SGPP2
geneOn this page
Also known as SPP2FLJ39004
Summary
SGPP2 (sphingosine-1-phosphate phosphatase 2, HGNC:19953) is a protein-coding gene on chromosome 2q36.1, encoding Sphingosine-1-phosphate phosphatase 2 (Q8IWX5). Has specific phosphohydrolase activity towards sphingoid base 1-phosphates.
The protein encoded by this gene is a transmembrane protein that degrades the bioactive signaling molecule sphingosine 1-phosphate. The encoded protein is induced during inflammatory responses and has been shown to be downregulated by the microRNA-31 tumor suppressor. Alternative splice variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 130367 — RefSeq curated summary.
At a glance
- Gene–disease (curated): retinitis pigmentosa (Limited, GenCC)
- GWAS associations: 7
- Clinical variants (ClinVar): 265 total — 1 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 1
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_152386
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19953 |
| Approved symbol | SGPP2 |
| Name | sphingosine-1-phosphate phosphatase 2 |
| Location | 2q36.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SPP2, FLJ39004 |
| Ensembl gene | ENSG00000163082 |
| Ensembl biotype | protein_coding |
| OMIM | 612827 |
| Entrez | 130367 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000321276, ENST00000852416, ENST00000964571, ENST00000964572
RefSeq mRNA: 3 — MANE Select: NM_152386
NM_001320833, NM_001320834, NM_152386
CCDS: CCDS2453
Canonical transcript exons
ENST00000321276 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001071412 | 222524944 | 222525033 |
| ENSE00001242313 | 222558347 | 222562621 |
| ENSE00001242333 | 222424543 | 222424821 |
| ENSE00001363598 | 222521767 | 222521946 |
| ENSE00001684508 | 222474568 | 222474726 |
Expression profiles
Bgee: expression breadth ubiquitous, 226 present calls, max score 97.58.
FANTOM5 (CAGE): breadth broad, TPM avg 6.1114 / max 199.1813, expressed in 674 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 25613 | 1.6961 | 482 |
| 25604 | 1.3097 | 257 |
| 25605 | 0.7067 | 173 |
| 25612 | 0.4386 | 240 |
| 25606 | 0.3902 | 129 |
| 25614 | 0.3713 | 181 |
| 25609 | 0.3454 | 186 |
| 25607 | 0.2892 | 145 |
| 25615 | 0.1482 | 79 |
| 25608 | 0.1378 | 73 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 97.58 | gold quality |
| upper arm skin | UBERON:0004263 | 97.35 | gold quality |
| upper leg skin | UBERON:0004262 | 96.92 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 96.30 | gold quality |
| mammalian vulva | UBERON:0000997 | 96.19 | gold quality |
| gingival epithelium | UBERON:0001949 | 96.00 | gold quality |
| gingiva | UBERON:0001828 | 95.46 | gold quality |
| renal medulla | UBERON:0000362 | 95.01 | gold quality |
| nipple | UBERON:0002030 | 94.35 | gold quality |
| pancreatic ductal cell | CL:0002079 | 93.82 | silver quality |
| kidney epithelium | UBERON:0004819 | 93.60 | gold quality |
| colonic mucosa | UBERON:0000317 | 93.21 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 93.05 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 92.95 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 92.46 | gold quality |
| bronchial epithelial cell | CL:0002328 | 92.45 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.27 | gold quality |
| bronchus | UBERON:0002185 | 92.05 | gold quality |
| penis | UBERON:0000989 | 92.03 | gold quality |
| pons | UBERON:0000988 | 91.14 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 89.57 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 89.51 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 89.50 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 89.42 | gold quality |
| buccal mucosa cell | CL:0002336 | 89.37 | gold quality |
| trachea | UBERON:0003126 | 89.07 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 88.72 | gold quality |
| skin of hip | UBERON:0001554 | 88.57 | gold quality |
| duodenum | UBERON:0002114 | 88.52 | gold quality |
| jejunal mucosa | UBERON:0000399 | 87.97 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.15 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
109 targeting SGPP2, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-29B-2-5P | 99.67 | 68.98 | 1726 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 3)
- characterization of SPP2, another member of the SPP family that may play a role in attenuating intracellular S1P signaling. (PMID:12411432)
- This study provides detailed insights into the regulation of SPP2 gene expression and suggests that SPP2 might be a novel player in pro-inflammatory signalling. (PMID:17113265)
- SGPP2, a sphingosine-1-phosphate phosphatase, is a novel vitamin D-responsive gene associated with lung function. (PMID:24274704)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000079608 | |
| mus_musculus | Sgpp2 | ENSMUSG00000032908 |
| rattus_norvegicus | Sgpp2 | ENSRNOG00000069992 |
| drosophila_melanogaster | CG31717 | FBGN0051717 |
| caenorhabditis_elegans | WBGENE00020486 |
Paralogs (3): SGPP1 (ENSG00000126821), PLPP7 (ENSG00000160539), PLPP6 (ENSG00000205808)
Protein
Protein identifiers
Sphingosine-1-phosphate phosphatase 2 — Q8IWX5 (reviewed: Q8IWX5)
Alternative names: Sphingosine-1-phosphatase 2
All UniProt accessions (1): Q8IWX5
UniProt curated annotations — full annotation on UniProt →
Function. Has specific phosphohydrolase activity towards sphingoid base 1-phosphates. Has high phosphohydrolase activity against dihydrosphingosine-1-phosphate and sphingosine-1-phosphate (S1P) in vitro. Sphingosine-1-phosphate phosphatase activity is needed for efficient recycling of sphingosine into the sphingolipid synthesis pathway. May play a role in attenuating intracellular sphingosine 1-phosphate (S1P) signaling. May play a role in pro-inflammatory signaling. Plays a role in the regulation of pancreatic islet beta-cell endoplasmic reticulum stress and proliferation.
Subcellular location. Endoplasmic reticulum membrane.
Tissue specificity. Expressed strongly in kidney and heart, followed by brain, colon, small intestine and lung. Not detected in skeletal muscle, thymus, spleen, liver, placenta, and peripheral blood leukocytes.
Induction. Strongly induced by TNF, also induced by bacterial lipopolycaccharides (LPS) in neutrophils, endothelial cells, and other cell types. Not induced by growth-related factors.
Similarity. Belongs to the type 2 lipid phosphate phosphatase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IWX5-1 | 1 | yes |
| Q8IWX5-2 | 2 |
RefSeq proteins (3): NP_001307762, NP_001307763, NP_689599* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000326 | PAP2/HPO | Domain |
| IPR036938 | PAP2/HPO_sf | Homologous_superfamily |
Pfam: PF01569
Catalyzed reactions (Rhea), 3 shown:
- sphinganine 1-phosphate + H2O = sphinganine + phosphate (RHEA:27514)
- sphing-4-enine 1-phosphate + H2O = sphing-4-enine + phosphate (RHEA:27518)
- (4R)-hydroxysphinganine 1-phosphate + H2O = (4R)-hydroxysphinganine + phosphate (RHEA:33067)
UniProt features (17 total): transmembrane region 9, region of interest 3, active site 2, chain 1, site 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IWX5-F1 | 83.19 | 0.54 |
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 (3): 166 (proton donor); 213 (nucleophile); 217 (stabilizes the active site histidine for nucleophilic attack)
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-9845614 | Sphingolipid catabolism |
| R-HSA-1430728 | Metabolism |
| R-HSA-428157 | Sphingolipid metabolism |
| R-HSA-556833 | Metabolism of lipids |
MSigDB gene sets: 220 (showing top):
GOBP_LIPID_MODIFICATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOBP_PHOSPHOLIPID_DEPHOSPHORYLATION, GNF2_HPN, GOBP_POLYOL_METABOLIC_PROCESS, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_MEMBRANE_LIPID_CATABOLIC_PROCESS, GOBP_SPHINGOID_METABOLIC_PROCESS, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GNF2_LCAT, HSIAO_LIVER_SPECIFIC_GENES
GO Biological Process (5): sphingosine metabolic process (GO:0006670), sphingolipid catabolic process (GO:0030149), phospholipid dephosphorylation (GO:0046839), regulation of type B pancreatic cell proliferation (GO:0061469), lipid metabolic process (GO:0006629)
GO Molecular Function (3): sphingosine-1-phosphate phosphatase activity (GO:0042392), dihydrosphingosine-1-phosphate phosphatase activity (GO:0070780), hydrolase activity (GO:0016787)
GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Sphingolipid metabolism | 1 |
| Metabolism of lipids | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| diol metabolic process | 1 |
| sphingoid metabolic process | 1 |
| sphingolipid metabolic process | 1 |
| lipid catabolic process | 1 |
| dephosphorylation | 1 |
| lipid modification | 1 |
| type B pancreatic cell proliferation | 1 |
| regulation of epithelial cell proliferation | 1 |
| primary metabolic process | 1 |
| lipid phosphatase activity | 1 |
| phosphatase activity | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
686 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SGPP2 | SGPL1 | O95470 | 751 |
| SGPP2 | SPHK1 | Q9NYA1 | 701 |
| SGPP2 | SPHK2 | Q9NRA0 | 695 |
| SGPP2 | PLPP2 | O43688 | 657 |
| SGPP2 | UGCG | Q16739 | 608 |
| SGPP2 | SGMS1 | Q86VZ5 | 595 |
| SGPP2 | S1PR3 | Q99500 | 510 |
| SGPP2 | CERK | Q8TCT0 | 498 |
| SGPP2 | SPTLC1 | O15269 | 490 |
| SGPP2 | ASAH1 | Q13510 | 485 |
| SGPP2 | PLPP3 | O14495 | 482 |
| SGPP2 | PLPP1 | O14494 | 480 |
| SGPP2 | S1PR2 | O95136 | 480 |
| SGPP2 | ACER3 | Q9NUN7 | 478 |
| SGPP2 | ASAH2 | Q9NR71 | 471 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SGPP2 | PDLIM1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC15A2 | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A5 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A7 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A7 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A8 | CEBPZOS | psi-mi:“MI:0914”(association) | 0.350 |
| SLC6A12 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (8): PDLIM1 (Affinity Capture-MS), RNF185 (Affinity Capture-MS), SGPP2 (Affinity Capture-MS), SGPP2 (Affinity Capture-MS), SGPP2 (Affinity Capture-MS), SGPP2 (Affinity Capture-MS), SGPP2 (Affinity Capture-MS), SGPP2 (Affinity Capture-MS)
ESM2 similar proteins: A0A078H868, A0AAS4, A0JP80, A6X919, D4AD75, O70536, O77760, O77761, P23913, P35610, P53439, P56079, Q14739, Q20696, Q20735, Q28677, Q2PZI1, Q4JM44, Q4R763, Q5R7H4, Q5RK27, Q60457, Q61263, Q63632, Q63633, Q657W3, Q6AX73, Q6Z0E2, Q7T3T4, Q7TSX5, Q86VZ5, Q8IWX5, Q8NHU3, Q8VCQ6, Q91V14, Q924N4, Q965Q4, Q9D4B1, Q9FJB4, Q9H2X9
Diamond homologs: P42334, P75806, P80143, Q1MA49, Q2K2U9, Q57819, Q810K3, Q8IWX5, Q99P55, Q9BX95, Q9JI99, Q55A00, P23501, P47013
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
265 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 160 |
| Likely benign | 80 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 562666 | GRCh37/hg19 2q35-36.3(chr2:221439250-226170404)x1 | Pathogenic |
| 3027529 | NM_006944.3(SPP2):c.49_52dup (p.Phe18fs) | Likely pathogenic |
SpliceAI
1184 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:222424819:G:GT | donor_gain | 1.0000 |
| 2:222474563:TTTA:T | acceptor_loss | 1.0000 |
| 2:222474565:TA:T | acceptor_loss | 1.0000 |
| 2:222474566:A:AG | acceptor_gain | 1.0000 |
| 2:222474567:G:A | acceptor_loss | 1.0000 |
| 2:222474567:G:GG | acceptor_gain | 1.0000 |
| 2:222474722:GGGTT:G | donor_gain | 1.0000 |
| 2:222474723:GGTTG:G | donor_gain | 1.0000 |
| 2:222474724:GTT:G | donor_gain | 1.0000 |
| 2:222474725:TT:T | donor_gain | 1.0000 |
| 2:222474727:G:GG | donor_gain | 1.0000 |
| 2:222510934:G:GT | donor_gain | 1.0000 |
| 2:222521762:TGCAG:T | acceptor_loss | 1.0000 |
| 2:222521763:GCAG:G | acceptor_loss | 1.0000 |
| 2:222521764:CA:C | acceptor_loss | 1.0000 |
| 2:222521765:A:AG | acceptor_gain | 1.0000 |
| 2:222521765:AG:A | acceptor_loss | 1.0000 |
| 2:222521765:AGTT:A | acceptor_gain | 1.0000 |
| 2:222521765:AGTTG:A | acceptor_gain | 1.0000 |
| 2:222521766:G:GG | acceptor_gain | 1.0000 |
| 2:222521766:G:GT | acceptor_loss | 1.0000 |
| 2:222521766:GT:G | acceptor_gain | 1.0000 |
| 2:222521766:GTT:G | acceptor_gain | 1.0000 |
| 2:222521766:GTTG:G | acceptor_gain | 1.0000 |
| 2:222521766:GTTGG:G | acceptor_gain | 1.0000 |
| 2:222521944:CAGGT:C | donor_loss | 1.0000 |
| 2:222521947:G:GC | donor_loss | 1.0000 |
| 2:222521947:G:GG | donor_gain | 1.0000 |
| 2:222521948:T:G | donor_loss | 1.0000 |
| 2:222524939:CACAG:C | acceptor_loss | 1.0000 |
AlphaMissense
2557 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:222525001:A:C | S206R | 0.995 |
| 2:222525003:C:A | S206R | 0.995 |
| 2:222525003:C:G | S206R | 0.995 |
| 2:222521796:G:C | K136N | 0.993 |
| 2:222521796:G:T | K136N | 0.993 |
| 2:222525016:G:T | G211W | 0.992 |
| 2:222525002:G:T | S206I | 0.991 |
| 2:222424656:G:C | Q18H | 0.986 |
| 2:222424656:G:T | Q18H | 0.986 |
| 2:222474616:T:C | F90L | 0.985 |
| 2:222474618:C:A | F90L | 0.985 |
| 2:222474618:C:G | F90L | 0.985 |
| 2:222525005:G:C | R207T | 0.985 |
| 2:222525005:G:T | R207M | 0.985 |
| 2:222424667:G:A | G22E | 0.982 |
| 2:222525017:G:A | G211E | 0.982 |
| 2:222474679:T:A | W111R | 0.980 |
| 2:222474679:T:C | W111R | 0.980 |
| 2:222521879:C:A | S164Y | 0.980 |
| 2:222525017:G:T | G211V | 0.980 |
| 2:222525002:G:A | S206N | 0.979 |
| 2:222521815:C:A | R143S | 0.978 |
| 2:222521879:C:T | S164F | 0.977 |
| 2:222524995:T:C | C204R | 0.977 |
| 2:222525010:T:G | Y209D | 0.975 |
| 2:222521795:A:T | K136M | 0.974 |
| 2:222525006:G:C | R207S | 0.974 |
| 2:222525006:G:T | R207S | 0.974 |
| 2:222558567:G:A | G290E | 0.974 |
| 2:222558555:G:A | G286E | 0.973 |
dbSNP variants (sampled 300 via entrez): RS1000001077 (2:222529711 G>A), RS1000005376 (2:222453561 C>T), RS1000033695 (2:222530043 CAAT>C), RS1000034753 (2:222446092 A>C,G), RS1000043457 (2:222536702 T>A), RS1000075444 (2:222544261 T>C,G), RS1000085273 (2:222446385 G>A), RS1000094915 (2:222501242 A>C), RS1000097178 (2:222529498 C>A,T), RS1000119015 (2:222560939 C>A,T), RS1000156419 (2:222460345 C>T), RS1000188404 (2:222505733 A>G), RS1000246473 (2:222507110 T>C), RS1000248206 (2:222446204 A>C), RS1000256791 (2:222466733 T>C)
Disease associations
OMIM: gene MIM:612827 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| retinitis pigmentosa | Limited | Autosomal dominant |
Mondo (2): inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa (MONDO:0019200)
Orphanet (1): OBSOLETE: Inherited retinal disorder (Orphanet:71862)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000556 | Retinal dystrophy |
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000698_4 | Osteoporosis-related phenotypes | 5.000000e-07 |
| GCST001961_15 | Anorexia nervosa | 7.000000e-06 |
| GCST002812_2 | Schizophrenia (inflammation and infection response interaction) | 2.000000e-06 |
| GCST003478_1 | Hair greying | 7.000000e-06 |
| GCST003901_19 | Cognitive decline (age-related) | 6.000000e-06 |
| GCST006436_8 | Triglyceride levels | 1.000000e-09 |
| GCST007277_4 | Tourette syndrome | 3.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007050 | HSV1 seropositivity |
| EFO:0004530 | triglyceride measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D058499 | Retinal Dystrophies | C11.768.585.658 |
| D012174 | Retinitis Pigmentosa | C11.270.684; C11.768.585.658.500; C16.320.290.684 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — Sphingosine 1-phosphate phosphatase
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects cotreatment | 4 |
| Particulate Matter | increases abundance, increases expression, affects cotreatment, decreases expression | 3 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Lipopolysaccharides | increases expression, affects response to substance, affects cotreatment | 2 |
| Aflatoxin B1 | decreases methylation | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| propionaldehyde | increases expression | 1 |
| lead acetate | decreases expression | 1 |
| decabromobiphenyl ether | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| 2,4,5,2’,4’,5’-hexachlorobiphenyl | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| mercuric bromide | affects cotreatment, increases expression | 1 |
| pentanal | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
Clinical trials (associated diseases)
259 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00717080 | PHASE4 | COMPLETED | The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction |
| NCT00000114 | PHASE3 | COMPLETED | Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa |
| NCT00000116 | PHASE3 | COMPLETED | Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A |
| NCT00346333 | PHASE3 | COMPLETED | Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A |
| NCT01786395 | PHASE3 | TERMINATED | Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa |
| NCT04224207 | PHASE3 | COMPLETED | Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells |
| NCT04636853 | PHASE3 | COMPLETED | CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration |
| NCT05537220 | PHASE3 | ACTIVE_NOT_RECRUITING | Oral N-acetylcysteine for Retinitis Pigmentosa |
| NCT05800301 | PHASE3 | COMPLETED | Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision |
| NCT05926583 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa |
| NCT06388200 | PHASE3 | ACTIVE_NOT_RECRUITING | A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa |
| NCT07082855 | PHASE3 | NOT_YET_RECRUITING | A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa |
| NCT07290530 | PHASE3 | NOT_YET_RECRUITING | 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome |
| NCT00100230 | PHASE2 | COMPLETED | DHA and X-Linked Retinitis Pigmentosa |
| NCT00447980 | PHASE2 | COMPLETED | A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa |
| NCT00447993 | PHASE2 | COMPLETED | A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa |
| NCT01233609 | PHASE2 | COMPLETED | Trial of Oral Valproic Acid for Retinitis Pigmentosa |
| NCT01399515 | PHASE2 | COMPLETED | Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa |
| NCT01530659 | PHASE2 | COMPLETED | Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa |
| NCT01560715 | PHASE2 | COMPLETED | Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa |
| NCT02609165 | PHASE2 | COMPLETED | Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema |
| NCT02661711 | PHASE2 | COMPLETED | Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study |
| NCT02804360 | PHASE2 | UNKNOWN | Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study |
| NCT02837640 | PHASE2 | UNKNOWN | Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa |
| NCT03073733 | PHASE2 | COMPLETED | Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa |
| NCT04068207 | PHASE2 | COMPLETED | Minocycline Treatment in Retinitis Pigmentosa |
| NCT04356716 | PHASE2 | COMPLETED | Sildenafil for Treatment of Choroidal Ischemia |
| NCT04604899 | PHASE2 | COMPLETED | Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa |
| NCT04763369 | PHASE2 | UNKNOWN | Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP) |
| NCT04864496 | PHASE2 | UNKNOWN | Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa |
| NCT04945772 | PHASE2 | COMPLETED | Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE] |
| NCT05085964 | PHASE2 | TERMINATED | An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa |
| NCT05392179 | PHASE2 | COMPLETED | A Study in Subjects With Retinitis Pigmentosa |
| NCT06627179 | PHASE2 | RECRUITING | Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene |
| NCT06628947 | PHASE2 | RECRUITING | A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa |
| NCT06912633 | PHASE2 | RECRUITING | Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP) |
| NCT03763227 | PHASE2 | COMPLETED | Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy |
| NCT00063765 | PHASE1 | COMPLETED | Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye |
| NCT00065455 | PHASE1 | COMPLETED | Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa |
| NCT00458575 | PHASE1 | TERMINATED | A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa |
Related Atlas pages
- Associated diseases: retinitis pigmentosa 1
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): osteoporosis, retinitis pigmentosa