TBC1D31

Summary

TBC1D31 (TBC1 domain family member 31, HGNC:30888) is a protein-coding gene on chromosome 8q24.13, encoding TBC1 domain family member 31 (Q96DN5). Molecular adapter which is involved in cilium biogenesis.

Enables molecular adaptor activity. Involved in cilium assembly. Located in Golgi apparatus; centriolar satellite; and ciliary basal body.

Source: NCBI Gene 93594 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital anomaly of kidney and urinary tract (Limited, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 206 total — 1 likely-pathogenic
• MANE Select transcript: NM_145647

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30888
Approved symbol	TBC1D31
Name	TBC1 domain family member 31
Location	8q24.13
Locus type	gene with protein product
Status	Approved
Aliases	MGC21654, Gm85
Ensembl gene	ENSG00000156787
Ensembl biotype	protein_coding
Entrez	93594

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 15 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000287380, ENST00000327098, ENST00000518099, ENST00000518577, ENST00000518684, ENST00000518805, ENST00000518866, ENST00000519418, ENST00000520368, ENST00000521676, ENST00000521914, ENST00000521980, ENST00000522276, ENST00000522420, ENST00000524307, ENST00000865421, ENST00000865422, ENST00000865423, ENST00000865424, ENST00000948273

RefSeq mRNA: 12 — MANE Select: NM_145647 NM_001145088, NM_001330606, NM_001363148, NM_001363149, NM_001363150, NM_001363151, NM_001363152, NM_001363153, NM_001363154, NM_001363155, NM_001363156, NM_145647

CCDS: CCDS47916, CCDS6338, CCDS83320

Canonical transcript exons

ENST00000287380 — 22 exons

Exon	Start	End
ENSE00002108796	123151806	123152153
ENSE00002732245	123072707	123072846
ENSE00003459989	123140761	123140901
ENSE00003488166	123077111	123077257
ENSE00003494667	123100807	123101007
ENSE00003495373	123142262	123142456
ENSE00003503304	123130198	123130333
ENSE00003508854	123126056	123126189
ENSE00003514756	123105288	123105464
ENSE00003525781	123097282	123097441
ENSE00003542676	123120055	123120188
ENSE00003551006	123084162	123084340
ENSE00003583685	123109317	123109396
ENSE00003594513	123129066	123129218
ENSE00003604237	123126508	123126687
ENSE00003611368	123144717	123144855
ENSE00003622887	123093591	123093742
ENSE00003665187	123150036	123150128
ENSE00003680144	123082702	123082817
ENSE00003685499	123128281	123128513
ENSE00003693931	123134114	123134206
ENSE00003786120	123109474	123109620

Expression profiles

Bgee: expression breadth ubiquitous, 224 present calls, max score 96.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.1041 / max 117.0453, expressed in 1646 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
90470	7.4805	1632
90469	0.5906	332
90468	0.0330	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.41	gold quality
oocyte	CL:0000023	91.56	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.17	gold quality
ventricular zone	UBERON:0003053	86.74	gold quality
granulocyte	CL:0000094	84.10	gold quality
cortical plate	UBERON:0005343	82.92	gold quality
ganglionic eminence	UBERON:0004023	82.48	gold quality
monocyte	CL:0000576	81.65	gold quality
leukocyte	CL:0000738	81.43	gold quality
mononuclear cell	CL:0000842	81.36	gold quality
cerebellar hemisphere	UBERON:0002245	81.01	gold quality
buccal mucosa cell	CL:0002336	80.87	gold quality
cerebellar cortex	UBERON:0002129	80.71	gold quality
stromal cell of endometrium	CL:0002255	80.60	gold quality
right hemisphere of cerebellum	UBERON:0014890	80.60	gold quality
amniotic fluid	UBERON:0000173	80.59	gold quality
adrenal tissue	UBERON:0018303	79.00	gold quality
cerebellum	UBERON:0002037	78.70	gold quality
calcaneal tendon	UBERON:0003701	78.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.51	gold quality
colonic epithelium	UBERON:0000397	78.41	gold quality
right uterine tube	UBERON:0001302	78.34	gold quality
blood	UBERON:0000178	77.50	gold quality
nucleus accumbens	UBERON:0001882	77.35	gold quality
caudate nucleus	UBERON:0001873	77.25	gold quality
bone marrow cell	CL:0002092	76.35	gold quality
embryo	UBERON:0000922	76.30	gold quality
hindlimb stylopod muscle	UBERON:0004252	75.79	gold quality
right frontal lobe	UBERON:0002810	75.64	gold quality
lymph node	UBERON:0000029	75.58	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	20.99
E-CURD-112	yes	7.24
E-ANND-3	yes	5.57

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

19 targeting TBC1D31, 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-5692A	100.00	74.40	6850
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-548L	99.06	70.90	2560
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-361-5P	98.95	70.16	1340
HSA-MIR-340-3P	98.11	68.25	679
HSA-MIR-6827-3P	98.08	72.27	651
HSA-MIR-4446-3P	97.91	64.29	991

Literature-anchored findings (GeneRIF, showing 2)

• A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT). (PMID:37468454)
• Genomic Amplification of TBC1D31 Promotes Hepatocellular Carcinoma Through Reducing the Rab22A-Mediated Endolysosomal Trafficking and Degradation of EGFR. (PMID:39206796)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tbc1d31	ENSDARG00000074623
mus_musculus	Tbc1d31	ENSMUSG00000022364
rattus_norvegicus	Tbc1d31	ENSRNOG00000006103
drosophila_melanogaster	CG16896	FBGN0035073
caenorhabditis_elegans		WBGENE00017435

Paralogs (1): WDR3 (ENSG00000065183)

Protein

Protein identifiers

TBC1 domain family member 31 — Q96DN5 (reviewed: Q96DN5)

Alternative names: WD repeat-containing protein 67

All UniProt accessions (11): Q96DN5, E5RFG6, E5RG45, E5RHC6, E5RI27, E5RI94, E7ERK7, E7EWW7, F5GYF1, H0YCP2, H0YCY3

UniProt curated annotations — full annotation on UniProt →

Function. Molecular adapter which is involved in cilium biogenesis. Part of a functional complex including OFD1 a centriolar protein involved in cilium assembly. Could regulate the cAMP-dependent phosphorylation of OFD1, and its subsequent ubiquitination by PJA2 which ultimately leads to its proteasomal degradation.

Subunit / interactions. Interacts with PJA2; the interaction is direct and recruits PJA2 to centrosomes. Interacts with OFD1; regulates its activity in cilium assembly. Interacts with PRKACA.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriolar satellite. Cilium basal body.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96DN5-1	1	yes
Q96DN5-2	2
Q96DN5-3	3

RefSeq proteins (12): NP_001138560, NP_001317535, NP_001350077, NP_001350078, NP_001350079, NP_001350080, NP_001350081, NP_001350082, NP_001350083, NP_001350084, NP_001350085, NP_663622* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000195	Rab-GAP-TBC_dom	Domain
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR035969	Rab-GAP_TBC_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR051570	TBC1_cilium_biogenesis	Family

Pfam: PF00400, PF00566

UniProt features (23 total): repeat 7, sequence variant 3, region of interest 2, coiled-coil region 2, compositionally biased region 2, splice variant 2, sequence conflict 2, chain 1, mutagenesis site 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96DN5-F1	76.36	0.23

Functional residue map

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

Mutagenesis-validated functional residues (1):

Position	Phenotype
1053–1056	loss of interaction with pja2.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 157 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, BROWNE_HCMV_INFECTION_6HR_DN, GOCC_MICROTUBULE_ORGANIZING_CENTER, PUJANA_CHEK2_PCC_NETWORK, MORF_ZNF10, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, MORF_EPHA7, MORF_RAB3A, MORF_BMPR2, FISCHER_DREAM_TARGETS, GOBP_CELL_PROJECTION_ORGANIZATION, LIU_VMYB_TARGETS_UP, WANG_PROSTATE_CANCER_ANDROGEN_INDEPENDENT

GO Biological Process (2): cilium assembly (GO:0060271), cell projection organization (GO:0030030)

GO Molecular Function (2): molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (7): Golgi apparatus (GO:0005794), centrosome (GO:0005813), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
microtubule organizing center	2
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cellular component organization	1
molecular_function	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
centriole	1
centrosome	1
cilium	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1262 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TBC1D31	DHX35	Q9H5Z1	625
TBC1D31	CCDC138	Q96M89	602
TBC1D31	CCDC61	Q9Y6R9	553
TBC1D31	RAB5IF	Q9BUV8	508
TBC1D31	PIBF1	Q8WXW3	504
TBC1D31	NOL10	Q9BSC4	492
TBC1D31	DERL1	Q9BUN8	491
TBC1D31	CEP20	Q96NB1	488
TBC1D31	WDFY2	Q96P53	488
TBC1D31	ATAD2	Q6PL18	469
TBC1D31	ZHX3	Q9H4I2	456
TBC1D31	GGT7	Q9UJ14	456
TBC1D31	RPN2	P04844	450
TBC1D31	ZNF704	Q6ZNC4	447
TBC1D31	CSTPP1	Q9H6J7	445

IntAct

34 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
LTBR	ZNF724	psi-mi:“MI:0914”(association)	0.530
DYNC2I2	TCP1	psi-mi:“MI:0914”(association)	0.530
KIAA0753	OFD1	psi-mi:“MI:2364”(proximity)	0.480
Cep135		psi-mi:“MI:0914”(association)	0.350
Cep131	WBP2	psi-mi:“MI:0914”(association)	0.350
OFD1	CCDC14	psi-mi:“MI:0914”(association)	0.350
Lrrcc1	CCDC14	psi-mi:“MI:0914”(association)	0.350
CEP162	IPO5	psi-mi:“MI:0914”(association)	0.350
TANK	CNOT1	psi-mi:“MI:0914”(association)	0.350
RYBP	FAM186A	psi-mi:“MI:0914”(association)	0.350
CEP63	CIBAR1	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
RNF7	SOCS2	psi-mi:“MI:0914”(association)	0.350
PCM1	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
KIAA0753	DVL1	psi-mi:“MI:2364”(proximity)	0.270
CEP128	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
ODF2	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP162	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP135	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CNTRL	CCDC85C	psi-mi:“MI:2364”(proximity)	0.270
LCA5	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
SPICE1	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP120	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP63	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP89	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
SSX2IP	CNOT1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (78): TBC1D31 (Affinity Capture-MS), TBC1D31 (Proximity Label-MS), TBC1D31 (Affinity Capture-MS), TBC1D31 (Proximity Label-MS), TBC1D31 (Proximity Label-MS), TBC1D31 (Proximity Label-MS), TBC1D31 (Proximity Label-MS), TBC1D31 (Proximity Label-MS), TBC1D31 (Proximity Label-MS), TBC1D31 (Proximity Label-MS), TBC1D31 (Proximity Label-MS), TBC1D31 (Proximity Label-MS), TBC1D31 (Proximity Label-MS), TBC1D31 (Proximity Label-MS), TBC1D31 (Proximity Label-MS)

ESM2 similar proteins: A0JM23, A4IGD2, A5PKL6, A6NHR9, A6QQZ0, D3ZAT9, F1QWA8, O35099, O88741, O94952, P0CI65, P58005, Q29RL0, Q2TBQ7, Q3U213, Q3UMF9, Q4R6P7, Q4R6Y8, Q5E9N5, Q5F204, Q5HYI7, Q5I0G3, Q5IH14, Q5R5S1, Q5R9R1, Q5RL51, Q5TGI0, Q60649, Q6AZT7, Q6DDI6, Q6DDT5, Q6DEY8, Q6NXY1, Q6YXW6, Q7TNH6, Q7Z494, Q8NBP0, Q8NEC7, Q8TB36, Q94E75

Diamond homologs: H2LP95, Q29RL0, Q5RD21, Q6DDI6, Q6DEY8, Q6NXY1, Q96DN5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 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
Loss of Nlp from mitotic centrosomes	8	45.3×	2e-10
Loss of proteins required for interphase microtubule organization from the centrosome	8	45.3×	2e-10
AURKA Activation by TPX2	8	43.5×	2e-10
Anchoring of the basal body to the plasma membrane	10	40.4×	3e-12
Recruitment of mitotic centrosome proteins and complexes	8	38.8×	4e-10
Regulation of PLK1 Activity at G2/M Transition	8	36.2×	6e-10
Recruitment of NuMA to mitotic centrosomes	8	33.3×	1e-09
Cilium Assembly	5	19.4×	8e-05

GO biological processes:

GO term	Partners	Fold	FDR
cilium assembly	11	20.2×	1e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	153
Likely benign	18
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2671821	NM_145647.4(TBC1D31):c.187C>G (p.Gln63Glu)	Likely pathogenic

SpliceAI

4834 predictions. Top by Δscore:

Variant	Effect	Δscore
8:123077106:GACA:G	acceptor_loss	1.0000
8:123077107:ACAG:A	acceptor_loss	1.0000
8:123077108:CAG:C	acceptor_loss	1.0000
8:123077109:A:AG	acceptor_gain	1.0000
8:123077109:A:C	acceptor_loss	1.0000
8:123077110:G:GA	acceptor_gain	1.0000
8:123077110:G:GT	acceptor_loss	1.0000
8:123077110:GA:G	acceptor_gain	1.0000
8:123077110:GAATT:G	acceptor_gain	1.0000
8:123077254:ACAGG:A	donor_loss	1.0000
8:123077255:CAGGT:C	donor_loss	1.0000
8:123077256:AGGTA:A	donor_loss	1.0000
8:123077258:GT:G	donor_loss	1.0000
8:123077259:T:G	donor_loss	1.0000
8:123084160:A:AG	acceptor_gain	1.0000
8:123084161:G:GG	acceptor_gain	1.0000
8:123097271:T:A	acceptor_gain	1.0000
8:123097276:A:AG	acceptor_gain	1.0000
8:123097277:T:G	acceptor_gain	1.0000
8:123097279:T:G	acceptor_gain	1.0000
8:123097280:A:AG	acceptor_gain	1.0000
8:123097280:A:C	acceptor_loss	1.0000
8:123097281:G:GA	acceptor_gain	1.0000
8:123097281:GA:G	acceptor_gain	1.0000
8:123097281:GAGA:G	acceptor_gain	1.0000
8:123097281:GAGAT:G	acceptor_gain	1.0000
8:123097437:ATCAG:A	donor_loss	1.0000
8:123097439:CAGG:C	donor_loss	1.0000
8:123097440:AGGTT:A	donor_loss	1.0000
8:123097441:GG:G	donor_loss	1.0000

AlphaMissense

7098 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:123084275:T:A	W152R	1.000
8:123084275:T:C	W152R	1.000
8:123093624:A:C	S185R	0.999
8:123093626:C:A	S185R	0.999
8:123093626:C:G	S185R	0.999
8:123093654:T:A	W195R	0.999
8:123093654:T:C	W195R	0.999
8:123109484:T:A	W434R	0.999
8:123109484:T:C	W434R	0.999
8:123084243:C:A	A141D	0.998
8:123084249:C:A	T143K	0.998
8:123084277:G:C	W152C	0.998
8:123084277:G:T	W152C	0.998
8:123093656:G:C	W195C	0.998
8:123093656:G:T	W195C	0.998
8:123126565:T:A	W588R	0.998
8:123126565:T:C	W588R	0.998
8:123082782:C:A	A102E	0.997
8:123084249:C:G	T143R	0.997
8:123084276:G:C	W152S	0.997
8:123084309:T:C	L163P	0.996
8:123097331:T:A	W241R	0.996
8:123097331:T:C	W241R	0.996
8:123120168:A:T	E517V	0.996
8:123084267:C:A	A149E	0.995
8:123093622:T:C	L184P	0.995
8:123093655:G:C	W195S	0.995
8:123109380:T:G	Y425D	0.995
8:123109396:G:C	R430T	0.995
8:123126580:G:C	D593H	0.995

dbSNP variants (sampled 300 via entrez): RS1000044187 (8:123102826 T>C), RS1000060093 (8:123126236 T>A,C), RS1000093734 (8:123109708 T>C), RS1000116599 (8:123103933 C>G), RS1000154921 (8:123156848 G>A), RS1000155803 (8:123110023 G>A), RS1000189035 (8:123148872 A>G), RS1000189438 (8:123155184 T>TTGA), RS1000222498 (8:123084462 CAAGCA>C), RS1000241813 (8:123161039 G>A), RS1000294610 (8:123084241 T>C,G), RS1000321967 (8:123109865 G>A), RS1000322948 (8:123080358 A>G), RS1000332792 (8:123135772 A>C,G), RS1000347381 (8:123155449 C>A,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital anomaly of kidney and urinary tract	Limited	Autosomal recessive

Mondo (1): congenital anomaly of kidney and urinary tract (MONDO:0019719)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003098_17	Diabetic kidney disease	6.000000e-08

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566906	Cakut (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression	4
Benzo(a)pyrene	decreases expression, decreases methylation, increases expression	3
bisphenol A	decreases expression, increases expression	2
Cisplatin	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
bisphenol F	increases methylation	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
methylparaben	decreases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Acetaminophen	increases expression	1
Ethanol	decreases expression, increases abundance, affects cotreatment	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Doxorubicin	decreases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Methyl Methanesulfonate	increases expression	1
Nickel	increases expression	1
Perfume	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04115345	PHASE1	COMPLETED	A Study of a Renal Autologous Cell Therapy (REACT) in Patients With Chronic Kidney Disease (CKD) From Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
NCT05694169	PHASE1	TERMINATED	A Study of Participants With Chronic Kidney Disease Previously Treated With REACT
NCT04537364	Not specified	COMPLETED	Prediction of Renal Parenchymal Damage of CAKUT
NCT06921733	Not specified	RECRUITING	Ultrasound Localization Microscopy in Patient With Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)