PTPRO
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Also known as PTPU2GLEPP1PTP-U2PTP-ocNPHS6
Summary
PTPRO (protein tyrosine phosphatase receptor type O, HGNC:9678) is a protein-coding gene on chromosome 12p12.3, encoding Receptor-type tyrosine-protein phosphatase O (Q16827). Possesses tyrosine phosphatase activity.
This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer.
Source: NCBI Gene 5800 — RefSeq curated summary.
At a glance
- Gene–disease (curated): nephrotic syndrome, type 6 (Strong, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 527 total — 5 pathogenic, 5 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_030667
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9678 |
| Approved symbol | PTPRO |
| Name | protein tyrosine phosphatase receptor type O |
| Location | 12p12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6 |
| Ensembl gene | ENSG00000151490 |
| Ensembl biotype | protein_coding |
| OMIM | 600579 |
| Entrez | 5800 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 12 protein_coding, 8 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined, 3 retained_intron
ENST00000281171, ENST00000348962, ENST00000442921, ENST00000445537, ENST00000535311, ENST00000535322, ENST00000538907, ENST00000542557, ENST00000543886, ENST00000544244, ENST00000544706, ENST00000545023, ENST00000674186, ENST00000674188, ENST00000674220, ENST00000674261, ENST00000674286, ENST00000674316, ENST00000674352, ENST00000674354, ENST00000674385, ENST00000674388, ENST00000674391, ENST00000674392, ENST00000674434, ENST00000674483, ENST00000866319
RefSeq mRNA: 6 — MANE Select: NM_030667
NM_002848, NM_030667, NM_030668, NM_030669, NM_030670, NM_030671
CCDS: CCDS44837, CCDS53754, CCDS8674, CCDS8675
Canonical transcript exons
ENST00000281171 — 27 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000999881 | 15515498 | 15515618 |
| ENSE00000999885 | 15520201 | 15520312 |
| ENSE00001122204 | 15483974 | 15484247 |
| ENSE00001147141 | 15516763 | 15516956 |
| ENSE00001147146 | 15508571 | 15508767 |
| ENSE00001147152 | 15503908 | 15504069 |
| ENSE00001147160 | 15501620 | 15502063 |
| ENSE00001147165 | 15499442 | 15499594 |
| ENSE00001147171 | 15497245 | 15497403 |
| ENSE00001696478 | 15589455 | 15589590 |
| ENSE00001712330 | 15586897 | 15587051 |
| ENSE00001714929 | 15581679 | 15581801 |
| ENSE00001744436 | 15551551 | 15551671 |
| ENSE00001764566 | 15560193 | 15560276 |
| ENSE00001769993 | 15594937 | 15595057 |
| ENSE00001777401 | 15526142 | 15526262 |
| ENSE00001781585 | 15580697 | 15580831 |
| ENSE00001791853 | 15546569 | 15546708 |
| ENSE00002241549 | 15524814 | 15524965 |
| ENSE00002302613 | 15322508 | 15322801 |
| ENSE00003477622 | 15549094 | 15549226 |
| ENSE00003581969 | 15578853 | 15578943 |
| ENSE00003583302 | 15580039 | 15580115 |
| ENSE00003607490 | 15565593 | 15565628 |
| ENSE00003634363 | 15557455 | 15557523 |
| ENSE00003684068 | 15569417 | 15569498 |
| ENSE00003845713 | 15596090 | 15598331 |
Expression profiles
Bgee: expression breadth ubiquitous, 214 present calls, max score 98.36.
FANTOM5 (CAGE): breadth broad, TPM avg 3.3795 / max 238.0984, expressed in 522 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 124488 | 0.7247 | 163 |
| 124492 | 0.6656 | 225 |
| 124491 | 0.4918 | 152 |
| 124493 | 0.4380 | 139 |
| 124484 | 0.4324 | 132 |
| 124489 | 0.4279 | 128 |
| 124486 | 0.0771 | 38 |
| 124483 | 0.0660 | 39 |
| 124485 | 0.0291 | 12 |
| 124487 | 0.0270 | 8 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| renal glomerulus | UBERON:0000074 | 98.36 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 98.22 | gold quality |
| cortical plate | UBERON:0005343 | 97.38 | gold quality |
| rectum | UBERON:0001052 | 93.71 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.25 | gold quality |
| kidney epithelium | UBERON:0004819 | 87.83 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.39 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 86.50 | gold quality |
| ventricular zone | UBERON:0003053 | 84.92 | gold quality |
| nucleus accumbens | UBERON:0001882 | 84.84 | gold quality |
| prefrontal cortex | UBERON:0000451 | 84.15 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 83.76 | gold quality |
| metanephros | UBERON:0000081 | 83.55 | gold quality |
| kidney | UBERON:0002113 | 83.55 | gold quality |
| cortex of kidney | UBERON:0001225 | 82.91 | gold quality |
| monocyte | CL:0000576 | 82.54 | gold quality |
| colonic epithelium | UBERON:0000397 | 82.38 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 82.34 | gold quality |
| mononuclear cell | CL:0000842 | 82.06 | gold quality |
| leukocyte | CL:0000738 | 82.05 | gold quality |
| granulocyte | CL:0000094 | 81.63 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 81.46 | gold quality |
| calcaneal tendon | UBERON:0003701 | 81.36 | gold quality |
| endothelial cell | CL:0000115 | 81.32 | gold quality |
| frontal cortex | UBERON:0001870 | 81.04 | gold quality |
| frontal lobe | UBERON:0016525 | 81.02 | gold quality |
| neocortex | UBERON:0001950 | 80.96 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 80.66 | gold quality |
| thoracic aorta | UBERON:0001515 | 80.63 | gold quality |
| ascending aorta | UBERON:0001496 | 80.60 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-131882 | yes | 9874.95 |
| E-CURD-119 | yes | 9566.57 |
| E-GEOD-114530 | yes | 2043.25 |
| E-CURD-135 | yes | 1441.69 |
| E-HCAD-10 | yes | 1398.09 |
| E-HCAD-35 | yes | 89.47 |
| E-GEOD-125970 | yes | 21.56 |
| E-ANND-3 | yes | 6.08 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
111 targeting PTPRO, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
Literature-anchored findings (GeneRIF, showing 37)
- conclude that an intronic promoter within the protein tyrosine phosphatase, receptor type(GLEPP1) gene drives the expression of the protein tyrosine phosphatase-osteoclast(PTP) in a cell type-specific manner (PMID:12949066)
- overexpression of PTPROt inhibited BCR-triggered SYK tyrosyl phosphorylation, activation of the associated adaptor proteins SHC and BLNK, and downstream signaling events, and inhibition lymphoma cell proliferation and inducion of lymphoma cell apoptosis (PMID:16888096)
- PTPRO methylation and silencing has a role in chronic lymphocytic leukemia tumorigenesis (PMID:17545520)
- GLEPP1 expression may be a useful marker of podocyte injury in immunoglobulin A nephropathy, and may be predictive of clinical and pathological severity (PMID:17593862)
- PTPRO gene is co-regulated by both E2F1 and miR-17-92. (PMID:18644370)
- These data suggest that estrogen-mediated suppression of PTPRO is probably one of the early events in estrogen-induced tumorigenesis and that expression of PTPRO could facilitate endocrine therapy of breast cancer. (PMID:19095770)
- Dimerization of neuronal type III receptor-protein tyrosine phosphatase PTPRO in living cells is regulated by disulfide linkages in the PTPRO intracellular domain. (PMID:19573017)
- BCL6 repressed PTPROt transcription via a direct interaction with functional BCL6 binding sites in the PTPROt promoter (PMID:19855081)
- The present study introduces mutations in PTPRO as another cause of autosomal-recessive nephrotic syndrome. (PMID:21722858)
- These findings further substantiate the role of TCL1 in PTPROt suppression and its importance in the pathogenesis of chronic lymphocytic leukemia. (PMID:22001392)
- hypermethylated PTPRO occurs frequently in esophageal squamous cell carcinoma (PMID:22099875)
- Three intronic SNPs in PTPRO were associated with learning and memory. (PMID:22126837)
- ErbB2 is a direct substrate of PTPRO and decreased expression of PTPRO predicts poor prognosis for ErbB2-positive breast cancer patients. (PMID:22851698)
- methylation and downregulation of PTPRO in a subset of primary human HCC and establish VCP as a novel functionally important substrate of this tyrosine phosphatase that could be a potential molecular target for HCC therapy. (PMID:23533167)
- PTPRO methylation is associated with poor survival only in HER2-positive patients. (PMID:24090193)
- PTPRO level was decreased in the early phase but reversed in the late phase of hepatic ischemia reperfusion injury. (PMID:24128416)
- Our study suggests an interesting PTPRO/TLR4/NF-kappaB signaling feedback loop in Hhepatocellular carcinomcarcinogenesis and progression (PMID:25034527)
- Results highlight the PTPRO contribution in negative regulation of SRC/EGFR signaling in colon cancer. (PMID:25301722)
- PTPRO was drastically decreased in fulminant hepatitis, and this was associated with enhanced beta-catenin accumulation but reduced IFN-gamma secretion. (PMID:25339662)
- The optimal pH value of PTP-oc is approximately 7.0. (PMID:25462809)
- Loss of PTPRO expression is associated with chronic lymphocytic leukemia. (PMID:25482129)
- These observations confirm that PTPRO plays a critical role in liver fibrogenesis by affecting PDGF signaling in HSC activation and might be developed into a feasible therapeutic approach for the treatment of chronic fibrotic liver diseases. (PMID:25633279)
- PTPRO truncated serves as an important tumor suppressor in hepatocellular carcinoma microenvironment. (PMID:26117839)
- Single nucleotide polymorphism in PTPRO gene is associated with Acute Renal Graft Rejection. (PMID:27272414)
- Results provide evidence that PTPRO inhibits ERBB2-driven breast cancer through dephosphorylation leading to dual effects of ERBB2 signaling suppression and endosomal internalization of ERBB2. (PMID:27345410)
- PTPRO is a novel candidate gene in emphysema with severe airflow obstruction. (PMID:28199135)
- the present study demonstrated that PTPRO inhibits tumor growth in vitro and in vivo, indicating the tumor suppressive function of PTPRO in LSCC. This study highlights PTPRO as an epigenetically silenced gene, and a candidate tumor-suppressor of LSCC. (PMID:28586036)
- PTPRO was significantly upregulated and negatively associated with miR-548c-5p in placental mononuclear cells in patients with preeclampsia. (PMID:30443949)
- LncRNA HULC promotes lung squamous cell carcinoma by regulating PTPRO via NF-kappaB. (PMID:31448453)
- PTPRO exaggerates inflammation in ulcerative colitis through TLR4/NF-kappaB pathway. (PMID:31452237)
- IL-6 promotes PD-L1 expression in monocytes and macrophages by decreasing protein tyrosine phosphatase receptor type O expression in human hepatocellular carcinoma. (PMID:32581055)
- MiR-6869-5p Induces M2 Polarization by Regulating PTPRO in Gestational Diabetes Mellitus. (PMID:34007244)
- Protein tyrosine phosphatase receptor type O (PTPRO) knockdown enhances the proliferative, invasive and angiogenic activities of trophoblast cells by suppressing ER resident protein 44 (ERp44) expression in preeclampsia. (PMID:34719307)
- PTPRO activates TLR4/NF-kappaB signaling to intensify lipopolysaccharide-induced pneumonia cell injury. (PMID:35527665)
- PTPRO-related CD8(+) T-cell signatures predict prognosis and immunotherapy response in patients with breast cancer. (PMID:36003382)
- Protein tyrosine phosphatase PTPRO represses lung adenocarcinoma progression by inducing mitochondria-dependent apoptosis and restraining tumor metastasis. (PMID:38182570)
- Protein tyrosine phosphatase receptor type O serves as a key regulator of insulin resistance-induced alpha-synuclein aggregation in Parkinson’s disease. (PMID:39276174)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ptpro | ENSDARG00000100422 |
| danio_rerio | ENSDARG00000110470 | |
| mus_musculus | Ptpro | ENSMUSG00000030223 |
| rattus_norvegicus | Ptpro | ENSRNOG00000006231 |
| drosophila_melanogaster | Ptp4E | FBGN0004368 |
| drosophila_melanogaster | Ptp10D | FBGN0004370 |
| caenorhabditis_elegans | WBGENE00009717 |
Paralogs (35): PTPRN (ENSG00000054356), PTPRU (ENSG00000060656), PTPN3 (ENSG00000070159), PTPN21 (ENSG00000070778), PTPN18 (ENSG00000072135), PTPN23 (ENSG00000076201), PTPRH (ENSG00000080031), PTPRC (ENSG00000081237), PTPN4 (ENSG00000088179), PTPRS (ENSG00000105426), PTPRZ1 (ENSG00000106278), PTPN5 (ENSG00000110786), PTPN6 (ENSG00000111679), PTPRB (ENSG00000127329), PTPN12 (ENSG00000127947), PTPRE (ENSG00000132334), PTPRA (ENSG00000132670), PTPN22 (ENSG00000134242), PTPRF (ENSG00000142949), PTPN7 (ENSG00000143851), PTPRG (ENSG00000144724), PTPRJ (ENSG00000149177), PTPN14 (ENSG00000152104), PTPRK (ENSG00000152894), PTPRR (ENSG00000153233), PTPRD (ENSG00000153707), PTPRN2 (ENSG00000155093), PTPN13 (ENSG00000163629), PTPN9 (ENSG00000169410), PTPRM (ENSG00000173482), PTPN2 (ENSG00000175354), PTPN11 (ENSG00000179295), PTPRT (ENSG00000196090), PTPN1 (ENSG00000196396), PTPN20 (ENSG00000204179)
Protein
Protein identifiers
Receptor-type tyrosine-protein phosphatase O — Q16827 (reviewed: Q16827)
Alternative names: Glomerular epithelial protein 1, Protein tyrosine phosphatase U2
All UniProt accessions (10): Q16827, A0A6I8PIM6, A0A6I8PL17, A0A6I8PRB8, A0A6I8PRG8, A0A6I8PRZ5, A0A6I8PS48, A0A6I8PU14, H0YH11, H0YH60
UniProt curated annotations — full annotation on UniProt →
Function. Possesses tyrosine phosphatase activity. Plays a role in regulating the glomerular pressure/filtration rate relationship through an effect on podocyte structure and function.
Subunit / interactions. Interacts (phosphorylated form) with FYN and GRB2.
Subcellular location. Membrane.
Tissue specificity. Glomerulus of kidney. Also detected in brain, lung and placenta.
Disease relevance. Nephrotic syndrome 6 (NPHS6) [MIM:614196] A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. The disease is caused by variants affecting the gene represented in this entry.
Induction. By various differentiation-inducing agents.
Miscellaneous. Predominantly expressed in B-lymphoid tissues.
Similarity. Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q16827-1 | 1 | yes |
| Q16827-2 | 2 | |
| Q16827-3 | 3, PTPROt | |
| Q16827-4 | 4 | |
| Q16827-5 | 5 |
RefSeq proteins (6): NP_002839, NP_109592, NP_109593, NP_109594, NP_109595, NP_109596 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000242 | PTP_cat | Domain |
| IPR000387 | Tyr_Pase_dom | Domain |
| IPR003595 | Tyr_Pase_cat | Domain |
| IPR003961 | FN3_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR016130 | Tyr_Pase_AS | Active_site |
| IPR029021 | Prot-tyrosine_phosphatase-like | Homologous_superfamily |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR042996 | PTPRO | Family |
| IPR058859 | Fn3_R-PTP-O | Domain |
Pfam: PF00041, PF00102, PF26586
Enzyme classification (BRENDA):
- EC 3.1.3.48 — protein-tyrosine-phosphatase (BRENDA: 59 organisms, 501 substrates, 1326 inhibitors, 270 Km, 165 kcat entries)
Substrate kinetics (BRENDA)
70 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 4-NITROPHENYL PHOSPHATE | 0.0008–148 | 84 |
| 6,8-DIFLUORO-4-METHYLUMBELLIFERYL PHOSPHATE | 0.0039–0.862 | 27 |
| P-NITROPHENYL PHOSPHATE | 0.0024–10 | 20 |
| DADEPYLIPQQG | 0.0003–0.1 | 12 |
| PHOSPHOTYROSINE | 0.012–30 | 11 |
| LYSOZYME | 0.0003–0.012 | 5 |
| MYELIN BASIC PROTEIN | 0.0001–0.022 | 5 |
| ACETYL-DADEPY-NH2 | 0.0228–0.219 | 4 |
| ACETYL-DADEPYL-NH2 | 1.1–97.5 | 4 |
| 4,6,8-TRIMETHYL-2-OXO-2H-CHROMEN-7-YL DIHYDROGEN | 0.02–0.156 | 3 |
| SASASPYSASA | 0.53–2.3 | 3 |
| 1-NAPHTHYL PHOSPHATE | 1.19–1.88 | 2 |
| 3,6-FLUORESCEIN DIPHOSPHATE | 15–19 | 2 |
| 4-METHYLUMBELLIFERYL PHOSPHATE | 0.953–2.41 | 2 |
| BOVINE SERUM ALBUMIN | 0.0001–0.0003 | 2 |
Catalyzed reactions (Rhea), 1 shown:
- O-phospho-L-tyrosyl-[protein] + H2O = L-tyrosyl-[protein] + phosphate (RHEA:10684)
UniProt features (80 total): glycosylation site 15, sequence conflict 15, strand 13, helix 10, domain 9, splice variant 4, binding site 3, turn 3, modified residue 2, topological domain 2, signal peptide 1, chain 1, active site 1, transmembrane region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2GJT | X-RAY DIFFRACTION | 2.15 |
| 2G59 | X-RAY DIFFRACTION | 2.19 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q16827-F1 | 77.55 | 0.34 |
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): 1136 (phosphocysteine intermediate)
Ligand- & substrate-binding residues (3): 1102; 1136–1142; 1180
Post-translational modifications (2): 865, 1210
Glycosylation sites (15): 75, 154, 189, 201, 227, 278, 287, 323, 324, 370, 461, 490, 700, 712, 733
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9034015 | Signaling by NTRK3 (TRKC) |
MSigDB gene sets: 403 (showing top):
GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_CELL_CHEMOTAXIS, GOBP_RETINAL_GANGLION_CELL_AXON_GUIDANCE, GOBP_RENAL_SYSTEM_PROCESS_INVOLVED_IN_REGULATION_OF_BLOOD_VOLUME, MODULE_64, GOBP_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_AXON_GUIDANCE, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, LHX3_01, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT
GO Biological Process (16): cell morphogenesis (GO:0000902), monocyte chemotaxis (GO:0002548), regulation of glomerular filtration (GO:0003093), negative regulation of glomerular filtration (GO:0003105), axon guidance (GO:0007411), negative regulation of cell-substrate adhesion (GO:0010812), negative regulation of neuron projection development (GO:0010977), lamellipodium assembly (GO:0030032), glomerulus development (GO:0032835), slit diaphragm assembly (GO:0036060), regulation of synapse organization (GO:0050807), podocyte differentiation (GO:0072112), negative regulation of canonical Wnt signaling pathway (GO:0090090), negative regulation of retinal ganglion cell axon guidance (GO:0090260), protein dephosphorylation (GO:0006470), dephosphorylation (GO:0016311)
GO Molecular Function (9): protein tyrosine phosphatase activity (GO:0004725), transmembrane receptor protein tyrosine phosphatase activity (GO:0005001), phosphatase activity (GO:0016791), Wnt-protein binding (GO:0017147), protein homodimerization activity (GO:0042803), cadherin binding (GO:0045296), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (13): plasma membrane (GO:0005886), membrane (GO:0016020), apical plasma membrane (GO:0016324), lateral plasma membrane (GO:0016328), lamellipodium (GO:0030027), axon (GO:0030424), growth cone (GO:0030426), neuron projection (GO:0043005), dendritic spine (GO:0043197), extracellular exosome (GO:0070062), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Signaling by NTRKs | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| glomerular filtration | 2 |
| cellular anatomical structure | 2 |
| plasma membrane bounded cell projection | 2 |
| synapse | 2 |
| anatomical structure morphogenesis | 1 |
| leukocyte chemotaxis | 1 |
| mononuclear cell migration | 1 |
| myeloid leukocyte migration | 1 |
| regulation of renal system process | 1 |
| regulation of glomerular filtration | 1 |
| negative regulation of multicellular organismal process | 1 |
| axonogenesis | 1 |
| neuron projection guidance | 1 |
| negative regulation of cell adhesion | 1 |
| regulation of cell-substrate adhesion | 1 |
| cell-substrate adhesion | 1 |
| regulation of neuron projection development | 1 |
| neuron projection development | 1 |
| negative regulation of cell projection organization | 1 |
| lamellipodium organization | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| anatomical structure development | 1 |
| nephron development | 1 |
| filtration diaphragm assembly | 1 |
| regulation of synapse structure or activity | 1 |
| synapse organization | 1 |
| regulation of cellular component organization | 1 |
| renal filtration cell differentiation | 1 |
| glomerular epithelial cell differentiation | 1 |
| negative regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| retinal ganglion cell axon guidance | 1 |
| regulation of retinal ganglion cell axon guidance | 1 |
| negative regulation of axon guidance | 1 |
| dephosphorylation | 1 |
| protein modification process | 1 |
| phosphate-containing compound metabolic process | 1 |
| phosphoprotein phosphatase activity | 1 |
| protein tyrosine phosphatase activity | 1 |
Protein interactions and networks
STRING
1308 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PTPRO | NPHS1 | O60500 | 664 |
| PTPRO | NPHS2 | Q9NP85 | 661 |
| PTPRO | SYNPO | Q8N3V7 | 622 |
| PTPRO | PTS | Q03393 | 609 |
| PTPRO | FN1 | P02751 | 607 |
| PTPRO | PODXL | O00592 | 571 |
| PTPRO | SLITRK2 | Q9H156 | 557 |
| PTPRO | SHISA4 | Q96DD7 | 556 |
| PTPRO | PLCE1 | Q9P212 | 540 |
| PTPRO | MYO1E | Q12965 | 532 |
| PTPRO | CGB5 | P01233 | 525 |
| PTPRO | ACTN4 | O43707 | 514 |
| PTPRO | WT1 | P19544 | 507 |
| PTPRO | INF2 | Q27J81 | 507 |
| PTPRO | CD2AP | Q9Y5K6 | 507 |
IntAct
32 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PTPRO | PTPRO | psi-mi:“MI:0407”(direct interaction) | 0.510 |
| PTPRO | PTPRO | psi-mi:“MI:0914”(association) | 0.510 |
| PTPRO | GTF2IRD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DPPA4 | PTPRO | psi-mi:“MI:0915”(physical association) | 0.370 |
| DPYSL4 | PTPRO | psi-mi:“MI:0915”(physical association) | 0.370 |
| PTPRO | SH3GL1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SH3GL3 | PTPRO | psi-mi:“MI:0915”(physical association) | 0.370 |
| PTPRO | YWHAZ | psi-mi:“MI:0915”(physical association) | 0.370 |
| PTPRO | PLXNB2 | psi-mi:“MI:0914”(association) | 0.350 |
| PTPRO | CDH2 | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | TEC | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | ERBB2 | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | PDGFRB | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | MET | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | PXN | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | LCK | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | CTNNB1 | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | INSR | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | CSK | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | GAB1 | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | NTRK1 | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | PDPK1 | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | NSF | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | EPOR | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | MAPK3 | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| TEK | PTPRO | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | TEK | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | WAS | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
| PTPRO | CBL | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.000 |
BioGRID (180): PTPRO (Affinity Capture-MS), SDF2 (Affinity Capture-MS), ERLEC1 (Affinity Capture-MS), NGLY1 (Affinity Capture-MS), SDF2L1 (Affinity Capture-MS), DNAJC30 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), TMEM246 (Affinity Capture-MS), LGALS3 (Affinity Capture-MS), TXNDC12 (Affinity Capture-MS), PDIA4 (Affinity Capture-MS), PDIA3 (Affinity Capture-MS), SEL1L (Affinity Capture-MS), CALR (Affinity Capture-MS), OS9 (Affinity Capture-MS)
ESM2 similar proteins: A0A0A6YXX9, A0A1Z2R986, B8RJM0, E9Q555, E9Q612, G5E8Q8, O35664, O88393, P09258, P0DP43, P13374, P20746, P22596, P22650, P22651, P26342, P33500, P35054, P48749, P68325, Q03167, Q14CH0, Q16827, Q2TAV2, Q2YDM0, Q56A20, Q5BKX0, Q5R7R7, Q5RBQ2, Q5U228, Q68FB2, Q6NU22, Q6NU51, Q6P995, Q6S6Q5, Q6UC88, Q76B58, Q77NN4, Q7SXB3, Q8K1M8
Diamond homologs: A0A6I8TCE0, A1L1L3, A2ALK8, A4IFW2, B0V2N1, B0X4T2, B1AUH1, B2GV87, B2RU80, B3DK56, B9EKR1, E9Q0N2, E9Q612, F1NWE3, G5EC24, G5EGJ9, H2KZM6, O02695, O08617, O13016, O35239, O55082, P06800, P16620, P17706, P18031, P18052, P18433, P20417, P23467, P23468, P23469, P23470, P23471, P26045, P28191, P29074, P29350, P29351, P29352
SIGNOR signaling
6 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PTPRO | “down-regulates quantity by destabilization” | ERBB2 | dephosphorylation |
| PTPRO | “down-regulates activity” | SRC | dephosphorylation |
| PTPRO | “down-regulates activity” | STAT3 | dephosphorylation |
| PTPRO | “down-regulates activity” | VCP | dephosphorylation |
| PTPRO | “down-regulates activity” | LYN | dephosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 27 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Bacterial Infection Pathways | 5 | 67.2× | 8e-07 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 7 | 27.1× | 6e-07 |
| Constitutive Signaling by Aberrant PI3K in Cancer | 5 | 25.4× | 6e-05 |
| PIP3 activates AKT signaling | 8 | 21.4× | 4e-07 |
| Signaling by Receptor Tyrosine Kinases | 9 | 18.6× | 2e-07 |
| RAF/MAP kinase cascade | 6 | 14.7× | 1e-04 |
| Signaling by Interleukins | 5 | 12.8× | 1e-03 |
| Diseases of signal transduction by growth factor receptors and second messengers | 5 | 11.4× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| epidermal growth factor receptor signaling pathway | 5 | 45.9× | 1e-05 |
| cell surface receptor protein tyrosine kinase signaling pathway | 6 | 38.6× | 5e-06 |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 7 | 20.3× | 1e-05 |
| protein phosphorylation | 7 | 17.6× | 1e-05 |
| positive regulation of MAPK cascade | 5 | 14.9× | 1e-03 |
| angiogenesis | 6 | 13.9× | 4e-04 |
| intracellular signal transduction | 7 | 9.9× | 4e-04 |
| negative regulation of apoptotic process | 6 | 7.7× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
527 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 5 |
| Uncertain significance | 254 |
| Likely benign | 142 |
| Benign | 78 |
Top pathogenic / likely-pathogenic (10)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2110028 | NM_030667.3(PTPRO):c.1241C>G (p.Ser414Ter) | Pathogenic |
| 2110029 | NM_030667.3(PTPRO):c.1949del (p.Ser650fs) | Pathogenic |
| 30110 | NM_030667.3(PTPRO):c.2627+1G>T | Pathogenic |
| 30111 | NM_030667.3(PTPRO):c.2829+1G>A | Pathogenic |
| 3656259 | NM_030667.3(PTPRO):c.2803_2806del (p.Asp935fs) | Pathogenic |
| 1068336 | NM_030667.3(PTPRO):c.2712-2del | Likely pathogenic |
| 2116990 | NM_030667.3(PTPRO):c.2305-1G>C | Likely pathogenic |
| 3574470 | NM_030667.3(PTPRO):c.1758del (p.Val587fs) | Likely pathogenic |
| 3574482 | NM_030667.3(PTPRO):c.2027del (p.Lys676fs) | Likely pathogenic |
| 3574503 | NM_030667.3(PTPRO):c.2712-1G>A | Likely pathogenic |
SpliceAI
4787 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:15483965:A:AG | acceptor_gain | 1.0000 |
| 12:15499439:CA:C | acceptor_loss | 1.0000 |
| 12:15499440:A:AG | acceptor_gain | 1.0000 |
| 12:15499440:A:AT | acceptor_loss | 1.0000 |
| 12:15499441:G:GA | acceptor_gain | 1.0000 |
| 12:15499591:ACTGG:A | donor_loss | 1.0000 |
| 12:15499592:CTGGT:C | donor_loss | 1.0000 |
| 12:15499593:TGG:T | donor_loss | 1.0000 |
| 12:15499594:GGTAA:G | donor_loss | 1.0000 |
| 12:15499595:G:GG | donor_gain | 1.0000 |
| 12:15499595:GTA:G | donor_loss | 1.0000 |
| 12:15499596:TAA:T | donor_loss | 1.0000 |
| 12:15499597:AA:A | donor_loss | 1.0000 |
| 12:15501618:A:AG | acceptor_gain | 1.0000 |
| 12:15501619:G:GG | acceptor_gain | 1.0000 |
| 12:15501619:GCC:G | acceptor_gain | 1.0000 |
| 12:15501619:GCCCC:G | acceptor_gain | 1.0000 |
| 12:15501941:G:GG | donor_gain | 1.0000 |
| 12:15501951:G:GT | donor_gain | 1.0000 |
| 12:15503900:T:G | acceptor_gain | 1.0000 |
| 12:15504070:G:GG | donor_gain | 1.0000 |
| 12:15516761:A:AG | acceptor_gain | 1.0000 |
| 12:15516762:G:GG | acceptor_gain | 1.0000 |
| 12:15524943:G:GT | donor_gain | 1.0000 |
| 12:15524944:A:T | donor_gain | 1.0000 |
| 12:15524961:AGAGT:A | donor_gain | 1.0000 |
| 12:15524962:GAGT:G | donor_gain | 1.0000 |
| 12:15524962:GAGTG:G | donor_gain | 1.0000 |
| 12:15524964:GT:G | donor_gain | 1.0000 |
| 12:15524966:G:GG | donor_gain | 1.0000 |
AlphaMissense
8058 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:15516825:T:A | W550R | 1.000 |
| 12:15516825:T:C | W550R | 1.000 |
| 12:15551601:A:C | S830R | 1.000 |
| 12:15551603:C:A | S830R | 1.000 |
| 12:15551603:C:G | S830R | 1.000 |
| 12:15569493:T:C | F942L | 1.000 |
| 12:15569495:T:A | F942L | 1.000 |
| 12:15569495:T:G | F942L | 1.000 |
| 12:15578921:C:A | N966K | 1.000 |
| 12:15578921:C:G | N966K | 1.000 |
| 12:15578922:C:A | R967S | 1.000 |
| 12:15578933:C:A | N970K | 1.000 |
| 12:15578933:C:G | N970K | 1.000 |
| 12:15580106:C:A | N996K | 1.000 |
| 12:15580106:C:G | N996K | 1.000 |
| 12:15580725:C:A | A1009D | 1.000 |
| 12:15580733:G:A | G1012R | 1.000 |
| 12:15580733:G:C | G1012R | 1.000 |
| 12:15580733:G:T | G1012W | 1.000 |
| 12:15580763:T:A | W1022R | 1.000 |
| 12:15580763:T:C | W1022R | 1.000 |
| 12:15580800:T:A | V1034D | 1.000 |
| 12:15580806:T:C | L1036P | 1.000 |
| 12:15581682:A:G | K1046E | 1.000 |
| 12:15581684:A:C | K1046N | 1.000 |
| 12:15581684:A:T | K1046N | 1.000 |
| 12:15581685:T:C | C1047R | 1.000 |
| 12:15581687:T:G | C1047W | 1.000 |
| 12:15581697:T:A | W1051R | 1.000 |
| 12:15581697:T:C | W1051R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000008393 (12:15589152 G>A), RS1000009567 (12:15500709 G>A,T), RS1000036998 (12:15467608 A>G), RS1000047294 (12:15582035 G>C), RS1000050846 (12:15455218 T>C), RS1000053787 (12:15423914 A>G), RS1000055993 (12:15575887 G>A), RS1000056355 (12:15547976 G>A), RS1000072749 (12:15494041 G>T), RS1000074454 (12:15597433 G>A), RS1000084026 (12:15377491 A>T), RS1000094123 (12:15467464 A>C), RS1000121868 (12:15535522 G>A), RS1000124902 (12:15493763 A>G), RS1000149791 (12:15378644 C>T)
Disease associations
OMIM: gene MIM:600579 | disease phenotypes: MIM:614196, MIM:614800, MIM:616483
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| nephrotic syndrome, type 6 | Strong | Autosomal recessive |
| familial idiopathic steroid-resistant nephrotic syndrome | Supportive | Autosomal dominant |
Mondo (5): nephrotic syndrome, type 6 (MONDO:0013619), short stature-optic atrophy-Pelger-Huët anomaly syndrome (MONDO:0013889), infantile liver failure syndrome 2 (MONDO:0014659), focal segmental glomerulosclerosis (MONDO:0100313), familial idiopathic steroid-resistant nephrotic syndrome (MONDO:0019006)
Orphanet (2): Hereditary steroid-resistant nephrotic syndrome (Orphanet:656), Short stature-optic atrophy-Pelger-Huët anomaly syndrome (Orphanet:391677)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D005923 | Glomerulosclerosis, Focal Segmental | C12.050.351.968.419.570.363.640; C12.200.777.419.570.363.660; C12.950.419.570.363.640 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105749 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: catalytic receptor — Receptor tyrosine phosphatase (RTP) family
ChEMBL bioactivities
2 potent at pChembl≥5 of 6 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.91 | Ki | 123 | nM | CHEMBL4063482 |
| 6.25 | IC50 | 560 | nM | SODIUM ORTHOVANAD |
PubChem BioAssay actives
1 with measured affinity, of 8 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 5-[[4-[2-(4-butylphenyl)ethynyl]phenyl]methyl-hexylamino]-2-hydroxybenzoic acid | 1930714: Binding affinity to GLEPP1 (unknown origin) assessed as inhibition constant | ki | 0.1230 | uM |
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects reaction, decreases expression, affects cotreatment, increases expression | 3 |
| Valproic Acid | decreases expression, increases expression | 3 |
| methylmercuric chloride | decreases expression, increases expression | 2 |
| bisphenol A | decreases expression, affects reaction, affects cotreatment, decreases methylation | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Panobinostat | decreases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Cadmium Chloride | decreases reaction, increases abundance, increases palmitoylation, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| lead acetate | increases expression, affects cotreatment | 1 |
| terbufos | increases methylation | 1 |
| zinc protoporphyrin | affects cotreatment, increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| cupric chloride | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| diallyl trisulfide | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| clothianidin | decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation, increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Allergens | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3991951 | Binding | Inhibition of human recombinant Glepp-1 catalytic domain using DiFMUP as substrate after 30 mins by fluorescence assay | GLEPP-1 inhibitors in the treatment of autoimmune and/or inflammatory disorders |
Clinical trials (associated diseases)
76 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01129557 | PHASE4 | TERMINATED | Aldosterone Breakthrough During Diovan, Tekturna, and Combination Therapy in Patients With Proteinuric Kidney Disease |
| NCT02399462 | PHASE4 | WITHDRAWN | Acthar for Treatment of Post-transplant FSGS |
| NCT02585804 | PHASE4 | COMPLETED | Treating to Reduce Albuminuria and Normalize Hemodynamic Function in Focal ScLerosis With dApagliflozin Trial Effects |
| NCT02633046 | PHASE4 | COMPLETED | Acthar for Treatment-Resistant or Treatment-Intolerant Proteinuria |
| NCT07219121 | PHASE4 | RECRUITING | Sparsentan in Posttransplant Immunoglobulin A Nephropathy or Focal Segmental Glomerulosclerosis |
| NCT01164098 | PHASE3 | TERMINATED | Rituximab to Prevent Recurrence of Proteinuria |
| NCT02683889 | PHASE3 | COMPLETED | Use of Acthar in Patients With FSGS That Will be Undergoing Renal Transplantation |
| NCT03298698 | PHASE3 | UNKNOWN | Efficacy of Rituximab in Comparison to Continued Corticosteroid Treatment in Idiopathic Nephrotic Syndrome |
| NCT03493685 | PHASE3 | COMPLETED | Study of Sparsentan in Patients With Primary Focal Segmental Glomerulosclerosis (FSGS) |
| NCT05183646 | PHASE3 | RECRUITING | A Study of the Efficacy and Safety of DMX-200 in Patients With FSGS Who Are Receiving an ARB |
| NCT07220083 | PHASE3 | RECRUITING | A Study to Find Out if BI 764198 Helps Adults and Adolescents With a Kidney Condition Called Focal Segmental Glomerulosclerosis (FSGS) |
| NCT00550342 | PHASE2 | WITHDRAWN | Rituximab Treatment of Focal Segmental Glomerulosclerosis |
| NCT00814255 | PHASE2 | COMPLETED | Novel Therapies for Resistant FSGS (FONTII): Phase II Clinical Trial |
| NCT01613118 | PHASE2 | COMPLETED | Randomized, Double-Blind, Safety and Efficacy Study of RE-021 (Sparsentan) in Focal Segmental Glomerulosclerosis |
| NCT02592798 | PHASE2 | COMPLETED | Pilot Study to Evaluate the Safety and Efficacy of Abatacept in Adults and Children 6 Years and Older With Excessive Loss of Protein in the Urine Due to Either Focal Segmental Glomerulosclerosis (FSGS) or Minimal Change Disease (MCD) |
| NCT03366337 | PHASE2 | COMPLETED | A Phase 2 Trial of the Safety and Efficacy of Bardoxolone Methyl in Patients With Rare Chronic Kidney Diseases - PHOENIX |
| NCT03448692 | PHASE2 | TERMINATED | A Study to Evaluate PF-06730512 in Adults With Focal Segmental Glomerulosclerosis (FSGS) |
| NCT03536754 | PHASE2 | COMPLETED | A Study of CCX140-B in Subjects With FSGS |
| NCT03598036 | PHASE2 | TERMINATED | Dose-Exploration Evaluating the Efficacy and Safety of Voclosporin in Subjects With Focal Segmental Glomerulosclerosis |
| NCT03649152 | PHASE2 | COMPLETED | Safety and Effectiveness of Propagermanium in Focal Segmental Glomerulosclerosis Participants Receiving Irbesartan |
| NCT03703908 | PHASE2 | TERMINATED | A Study of CCX140-B in Subjects With Primary FSGS and Nephrotic Syndrome |
| NCT04009668 | PHASE2 | COMPLETED | Tumor Necrosis Factor Inhibition in Focal Segmental Glomerulosclerosis and Treatment Resistant Minimal Change Disease |
| NCT04573920 | PHASE2 | ACTIVE_NOT_RECRUITING | Atrasentan in Patients With Proteinuric Glomerular Diseases |
| NCT05003986 | PHASE2 | RECRUITING | Study of Sparsentan Treatment in Pediatrics With Proteinuric Glomerular Diseases |
| NCT05267262 | PHASE2 | COMPLETED | Study to Evaluate R3R01 in Patients With Alport Syndrome and Patients With Focal Segmental Glomerulosclerosis |
| NCT05441826 | PHASE2 | TERMINATED | Efficacy and Safety of VB119 in Subjects With Minimal Change Disease (MCD) and Focal Segmental Glomerulosclerosis (FSGS) |
| NCT06500702 | PHASE2 | RECRUITING | A Study to Evaluate the Efficacy and Safety of Frexalimab, Brivekimig, or Rilzabrutinib in Participants Aged 16 to 75 Years With Primary Focal Segmental Glomerulosclerosis or Minimal Change Disease |
| NCT06664814 | PHASE2 | RECRUITING | An Open-Label Phase 2 Study of N-Acetyl-D-Mannosamine (ManNAc) in Subjects With Primary Focal Segmental Glomerulosclerosis |
| NCT06983028 | PHASE2 | RECRUITING | Atacicept in Multiple Glomerular Diseases |
| NCT07268638 | PHASE2 | RECRUITING | A Study of Praliciguat in Participants With Focal Segmental Glomerulosclerosis (FSGS) |
| NCT07614477 | PHASE2 | RECRUITING | Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of EVER001 in Participants With Selected Proteinuric Glomerular Diseases |
| NCT00464321 | PHASE1 | COMPLETED | Safety Study of GC1008 in Patients With Focal Segmental Glomerulosclerosis (FSGS) of Single Doses of GC1008 in Patients With Treatment Resistant Idiopathic FSGS |
| NCT00782561 | PHASE1 | TERMINATED | Safety and Pharmacokinetics of FG-3019 in Adolescents and Adults With Focal Segmental Glomerulosclerosis (FSGS) |
| NCT00816478 | PHASE1 | TERMINATED | Effect of Oral Galactose on Focal Segmental Glomerulosclerosis (FSGS) Permeability Factor |
| NCT00816504 | PHASE1 | WITHDRAWN | Effect of Galactose on Permeblity Factor in Patients With FSGS and CKD Stage 5 |
| NCT02382874 | PHASE1 | UNKNOWN | Allogenic AD-MSC Transplantation in Idiopathic Nephrotic Syndrome (Focal Segmental Glomerulosclerosis) |
| NCT02693366 | PHASE1 | COMPLETED | Stem Cell Therapy for Patients With Focal Segmental Glomerulosclerosis |
| NCT05942625 | PHASE1 | RECRUITING | A First in Human Study to Evaluate Safety, Tolerability, Pharmacology of HS-10390 in Healthy Subjects |
| NCT05955872 | PHASE1 | COMPLETED | A Study Evaluating the Relative Bioavailability and Food Effect of a Tablet Formulation of VX-147 |
| NCT06529796 | PHASE1 | COMPLETED | Evaluation of the Pharmacokinetics and Safety of Inaxaplin in Participants With Mild or Moderate Hepatic Impairment |
Related Atlas pages
- Associated diseases: nephrotic syndrome, type 6, familial idiopathic steroid-resistant nephrotic syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): familial idiopathic steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis, infantile liver failure syndrome 2, nephrotic syndrome, type 6, short stature-optic atrophy-Pelger-Huët anomaly syndrome