PAX2

Summary

PAX2 (paired box 2, HGNC:8616) is a protein-coding gene on chromosome 10q24.31, encoding Paired box protein Pax-2 (Q02962). Transcription factor that may have a role in kidney cell differentiation. It is haploinsufficient (ClinGen: sufficient evidence).

PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 5076 — RefSeq curated summary.

At a glance

• Gene–disease (curated): focal segmental glomerulosclerosis 7 (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 24
• Clinical variants (ClinVar): 633 total — 66 pathogenic, 73 likely-pathogenic
• Phenotypes (HPO): 88
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 26 downstream targets (CollecTRI)
• MANE Select transcript: NM_000278

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8616
Approved symbol	PAX2
Name	paired box 2
Location	10q24.31
Locus type	gene with protein product
Status	Approved
Aliases	PAX-2
Ensembl gene	ENSG00000075891
Ensembl biotype	protein_coding
OMIM	167409
Entrez	5076

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 11 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000355243, ENST00000361791, ENST00000370296, ENST00000427256, ENST00000428433, ENST00000483202, ENST00000553492, ENST00000554172, ENST00000554363, ENST00000679374, ENST00000707078, ENST00000707079, ENST00000884893, ENST00000884894

RefSeq mRNA: 6 — MANE Select: NM_000278 NM_000278, NM_001304569, NM_003987, NM_003988, NM_003989, NM_003990

CCDS: CCDS41561, CCDS53569, CCDS7499, CCDS91319

Canonical transcript exons

ENST00000355243 — 10 exons

Exon	Start	End
ENSE00000000165	100827543	100829944
ENSE00000721143	100809110	100809236
ENSE00000933164	100824648	100824749
ENSE00002450374	100749746	100749914
ENSE00002511871	100750694	100750891
ENSE00003458791	100806430	100806605
ENSE00003607033	100779498	100779583
ENSE00003686575	100781246	100781365
ENSE00003728965	100827009	100827095
ENSE00003998170	100745582	100746303

Expression profiles

Bgee: expression breadth broad, 92 present calls, max score 98.39.

FANTOM5 (CAGE): breadth broad, TPM avg 0.9705 / max 282.9885, expressed in 185 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106607	0.4225	119
106608	0.2559	52
106613	0.0919	37
106606	0.0402	20
106600	0.0365	19
106609	0.0332	15
106599	0.0169	10
106610	0.0168	3
106605	0.0155	6
106611	0.0150	4

Top tissues by expression

266 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
metanephros cortex	UBERON:0010533	98.39	gold quality
renal medulla	UBERON:0000362	98.15	gold quality
adult mammalian kidney	UBERON:0000082	93.12	gold quality
right uterine tube	UBERON:0001302	92.82	gold quality
cauda epididymis	UBERON:0004360	92.42	gold quality
corpus epididymis	UBERON:0004359	90.87	gold quality
kidney	UBERON:0002113	89.97	gold quality
seminal vesicle	UBERON:0000998	86.34	gold quality
cortex of kidney	UBERON:0001225	85.99	gold quality
metanephros	UBERON:0000081	84.25	gold quality
endometrium	UBERON:0001295	82.60	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.29	silver quality
frontal pole	UBERON:0002795	79.76	gold quality
paraflocculus	UBERON:0005351	79.55	silver quality
middle frontal gyrus	UBERON:0002702	78.96	gold quality
endometrium epithelium	UBERON:0004811	78.22	gold quality
kidney epithelium	UBERON:0004819	77.61	silver quality
nephron tubule	UBERON:0001231	76.92	silver quality
renal glomerulus	UBERON:0000074	76.22	gold quality
metanephric glomerulus	UBERON:0004736	75.51	silver quality
gluteal muscle	UBERON:0002000	74.59	gold quality
triceps brachii	UBERON:0001509	74.55	gold quality
olfactory bulb	UBERON:0002264	72.21	gold quality
fallopian tube	UBERON:0003889	72.15	gold quality
type B pancreatic cell	CL:0000169	72.14	gold quality
caput epididymis	UBERON:0004358	72.08	silver quality
Brodmann (1909) area 10	UBERON:0013541	70.95	gold quality
left uterine tube	UBERON:0001303	69.74	gold quality
cervix squamous epithelium	UBERON:0006922	69.21	gold quality
heart right ventricle	UBERON:0002080	68.89	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-38	yes	781.19
E-HCAD-10	yes	279.56
E-ANND-3	yes	5.32
E-CURD-135	no	832.07

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

26 targets.

Target	Regulation
ADAM10	Unknown
DEFB1	Repression
EN2	Activation
ERBB2	Unknown
GBX2
GCG	Activation
GDNF	Activation
IL5	Activation
L1CAM	Unknown
MITF	Unknown
NAIP	Activation
NCAM1	Unknown
NPHS1	Repression
PAX5	Unknown
PAX6	Repression
PAX8	Unknown
PLAAT4	Unknown
RET	Unknown
ROBO3	Unknown
SIX1	Unknown
TP53	Repression
TSC1
WNT1	Unknown
WNT4	Unknown
WNT5A
WT1	Unknown

JASPAR motifs

Motif	Name	Family
MA0067.2	PAX2	Paired domain only
MA0067.3	PAX2	Paired domain only

JASPAR matrix evidence (PMIDs): PMID:8132558

Upstream regulators (CollecTRI, top): AGTR1, DLX3, DNMT1, E2F1, FOXI1, NR2E1, OSR1, PAX3, PAX5, PAX6, SIX3, STAT3, WT1, YY1

miRNA regulators (miRDB)

83 targeting PAX2, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-1915-3P	99.58	66.79	1988

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• VDAC1 is not only necessary for normal growth but also important for disease resistance through regulation of hydrogen peroxide generation. (PMID:21705391)
• AtVDAC1 has a main function in mitochondria (PMID:22294207)
• Data indicate that both voltage-dependent anion channel 1 (AtVDAC1) and calcium sensor CBL1 regulate cold stress responses during seed germination and plant development. (PMID:23344040)
• Abnormal ovules in the process of female gametogenesis were observed. Both mitochondrial transmembrane potential and ATP synthesis rate were obviously reduced in the mitochondria isolated from atvdac1 plants. (PMID:25192453)
• The causal relationship between PAX2 gene mutations and renal-coloboma syndrome is further supported (PMID:11730657)
• The absence of PAX2 mutations has been identified in two families with histories of clinical overlap of Okihiro and acro-renal-ocular syndromes. (PMID:11826030)
• The HMG-I/Y-related protein p8 binds to p300 and Pax2 trans-activation domain-interacting protein to regulate the trans-activation activity of the Pax2A and Pax2B transcription factors on the glucagon gene promoter. (PMID:11940591)
• PAX2 has a role in urogenital tract development and disease [review] (PMID:12141441)
• The PAX2 gene was frequently expressed in a panel of 406 common primary tumor tissues and endogenous PAX gene expression is often required for the growth and survival of cancer cells (PMID:12970747)
• Pax2 protein regulates expression of secreted frizzled related protein 2 (PMID:14561758)
• PAX2 mutation is associated with Optic nerve dysplasia and renal insufficiency of the renal-coloboma syndrome (PMID:14566649)
• expression of Pax2 by Kaposi’s sarcoma cells correlated with an enhanced resistance against apoptotic signals and with the proinvasive phenotype (PMID:14627715)
• PAX-2 is a reliable marker for clear cell renal cell carcinomas of lower grades but not for higher grades. (PMID:15502805)
• A new PAX2 missense mutation, R71T, may cause macular abnormalities in addition to anomalies of the optic disk and the kidney. (PMID:15652857)
• Molecular genetic analysis of the PAX2 gene in combination with renal ultrasonography can help in making an earlier diagnosis of the disease. (PMID:15808183)
• PAX2 is a specific and sensitive immunohistochemical marker in identification and differential diagnosis of nephrogenic adenoma. (PMID:16400326)
• Over expression of Pax2 is associated with apoptosis resistance and angiogenesis favoring renal tumor growth (PMID:16436683)
• Pax2 overexpression in renal cell carcinoma cells contributes to cisplatin resistance. (PMID:16609680)
• Powerful effects of PAX2 on renal branching morphogenesis and final nephron number may be mediated by activation of Naip which then suppresses apoptosis in ureter bud cells. (PMID:16735463)
• Results showed no direct involvement of PAX-8 genes in Wilms tumor pathogenesis. (PMID:16814811)
• Mutations in PAX2 is associated with renal hypodysplasia (PMID:16971658)
• Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype (PMID:17269592)
• Subtle renal hypoplasia in normal newborns may be partially due to a common variant of the PAX2 gene that reduces mRNA expression during kidney development (PMID:17513325)
• PAX2 was identified in ovarian papillary serous carcinoma cells derived from Mullerian epithelium or surrounding ovary. (PMID:17529925)
• Herpesvirus 8, Human infection may activate an embryonic angiogenic program in human microvascular endothelial cells by inducing the expression of PAX2 oncogene. (PMID:18056486)
• familial renal failure with ocular abnormality (PMID:18379529)
• PAX2 is a potential therapeutic gene target in renal cancer and suggest that adjunctive PAX2 knockdown may enhance the efficacy of other chemotherapeutic agents. (PMID:18439754)
• The association of optic nerve and renal malformations should lead to the suspicion of papillorenal syndrome with PAX2 mutation. (PMID:18609495)
• Conclude that PAX-2 is a useful marker for distinguishing metastatic clear cell renal carcinoma from its potential morphologic mimics. (PMID:18685487)
• potential diagnostic utility of Pax 2 in distinction of (i) oncocytoma from chromophobe RCC, (ii) clear cell RCC and papillary RCC from renal tumors with Xp11.2 translocation and (iii) high-grade clear cell RCC from urothelial carcinoma (PMID:18941400)
• WNT5A is regulated by PAX2 and may be involved in blastemal predominant Wilms tumorigenesis (PMID:19048125)
• PAX2 oncogene suppresses hBD1 expression in cancer and further implicate PAX2 as a novel therapeutic target for prostate cancer treatment. (PMID:19118900)
• PAX-2 seems to have a significant role in renal neogenesis and may represent a novel therapeutic target. (PMID:19228645)
• Study concluded that in ccRCC, PAX2 reactivation is driven by HIF-dependent mechanisms following pVHL loss. (PMID:19401348)
• A previously undescribed intron 9 and exon 10 containing splice variant of PAX2 in B-cell neoplasia and in solid tumors on mRNA and protein level, is described. (PMID:19467152)
• PAX2 may be a novel therapeutic target for the treatment of carcinomas such as prostate cancer via the down-regulation of its expression by targeting the AT1R signaling pathways. (PMID:19517575)
• a statistically significant difference in PAX2 mRNA expression among ovarian tumors of low malignant potential, low-grade, and high-grade carcinoma samples (PMID:19525924)
• Renal recovery after injury: the role of Pax-2. Review. (PMID:19556301)
• PAX 2 is a promising new, sensitive, and specific mullerian immunomarker for ovarian serous carcinomas (primary and metastatic) (PMID:19851209)
• PAX2 distinguishes benign mesonephric and mullerian glandular lesions of the cervix from endocervical adenocarcinoma, including minimal deviation adenocarcinoma. (PMID:20061933)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pax2a	ENSDARG00000028148
danio_rerio	pax2b	ENSDARG00000032578
mus_musculus	Pax2	ENSMUSG00000004231
rattus_norvegicus	Pax2	ENSRNOG00000014253

Paralogs (50): ARX (ENSG00000004848), PAX6 (ENSG00000007372), PAX7 (ENSG00000009709), ALX4 (ENSG00000052850), GSC2 (ENSG00000063515), PITX1 (ENSG00000069011), RHOXF1 (ENSG00000101883), CRX (ENSG00000105392), EVX1 (ENSG00000106038), PAX4 (ENSG00000106331), NOBOX (ENSG00000106410), PITX3 (ENSG00000107859), PHOX2B (ENSG00000109132), OTX1 (ENSG00000115507), PRRX1 (ENSG00000116132), VSX2 (ENSG00000119614), ESX1 (ENSG00000123576), PAX8 (ENSG00000125618), PAX1 (ENSG00000125813), RHOXF2 (ENSG00000131721), GSC (ENSG00000133937), RAX (ENSG00000134438), PAX3 (ENSG00000135903), ALX3 (ENSG00000156150), HESX1 (ENSG00000163666), PITX2 (ENSG00000164093), UNCX (ENSG00000164853), PHOX2A (ENSG00000165462), OTX2 (ENSG00000165588), DRGX (ENSG00000165606), PRRX2 (ENSG00000167157), SHOX2 (ENSG00000168779), OTP (ENSG00000171540), RAX2 (ENSG00000173976), EVX2 (ENSG00000174279), PROP1 (ENSG00000175325), ISX (ENSG00000175329), ALX1 (ENSG00000180318), MIXL1 (ENSG00000185155), SHOX (ENSG00000185960)

Protein

Protein identifiers

Paired box protein Pax-2 — Q02962 (reviewed: Q02962)

All UniProt accessions (7): Q02962, A0A0A0MRH7, A0A7P0TAC9, A0A9L9PXU6, A0A9L9PYK3, G3V5S4, Q5SZP1

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that may have a role in kidney cell differentiation. Has a critical role in the development of the urogenital tract, the eyes, and the CNS.

Subunit / interactions. Interacts with ELGN3; the interaction targets PAX2 for destruction. Interacts with TLE4.

Subcellular location. Nucleus.

Tissue specificity. Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system.

Disease relevance. Papillorenal syndrome (PAPRS) [MIM:120330] An autosomal dominant disorder characterized by both ocular and renal anomalies, but may also include vesicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and/or genital anomalies. Eye anomalies in this disorder consist of a wide and sometimes excavated dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, designated optic nerve coloboma or ‘morning glory’ anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease. The disease is caused by variants affecting the gene represented in this entry. Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002] A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (4)

UniProt ID	Names	Canonical?
Q02962-1	1	yes
Q02962-2	2, Fetal kidney
Q02962-3	3
Q02962-4	4

RefSeq proteins (6): NP_000269, NP_001291498, NP_003978, NP_003979, NP_003980, NP_003981 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001523	Paired_dom	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR022130	Pax2_C	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR043182	PAIRED_DNA-bd_site	Conserved_site
IPR043565	PAX_fam	Family

Pfam: PF00292, PF12403

UniProt features (45 total): sequence variant 33, region of interest 3, sequence conflict 3, splice variant 2, chain 1, DNA-binding region 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q02962-F1	61.52	0.27

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 226

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9761174	Formation of intermediate mesoderm
R-HSA-9830364	Formation of the nephric duct
R-HSA-9830674	Formation of the ureteric bud
R-HSA-9831926	Nephron development

MSigDB gene sets: 525 (showing top): GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, AHRARNT_01, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_METANEPHRIC_NEPHRON_MORPHOGENESIS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_URETER_DEVELOPMENT, GOBP_SOMATIC_STEM_CELL_POPULATION_MAINTENANCE, BENPORATH_ES_WITH_H3K27ME3, GGTGTGT_MIR329, MYOGENIN_Q6, GOBP_METANEPHROS_DEVELOPMENT, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, GOBP_MESENCHYMAL_TO_EPITHELIAL_TRANSITION

GO Biological Process (61): urogenital system development (GO:0001655), branching involved in ureteric bud morphogenesis (GO:0001658), cell fate determination (GO:0001709), mesonephros development (GO:0001823), neural tube closure (GO:0001843), optic cup morphogenesis involved in camera-type eye development (GO:0002072), mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337), retinal pigment epithelium development (GO:0003406), regulation of transcription by RNA polymerase II (GO:0006357), nervous system development (GO:0007399), axonogenesis (GO:0007409), sensory organ development (GO:0007423), mesodermal cell fate specification (GO:0007501), visual perception (GO:0007601), glial cell differentiation (GO:0010001), optic nerve development (GO:0021554), optic nerve morphogenesis (GO:0021631), optic nerve structural organization (GO:0021633), vestibulocochlear nerve formation (GO:0021650), regulation of metanephros size (GO:0035566), ureter maturation (GO:0035799), pronephric field specification (GO:0039003), inner ear morphogenesis (GO:0042472), camera-type eye development (GO:0043010), negative regulation of apoptotic process (GO:0043066), negative regulation of programmed cell death (GO:0043069), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), pronephros development (GO:0048793), brain morphogenesis (GO:0048854), stem cell differentiation (GO:0048863), positive regulation of epithelial cell proliferation (GO:0050679), mesenchymal to epithelial transition (GO:0060231), optic chiasma development (GO:0061360), cellular response to retinoic acid (GO:0071300), cellular response to glucose stimulus (GO:0071333), metanephric mesenchyme development (GO:0072075), positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108), metanephric mesenchymal cell differentiation (GO:0072162)

GO Molecular Function (9): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), cis-regulatory region sequence-specific DNA binding (GO:0000987), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), transcription factor binding (GO:0008134), sequence-specific double-stranded DNA binding (GO:1990837), protein binding (GO:0005515)

GO Cellular Component (7): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), microtubule organizing center (GO:0005815), protein-containing complex (GO:0032991), protein-DNA complex (GO:0032993), centriolar satellite (GO:0034451)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Kidney development	3
Gastrulation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
system development	2
metanephros morphogenesis	2
regulation of DNA-templated transcription	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
transcription cis-regulatory region binding	2
renal system development	1
branching morphogenesis of an epithelial tube	1
ureteric bud morphogenesis	1
cell fate commitment	1
cellular developmental process	1
kidney development	1
primary neural tube formation	1
tube closure	1
morphogenesis of embryonic epithelium	1
embryonic camera-type eye formation	1
epithelial cell differentiation involved in kidney development	1
mesenchymal to epithelial transition	1
metanephric renal vesicle morphogenesis	1
retina development in camera-type eye	1
epithelium development	1
transcription by RNA polymerase II	1
cell morphogenesis involved in neuron differentiation	1
neuron projection morphogenesis	1
axon development	1
animal organ development	1
cell fate specification	1
mesodermal cell fate commitment	1
sensory perception of light stimulus	1
cell differentiation	1
gliogenesis	1
cranial nerve development	1
optic nerve development	1
cranial nerve morphogenesis	1
cranial nerve structural organization	1
optic nerve morphogenesis	1
cranial nerve formation	1
vestibulocochlear nerve morphogenesis	1
regulation of kidney size	1
transcription regulatory region nucleic acid binding	1

Protein interactions and networks

STRING

2094 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PAX2	PAXIP1	Q6ZW49	974
PAX2	TLX1	P31314	953
PAX2	EYA1	Q99502	872
PAX2	WT1	P19544	853
PAX2	EN1	Q05925	833
PAX2	SIX1	Q15475	832
PAX2	LMX1B	O60663	821
PAX2	OTX2	P32243	819
PAX2	GBX2	P52951	818
PAX2	OTX1	P32242	796
PAX2	EMX2	Q04743	788
PAX2	SIX2	Q9NPC8	784
PAX2	NPHS1	O60500	781
PAX2	HOXA11	P31270	757
PAX2	LHX1	P48742	756

IntAct

30 interactions, top by confidence:

A	B	Type	Score
PAX2	LMX1B	psi-mi:“MI:0915”(physical association)	0.510
NFIA	PAX2	psi-mi:“MI:0915”(physical association)	0.470
NFIB	PAX2	psi-mi:“MI:0915”(physical association)	0.470
BBS1	PAX2	psi-mi:“MI:0915”(physical association)	0.440
BBS4	PAX2	psi-mi:“MI:0915”(physical association)	0.440
PAX2	BBS2	psi-mi:“MI:0915”(physical association)	0.440
BBS7	PAX2	psi-mi:“MI:0915”(physical association)	0.440
PAX2	BBS1	psi-mi:“MI:0403”(colocalization)	0.440
BBS2	PAX2	psi-mi:“MI:0403”(colocalization)	0.440
PAX2	BBS4	psi-mi:“MI:0403”(colocalization)	0.440
PAX2	BBS7	psi-mi:“MI:0403”(colocalization)	0.440
NFIC	PAX2	psi-mi:“MI:0915”(physical association)	0.400
PAX2	PAX8	psi-mi:“MI:0915”(physical association)	0.400
PAX2	BEX1	psi-mi:“MI:0915”(physical association)	0.370
PAX2	BLID	psi-mi:“MI:0915”(physical association)	0.370
PAX2	GLCE	psi-mi:“MI:0915”(physical association)	0.370
PAX2	IL13RA2	psi-mi:“MI:0915”(physical association)	0.370
KLK6	PAX2	psi-mi:“MI:0915”(physical association)	0.370
PAX2	KLK9	psi-mi:“MI:0915”(physical association)	0.370
MRC2	PAX2	psi-mi:“MI:0915”(physical association)	0.370
PAX2	PRDM14	psi-mi:“MI:0915”(physical association)	0.370
RASL10B	PAX2	psi-mi:“MI:0915”(physical association)	0.370
PAX2	SNAI1	psi-mi:“MI:0915”(physical association)	0.370
TRIM25	PAX2	psi-mi:“MI:0915”(physical association)	0.370
VPS45	PAX2	psi-mi:“MI:0915”(physical association)	0.370
NSD3	PAX2	psi-mi:“MI:0915”(physical association)	0.370
PAX2	BCL9	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (84): BEX1 (Two-hybrid), BLID (Two-hybrid), GLCE (Two-hybrid), IL13RA2 (Two-hybrid), KLK6 (Two-hybrid), KLK9 (Two-hybrid), MRC2 (Two-hybrid), PRDM14 (Two-hybrid), RASL10B (Two-hybrid), SNAI1 (Two-hybrid), TRIM25 (Two-hybrid), VPS45 (Two-hybrid), WHSC1L1 (Two-hybrid), PAX2 (Affinity Capture-RNA), PAX2 (Biochemical Activity)

ESM2 similar proteins: A0JMA6, O08656, O57682, O57685, P06601, P09022, P23759, P23760, P24610, P32114, P47239, P47240, P47242, P49639, P51974, P55166, P55771, P70056, Q00288, Q02548, Q02650, Q02962, Q06710, Q0IH87, Q28D67, Q28DP6, Q2L4T2, Q2VL50, Q2VL51, Q2VL52, Q2VL53, Q2VL54, Q2VL57, Q2VL58, Q2VL59, Q2VL60, Q2VL62, Q32NP8, Q5R9M8, Q645N4

Diamond homologs: A0JMA6, G5ED14, G5ED66, G5EDS1, O18381, O43316, O57682, O57685, O73917, O88436, P06601, P09082, P09083, P09084, P15863, P23757, P23758, P23759, P23760, P24610, P26367, P26630, P32114, P32115, P47236, P47238, P47239, P47240, P47242, P51974, P55166, P55771, P55864, P63015, P63016, Q00288, Q02548, Q02650, Q02962, Q06710

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
TLE4	“down-regulates activity”	PAX2	binding
PAXIP1	“up-regulates activity”	PAX2	binding
PPM1B	“down-regulates activity”	PAX2	dephosphorylation
PAX2	“form complex”	PAX2/TLE4	binding
PAX2	“up-regulates quantity by expression”	WT1	“transcriptional regulation”
AGTR1	“up-regulates quantity by expression”	PAX2	“transcriptional regulation”
ROS	“up-regulates quantity by expression”	PAX2
WT1	“down-regulates quantity by repression”	PAX2	“transcriptional regulation”
PAX2	“up-regulates activity”	Urogenital_tract

Disease & clinical

Clinical variants and AI predictions

ClinVar

633 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	66
Likely pathogenic	73
Uncertain significance	252
Likely benign	160
Benign	40

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1066591	NM_000278.5(PAX2):c.418C>T (p.Arg140Trp)	Pathogenic
1072594	NM_000278.5(PAX2):c.906C>A (p.Tyr302Ter)	Pathogenic
1073074	NC_000010.10:g.(?102566167)(102566382_?)del	Pathogenic
1076561	NM_000278.5(PAX2):c.430C>T (p.Gln144Ter)	Pathogenic
1179209	GRCh37/hg19 10q24.31(chr10:102568846-102589718)	Pathogenic
1301902	NM_000278.5(PAX2):c.310C>T (p.Arg104Ter)	Pathogenic
1323415	NM_000278.5(PAX2):c.34_43+26delinsTGT	Pathogenic
13795	NM_000278.5(PAX2):c.561del (p.Asn188fs)	Pathogenic
13797	NM_000278.5(PAX2):c.131_152del (p.Leu44fs)	Pathogenic
13798	PAX2, 6-BP DEL	Pathogenic
13801	NM_000278.5(PAX2):c.76del (p.Val26fs)	Pathogenic
13802	NM_000278.5(PAX2):c.75_76dup (p.Val26fs)	Pathogenic
13803	NM_000278.5(PAX2):c.954C>A (p.Tyr318Ter)	Pathogenic
13805	NM_000278.5(PAX2):c.212G>C (p.Arg71Thr)	Pathogenic
1419850	NM_000278.5(PAX2):c.785C>A (p.Ser262Ter)	Pathogenic
155928	NM_000278.5(PAX2):c.565G>A (p.Gly189Arg)	Pathogenic
156294	NM_000278.5(PAX2):c.685C>T (p.Arg229Ter)	Pathogenic
156296	NM_000278.5(PAX2):c.706C>T (p.Gln236Ter)	Pathogenic
156297	NM_000278.5(PAX2):c.76dup (p.Val26fs)	Pathogenic
1686004	NM_000278.5(PAX2):c.756_792+4del	Pathogenic
1705469	NM_000278.5(PAX2):c.409A>T (p.Arg137Ter)	Pathogenic
1710335	NM_000278.5(PAX2):c.389_390insTGCT (p.Ser131fs)	Pathogenic
1879142	NM_000278.5(PAX2):c.69del (p.Val26fs)	Pathogenic
1938485	NM_000278.5(PAX2):c.750C>A (p.Tyr250Ter)	Pathogenic
2022166	NM_000278.5(PAX2):c.227dup (p.Ser77fs)	Pathogenic
2024087	NM_000278.5(PAX2):c.115del (p.Gln39fs)	Pathogenic
2027274	NM_000278.5(PAX2):c.225del (p.Gly76fs)	Pathogenic
2032137	NM_000278.5(PAX2):c.97del (p.Leu33fs)	Pathogenic
2117050	NM_000278.5(PAX2):c.43+1G>A	Pathogenic
2129979	NM_000278.5(PAX2):c.242del (p.Gly81fs)	Pathogenic

SpliceAI

2136 predictions. Top by Δscore:

Variant	Effect	Δscore
10:100746299:GCACC:G	donor_gain	1.0000
10:100746304:G:GG	donor_gain	1.0000
10:100750686:C:CA	acceptor_gain	1.0000
10:100750689:CGCA:C	acceptor_loss	1.0000
10:100750690:GCAG:G	acceptor_loss	1.0000
10:100750888:ACAGG:A	donor_loss	1.0000
10:100750889:CAGGT:C	donor_loss	1.0000
10:100750890:AGG:A	donor_loss	1.0000
10:100750892:G:GG	donor_gain	1.0000
10:100781244:A:AG	acceptor_gain	1.0000
10:100781245:G:GA	acceptor_gain	1.0000
10:100806429:GAT:G	acceptor_gain	1.0000
10:100806429:GATGT:G	acceptor_gain	1.0000
10:100806606:G:A	donor_loss	1.0000
10:100806607:T:G	donor_loss	1.0000
10:100827096:G:GG	donor_gain	1.0000
10:100745898:G:T	donor_gain	0.9900
10:100746096:G:GT	donor_gain	0.9900
10:100746301:ACCGT:A	donor_loss	0.9900
10:100746302:CC:C	donor_gain	0.9900
10:100746302:CCG:C	donor_loss	0.9900
10:100746303:CG:C	donor_loss	0.9900
10:100746305:T:TC	donor_loss	0.9900
10:100746306:G:GT	donor_loss	0.9900
10:100746307:AGTA:A	donor_loss	0.9900
10:100750689:C:CA	acceptor_gain	0.9900
10:100750692:A:AG	acceptor_gain	0.9900
10:100750693:G:GG	acceptor_gain	0.9900
10:100750888:ACAG:A	donor_gain	0.9900
10:100750893:T:G	donor_loss	0.9900

AlphaMissense

2548 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:100749765:C:A	N21K	1.000
10:100749765:C:G	N21K	1.000
10:100749768:G:C	Q22H	1.000
10:100749768:G:T	Q22H	1.000
10:100749770:T:A	L23H	1.000
10:100749770:T:C	L23P	1.000
10:100749772:G:A	G24R	1.000
10:100749772:G:C	G24R	1.000
10:100749772:G:T	G24W	1.000
10:100749773:G:A	G24E	1.000
10:100749773:G:T	G24V	1.000
10:100749775:G:A	G25R	1.000
10:100749775:G:C	G25R	1.000
10:100749775:G:T	G25W	1.000
10:100749776:G:A	G25E	1.000
10:100749781:T:A	F27I	1.000
10:100749781:T:C	F27L	1.000
10:100749781:T:G	F27V	1.000
10:100749782:T:C	F27S	1.000
10:100749782:T:G	F27C	1.000
10:100749783:T:A	F27L	1.000
10:100749783:T:G	F27L	1.000
10:100749789:C:A	N29K	1.000
10:100749789:C:G	N29K	1.000
10:100749790:G:C	G30R	1.000
10:100749790:G:T	G30C	1.000
10:100749791:G:A	G30D	1.000
10:100749791:G:C	G30A	1.000
10:100749791:G:T	G30V	1.000
10:100749796:C:T	P32S	1.000

dbSNP variants (sampled 300 via entrez): RS1000003793 (10:100785056 A>G), RS1000043670 (10:100751315 C>T), RS1000049114 (10:100745608 C>A,G,T), RS1000097188 (10:100751531 G>T), RS1000103369 (10:100739757 C>T), RS1000114302 (10:100746898 G>A), RS1000216645 (10:100786155 T>C), RS1000301893 (10:100803271 C>A), RS1000386929 (10:100828407 CT>C), RS1000420371 (10:100745789 C>T), RS1000454280 (10:100755806 C>T), RS1000500522 (10:100787208 G>C), RS1000511848 (10:100792102 T>C), RS1000555373 (10:100787584 G>A), RS1000560618 (10:100759907 C>G)

Disease associations

OMIM: gene MIM:167409 | disease phenotypes: MIM:120330, MIM:616002, MIM:610805, MIM:137920

GenCC curated gene-disease

Disease	Classification	Inheritance
focal segmental glomerulosclerosis 7	Definitive	Autosomal dominant
renal coloboma syndrome	Definitive	Autosomal dominant
familial idiopathic steroid-resistant nephrotic syndrome	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
focal segmental glomerulosclerosis 7	Definitive	AD

Mondo (15): renal coloboma syndrome (MONDO:0007352), focal segmental glomerulosclerosis 7 (MONDO:0014451), inherited retinal dystrophy (MONDO:0019118), renal hypoplasia (MONDO:0019637), steroid-resistant nephrotic syndrome (MONDO:0044765), focal segmental glomerulosclerosis (MONDO:0100313), glomerulosclerosis (MONDO:0000490), congenital anomaly of kidney and urinary tract (MONDO:0019719), coloboma (MONDO:0001476), renal cysts and diabetes syndrome (MONDO:0007669), optic atrophy (MONDO:0003608), congenital anomalies of kidney and urinary tract 1 (MONDO:0012561), cystic kidney disease (MONDO:0002473), nephrotic syndrome (MONDO:0005377), familial idiopathic steroid-resistant nephrotic syndrome (MONDO:0019006)

Orphanet (7): Renal coloboma syndrome (Orphanet:1475), Hereditary steroid-resistant nephrotic syndrome (Orphanet:656), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Renal hypoplasia (Orphanet:93101), Renal or urinary tract malformation (Orphanet:93545), OBSOLETE: Ocular coloboma (Orphanet:194), HNF1B-related autosomal dominant tubulointerstitial kidney disease (Orphanet:93111)

HPO phenotypes

88 total (30 of 88 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000006	Autosomal dominant inheritance
HP:0000028	Cryptorchidism
HP:0000076	Vesicoureteral reflux
HP:0000083	Renal insufficiency
HP:0000085	Horseshoe kidney
HP:0000089	Renal hypoplasia
HP:0000093	Proteinuria
HP:0000097	Focal segmental glomerulosclerosis
HP:0000100	Nephrotic syndrome
HP:0000107	Renal cyst
HP:0000110	Renal dysplasia
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000480	Retinal coloboma
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000505	Visual impairment
HP:0000518	Cataract
HP:0000533	Chorioretinal atrophy
HP:0000540	Hypermetropia
HP:0000541	Retinal detachment
HP:0000545	Myopia
HP:0000568	Microphthalmia
HP:0000588	Optic disc coloboma
HP:0000608	Macular degeneration
HP:0000639	Nystagmus
HP:0000707	Abnormality of the nervous system
HP:0000737	Irritability
HP:0000787	Nephrolithiasis

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST000484_1	Alzheimer’s disease	6.000000e-06
GCST004279_30	Systolic blood pressure	4.000000e-18
GCST004495_72	BMI (adjusted for smoking behaviour)	2.000000e-06
GCST004497_28	Body mass index (joint analysis main effects and smoking interaction)	2.000000e-06
GCST004904_191	Body mass index	1.000000e-09
GCST004904_230	Body mass index	2.000000e-15
GCST005787_22	Heart rate response to exercise	1.000000e-11
GCST005788_22	Heart rate response to recovery post exercise	7.000000e-15
GCST005845_6	Heart rate increase in response to exercise	1.000000e-14
GCST005846_10	Heart rate response to recovery post exercise (10 sec)	2.000000e-09
GCST005847_12	Heart rate response to recovery post exercise (20 sec)	2.000000e-15
GCST005848_18	Heart rate response to recovery post exercise (50 sec)	6.000000e-17
GCST005849_3	Heart rate response to recovery post exercise (40 sec)	1.000000e-17
GCST005850_9	Heart rate response to recovery post exercise (30 sec)	3.000000e-15
GCST006921_7	Regular attendance at a pub or social club	1.000000e-08
GCST007094_213	Diastolic blood pressure	1.000000e-11
GCST007099_108	Systolic blood pressure	2.000000e-11
GCST007129_2	Cerebrospinal fluid t-tau:AB1-42 ratio	5.000000e-09
GCST007267_56	Systolic blood pressure	2.000000e-12
GCST008522_12	Bitter alcoholic beverage consumption	1.000000e-07
GCST008811_37	Alcohol consumption (drinks per week)	7.000000e-09
GCST010002_298	Refractive error	3.000000e-22
GCST010988_448	Adult body size	1.000000e-14
GCST010989_89	Body size at age 10	1.000000e-18

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0004318	smoking behavior
EFO:0004340	body mass index
EFO:0009184	heart rate response to exercise
EFO:0009185	heart rate response to recovery post exercise
EFO:0009592	social interaction measurement
EFO:0006336	diastolic blood pressure
EFO:0007708	t-tau:beta-amyloid 1-42 ratio measurement
EFO:0010092	bitter alcoholic beverage consumption measurement
EFO:0009819	comparative body size at age 10, self-reported

MeSH disease descriptors (10)

Descriptor	Name	Tree numbers
D003103	Coloboma	C11.250.110; C11.270.147; C16.131.384.282
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
D052177	Kidney Diseases, Cystic	C12.050.351.968.419.403; C12.200.777.419.403; C12.950.419.403
D009404	Nephrotic Syndrome	C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D058499	Retinal Dystrophies	C11.768.585.658
C566906	Cakut (supp.)
C537168	Papillorenal syndrome (supp.)
C563661	Renal Hypodysplasia, Nonsyndromic, 1 (supp.)
C535520	Renal cysts and diabetes syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5465301 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.82	IC50	1500	nM	CHEMBL5414180

PubChem BioAssay actives

3 with measured affinity, of 3 total; 2 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
2-[[4-[(2-methoxybenzoyl)amino]benzoyl]amino]benzoic acid	1802505: Biolayer Interferometry Binding Assay from Article 10.1021/acschembio.6b00782: “Inhibition of Pax2 Transcription Activation with a Small Molecule that Targets the DNA Binding Domain.”	kd	1.3500	uM
7-[4-(2,5-dimethylphenyl)piperazin-1-yl]-5,6-dimethyl-[1,2,4]triazolo[1,5-a]pyrimidine	1995226: Inhibition of pax2 (unknown origin) in human SK-OV-3 cells measured after 24 hrs by immunoblotting analysis	ic50	1.5000	uM

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	affects methylation	2
Cadmium	decreases expression, increases expression	2
Valproic Acid	affects expression, increases methylation	2
aristolochic acid I	decreases expression	1
bisphenol A	affects methylation, affects cotreatment, decreases methylation	1
trichostatin A	increases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Lead	affects expression	1
Methapyrilene	decreases methylation	1
Pesticides	affects methylation	1
Testosterone	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Asbestos, Serpentine	increases methylation	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5348353	Binding	Inhibition of pax2 (unknown origin) in human SK-OV-3 cells measured after 24 hrs by immunoblotting analysis	Triazole-fused pyrimidines in target-based anticancer drug discovery. — Eur J Med Chem

Cellosaurus cell lines

6 cell lines: 3 embryonic stem cell, 3 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A5C9	SEES3-1V human PAX2, clone1	Embryonic stem cell	Male
CVCL_A5D0	SEES3-1V human PAX2, clone2	Embryonic stem cell	Male
CVCL_A5D1	SEES3-1V human PAX2, clone3	Embryonic stem cell	Male
CVCL_C9JM	SDQLCHi062-A	Induced pluripotent stem cell	Male
CVCL_UJ77	IRFMNi002-B	Induced pluripotent stem cell	Female
CVCL_VL43	IRFMNi002-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

127 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03408405	PHASE4	WITHDRAWN	ACTHAR Gel for Drug REsistant Nephrotic Syndrome in Children
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
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
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)
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
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
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