ADGRG3
gene geneOn this page
Also known as Pb99PGR26
Summary
ADGRG3 (adhesion G protein-coupled receptor G3, HGNC:13728) is a protein-coding gene on chromosome 16q21, encoding Adhesion G protein-coupled receptor G3 (Q86Y34). Adhesion G-protein coupled receptor (aGPCR) for glucocorticoid hormones such as cortisol, cortisone and 11-deoxycortisol.
Predicted to enable G protein-coupled receptor activity. Involved in G protein-coupled receptor signaling pathway and regulation of cell migration. Located in plasma membrane.
Source: NCBI Gene 222487 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 112 total
- Druggable target: yes
- MANE Select transcript:
NM_170776
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13728 |
| Approved symbol | ADGRG3 |
| Name | adhesion G protein-coupled receptor G3 |
| Location | 16q21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Pb99, PGR26 |
| Ensembl gene | ENSG00000182885 |
| Ensembl biotype | protein_coding |
| OMIM | 618441 |
| Entrez | 222487 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 4 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000333493, ENST00000450388, ENST00000565579, ENST00000565902, ENST00000567991, ENST00000568245, ENST00000569977, ENST00000858859, ENST00000945139
RefSeq mRNA: 2 — MANE Select: NM_170776
NM_001308360, NM_170776
CCDS: CCDS10786, CCDS76879
Canonical transcript exons
ENST00000333493 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001299310 | 57683932 | 57684212 |
| ENSE00002604333 | 57668306 | 57668405 |
| ENSE00003458754 | 57680505 | 57680617 |
| ENSE00003484022 | 57678170 | 57678316 |
| ENSE00003501715 | 57679177 | 57679311 |
| ENSE00003517920 | 57676200 | 57676338 |
| ENSE00003571340 | 57688352 | 57689378 |
| ENSE00003574256 | 57673321 | 57673468 |
| ENSE00003607091 | 57679816 | 57679855 |
| ENSE00003627682 | 57680265 | 57680365 |
| ENSE00003639584 | 57685643 | 57685926 |
| ENSE00003666883 | 57684390 | 57684483 |
Expression profiles
Bgee: expression breadth ubiquitous, 163 present calls, max score 94.77.
FANTOM5 (CAGE): breadth broad, TPM avg 10.9430 / max 3584.3714, expressed in 233 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154415 | 7.4685 | 199 |
| 154414 | 3.4324 | 139 |
| 207901 | 0.0421 | 7 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 94.77 | gold quality |
| spleen | UBERON:0002106 | 89.39 | gold quality |
| granulocyte | CL:0000094 | 88.51 | gold quality |
| bone marrow | UBERON:0002371 | 88.06 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.33 | silver quality |
| right lung | UBERON:0002167 | 86.07 | gold quality |
| bone marrow cell | CL:0002092 | 85.94 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 84.89 | gold quality |
| upper lobe of lung | UBERON:0008948 | 82.48 | gold quality |
| left uterine tube | UBERON:0001303 | 80.10 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.95 | gold quality |
| periodontal ligament | UBERON:0008266 | 79.76 | gold quality |
| omental fat pad | UBERON:0010414 | 78.77 | gold quality |
| peritoneum | UBERON:0002358 | 78.67 | gold quality |
| vermiform appendix | UBERON:0001154 | 78.29 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 78.20 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 77.91 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 77.64 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 75.86 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 74.96 | gold quality |
| leukocyte | CL:0000738 | 74.07 | gold quality |
| thyroid gland | UBERON:0002046 | 73.89 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 73.62 | gold quality |
| monocyte | CL:0000576 | 72.79 | gold quality |
| caecum | UBERON:0001153 | 72.79 | gold quality |
| mononuclear cell | CL:0000842 | 72.72 | gold quality |
| small intestine | UBERON:0002108 | 71.51 | gold quality |
| gall bladder | UBERON:0002110 | 70.67 | gold quality |
| right lobe of liver | UBERON:0001114 | 69.92 | gold quality |
| lower esophagus | UBERON:0013473 | 69.37 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 32.51 |
| E-MTAB-9801 | yes | 8.23 |
| E-ANND-3 | yes | 8.15 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NFKB1, RELA
miRNA regulators (miRDB)
28 targeting ADGRG3, 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-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-7156-5P | 99.64 | 68.81 | 1369 |
| HSA-MIR-6861-3P | 99.60 | 68.46 | 444 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-4273 | 99.45 | 67.93 | 1206 |
| HSA-MIR-4721 | 99.26 | 66.05 | 818 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-760 | 98.81 | 66.65 | 1392 |
| HSA-MIR-2117 | 98.48 | 67.97 | 1307 |
| HSA-MIR-3664-3P | 97.85 | 67.62 | 1452 |
| HSA-MIR-3652 | 97.71 | 65.43 | 1890 |
| HSA-MIR-4430 | 97.47 | 65.61 | 1813 |
| HSA-MIR-4786-5P | 97.45 | 67.89 | 924 |
| HSA-MIR-1225-3P | 97.29 | 64.60 | 876 |
| HSA-MIR-4535 | 97.27 | 65.17 | 469 |
| HSA-MIR-4776-5P | 97.14 | 66.63 | 405 |
| HSA-MIR-4749-3P | 96.40 | 66.24 | 798 |
| HSA-MIR-9900 | 96.06 | 65.48 | 557 |
Literature-anchored findings (GeneRIF, showing 5)
- a possible role of GPR97 in lymphatic remodeling (PMID:24178298)
- Ligation of GPR97 increased the bacteria uptake. (PMID:30559745)
- Structures of the glucocorticoid-bound adhesion receptor GPR97-Go complex. (PMID:33408414)
- Curcumin activates G protein-coupled receptor 97 (GPR97) in a manner different from glucocorticoid. (PMID:35093639)
- GPR97 triggers inflammatory processes in human neutrophils via a macromolecular complex upstream of PAR2 activation. (PMID:36302784)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | adgrg1 | ENSDARG00000027222 |
| danio_rerio | ENSDARG00000110748 | |
| danio_rerio | ENSDARG00000114465 | |
| mus_musculus | Adgrg3 | ENSMUSG00000060470 |
| rattus_norvegicus | Adgrg3 | ENSRNOG00000014896 |
Paralogs (42): CALCR (ENSG00000004948), GIPR (ENSG00000010310), ADGRA2 (ENSG00000020181), CALCRL (ENSG00000064989), GLP2R (ENSG00000065325), ADGRF5 (ENSG00000069122), ADGRL1 (ENSG00000072071), ADCYAP1R1 (ENSG00000078549), SCTR (ENSG00000080293), VIPR2 (ENSG00000106018), CRHR2 (ENSG00000106113), GHRHR (ENSG00000106128), ADGRD1 (ENSG00000111452), GLP1R (ENSG00000112164), ADGRG6 (ENSG00000112414), VIPR1 (ENSG00000114812), ADGRL2 (ENSG00000117114), CRHR1 (ENSG00000120088), ADGRB2 (ENSG00000121753), ADGRE5 (ENSG00000123146), ADGRE2 (ENSG00000127507), ADGRE3 (ENSG00000131355), ADGRB3 (ENSG00000135298), PTH2R (ENSG00000144407), ADGRG7 (ENSG00000144820), ADGRL3 (ENSG00000150471), ADGRA3 (ENSG00000152990), ADGRF1 (ENSG00000153292), ADGRF4 (ENSG00000153294), ADGRG4 (ENSG00000156920), ADGRG5 (ENSG00000159618), PTH1R (ENSG00000160801), ADGRL4 (ENSG00000162618), EVA1C (ENSG00000166979), ADGRF3 (ENSG00000173567), ADGRG2 (ENSG00000173698), ADGRE1 (ENSG00000174837), ADGRD2 (ENSG00000180264), ADGRB1 (ENSG00000181790), ADGRA1 (ENSG00000197177)
Protein
Protein identifiers
Adhesion G protein-coupled receptor G3 — Q86Y34 (reviewed: Q86Y34)
Alternative names: G-protein coupled receptor 97
All UniProt accessions (4): Q86Y34, F8W8F7, H3BRU4, H3BS78
UniProt curated annotations — full annotation on UniProt →
Function. Adhesion G-protein coupled receptor (aGPCR) for glucocorticoid hormones such as cortisol, cortisone and 11-deoxycortisol. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase. ADGRG3/GPR97 is coupled to G(o)/GNAO1 G proteins and mediates signaling by inhibiting adenylate cyclase activity. May also signal through G-alpha(q)-proteins; additional evidence are however required to confirm this result in vivo. Plays a role in the regulation of various processes including B-cell development, inflammation or innate immunity. Regulates migration of lymphatic endothelial cells in vitro via the small GTPases RhoA and CDC42. Antibody ligation leads to the production and activation of antimicrobial mediators like reactive oxygen species (ROS) and myeloperoxidase (MPO) as well as enhanced bacteria uptake and killing by granulocytes. Additionally, collaborates with protease-activated receptor 2/PAR2 to stimulate neutrophil-driven antimicrobial responses and endothelial cell activation.
Subunit / interactions. Heterodimer of 2 chains generated by proteolytic processing; the large extracellular N-terminal fragment and the membrane-bound C-terminal fragment predominantly remain associated and non-covalently linked. Interacts with PRTN3; this interaction induces the activation of PAR2. Interacts with GNAO1 (when palmitoylated).
Subcellular location. Cell membrane.
Tissue specificity. Expressed in cultured primary dermal lymphatic endothelial cells. Highly expressed in polymorphonuclear cells (PMNs) including neutrophilic, eosinophilic, and basophilic granulocytes.
Post-translational modifications. Autoproteolytically processed at the GPS region of the GAIN-B domain; this cleavage modulates receptor activity. O- and N-glycosylated.
Activity regulation. Forms a heterodimer of 2 chains generated by proteolytic processing that remain associated through non-covalent interactions mediated by the GAIN-B domain. In the inactivated receptor, the Stachel sequence (also named stalk) is embedded in the GAIN-B domain, where it adopts a beta-strand conformation. On activation, the Stachel moves into the 7 transmembrane region and adopts a twisted hook-shaped configuration that forms contacts within the receptor, leading to coupling of a G-alpha protein, which activates signaling. The cleaved GAIN-B and N-terminal domains can then dissociate from the rest of the receptor.
Domain organisation. The Stachel sequence (also named stalk) in the C-terminal part of the extracellular domain (ECD) functions as a tethered agonist. In the inactivated receptor, the Stachel sequence (also named stalk) is embedded in the GAIN-B domain, where it adopts a beta-strand conformation. On activation, the Stachel moves into the 7 transmembrane region and adopts a twisted hook-shaped configuration that forms contacts within the receptor, leading to coupling of a G-alpha protein, which activates signaling.
Induction. Under inflammatory conditions.
Similarity. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
RefSeq proteins (2): NP_001295289, NP_740746* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000203 | GPS | Conserved_site |
| IPR000832 | GPCR_2_secretin-like | Family |
| IPR003910 | GPR1/GPR3/GPR5 | Family |
| IPR017981 | GPCR_2-like_7TM | Domain |
| IPR046338 | GAIN_dom_sf | Homologous_superfamily |
| IPR057244 | GAIN_B | Domain |
Pfam: PF00002, PF01825
UniProt features (73 total): strand 17, helix 15, topological domain 8, transmembrane region 7, sequence conflict 5, glycosylation site 4, turn 4, chain 3, disulfide bond 3, region of interest 2, signal peptide 1, domain 1, binding site 1, site 1, sequence variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7D77 | ELECTRON MICROSCOPY | 2.9 |
| 7D76 | ELECTRON MICROSCOPY | 3.1 |
| 7QU8 | X-RAY DIFFRACTION | 3.37 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86Y34-F1 | 80.48 | 0.40 |
Antibody-complex structures (SAbDab): 1 — 7D77
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 249–250 (cleavage; by autolysis)
Ligand- & substrate-binding residues (1): 510
Disulfide bonds (3): 215–244, 233–246, 338–420
Glycosylation sites (4): 98, 144, 210, 413
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 202 (showing top):
GSE45365_NK_CELL_VS_BCELL_DN, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_B_CELL_ACTIVATION, GOCC_SECRETORY_GRANULE, CEBPB_01, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_REGULATION_OF_NON_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_NON_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, MORI_PRE_BI_LYMPHOCYTE_UP, PU1_Q6, chr16q21, RYTTCCTG_ETS2_B, VDR_Q3
GO Biological Process (8): cell surface receptor signaling pathway (GO:0007166), G protein-coupled receptor signaling pathway (GO:0007186), adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway (GO:0007193), B cell differentiation (GO:0030183), regulation of cell migration (GO:0030334), obsolete negative regulation of CREB transcription factor activity (GO:0032792), negative regulation of non-canonical NF-kappaB signal transduction (GO:1901223), signal transduction (GO:0007165)
GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), transmembrane signaling receptor activity (GO:0004888), protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), membrane (GO:0016020), specific granule membrane (GO:0035579)
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 |
|---|---|
| signal transduction | 2 |
| G protein-coupled receptor activity | 1 |
| adenylate cyclase-modulating G protein-coupled receptor signaling pathway | 1 |
| adenylate cyclase inhibitor activity | 1 |
| lymphocyte differentiation | 1 |
| B cell activation | 1 |
| cell migration | 1 |
| regulation of cell motility | 1 |
| non-canonical NF-kappaB signal transduction | 1 |
| regulation of non-canonical NF-kappaB signal transduction | 1 |
| negative regulation of intracellular signal transduction | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| transmembrane signaling receptor activity | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| signaling receptor activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| secretory granule membrane | 1 |
| specific granule | 1 |
Protein interactions and networks
STRING
630 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ADGRG3 | GNAO1 | P09471 | 676 |
| ADGRG3 | ADGRA1 | Q86SQ6 | 612 |
| ADGRG3 | ADGRA3 | Q8IWK6 | 551 |
| ADGRG3 | ADGRG5 | Q8IZF4 | 378 |
| ADGRG3 | PSMD5 | Q16401 | 348 |
| ADGRG3 | ADGRA2 | Q96PE1 | 345 |
| ADGRG3 | ADGRF5 | Q8IZF2 | 331 |
| ADGRG3 | ADGRF2P | Q8IZF7 | 318 |
| ADGRG3 | ADGRG4 | Q8IZF6 | 307 |
| ADGRG3 | MCEMP1 | Q8IX19 | 304 |
| ADGRG3 | MCTP2 | Q6DN12 | 301 |
| ADGRG3 | ADGRV1 | Q8WXG9 | 301 |
| ADGRG3 | ADGRL1 | O94910 | 291 |
| ADGRG3 | ADGRF1 | Q5T601 | 287 |
| ADGRG3 | ADGRF4 | Q8IZF3 | 278 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LHFPL5 | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22A | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADGRG3 | ATP6V0B | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADGRG3 | ARLN | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADGRG3 | TEX264 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VSTM1 | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UPK2 | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TTMP | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADGRG3 | LHFPL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADGRG3 | GIMAP5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP1 | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADGRG3 | RPRM | psi-mi:“MI:0915”(physical association) | 0.560 |
| CTXN3 | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADGRG3 | SEC22A | psi-mi:“MI:0915”(physical association) | 0.560 |
| HRAS | IGKV2D-24 | psi-mi:“MI:0914”(association) | 0.350 |
| ARLN | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TEX264 | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| VSTM1 | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| UPK2 | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GIMAP5 | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PLP1 | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RPRM | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CTXN3 | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ATP6V0B | ADGRG3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (13): GPR97 (Two-hybrid), GPR97 (Two-hybrid), GPR97 (Two-hybrid), GPR97 (Two-hybrid), GPR97 (Two-hybrid), GPR97 (Two-hybrid), GPR97 (Two-hybrid), GPR97 (Two-hybrid), VSTM1 (Two-hybrid), GIMAP5 (Two-hybrid), LHFPL5 (Two-hybrid), CTXN3 (Two-hybrid), GPR97 (Proximity Label-MS)
ESM2 similar proteins: E7FBY6, O35674, O43184, P11688, P21463, P47750, P48960, P56495, Q06418, Q14246, Q27987, Q2Q421, Q2Q426, Q3V3Z3, Q49HI0, Q50DM5, Q50DM6, Q50DM7, Q50DM8, Q5SZV5, Q5Y4N8, Q61549, Q61824, Q6F3F9, Q7RTX1, Q7Z443, Q86Y34, Q8CJ11, Q8CJ12, Q8IZF5, Q8IZP9, Q8K209, Q8K3V3, Q8R0T6, Q8SPP9, Q8SQA4, Q90674, Q91ZE5, Q91ZV8, Q923K1
Diamond homologs: B7ZCC9, C6KFA3, G5ECX0, G5EDW2, O88917, O94910, O97817, O97827, O97831, Q2Q421, Q2Q426, Q3V3Z3, Q50DM5, Q50DM6, Q50DM7, Q50DM8, Q6F3F9, Q6QNK2, Q7SY09, Q80TR1, Q80TS3, Q86SQ3, Q86SQ4, Q86Y34, Q8CJ11, Q8CJ12, Q8IZF4, Q8IZF6, Q8IZP9, Q8JZZ7, Q8K209, Q8SQA4, Q923X1, Q9BY15, Q9ESC1, Q9HAR2, Q9HBW9, Q9HCU4, Q9QYP2, Q9R0M0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
112 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 90 |
| Likely benign | 13 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2147 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:57673316:CTTA:C | acceptor_loss | 1.0000 |
| 16:57673317:TTA:T | acceptor_loss | 1.0000 |
| 16:57673318:TA:T | acceptor_loss | 1.0000 |
| 16:57673319:A:AC | acceptor_loss | 1.0000 |
| 16:57673319:A:AG | acceptor_gain | 1.0000 |
| 16:57673320:G:GG | acceptor_gain | 1.0000 |
| 16:57673320:GGTCA:G | acceptor_gain | 1.0000 |
| 16:57673466:GAG:G | donor_gain | 1.0000 |
| 16:57673468:GGT:G | donor_loss | 1.0000 |
| 16:57673469:G:GA | donor_loss | 1.0000 |
| 16:57673470:T:G | donor_loss | 1.0000 |
| 16:57676334:CTCAG:C | donor_loss | 1.0000 |
| 16:57676335:TCAGG:T | donor_loss | 1.0000 |
| 16:57676336:CAGGT:C | donor_loss | 1.0000 |
| 16:57676337:AG:A | donor_loss | 1.0000 |
| 16:57676338:GG:G | donor_loss | 1.0000 |
| 16:57676339:GT:G | donor_loss | 1.0000 |
| 16:57678314:AAG:A | donor_loss | 1.0000 |
| 16:57678317:G:GA | donor_loss | 1.0000 |
| 16:57678318:T:G | donor_loss | 1.0000 |
| 16:57679175:AG:A | acceptor_gain | 1.0000 |
| 16:57679176:GG:G | acceptor_gain | 1.0000 |
| 16:57679312:G:GG | donor_gain | 1.0000 |
| 16:57680503:A:AG | acceptor_gain | 1.0000 |
| 16:57680504:G:GG | acceptor_gain | 1.0000 |
| 16:57680616:AGGTG:A | donor_loss | 1.0000 |
| 16:57680617:GGT:G | donor_loss | 1.0000 |
| 16:57680618:GT:G | donor_loss | 1.0000 |
| 16:57680619:T:A | donor_loss | 1.0000 |
| 16:57684479:GAGCT:G | donor_gain | 1.0000 |
AlphaMissense
3562 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:57680281:G:C | W228C | 0.992 |
| 16:57680281:G:T | W228C | 0.992 |
| 16:57679837:T:C | F217L | 0.990 |
| 16:57679839:C:A | F217L | 0.990 |
| 16:57679839:C:G | F217L | 0.990 |
| 16:57679842:G:C | W218C | 0.990 |
| 16:57679842:G:T | W218C | 0.990 |
| 16:57683993:A:C | S315R | 0.987 |
| 16:57683995:C:A | S315R | 0.987 |
| 16:57683995:C:G | S315R | 0.987 |
| 16:57680351:T:C | F252L | 0.982 |
| 16:57680353:C:A | F252L | 0.982 |
| 16:57680353:C:G | F252L | 0.982 |
| 16:57680279:T:A | W228R | 0.981 |
| 16:57680279:T:C | W228R | 0.981 |
| 16:57684209:T:A | W387R | 0.980 |
| 16:57684209:T:C | W387R | 0.980 |
| 16:57685926:G:C | G514R | 0.979 |
| 16:57685854:T:A | W490R | 0.978 |
| 16:57685854:T:C | W490R | 0.978 |
| 16:57679832:G:A | C215Y | 0.973 |
| 16:57684017:T:C | F323L | 0.973 |
| 16:57684019:C:A | F323L | 0.973 |
| 16:57684019:C:G | F323L | 0.973 |
| 16:57680352:T:G | F252C | 0.972 |
| 16:57685902:T:C | F506L | 0.970 |
| 16:57685904:T:A | F506L | 0.970 |
| 16:57685904:T:G | F506L | 0.970 |
| 16:57679289:T:G | F202C | 0.969 |
| 16:57684113:T:A | W355R | 0.969 |
dbSNP variants (sampled 300 via entrez): RS1000099356 (16:57672037 A>G), RS1000122903 (16:57664604 T>C), RS1000153912 (16:57664396 C>G,T), RS1000320039 (16:57669729 C>A,T), RS1000691433 (16:57685880 G>A), RS1001373925 (16:57664064 G>A), RS1001533262 (16:57674830 A>C), RS1001647753 (16:57674611 C>A), RS1001678744 (16:57674382 C>T), RS1001804175 (16:57680215 C>A,T), RS1001941228 (16:57685365 T>C), RS1001967300 (16:57685039 G>A), RS1002345429 (16:57665584 T>C), RS1002377907 (16:57665310 T>C), RS1002640119 (16:57682710 C>T)
Disease associations
OMIM: gene MIM:618441 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3559707 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: gpcr — Adhesion Class GPCRs
Most potent curated ligand interactions (1 total), top 1:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| beclometasone dipropionate | Full agonist | 8.5 | pEC50 |
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| GSK-J4 | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sulforaphane | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| cupric chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| abrine | increases expression | 1 |
| licochalcone B | decreases expression | 1 |
| bisphenol S | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Particulate Matter | increases 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 |
|---|---|---|---|
| CHEMBL4883475 | Binding | PRESTO-Tango GPCRome screening (GPR97) | Data for DCP probe UCSF924 |
Cellosaurus cell lines
1 cell lines: 1 spontaneously immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_KX79 | PathHunter CHO-K1 GPR97 beta-arrestin | Spontaneously immortalized cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Targeted by drugs: Beclomethasone Dipropionate