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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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OXGR1
oxoglutarate receptor 1
Chromosome 13 · 13q32.1
NCBI Gene: 27199Ensembl: ENSG00000165621.10HGNC: HGNC:4531UniProt: Q96P68
25PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
G protein-coupled receptor activityprotein bindingphospholipase C-activating G protein-coupled receptor signaling pathwayplasma membranenephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosisneurodegenerative diseaseimmune system diseaseresponse to xenobiotic stimulus
✦AI Summary

OXGR1 is a G protein-coupled receptor that serves as a metabolite sensor for dicarboxylates, particularly α-ketoglutarate (α-KG) and the inflammatory mediator leukotriene E4 (LTE4) 1. The receptor recognizes α-KG through a bipartite-acid pocket with primary and accessory binding sites, while LTE4 binds at a distinct site between transmembrane domains 3-5 1. Both ligands activate OXGR1 primarily through Gq signaling, with LTE4 additionally inducing Gi activation 1. OXGR1 functions in multiple physiological contexts. In the distal nephron, α-KG-stimulated OXGR1 activates pendrin-expressing intercalated cells to drive electroneutral NaCl reabsorption and bicarbonate secretion during metabolic alkalosis 2. In respiratory epithelium, itaconate binding to OXGR1 triggers intracellular Ca2+ release supporting mucociliary clearance [UniProt summary]. LTE4 activation induces mucin release from pulmonary epithelium in response to fungal allergens [UniProt summary]. Loss-of-function OXGR1 variants are associated with calcium oxalate nephrolithiasis and nephrocalcinosis, with six deleterious missense variants identified in unrelated families demonstrating impaired α-KG-dependent calcium uptake 3. Recently, α-KG/OXGR1 signaling in vascular smooth muscle was identified as therapeutic target for rosacea erythema through promotion of vascular contraction 4. Additionally, tumor-derived α-KG activating OXGR1 on macrophages promotes immune escape in cholangiocarcinoma 5.

Sources cited
1
OXGR1 recognizes α-ketoglutarate and LTE4 through distinct binding pockets; both activate Gq signaling with LTE4 also inducing Gi activation
PMID: 41413034
2
Rare, dominant loss-of-function OXGR1 variants cause calcium oxalate nephrolithiasis and nephrocalcinosis through impaired α-KG-dependent calcium uptake
PMID: 36571463
3
OXGR1 activation by α-KG in pendrin-positive intercalated cells drives electroneutral NaCl reabsorption and bicarbonate secretion
PMID: 28771454
4
α-KG activates OXGR1 in vascular smooth muscle to enhance contraction and limit vasodilation, relevant to rosacea treatment
PMID: 41791372
5
Tumor-derived α-KG activates OXGR1 on macrophages to suppress antigen presentation and promote immune escape
PMID: 40180922
Disease Associationsⓘ21
nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosisOpen Targets
0.62Moderate
neurodegenerative diseaseOpen Targets
0.33Weak
immune system diseaseOpen Targets
0.32Weak
poisoningOpen Targets
0.26Weak
response to xenobiotic stimulusOpen Targets
0.26Weak
Abruptio PlacentaeOpen Targets
0.17Weak
Abnormality of the skeletal systemOpen Targets
0.09Suggestive
response to stimulusOpen Targets
0.08Suggestive
liver diseaseOpen Targets
0.07Suggestive
schizophreniaOpen Targets
0.06Suggestive
vascular diseaseOpen Targets
0.06Suggestive
alcohol drinkingOpen Targets
0.06Suggestive
Benign Thyroid Gland NeoplasmOpen Targets
0.06Suggestive
pentosuriaOpen Targets
0.05Suggestive
Mandibular prognathiaOpen Targets
0.05Suggestive
hypersulfaturiaOpen Targets
0.05Suggestive
colorectal adenocarcinomaOpen Targets
0.04Suggestive
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosisOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
primary hyperoxaluria type 3Open Targets
0.04Suggestive
Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosisUniProt
Pathogenic Variants4
NM_001346194.2(OXGR1):c.371T>G (p.Leu124Arg)Likely pathogenic
Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis
★☆☆☆2024→ Residue 124
NM_001346194.2(OXGR1):c.136G>A (p.Val46Met)Likely pathogenic
Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis
☆☆☆☆2024→ Residue 46
NM_001346194.2(OXGR1):c.166del (p.Ser56fs)Pathogenic
Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis
☆☆☆☆2023→ Residue 56
NM_001346194.2(OXGR1):c.649T>C (p.Cys217Arg)Pathogenic
Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis
☆☆☆☆2023→ Residue 217
View on ClinVar ↗
Related Genes
TRHRShared pathway100%ALDH18A1Protein interaction74%CCKARShared pathway50%GPR142Shared pathway50%GPR139Shared pathway50%MRGPRX3Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Lung
64%
Ovary
21%
Heart
19%
Bone Marrow
5%
Liver
0%
Gene Interaction Network
Click a node to explore
OXGR1TRHRALDH18A1CCKARGPR142GPR139MRGPRX3
PROTEIN STRUCTURE
Preparing viewer…
PDB8YYX · 2.84 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.50LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.00 [0.69–1.50]
RankingsWhere OXGR1 stands among ~20K protein-coding genes
  • #13,033of 20,598
    Most Researched25
  • #3,844of 5,498
    Most Pathogenic Variants4
  • #15,195of 17,882
    Most Constrained (LOEUF)1.50
Genes detectedOXGR1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cholangiocarcinoma PDHA1 succinylation suppresses macrophage antigen presentation via alpha-ketoglutaric acid accumulation.
PMID: 40180922
Nat Commun · 2025
1.00
2
Metabolite-gated vascular contractility switch: OXGR1 activation mechanism enables agonist therapy for rosacea erythema.
PMID: 41791372
Cell · 2026
0.90
3
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
PMID: 36571463
Genet Med · 2023
0.80
4
Cysteinyl Leukotrienes in Allergic Inflammation.
PMID: 39374430
Annu Rev Pathol · 2025
0.70
5
Molecular insights into ligand recognition and signaling of OXGR1.
PMID: 41413034
Nat Commun · 2025
0.60