysfunction in Systemic Lupus and Its Role in Heart Disease |
| NCT00371501 | PHASE4 | COMPLETED | Aspirin and Statins for Prevention of Atherosclerosis and Arterial Thromboembolism in Systemic Lupus Erythematosus |
| NCT00392093 | PHASE4 | COMPLETED | Effect of Hormone Replacement Therapy on Lupus Activity |
| NCT00413361 | PHASE4 | COMPLETED | The Reduction of Systemic Lupus Erythematosus Flares :Study PLUS |
| NCT00508898 | PHASE4 | WITHDRAWN | The Efficacy and Safety of Calcitriol for the Treatment of Lupus Nephritis and Persistent Proteinuria |
| NCT00668330 | PHASE4 | COMPLETED | Steroid Induced Osteoporosis in Patients With Systemic Lupus Erythematosus |
| NCT00739050 | PHASE4 | TERMINATED | Effect of Simvastatin on Endothelial Function in Premenopausal Women With Systemic Lupus Erythematosus (0733-271)(TERMINATED) |
| NCT00815282 | PHASE4 | COMPLETED | Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease |
| NCT00828178 | PHASE4 | COMPLETED | Efficacy of Fish Oil in Lupus Patients |
| NCT00866229 | PHASE4 | UNKNOWN | Efficacy and Adverse Effect of Simvastatin Compare to Rosuvastatin in Systemic Lupus Erythematosus (SLE) Patients With Corticosteroid Therapy and High Low-Density Lipoprotein (LDL) Cholesterol Level |
| NCT00911521 | PHASE4 | COMPLETED | Immunogenicity and Safety of a Quadrivalent Human Papillomavirus (HPV) Vaccine in Patients With SLE: a Controlled Study |
| NCT01101802 | PHASE4 | COMPLETED | Mycophenolate Mofetil in Systemic Lupus Erythematosus (MISSILE) |
| NCT01112215 | PHASE4 | COMPLETED | Enteric-coated Mycophenolate Sodium Versus Azathioprine for the Extra-renal Lupus Manifestations |
| NCT01151644 | PHASE4 | UNKNOWN | Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases |
| NCT01276782 | PHASE4 | WITHDRAWN | Levothyroxine in Pregnant SLE Patients |
| NCT01322308 | PHASE4 | COMPLETED | Effect of Pioglitazone on Endothelial Function in Premenopausal Women With Uncomplicated Systemic Lupus Erythematosus |
| NCT01359826 | PHASE4 | WITHDRAWN | The Effect of Milnacipran on Fatigue and Quality of Life in Lupus Patients |
| NCT01597492 | PHASE4 | COMPLETED | A Study to Evaluate the Effect of Belimumab on Vaccine Responses in Subjects With Systemic Lupus Erythematosus (SLE) |
| NCT01632241 | PHASE4 | COMPLETED | Efficacy and Safety of Belimumab in Black Race Patients With Systemic Lupus Erythematosus (SLE) |
| NCT01705977 | PHASE4 | COMPLETED | Belimumab Assessment of Safety in SLE |
| NCT01753401 | PHASE4 | COMPLETED | Acthar for the Treatment of Systemic Lupus Erythematosus (SLE) in Patients With a History of Persistently Active Disease |
| NCT02270970 | PHASE4 | UNKNOWN | Evaluation of Belimumab Impact on a BLyS Activity Signature Test in the Absence of Confounding Polypharmacy |
| NCT02477150 | PHASE4 | COMPLETED | Safety and Immunogenicity of a Zoster Vaccine in SLE |
| NCT02741960 | PHASE4 | COMPLETED | The Effect of Metformin on Reducing Lupus Flares |
| NCT02779153 | PHASE4 | WITHDRAWN | Acthar SLE (Systemic Lupus Erythematosus) |
| NCT02953821 | PHASE4 | COMPLETED | Acthar Gel for Active Systemic Lupus Erythematosus (SLE) |
| NCT03042260 | PHASE4 | UNKNOWN | Prophylactic Trimethoprim/Sulfamethoxazole to Prevent Severe Infections in Patients With Lupus Erythematous |
| NCT03098823 | PHASE4 | COMPLETED | A Crossover Study to Compare RAYOS to IR Prednisone to Improve Fatigue and Morning Symptoms for SLE |
| NCT03122431 | PHASE4 | COMPLETED | Relevance of Monitoring Blood and Salivar Levels of Drugs Used in Rheumatic Autoimmune Diseases |
| NCT03543839 | PHASE4 | RECRUITING | Trial of Belimumab in Early Lupus |
| NCT04447053 | PHASE4 | UNKNOWN | Sequential Belimumab and T-cell Based Therapy in SLE |
| NCT04515719 | PHASE4 | COMPLETED | Efficacy and Safety of Belimumab in SLE Patients |
| NCT04893161 | PHASE4 | UNKNOWN | A Model About the Response of Belimumab in SLE |
| NCT04908865 | PHASE4 | COMPLETED | Open-label Study of Belimumab Plus Standard Therapy in Chinese Pediatric Participants With Active Systemic Lupus Erythematosus (SLE) |
| NCT04956484 | PHASE4 | COMPLETED | Belimumab In Early Systemic Lupus Erythematosus |
| NCT05559671 | PHASE4 | RECRUITING | Safety of the Herpes Zoster Subunit Vaccine in Lupus |
| NCT05666336 | PHASE4 | UNKNOWN | Multi-omics Studies on the Efficacy of Telitacicept in Chinese SLE Patients |
| NCT05748925 | PHASE4 | COMPLETED | Cardio Renal Effects of SGLT2 Inhibitors Among Lupus Nephritis Patients |
Related Atlas pages
- Associated diseases: systemic lupus erythematosus
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): plasma cell myeloma, systemic lupus erythematosus