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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SLCO2A1
solute carrier organic anion transporter family member 2A1
Chromosome 3 · 3q22.1-q22.2
NCBI Gene: 6578Ensembl: ENSG00000174640.16HGNC: HGNC:10955UniProt: Q92959
64PubMed Papers
22Diseases
0Drugs
61Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
basal plasma membranesecondary active transmembrane transporter activityprostaglandin transportsodium-independent organic anion transportPachydermoperiostosisprimary hypertrophic osteoarthropathycolorectal cancerhypertension, pregnancy-induced
✦AI Summary

SLCO2A1 encodes a prostaglandin transporter (PGT) that mediates cellular uptake of prostaglandins (primarily PGE2, PGF2α, PGD2) and thromboxanes across the plasma membrane 1. The transporter uses lactate as a counter-substrate to facilitate prostaglandin influx and efflux through secondary active transport 1. Recent cryo-EM structures reveal that PGE2 binds in the central cavity through specific interactions with conserved residues, establishing the structural basis for substrate recognition 2. SLCO2A1 regulates prostaglandin signaling by clearing these lipid mediators from circulation through cellular uptake, enabling cytoplasmic oxidation and signal termination 1. In epithelial tissues, apically expressed SLCO2A1 facilitates transcellular transport, with particularly important roles in renal sodium balance and reproductive function 1. Beyond prostaglandin transport, SLCO2A1 functions as a core component of the Maxi-Cl anion channel, regulating ATP and glutamate release 3. Loss-of-function mutations cause two autosomal recessive disorders: primary hypertrophic osteoarthropathy (PHO), characterized by elevated PGE2 levels leading to clubbing and periostosis 4, and chr3 enteropathy associated with SLCO2A1 (CEAS), marked by small intestinal ulceration due to impaired prostaglandin clearance and subsequent barrier dysfunction 5. SLCO2A1 represents a therapeutic target for conditions including diabetic foot ulcers and fever 1.

Sources cited
1
Cryo-EM structures of SLCO2A1 revealing PGE2 binding mechanism and structural basis for prostaglandin recognition and transport
PMID: 40885756
2
Comprehensive review of SLCO2A1 as prostaglandin transporter with 12 transmembrane domains, lactate-dependent mechanism, and roles in PHO and CEAS
PMID: 33465398
3
SLCO2A1 as core component of Maxi-Cl anion channel for ATP release
PMID: 29534490
4
SLCO2A1 mutations in primary hypertrophic osteoarthropathy causing impaired PGE2 degradation and elevated PGE2 levels
PMID: 37705574
5
SLCO2A1 dysfunction in CEAS leading to elevated PGE2 levels contributing to small intestinal ulceration and barrier disruption
PMID: 38817656
6
Novel SLCO2A1 variant demonstrating defective splicing and reduced mRNA levels in CEAS with primary hypertrophic osteoarthropathy
PMID: 38862970
Disease Associationsⓘ22
PachydermoperiostosisOpen Targets
0.84Strong
primary hypertrophic osteoarthropathyOpen Targets
0.51Moderate
colorectal cancerOpen Targets
0.49Moderate
hypertension, pregnancy-inducedOpen Targets
0.33Weak
colorectal adenomaOpen Targets
0.29Weak
male reproductive organ cancerOpen Targets
0.28Weak
poisoningOpen Targets
0.28Weak
Alzheimer diseaseOpen Targets
0.27Weak
lysosomal storage diseaseOpen Targets
0.26Weak
multiple sclerosisOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.26Weak
Parkinson diseaseOpen Targets
0.26Weak
response to antibioticOpen Targets
0.26Weak
blood vessel replacementOpen Targets
0.25Weak
Abnormality of the immune systemOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
squamous cell carcinomaOpen Targets
0.18Weak
hypertensionOpen Targets
0.10Suggestive
infectionOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
Hypertrophic osteoarthropathy, primary, autosomal dominantUniProt
PHOAR2-enteropathy syndromeUniProt
Pathogenic Variants61
NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|Hypertrophic osteoarthropathy, primary, autosomal dominant|not provided
★★☆☆2025→ Residue 603
NM_005630.3(SLCO2A1):c.1771C>T (p.Arg591Ter)Pathogenic
not provided|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
★★☆☆2025→ Residue 591
NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided
★★☆☆2025→ Residue 183
NM_005630.3(SLCO2A1):c.1259G>T (p.Cys420Phe)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided
★★☆☆2025→ Residue 420
NM_005630.3(SLCO2A1):c.290G>A (p.Arg97His)Likely pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided
★★☆☆2025→ Residue 97
NM_005630.3(SLCO2A1):c.940+1G>APathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided|Hepatocellular carcinoma
★★☆☆2022
NM_005630.3(SLCO2A1):c.1022del (p.Val341fs)Pathogenic
not provided
★☆☆☆2025→ Residue 341
NM_005630.3(SLCO2A1):c.764G>A (p.Gly255Glu)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided
★☆☆☆2025→ Residue 255
NM_005630.3(SLCO2A1):c.1688T>G (p.Leu563Arg)Likely pathogenic
not provided
★☆☆☆2025→ Residue 563
NM_005630.3(SLCO2A1):c.1660G>A (p.Gly554Arg)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal dominant|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided
★☆☆☆2025→ Residue 554
NC_000003.12:g.133743825_133749853delLikely pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
★☆☆☆2025
NM_005630.3(SLCO2A1):c.664G>A (p.Gly222Arg)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|Hypertrophic osteoarthropathy, primary, autosomal dominant|not provided|Cervical cancer
★☆☆☆2025→ Residue 222
NM_005630.3(SLCO2A1):c.310G>A (p.Gly104Arg)Pathogenic
not provided|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
★☆☆☆2025→ Residue 104
NM_005630.3(SLCO2A1):c.830dup (p.Phe278fs)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided
★☆☆☆2025→ Residue 278
NM_005630.3(SLCO2A1):c.1016C>T (p.Ser339Phe)Likely pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
★☆☆☆2024→ Residue 339
NM_005630.3(SLCO2A1):c.1634del (p.Asn545fs)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided
★☆☆☆2024→ Residue 545
NM_005630.3(SLCO2A1):c.1183C>T (p.Gln395Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 395
NM_005630.3(SLCO2A1):c.1106G>A (p.Gly369Asp)Pathogenic
not provided|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
★☆☆☆2024→ Residue 369
NM_005630.3(SLCO2A1):c.1149del (p.Gly384fs)Likely pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
★☆☆☆2024→ Residue 384
NM_005630.3(SLCO2A1):c.1069T>C (p.Tyr357His)Likely pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
★☆☆☆2024→ Residue 357
View on ClinVar ↗
Related Genes
ITIH4Protein interaction88%HPGDProtein interaction79%SLCO4A1Shared pathway50%SLC22A7Shared pathway33%SLCO2B1Shared pathway33%SLCO4C1Shared pathway33%
Tissue Expression6 tissues
Lung
100%
Heart
19%
Ovary
4%
Liver
3%
Brain
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SLCO2A1ITIH4HPGDSLCO4A1SLC22A7SLCO2B1SLCO4C1
PROTEIN STRUCTURE
Preparing viewer…
PDB3MRR · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.68–1.04]
RankingsWhere SLCO2A1 stands among ~20K protein-coding genes
  • #7,317of 20,598
    Most Researched64
  • #1,156of 5,498
    Most Pathogenic Variants61 · top quartile
  • #10,294of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedSLCO2A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structure and transport mechanism of the human prostaglandin transporter SLCO2A1.
PMID: 40885756
Nat Commun · 2025
1.00
2
Pathogenesis of chronic enteropathy associated with the
PMID: 38817656
World J Gastroenterol · 2024
0.90
3
ATP Release Channels.
PMID: 29534490
Int J Mol Sci · 2018
0.80
4
Integrated Skin Transcriptomics and Serum Multiplex Assays Reveal Novel Mechanisms of Wound Healing in Diabetic Foot Ulcers.
PMID: 32763913
Diabetes · 2020
0.70
5
Chronic enteropathy associated with SLCO2A1 gene: A case report and literature review.
PMID: 31196708
Clin Res Hepatol Gastroenterol · 2019
0.60