TBC1D8B

Summary

TBC1D8B (TBC1 domain family member 8B, HGNC:24715) is a protein-coding gene on chromosome Xq22.3, encoding TBC1 domain family member 8B (Q0IIM8). Involved in vesicular recycling, probably as a RAB11B GTPase-activating protein.

This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 54885 — RefSeq curated summary.

At a glance

• Gene–disease (curated): nephrotic syndrome, type 20 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 4
• Clinical variants (ClinVar): 466 total — 4 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 24
• MANE Select transcript: NM_017752

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24715
Approved symbol	TBC1D8B
Name	TBC1 domain family member 8B
Location	Xq22.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20298, RP11-321G1.1, GRAMD8B
Ensembl gene	ENSG00000133138
Ensembl biotype	protein_coding
OMIM	301027
Entrez	54885

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron

ENST00000276175, ENST00000310452, ENST00000357242, ENST00000431860, ENST00000460545, ENST00000481617, ENST00000492970, ENST00000870315, ENST00000870316

RefSeq mRNA: 2 — MANE Select: NM_017752 NM_017752, NM_198881

CCDS: CCDS14522, CCDS14523

Canonical transcript exons

ENST00000357242 — 21 exons

Exon	Start	End
ENSE00000866496	106868393	106868476
ENSE00001092571	106865793	106866033
ENSE00001272114	106865559	106865627
ENSE00001272126	106854198	106854296
ENSE00001272136	106853521	106853650
ENSE00001458002	106802673	106802983
ENSE00001606109	106839308	106839457
ENSE00001611676	106826030	106826237
ENSE00001619661	106823226	106823466
ENSE00001626203	106870716	106870813
ENSE00001638787	106840048	106840198
ENSE00001677284	106818663	106818773
ENSE00001680911	106821977	106822202
ENSE00001730096	106848186	106848303
ENSE00001749105	106850025	106850310
ENSE00001782358	106827170	106827337
ENSE00001782789	106840670	106840884
ENSE00001797423	106873570	106876150
ENSE00002719302	106869485	106869541
ENSE00003480472	106866797	106866862
ENSE00003609108	106820877	106820995

Expression profiles

Bgee: expression breadth ubiquitous, 237 present calls, max score 85.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.3664 / max 135.4164, expressed in 1131 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197169	3.3664	1131

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland cortex	UBERON:0035827	85.97	gold quality
right adrenal gland	UBERON:0001233	85.77	gold quality
left adrenal gland cortex	UBERON:0035825	85.74	gold quality
left adrenal gland	UBERON:0001234	85.69	gold quality
stromal cell of endometrium	CL:0002255	85.68	gold quality
adrenal cortex	UBERON:0001235	85.60	gold quality
adrenal gland	UBERON:0002369	85.21	gold quality
tibia	UBERON:0000979	85.20	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.93	gold quality
adrenal tissue	UBERON:0018303	84.83	gold quality
buccal mucosa cell	CL:0002336	83.76	gold quality
jejunal mucosa	UBERON:0000399	81.99	gold quality
islet of Langerhans	UBERON:0000006	80.84	gold quality
body of pancreas	UBERON:0001150	78.95	gold quality
pancreas	UBERON:0001264	78.79	gold quality
calcaneal tendon	UBERON:0003701	78.57	gold quality
seminal vesicle	UBERON:0000998	78.46	gold quality
rectum	UBERON:0001052	77.64	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.19	gold quality
gall bladder	UBERON:0002110	77.15	gold quality
pituitary gland	UBERON:0000007	76.78	gold quality
colonic epithelium	UBERON:0000397	76.57	gold quality
adenohypophysis	UBERON:0002196	76.21	gold quality
mucosa of paranasal sinus	UBERON:0005030	75.93	gold quality
right lobe of liver	UBERON:0001114	75.55	gold quality
duodenum	UBERON:0002114	75.03	gold quality
liver	UBERON:0002107	74.52	gold quality
right lobe of thyroid gland	UBERON:0001119	74.18	gold quality
thyroid gland	UBERON:0002046	73.74	gold quality
left lobe of thyroid gland	UBERON:0001120	73.68	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8205	yes	556.88
E-ANND-3	yes	6.74
E-CURD-135	no	3616.95
E-GEOD-150728	no	2684.21
E-CURD-97	no	788.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

171 targeting TBC1D8B, 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-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-548AN	99.97	70.91	2817

Literature-anchored findings (GeneRIF, showing 4)

• results confirmed that pathogenic variations in TBC1D8B are involved in X-linked podocytopathy and points to alterations in recycling processes as a mechanism of steroid-resistant nephrotic syndrome (PMID:30661770)
• TBC1D8B mutations were found in 5 families with nephrotic syndrome: 2 premature stop codons (c.1030C>T, p.Arg344* and c.1383G>A, p.Trp461*), 3 missense mutations (c.2338A>T, p.Thr780Ser, c.1316T>G, p.Phe439Cys, and c.190C>T, p.Arg64Cys). TBC1D8B plays a regulatory role by inhibiting endogenous RAB11. It interacts with nephrin. (PMID:31732614)
• TBC1D8B, a GTPase-activating protein, is a novel apoptosis inducer. (PMID:34092754)
• A human-specific insertion promotes cell proliferation and migration by enhancing TBC1D8B expression. (PMID:38110796)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tbc1d8b	ENSDARG00000062192
mus_musculus	Tbc1d8b	ENSMUSG00000042473
rattus_norvegicus	Tbc1d8b	ENSRNOG00000054011

Paralogs (45): RABGAP1 (ENSG00000011454), TBC1D22A (ENSG00000054611), TBC1D22B (ENSG00000065491), TBC1D1 (ENSG00000065882), EVI5 (ENSG00000067208), TBC1D25 (ENSG00000068354), TBC1D2 (ENSG00000095383), TBC1D10A (ENSG00000099992), SGSM3 (ENSG00000100359), TBC1D17 (ENSG00000104946), TBC1D13 (ENSG00000107021), TBC1D12 (ENSG00000108239), TBC1D9 (ENSG00000109436), TBC1D30 (ENSG00000111490), TBC1D15 (ENSG00000121749), TBC1D5 (ENSG00000131374), TBC1D14 (ENSG00000132405), TBC1D4 (ENSG00000136111), GRTP1 (ENSG00000139835), SGSM2 (ENSG00000141258), EVI5L (ENSG00000142459), TBCK (ENSG00000145348), USP6NL (ENSG00000148429), RABGAP1L (ENSG00000152061), SGSM1 (ENSG00000167037), TBC1D21 (ENSG00000167139), TBC1D2B (ENSG00000167202), TBC1D16 (ENSG00000167291), TBC1D10B (ENSG00000169221), TBC1D10C (ENSG00000175463), TBC1D28 (ENSG00000189375), TBC1D9B (ENSG00000197226), TBC1D8 (ENSG00000204634), TBC1D26 (ENSG00000214946), TBC1D3G (ENSG00000260287), TBC1D3K (ENSG00000273513), TBC1D3H (ENSG00000274226), TBC1D3D (ENSG00000274419), TBC1D3L (ENSG00000274512), TBC1D3 (ENSG00000274611)

Protein

Protein identifiers

TBC1 domain family member 8B — Q0IIM8 (reviewed: Q0IIM8)

All UniProt accessions (5): D6RC82, D6RFZ2, Q0IIM8, H0Y552, J3KN75

UniProt curated annotations — full annotation on UniProt →

Function. Involved in vesicular recycling, probably as a RAB11B GTPase-activating protein.

Subunit / interactions. Interacts (via domain Rab-GAP TBC) with RAB11B (in GTP-bound form).

Subcellular location. Cytoplasm. Cytosol.

Tissue specificity. Kidney (at protein level).

Disease relevance. Nephrotic syndrome 20 (NPHS20) [MIM:301028] 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 that progresses to end-stage renal failure. NPHS20 is an X-linked, steroid-resistant form with onset at birth or in the first years of life in affected males. Death in childhood may occur in absence of renal transplantation. Carrier females may be unaffected or have a mild disease with proteinuria. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab’s ‘switch 2’ glutamine and insert in Rab’s active site.

Isoforms (3)

UniProt ID	Names	Canonical?
Q0IIM8-1	1	yes
Q0IIM8-2	2
Q0IIM8-3	3

RefSeq proteins (2): NP_060222, NP_942582 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000195	Rab-GAP-TBC_dom	Domain
IPR002048	EF_hand_dom	Domain
IPR004182	GRAM	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR035969	Rab-GAP_TBC_sf	Homologous_superfamily
IPR036012	TBC1D8B_PH-GRAM1	Domain
IPR036015	TBC1D8B_PH-GRAM2	Domain

Pfam: PF00566, PF02893

UniProt features (16 total): domain 4, splice variant 3, sequence variant 2, sequence conflict 2, site 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q0IIM8-F1	79.33	0.39

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 (2): 534 (arginine finger); 573 (glutamine finger)

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-432722	Golgi Associated Vesicle Biogenesis
R-HSA-199991	Membrane Trafficking
R-HSA-199992	trans-Golgi Network Vesicle Budding
R-HSA-5653656	Vesicle-mediated transport

MSigDB gene sets: 225 (showing top): MODULE_255, MODULE_317, MODULE_128, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, AACWWCAANK_UNKNOWN, CTCTAGA_MIR526C_MIR518F_MIR526A, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, HIF1_Q3, AACTTT_UNKNOWN, MAF_Q6, HOOI_ST7_TARGETS_DN, MODULE_48, MODULE_95

GO Biological Process (2): glomerular filtration (GO:0003094), vesicle-mediated transport (GO:0016192)

GO Molecular Function (3): GTPase activator activity (GO:0005096), calcium ion binding (GO:0005509), protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
trans-Golgi Network Vesicle Budding	1
Vesicle-mediated transport	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
renal filtration	1
transport	1
cellular process	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
metal ion binding	1
binding	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

796 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TBC1D8B	ANKFY1	Q9P2R3	690
TBC1D8B	GAPVD1	Q14C86	643
TBC1D8B	TBC1D20	Q96BZ9	591
TBC1D8B	TBC1D21	Q8IYX1	540
TBC1D8B	TBC1D22A	Q8WUA7	539
TBC1D8B	TBC1D25	Q3MII6	502
TBC1D8B	CDC16	Q13042	476
TBC1D8B	TBC1D5	Q92609	462
TBC1D8B	TBCA	O75347	440
TBC1D8B	OR8B12	Q8NGG6	433
TBC1D8B	SMIM19	Q96E16	431
TBC1D8B	TBC1D23	Q9NUY8	429
TBC1D8B	ERI2	A8K979	422
TBC1D8B	TBC1D13	Q9NVG8	421
TBC1D8B	ARL8A	Q96BM9	419
TBC1D8B	RAB43	Q86YS6	419

IntAct

6 interactions, top by confidence:

A	B	Type	Score
RAB8A	WDR91	psi-mi:“MI:0914”(association)	0.600
ILVBL	SLC33A1	psi-mi:“MI:0914”(association)	0.530
SLC35E1	IPO8	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): TBC1D8B (Affinity Capture-MS), TBC1D8B (Affinity Capture-MS), TBC1D8B (Affinity Capture-MS), TBC1D8B (Affinity Capture-MS), TBC1D8B (Affinity Capture-MS), TBC1D8B (Protein-peptide), TBC1D8B (Affinity Capture-MS)

ESM2 similar proteins: A0A078BQP2, A0A131MCZ8, A0JN54, A3KGB4, A3QM97, A8WPG9, G5ED05, O16715, O88673, P11528, P20192, P23743, P23897, P25092, P30733, P33530, P49619, P49620, P49621, P51556, P55141, P55204, P70106, P90895, P91550, Q03603, Q09435, Q0IIM8, Q10029, Q17586, Q19954, Q22949, Q23681, Q3UWA6, Q4V339, Q4V3C7, Q5JTY5, Q5RIA9, Q618H8, Q67XQ0

Diamond homologs: A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A2AWA9, A3KGB4, A6H6A9, A6NDS4, A6NER0, A6QP29, B0R0W9, B7ZAP0, B9A6J9, H2KZZ6, O60343, O60447, O95759, O97790, P0C7X1, P35125, P58802, P97366, Q0IIM8, Q10496, Q12317, Q12344, Q28CB1, Q3UYK3, Q4KMP7, Q5R372, Q5RAN1, Q5RCW6, Q5SVR0, Q5TC63, Q5ZJ17, Q60949, Q66K14, Q6DHY5, Q6IPX1, Q6ZT07

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	5
Uncertain significance	179
Likely benign	48
Benign	27

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1013501	NM_017752.3(TBC1D8B):c.2338A>T (p.Thr780Ser)	Pathogenic
1013502	NM_017752.3(TBC1D8B):c.190C>T (p.Arg64Cys)	Pathogenic
1013503	NM_017752.3(TBC1D8B):c.1383G>A (p.Trp461Ter)	Pathogenic
4819038	NM_017752.3(TBC1D8B):c.1463_1467del (p.Ile488fs)	Pathogenic
3066339	NM_017752.3(TBC1D8B):c.421C>T (p.Arg141Ter)	Likely pathogenic
3338671	NM_017752.3(TBC1D8B):c.2091del (p.Asp698fs)	Likely pathogenic
3894571	NM_017752.3(TBC1D8B):c.607del (p.Asp203fs)	Likely pathogenic
635779	NM_017752.3(TBC1D8B):c.738G>C (p.Gln246His)	Likely pathogenic
635780	NM_017752.3(TBC1D8B):c.872T>C (p.Phe291Ser)	Likely pathogenic

SpliceAI

3628 predictions. Top by Δscore:

Variant	Effect	Δscore
X:106818653:A:AG	acceptor_gain	1.0000
X:106818658:A:AG	acceptor_gain	1.0000
X:106818658:AACAG:A	acceptor_gain	1.0000
X:106818659:A:G	acceptor_gain	1.0000
X:106818660:CAGG:C	acceptor_loss	1.0000
X:106818661:A:AG	acceptor_gain	1.0000
X:106818661:AG:A	acceptor_gain	1.0000
X:106818661:AGG:A	acceptor_gain	1.0000
X:106818662:G:GT	acceptor_gain	1.0000
X:106818662:GG:G	acceptor_gain	1.0000
X:106818662:GGG:G	acceptor_gain	1.0000
X:106818771:GTG:G	donor_gain	1.0000
X:106818771:GTGGT:G	donor_loss	1.0000
X:106818772:TG:T	donor_gain	1.0000
X:106818772:TGG:T	donor_loss	1.0000
X:106818773:GG:G	donor_gain	1.0000
X:106818774:G:GG	donor_gain	1.0000
X:106818775:T:G	donor_loss	1.0000
X:106820994:GA:G	donor_gain	1.0000
X:106820996:G:GG	donor_gain	1.0000
X:106822087:GAA:G	donor_gain	1.0000
X:106822090:G:GG	donor_gain	1.0000
X:106840037:T:TA	acceptor_gain	1.0000
X:106840041:A:AG	acceptor_gain	1.0000
X:106840044:A:AG	acceptor_gain	1.0000
X:106840045:C:G	acceptor_gain	1.0000
X:106840046:A:AG	acceptor_gain	1.0000
X:106840046:A:AT	acceptor_loss	1.0000
X:106840046:AGTT:A	acceptor_gain	1.0000
X:106840047:G:GA	acceptor_gain	1.0000

AlphaMissense

7418 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:106802857:T:A	W2R	1.000
X:106802857:T:C	W2R	1.000
X:106818723:G:C	R64P	1.000
X:106823243:T:A	W202R	1.000
X:106823243:T:C	W202R	1.000
X:106840766:G:C	R534P	1.000
X:106840769:A:C	D535A	1.000
X:106840769:A:G	D535G	1.000
X:106840769:A:T	D535V	1.000
X:106840801:T:C	F546L	1.000
X:106840803:T:A	F546L	1.000
X:106840803:T:G	F546L	1.000
X:106840829:T:C	L555P	1.000
X:106840841:T:A	L559H	1.000
X:106840841:T:C	L559P	1.000
X:106840881:C:G	C572W	1.000
X:106848194:T:A	N576K	1.000
X:106848194:T:G	N576K	1.000
X:106850132:T:A	W649R	1.000
X:106850132:T:C	W649R	1.000
X:106802859:G:C	W2C	0.999
X:106802859:G:T	W2C	0.999
X:106802902:T:A	W17R	0.999
X:106802902:T:C	W17R	0.999
X:106802930:T:C	F26S	0.999
X:106802944:C:A	R31S	0.999
X:106818722:C:A	R64S	0.999
X:106818726:T:A	I65N	0.999
X:106818726:T:C	I65T	0.999
X:106818726:T:G	I65S	0.999

dbSNP variants (sampled 300 via entrez): RS1000108936 (X:106860601 A>G), RS1000109217 (X:106820304 G>T), RS1000180502 (X:106808684 G>A,C), RS1000226775 (X:106847300 T>A), RS1000272322 (X:106872876 G>A), RS1000285027 (X:106859081 C>T), RS1000310372 (X:106826470 T>C), RS1000328298 (X:106815434 G>A,C), RS1000480802 (X:106826911 T>C), RS1000488671 (X:106869329 G>A), RS1000488770 (X:106826313 C>G,T), RS1000683523 (X:106846970 G>C), RS1000739065 (X:106837432 A>G), RS1000756831 (X:106818349 T>C), RS1000782548 (X:106814900 T>C,G)

Disease associations

OMIM: gene MIM:301027 | disease phenotypes: MIM:301028

GenCC curated gene-disease

Disease	Classification	Inheritance
nephrotic syndrome, type 20	Strong	X-linked
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
nephrotic syndrome, type 20	Moderate	XL

Mondo (3): nephrotic syndrome, type 20 (MONDO:0026726), nephrotic syndrome (MONDO:0005377), familial idiopathic steroid-resistant nephrotic syndrome (MONDO:0019006)

Orphanet (0):

HPO phenotypes

24 total (24 of 24 shown, HPO-id order):

HPO	Term
HP:0000093	Proteinuria
HP:0000097	Focal segmental glomerulosclerosis
HP:0000707	Abnormality of the nervous system
HP:0000737	Irritability
HP:0000969	Edema
HP:0001417	X-linked inheritance
HP:0001945	Fever
HP:0001967	Diffuse mesangial sclerosis
HP:0002027	Abdominal pain
HP:0002315	Headache
HP:0002586	Peritonitis
HP:0003073	Hypoalbuminemia
HP:0003577	Congenital onset
HP:0003581	Adult onset
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0003774	Stage 5 chronic kidney disease
HP:0011463	Childhood onset
HP:0011947	Respiratory tract infection
HP:0012579	Minimal change glomerulonephritis
HP:0012588	Steroid-resistant nephrotic syndrome
HP:0012622	Chronic kidney disease
HP:0031504	Foamy urine
HP:0100539	Periorbital edema

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001741_2	Pancreatitis	2.000000e-22
GCST004860_112	Alcoholic chronic pancreatitis	1.000000e-06
GCST004860_24	Alcoholic chronic pancreatitis	4.000000e-13
GCST004860_60	Alcoholic chronic pancreatitis	1.000000e-12

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009404	Nephrotic Syndrome	C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, affects cotreatment	6
sodium arsenite	affects expression, decreases expression	3
bisphenol A	decreases expression, increases expression, increases methylation	2
Acetaminophen	decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression	2
Tretinoin	increases expression	2
Cyclosporine	increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
trichostatin A	increases expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, decreases reaction	1
potassium chromate(VI)	decreases expression	1
dinophysistoxin 1	decreases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	increases expression, affects cotreatment	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Azathioprine	decreases expression	1
Caffeine	decreases phosphorylation	1
Clorgyline	increases expression	1
Clozapine	increases expression	1
Demecolcine	decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Formaldehyde	decreases expression	1
Phthalic Acids	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00308321	PHASE4	UNKNOWN	Long Term Tapering or Standard Steroids for Nephrotic Syndrome
NCT01021540	PHASE4	COMPLETED	Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes
NCT01028287	PHASE4	COMPLETED	Adrenocorticotropic Hormone (ACTH) Treatment of Nephrotic Range Proteinuria in Diabetic Nephropathy (NRDN)
NCT01162005	PHASE4	COMPLETED	Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children
NCT01895894	PHASE4	COMPLETED	Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome
NCT02238418	PHASE4	COMPLETED	Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria.
NCT02382575	PHASE4	UNKNOWN	Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome
NCT02427880	PHASE4	COMPLETED	Role of Acetazolamide and Hydrochlorothiazide Followed by Furosemide in Treating Nephrotic Edema
NCT03210688	PHASE4	COMPLETED	Active Vitamin D And Reduced Dose Prednisolone for Treatment in Minimal Change Nephropathy
NCT03347357	PHASE4	COMPLETED	Pharmacokinetics of Tacrolimus in Children
NCT05696977	PHASE4	UNKNOWN	Effect of Obesity on Cyclosporine Blood Trough Level in Nephrotic Syndrome Patients
NCT05966818	PHASE4	UNKNOWN	Effect of Dapagliflozin in Non-Diabetic Patients With Nephrotic Syndrome.
NCT06026787	PHASE4	COMPLETED	Clinical Value of Adding Dapagliflozin in Patients With Nephrotic Syndrome
NCT00354731	PHASE3	COMPLETED	Efficacy of Pentoxifylline on Primary Nephrotic Syndrome
NCT00615667	PHASE3	COMPLETED	Prospective, Multicenter Study of the Efficacy and Tolerance of Tacrolimus on Refractory Nephrotic Syndrome (RNS)
NCT00981838	PHASE3	COMPLETED	Rituximab in Multirelapsing Minimal Change Disease (MCD) or Focal Segmental Glomerulosclerosis (FSGS)
NCT01197040	PHASE3	COMPLETED	Evaluation of Low Dose Corticosteroids Efficiency, Associated With Myfortic ® in the Treatment of Nephrotic Syndrome
NCT01309477	PHASE3	COMPLETED	The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS)
NCT02132195	PHASE3	COMPLETED	Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome
NCT02257697	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mizoribine in the Treatment of Refractory Nephrotic Syndrome
NCT02438982	PHASE3	COMPLETED	Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome
NCT03141970	PHASE3	COMPLETED	Prednisolone Trial in Children Younger Than 4 Years
NCT03501459	PHASE3	UNKNOWN	Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome
NCT05079789	PHASE3	TERMINATED	Amiloride in Nephrotic Syndrome
NCT05716880	PHASE3	RECRUITING	Ketoanalogues for Muscle Mass Loss in Nephrotic Syndrome
NCT06635720	PHASE3	ACTIVE_NOT_RECRUITING	REduced-dose Steroid PrOtocol for Childhood Nephrotic SyndromE (RESPONSE)
NCT00001212	PHASE2	COMPLETED	Drug Therapy in Lupus Nephropathy
NCT00001959	PHASE2	COMPLETED	Pirfenidone to Treat Kidney Disease (Focal Segmental Glomerulosclerosis)
NCT00004466	PHASE2	TERMINATED	Pilot Study of Atorvastatin in Children With Chronic Hyperlipidemia Secondary to Nephrotic Syndrome
NCT00004990	PHASE2	COMPLETED	Once-A-Month Steroid Treatment for Patients With Focal Segmental Glomerulosclerosis
NCT00977977	PHASE2	RECRUITING	Rituximab Plus Cyclosporine in Idiopathic Membranous Nephropathy
NCT02394106	PHASE2	TERMINATED	Ofatumumab in Children With Drug Resistant Idiopathic Nephrotic Syndrome
NCT02394119	PHASE2	COMPLETED	Ofatumumab Versus Rituximab in Children With Steroid and Calcineurin Inhibitor Dependent Idiopathic Nephrotic Syndrome
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)
NCT02966717	PHASE2	UNKNOWN	Rituximab Combined With MSCs in the Treatment of PNS (3-4 Stage of CKD)
NCT03004001	PHASE2	TERMINATED	Effect of PCSK9-Antibody (Alirocumab) on Dyslipidemia Secondary to Nephrotic Syndrome
NCT03949855	PHASE2	RECRUITING	Belimumab With Rituximab for Primary Membranous Nephropathy
NCT05599815	PHASE2	WITHDRAWN	Part 1 - A Clinical Trial in Patients With Frequently Relapsing and Steroid-Dependent Nephrotic Syndrome
NCT05704400	PHASE2	UNKNOWN	Efficacy of Anti-CD20 Ab Associated With Anti-CD38 in the Childhood Multidrug Dependent and Resistant Nephrotic Syndrome
NCT06983028	PHASE2	RECRUITING	Atacicept in Multiple Glomerular Diseases