NOC3L

Summary

NOC3L (NOC3 like DNA replication regulator, HGNC:24034) is a protein-coding gene on chromosome 10q23.33, encoding Nucleolar complex protein 3 homolog (Q8WTT2). May be required for adipogenesis. It is a common-essential gene (DepMap: required in 95.7% of cancer cell lines).

Enables RNA binding activity. Predicted to be involved in DNA replication initiation. Predicted to act upstream of or within fat cell differentiation. Located in mitochondrion; nucleolus; and nucleoplasm.

Source: NCBI Gene 64318 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 205 total — 3 pathogenic
• Cancer dependency (DepMap): dependent in 95.7% of screened cell lines (common-essential)
• MANE Select transcript: NM_022451

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24034
Approved symbol	NOC3L
Name	NOC3 like DNA replication regulator
Location	10q23.33
Locus type	gene with protein product
Status	Approved
Aliases	AD24, FLJ12820, FAD24
Ensembl gene	ENSG00000173145
Ensembl biotype	protein_coding
OMIM	610769
Entrez	64318

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000371361, ENST00000461562, ENST00000463649, ENST00000852417, ENST00000852418, ENST00000920650, ENST00000920651, ENST00000966134

RefSeq mRNA: 1 — MANE Select: NM_022451 NM_022451

CCDS: CCDS7433

Canonical transcript exons

ENST00000371361 — 21 exons

Exon	Start	End
ENSE00001097045	94358083	94358215
ENSE00001097061	94357174	94357331
ENSE00001198878	94338608	94338736
ENSE00001198885	94339739	94339920
ENSE00001198896	94340433	94340496
ENSE00001198901	94341673	94341745
ENSE00001198907	94344415	94344515
ENSE00001198914	94344853	94344933
ENSE00001198963	94337777	94337874
ENSE00001277379	94334634	94334718
ENSE00001277399	94340276	94340347
ENSE00001277441	94346425	94346556
ENSE00001867872	94333226	94334305
ENSE00003484724	94349250	94349378
ENSE00003489935	94361665	94361872
ENSE00003605621	94362830	94362939
ENSE00003624083	94352310	94352403
ENSE00003629535	94354963	94355093
ENSE00003649882	94356535	94356591
ENSE00003656467	94352896	94353057
ENSE00003682223	94350113	94350288

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 92.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.7800 / max 398.8763, expressed in 1748 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110730	14.1162	1741
110731	0.4424	185
110728	0.2215	66

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	92.74	gold quality
calcaneal tendon	UBERON:0003701	91.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.91	gold quality
cartilage tissue	UBERON:0002418	88.90	gold quality
adrenal tissue	UBERON:0018303	88.63	gold quality
biceps brachii	UBERON:0001507	87.91	gold quality
germinal epithelium of ovary	UBERON:0001304	87.57	gold quality
tendon	UBERON:0000043	87.52	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	87.50	gold quality
tibia	UBERON:0000979	87.42	gold quality
parietal pleura	UBERON:0002400	87.41	gold quality
upper leg skin	UBERON:0004262	87.33	gold quality
skin of hip	UBERON:0001554	87.18	gold quality
pleura	UBERON:0000977	86.38	gold quality
deltoid	UBERON:0001476	85.76	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	85.61	gold quality
choroid plexus epithelium	UBERON:0003911	85.13	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.10	gold quality
visceral pleura	UBERON:0002401	84.99	gold quality
ventricular zone	UBERON:0003053	84.74	gold quality
vastus lateralis	UBERON:0001379	84.46	gold quality
endometrium	UBERON:0001295	84.45	gold quality
gluteal muscle	UBERON:0002000	84.42	gold quality
skeletal muscle tissue	UBERON:0001134	84.35	gold quality
tonsil	UBERON:0002372	84.34	gold quality
quadriceps femoris	UBERON:0001377	84.22	silver quality
lymph node	UBERON:0000029	83.86	gold quality
tongue squamous epithelium	UBERON:0006919	83.77	silver quality
pericardium	UBERON:0002407	83.65	gold quality
epithelium of nasopharynx	UBERON:0001951	83.62	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.30

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HES1, KAT7

miRNA regulators (miRDB)

73 targeting NOC3L, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 95.7% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 6)

• Fad24, a mammalian homolog of Noc3p, is a positive regulator in adipocyte differentiation. (PMID:15564382)
• A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. (PMID:22360420)
• Results indicate the importance of four gastric cancer susceptibility polymorphisms of IL-10, NOC3L, PSCA and MTRR in the Chinese Han population. (PMID:22796266)
• We found PLCE1, C11orf92-C11orf93, and NOC3L associated with colorectal cancer susceptibility (PMID:24146276)
• Knockdown of human NOC3 in HeLa cells abrogates the chromatin association of other pre-RC proteins including hCDC6 and hMCM, leading to DNA replication defects and eventual apoptosis in an abortive S-phase. Human NOC3 physically interacts with multiple human pre-replicative complex (pre-RC) proteins and associates with known replication origins throughout the cell cycle. (PMID:30741601)
• Genome-Wide Association Study on Longitudinal Change in Fasting Plasma Glucose in Korean Population. (PMID:36653889)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	noc3l	ENSDARG00000002487
mus_musculus	Noc3l	ENSMUSG00000024999
rattus_norvegicus	Noc3l	ENSRNOG00000013965
drosophila_melanogaster	Noc3	FBGN0037489
caenorhabditis_elegans		WBGENE00016508

Protein

Protein identifiers

Nucleolar complex protein 3 homolog — Q8WTT2 (reviewed: Q8WTT2)

Alternative names: Factor for adipocyte differentiation 24, NOC3-like protein, Nucleolar complex-associated protein 3-like protein

All UniProt accessions (1): Q8WTT2

UniProt curated annotations — full annotation on UniProt →

Function. May be required for adipogenesis.

Subcellular location. Nucleus. Nucleolus. Nucleus speckle.

Tissue specificity. Expressed in colon, heart, kidney, liver, lung, placenta, skeletal muscle, small intestine, spleen and thymus.

Similarity. Belongs to the CBF/MAK21 family.

RefSeq proteins (1): NP_071896* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005612	CCAAT-binding_factor	Domain
IPR011501	Noc3_N	Domain
IPR016024	ARM-type_fold	Homologous_superfamily
IPR016903	Nucleolar_cplx-assoc_3	Family

Pfam: PF03914, PF07540

UniProt features (17 total): sequence variant 6, compositionally biased region 5, region of interest 2, chain 1, cross-link 1, coiled-coil region 1, modified residue 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
8FKV	ELECTRON MICROSCOPY	2.47
8FKW	ELECTRON MICROSCOPY	2.5
8FKX	ELECTRON MICROSCOPY	2.59
8FKY	ELECTRON MICROSCOPY	2.67

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WTT2-F1	74.68	0.21

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 (2): 333, 787

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 153 (showing top): GNF2_FBL, GOBP_FAT_CELL_DIFFERENTIATION, DODD_NASOPHARYNGEAL_CARCINOMA_UP, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_UP, FISCHER_DREAM_TARGETS, MARTINEZ_RESPONSE_TO_TRABECTEDIN_DN, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, ACEVEDO_LIVER_CANCER_UP, IVANOVA_HEMATOPOIESIS_INTERMEDIATE_PROGENITOR, KOBAYASHI_EGFR_SIGNALING_24HR_DN, GOBP_DNA_REPLICATION, GOMF_CHROMATIN_BINDING, GOCC_NUCLEAR_SPECK, NUYTTEN_EZH2_TARGETS_DN, GOCC_NUCLEAR_BODY

GO Biological Process (2): DNA replication initiation (GO:0006270), fat cell differentiation (GO:0045444)

GO Molecular Function (2): chromatin binding (GO:0003682), RNA binding (GO:0003723)

GO Cellular Component (5): nucleoplasm (GO:0005654), nucleolus (GO:0005730), mitochondrion (GO:0005739), nuclear speck (GO:0016607), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear lumen	2
intracellular membrane-bounded organelle	2
DNA metabolic process	1
DNA-templated DNA replication	1
cell differentiation	1
binding	1
nucleic acid binding	1
cellular anatomical structure	1
intracellular membraneless organelle	1
cytoplasm	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

2554 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NOC3L	PLCE1	Q9P212	603
NOC3L	MRTO4	Q9UKD2	581
NOC3L	CEBPA	P49715	578
NOC3L	INO80D	Q53TQ3	486
NOC3L	LPIN3	Q9BQK8	483
NOC3L	MAP7D3	Q8IWC1	476
NOC3L	SLC35G1	Q2M3R5	473
NOC3L	MPRIP	Q6WCQ1	464
NOC3L	BRIX1	Q8TDN6	460
NOC3L	TEX10	Q9NXF1	457
NOC3L	PPARG	P37231	453
NOC3L	ADAM10	O14672	441
NOC3L	FGD3	Q5JSP0	441
NOC3L	WDR74	Q6RFH5	441
NOC3L	MAP3K3	Q99759	438

IntAct

196 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RPL14	RRP8	psi-mi:“MI:0914”(association)	0.640
NPM1	NVL	psi-mi:“MI:0914”(association)	0.610
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
RPL28	MAGEB2	psi-mi:“MI:0914”(association)	0.560
PLEKHO1	UBA6	psi-mi:“MI:0914”(association)	0.530
MAGEB10	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RBM34	NVL	psi-mi:“MI:0914”(association)	0.530
PES1	AP3B1	psi-mi:“MI:0914”(association)	0.530
H1-4	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
WDR55	PES1	psi-mi:“MI:0914”(association)	0.530
RPL37A	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
ZNF2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
RPL18	NOP56	psi-mi:“MI:0914”(association)	0.530
MACROH2A2	PPM1G	psi-mi:“MI:0914”(association)	0.530
MAK16	NVL	psi-mi:“MI:0914”(association)	0.530
RPL18A	RRP8	psi-mi:“MI:0914”(association)	0.530
PDGFB	DKC1	psi-mi:“MI:0914”(association)	0.530
	XPO1	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
H1-4	RRP8	psi-mi:“MI:0914”(association)	0.530

BioGRID (286): NOC3L (Affinity Capture-MS), NOC3L (Affinity Capture-MS), NOC3L (Affinity Capture-MS), NOC3L (Affinity Capture-MS), DDX24 (Co-fractionation), NOC3L (Co-fractionation), NOC3L (Co-fractionation), NOC3L (Co-fractionation), NOC3L (Co-fractionation), NOC3L (Co-fractionation), NOC3L (Co-fractionation), NOC3L (Co-fractionation), NOC3L (Co-fractionation), PES1 (Co-fractionation), RPL4 (Co-fractionation)

ESM2 similar proteins: A5D7S3, A5PKL6, A6NHR9, A6NNW6, A6QPQ5, A6QPR9, A8K855, O02789, O75717, P27641, P59328, P60670, P82933, Q0IHV1, Q2T9V5, Q32KZ1, Q496Z9, Q4R6C7, Q4R6Y8, Q58DQ5, Q5F204, Q5M882, Q5R5T0, Q5R952, Q5RL51, Q5TZF3, Q69ZX6, Q6AZN0, Q6DDT5, Q6P5D8, Q7Z2T5, Q8CE96, Q8NEC7, Q8R3N6, Q8TAT6, Q8VDY4, Q8VI84, Q8WTT2, Q91Y26, Q96FV9

Diamond homologs: P91136, Q5R952, Q5XGZ8, Q61LN7, Q6DRN3, Q8VI84, Q8WTT2, Q91Y26, Q9VI82, O94288, Q9BVI4

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
NOC3L	up-regulates	Adipogenesis
HES1	“down-regulates quantity”	NOC3L	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 183 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
Peptide chain elongation	22	23.3×	2e-22
Viral mRNA Translation	22	23.3×	2e-22
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	22	23.0×	2e-22
Selenocysteine synthesis	22	22.0×	3e-22
Eukaryotic Translation Termination	22	22.0×	3e-22
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	22	21.6×	4e-22
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	22	21.6×	4e-22
Formation of a pool of free 40S subunits	23	21.5×	2e-22

GO biological processes:

GO term	Partners	Fold	FDR
ribosomal large subunit biogenesis	11	29.8×	1e-11
cytoplasmic translation	23	26.0×	1e-23
rRNA processing	19	16.4×	1e-15
translation	24	15.0×	5e-19
ribosomal small subunit biogenesis	10	13.9×	4e-07
negative regulation of viral genome replication	6	13.7×	6e-04
regulation of alternative mRNA splicing, via spliceosome	6	8.9×	4e-03
negative regulation of translation	7	8.4×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	136
Likely benign	19
Benign	14

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
18422	NM_016341.4(PLCE1):c.6448C>T (p.Arg2150Ter)	Pathogenic
3004254	NM_016341.4(PLCE1):c.6449del (p.Arg2150fs)	Pathogenic
631642	NM_016341.4(PLCE1):c.6377_6378del (p.Lys2126fs)	Pathogenic

SpliceAI

2920 predictions. Top by Δscore:

Variant	Effect	Δscore
10:94334628:CCATA:C	donor_loss	1.0000
10:94334629:CATAC:C	donor_loss	1.0000
10:94334630:ATACC:A	donor_loss	1.0000
10:94334631:TA:T	donor_loss	1.0000
10:94334632:A:AT	donor_loss	1.0000
10:94337787:A:C	donor_gain	1.0000
10:94337870:TGCCT:T	acceptor_gain	1.0000
10:94337871:GCCT:G	acceptor_gain	1.0000
10:94337872:CCTC:C	acceptor_gain	1.0000
10:94337873:CT:C	acceptor_gain	1.0000
10:94337875:C:CC	acceptor_gain	1.0000
10:94338602:TCTTA:T	donor_loss	1.0000
10:94338603:CTTA:C	donor_loss	1.0000
10:94338604:TTAC:T	donor_loss	1.0000
10:94338605:TA:T	donor_loss	1.0000
10:94338606:A:AC	donor_gain	1.0000
10:94338606:AC:A	donor_gain	1.0000
10:94338606:ACC:A	donor_gain	1.0000
10:94338606:ACCC:A	donor_loss	1.0000
10:94338607:C:CA	donor_gain	1.0000
10:94338607:CC:C	donor_gain	1.0000
10:94338607:CCC:C	donor_gain	1.0000
10:94338607:CCCG:C	donor_gain	1.0000
10:94338732:AAAGT:A	acceptor_gain	1.0000
10:94338733:AAGT:A	acceptor_gain	1.0000
10:94338734:AGT:A	acceptor_gain	1.0000
10:94338735:GT:G	acceptor_gain	1.0000
10:94338737:C:CC	acceptor_gain	1.0000
10:94338740:C:CT	acceptor_gain	1.0000
10:94338741:A:T	acceptor_gain	1.0000

AlphaMissense

5284 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:94341707:A:G	L537P	0.999
10:94344421:A:G	L522P	0.998
10:94344425:C:G	G521R	0.998
10:94344465:C:A	K507N	0.998
10:94344465:C:G	K507N	0.998
10:94344469:A:G	L506S	0.998
10:94344477:G:C	F503L	0.998
10:94344477:G:T	F503L	0.998
10:94344479:A:G	F503L	0.998
10:94344502:A:G	L495P	0.998
10:94344899:A:G	L475P	0.998
10:94341718:A:C	F533L	0.997
10:94341718:A:T	F533L	0.997
10:94341720:A:G	F533L	0.997
10:94341734:A:G	L528P	0.997
10:94341742:A:C	F525L	0.997
10:94341742:A:T	F525L	0.997
10:94341744:A:G	F525L	0.997
10:94344430:A:G	L519P	0.997
10:94350170:G:C	N357K	0.997
10:94350170:G:T	N357K	0.997
10:94340338:A:G	L573P	0.996
10:94340444:A:G	L566P	0.996
10:94340456:G:T	A562D	0.996
10:94341731:A:T	I529K	0.996
10:94344421:A:T	L522H	0.996
10:94344489:A:C	F499L	0.996
10:94344489:A:T	F499L	0.996
10:94344491:A:G	F499L	0.996
10:94344891:C:G	A478P	0.996

dbSNP variants (sampled 300 via entrez): RS1000120410 (10:94342130 G>A), RS1000142307 (10:94360134 G>A,C), RS1000145930 (10:94362275 CT>C), RS1000159715 (10:94316685 A>C,G,T), RS1000193817 (10:94319378 G>T), RS1000210743 (10:94326953 G>A), RS1000267481 (10:94315787 A>C), RS1000334440 (10:94323544 G>C), RS1000347541 (10:94326174 G>C), RS1000365553 (10:94323312 A>G), RS1000390665 (10:94355970 T>C,G), RS1000474000 (10:94360538 G>A), RS1000492694 (10:94342436 A>G), RS1000549420 (10:94319764 A>G), RS1000628948 (10:94346754 A>C)

Disease associations

OMIM: gene MIM:610769 | disease phenotypes: MIM:610725

GenCC curated gene-disease

Mondo (2): nephrotic syndrome, type 3 (MONDO:0012546), focal segmental glomerulosclerosis (MONDO:0100313)

Orphanet (1): Hereditary steroid-resistant nephrotic syndrome (Orphanet:656)

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST000777_1	Esophageal cancer and gastric cancer	2.000000e-09
GCST000777_3	Esophageal cancer and gastric cancer	4.000000e-09
GCST005182_9	Common carotid intima-media thickness in HIV negative individuals	2.000000e-06
GCST007684_2	Plasma clozapine-norclozapine ratio in treatment-resistant schizophrenia	5.000000e-14
GCST008646_3	Gastric cancer	3.000000e-12
GCST009174_2	Response to (pegylated) interferon in chronic hepatitis B	1.000000e-06
GCST90011892_8	Retinitis pigmentosa	9.000000e-06
GCST90011899_64	Aspartate aminotransferase levels	2.000000e-08
GCST90020026_678	Hip index	8.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0600040	plasma clozapine-to-N-desmethylclozapine ratio measurement
EFO:0007859	response to interferon
EFO:0004736	aspartate aminotransferase measurement
EFO:0008039	BMI-adjusted hip circumference

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: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs12572897	NOC3L		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
bisphenol A	affects cotreatment, increases methylation, increases expression	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance	2
Arsenic	affects cotreatment, increases abundance, increases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Tretinoin	decreases expression	2
Valproic Acid	decreases methylation, increases expression	2
Cyclosporine	increases expression	2
afuresertib	decreases expression	1
bisphenol F	affects cotreatment, decreases expression	1
TAK-243	decreases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
deoxynivalenol	increases expression	1
kojic acid	decreases expression	1
afimoxifene	affects response to substance	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nickel sulfate	decreases expression	1
coumarin	decreases phosphorylation	1
1-nitropyrene	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
cylindrospermopsin	increases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, decreases expression	1

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