RCC1L

Summary

RCC1L (RCC1 like, HGNC:14948) is a protein-coding gene on chromosome 7q11.23, encoding RCC1-like G exchanging factor-like protein (Q96I51). Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. It is a selective cancer dependency (DepMap: 58.6% of cell lines).

This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 81554 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 12 total
• Cancer dependency (DepMap): dependent in 58.6% of screened cell lines
• MANE Select transcript: NM_030798

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14948
Approved symbol	RCC1L
Name	RCC1 like
Location	7q11.23
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000274523
Ensembl biotype	protein_coding
OMIM	620739
Entrez	81554

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 14 protein_coding, 2 retained_intron

ENST00000610322, ENST00000614461, ENST00000615250, ENST00000616051, ENST00000618035, ENST00000618102, ENST00000894006, ENST00000894007, ENST00000894008, ENST00000894009, ENST00000894010, ENST00000894011, ENST00000894012, ENST00000936501, ENST00000954050, ENST00000954051

RefSeq mRNA: 4 — MANE Select: NM_030798 NM_001281441, NM_001363447, NM_030798, NM_148842

CCDS: CCDS5577, CCDS64683, CCDS64684

Canonical transcript exons

ENST00000610322 — 11 exons

Exon	Start	End
ENSE00003719132	75066664	75066792
ENSE00003719955	75052711	75052796
ENSE00003724475	75058588	75058769
ENSE00003727635	75070640	75070769
ENSE00003734633	75042183	75043109
ENSE00003739345	75055901	75056074
ENSE00003742206	75063292	75063343
ENSE00003746907	75073414	75073802
ENSE00003747925	75064582	75064648
ENSE00003752385	75061207	75061291
ENSE00003754537	75057529	75057616

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 94.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.1387 / max 233.7594, expressed in 1811 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84368	18.1899	1810
84367	0.9487	651

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	94.64	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.42	gold quality
muscle of leg	UBERON:0001383	94.19	gold quality
apex of heart	UBERON:0002098	93.42	gold quality
right adrenal gland cortex	UBERON:0035827	93.25	gold quality
right adrenal gland	UBERON:0001233	93.24	gold quality
left adrenal gland	UBERON:0001234	92.75	gold quality
right lobe of liver	UBERON:0001114	92.31	gold quality
left adrenal gland cortex	UBERON:0035825	92.22	gold quality
heart left ventricle	UBERON:0002084	92.01	gold quality
mucosa of transverse colon	UBERON:0004991	92.01	gold quality
cardiac ventricle	UBERON:0002082	91.57	gold quality
adrenal gland	UBERON:0002369	91.55	gold quality
right atrium auricular region	UBERON:0006631	91.49	gold quality
muscle organ	UBERON:0001630	91.48	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.43	gold quality
lower esophagus	UBERON:0013473	91.42	gold quality
adrenal cortex	UBERON:0001235	91.40	gold quality
popliteal artery	UBERON:0002250	90.95	gold quality
tibial artery	UBERON:0007610	90.93	gold quality
stromal cell of endometrium	CL:0002255	90.89	gold quality
muscle layer of sigmoid colon	UBERON:0035805	90.87	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	90.85	gold quality
aorta	UBERON:0000947	90.70	gold quality
right coronary artery	UBERON:0001625	90.68	gold quality
thoracic aorta	UBERON:0001515	90.54	gold quality
ascending aorta	UBERON:0001496	90.50	gold quality
adrenal tissue	UBERON:0018303	90.31	gold quality
descending thoracic aorta	UBERON:0002345	90.22	gold quality
heart	UBERON:0000948	90.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.46

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting RCC1L, 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-4283	100.00	66.42	2097
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-1207-3P	98.99	66.22	1532
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-1910-3P	98.44	67.51	1695
HSA-MIR-660-3P	98.14	66.04	1434
HSA-MIR-6511A-5P	98.13	67.47	1770
HSA-MIR-27B-5P	97.34	66.55	549
HSA-MIR-4485-5P	95.91	59.69	198

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 58.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Using X-ray crystallography, established the structure of human Williams-Beuren Syndrome Chromosomal Region 16 (WBSCR16), and showed that WBSCR16 has seven-bladed b-propeller fold (the RCC1 fold) with unique surface features. (PMID:28608466)
• RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases. (PMID:32735630)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	rcc1l	ENSDARG00000059583
mus_musculus	Rcc1l	ENSMUSG00000061979
rattus_norvegicus	Rcc1l	ENSRNOG00000001483
drosophila_melanogaster	CG3862	FBGN0031286
drosophila_melanogaster	CG33288	FBGN0053288
caenorhabditis_elegans	W09G3.7	WBGENE00012370

Paralogs (9): ALS2 (ENSG00000003393), HERC1 (ENSG00000103657), SERGEF (ENSG00000129158), RCBTB1 (ENSG00000136144), RCBTB2 (ENSG00000136161), RPGR (ENSG00000156313), RCCD1 (ENSG00000166965), RCC2 (ENSG00000179051), RCC1 (ENSG00000180198)

Protein

Protein identifiers

RCC1-like G exchanging factor-like protein — Q96I51 (reviewed: Q96I51)

Alternative names: Williams-Beuren syndrome chromosomal region 16 protein

All UniProt accessions (2): Q96I51, A0A087WT38

UniProt curated annotations — full annotation on UniProt →

Function. Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1-dependent mitochondrial fusion. Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system. Plays an essential role in mitochondrial ribosome biogenesis via its association with GTPases that play a role in the assembly of the large ribosome subunit. Plays an essential role in mitochondrial ribosome biogenesis via its association with GTPases that play a role in the assembly of the small ribosome subunit.

Subunit / interactions. Forms a regulatory protein-RNA complex, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA. Interacts with 16S mt-rRNA; this interaction is direct. Interacts with OPA1; this interaction is direct. Interacts with NME6; this interaction mediates activation of nucleoside diphosphate kinase activity. Associates with the mitochondrial ribosome large subunit (mt-LSU). Associates with the mitochondrial ribosome small subunit (mt-SSU).

Subcellular location. Mitochondrion membrane Mitochondrion inner membrane Mitochondrion inner membrane Mitochondrion inner membrane.

Tissue specificity. Ubiquitous.

Disease relevance. WBSCR16 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Domain organisation. The RCC1-like repeats assemble into a circular seven-bladed beta propeller structure. Each blade is composed of four antiparallel beta-strands with loops between each strand.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96I51-1	1, V1	yes
Q96I51-2	2, V3
Q96I51-3	3, V2

RefSeq proteins (4): NP_001268370, NP_001350376, NP_110425, NP_683682 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000408	Reg_chr_condens	Repeat
IPR009091	RCC1/BLIP-II	Homologous_superfamily
IPR053035	Mitochondrial_GEF_domain	Family
IPR058923	RCC1-like_dom	Domain

Pfam: PF00415, PF25390

UniProt features (54 total): strand 33, repeat 7, turn 4, splice variant 3, helix 3, transit peptide 1, chain 1, sequence variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5XGS	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96I51-F1	89.79	0.80

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
1–37	loss of mitochondrial localization.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6793080	rRNA modification in the mitochondrion
R-HSA-9937008	Mitochondrial mRNA modification

MSigDB gene sets: 147 (showing top): GOBP_RIBOSOME_BIOGENESIS, GGGNRMNNYCAT_UNKNOWN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_RIBOSOME_ASSEMBLY, YY1_Q6, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOBP_RIBOSOMAL_LARGE_SUBUNIT_ASSEMBLY, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_ORGANELLE_ASSEMBLY, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, GOBP_MITOCHONDRIAL_FUSION

GO Biological Process (3): mitochondrial fusion (GO:0008053), mitochondrial small ribosomal subunit assembly (GO:0180026), mitochondrial large ribosomal subunit assembly (GO:1902775)

GO Molecular Function (6): RNA binding (GO:0003723), guanyl-nucleotide exchange factor activity (GO:0005085), GTP binding (GO:0005525), rRNA binding (GO:0019843), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), mitochondrial membrane (GO:0031966), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
rRNA processing in the mitochondrion	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrial ribosome assembly	2
mitochondrion	2
mitochondrion organization	1
organelle fusion	1
ribosomal small subunit assembly	1
ribosomal large subunit assembly	1
nucleic acid binding	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
RNA binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
intracellular organelle lumen	1
mitochondrial envelope	1
organelle membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1528 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RCC1L	NEK6	Q9HC98	830
RCC1L	NGRN	Q9NPE2	779
RCC1L	RPUSD4	Q96CM3	749
RCC1L	RPGRIP1	Q96KN7	744
RCC1L	RABIF	P47224	736
RCC1L	RPUSD3	Q6P087	735
RCC1L	PDE6D	O43924	722
RCC1L	NEK7	Q8TDX7	715
RCC1L	FASTKD2	Q9NYY8	698
RCC1L	RAN	P17080	683
RCC1L	NEK1	Q96PY6	659
RCC1L	RAB40AL	P0C0E4	647
RCC1L	IQCB1	Q15051	641
RCC1L	UBE3A	P78355	632
RCC1L	NEK3	P51956	629

IntAct

87 interactions, top by confidence:

A	B	Type	Score
RCC1L	NME6	psi-mi:“MI:0914”(association)	0.720
RCC1L	NME6	psi-mi:“MI:0915”(physical association)	0.720
NME6	RCC1L	psi-mi:“MI:0915”(physical association)	0.720
GOLPH3	RCC1L	psi-mi:“MI:0914”(association)	0.640
ETFRF1	NDUFAB1	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
FAM120A	SYNCRIP	psi-mi:“MI:0914”(association)	0.640
YWHAG	RCC1L	psi-mi:“MI:0915”(physical association)	0.560
SETDB1	RCC1L	psi-mi:“MI:0915”(physical association)	0.560
KAT5	RCC1L	psi-mi:“MI:0915”(physical association)	0.560
LMO3	RCC1L	psi-mi:“MI:0915”(physical association)	0.560
IGF2BP3	PTCD1	psi-mi:“MI:0914”(association)	0.530
DHH	HSPA5	psi-mi:“MI:0914”(association)	0.530
MRPL13	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
ILF2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530

BioGRID (134): WBSCR16 (Affinity Capture-MS), MRPL45 (Co-fractionation), WBSCR16 (Affinity Capture-MS), WBSCR16 (Affinity Capture-MS), WBSCR16 (Affinity Capture-MS), TRUB2 (Affinity Capture-MS), C6orf203 (Affinity Capture-MS), NME6 (Affinity Capture-MS), WBSCR16 (Affinity Capture-MS), NRD1 (Affinity Capture-MS), DHRS4 (Affinity Capture-MS), PMPCB (Affinity Capture-MS), PMPCA (Affinity Capture-MS), STARD7 (Affinity Capture-MS), NUDT19 (Affinity Capture-MS)

ESM2 similar proteins: A1L3K1, A2AFS3, A5PKD9, A6QQ60, A8MYP8, B5DFI8, B5DFK7, G3MWR8, O35217, O73884, P07992, P0C7P0, P28686, P42642, P48801, Q01134, Q08DW9, Q2HJ19, Q3SZB3, Q4R766, Q5EA46, Q5M8M2, Q5R890, Q5TH74, Q5XIJ5, Q5ZIN0, Q5ZJB7, Q63750, Q67FW5, Q6DD70, Q6GL10, Q6GV29, Q6PCB6, Q6UXG2, Q7RTP6, Q7Z6J6, Q86XW9, Q8CJ19, Q8N2K0, Q8N5X7

Diamond homologs: A1L4W5, F1RD40, F2Z461, O74881, O75592, O94955, O95199, O95714, P0C5Y8, P28745, P31386, Q13105, Q15034, Q15751, Q3MHW0, Q4U2R1, Q52KW8, Q54HT1, Q54VW7, Q5BIW4, Q5DX34, Q5RCZ7, Q5SVQ8, Q6NXM2, Q6NYE2, Q6P798, Q6ZPR6, Q7TPH6, Q80YD6, Q811F1, Q8BK67, Q8IVU3, Q8NDN9, Q920R0, Q92834, Q96I51, Q96Q42, Q99LJ7, Q9CTN4, Q9CYF5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 76 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
Mitochondrial ribosome-associated quality control	11	24.1×	2e-10
Mitochondrial translation initiation	10	22.7×	1e-09
Mitochondrial translation elongation	10	22.7×	1e-09
Mitochondrial translation	8	19.7×	3e-07
Mitochondrial translation termination	10	19.6×	4e-09
Translation	9	10.0×	1e-05
mRNA Splicing	5	9.8×	4e-03
Processing of Capped Intron-Containing Pre-mRNA	6	8.8×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	11	26.5×	1e-10
RNA processing	5	15.2×	1e-03
translation	7	10.0×	8e-04
RNA splicing	7	8.6×	1e-03
mRNA processing	7	7.7×	2e-03
mRNA splicing, via spliceosome	6	7.6×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1646 predictions. Top by Δscore:

Variant	Effect	Δscore
7:75052709:AC:A	donor_gain	1.0000
7:75052710:CC:C	donor_gain	1.0000
7:75052797:C:CC	acceptor_gain	1.0000
7:75055899:A:AC	donor_gain	1.0000
7:75055900:C:CT	donor_gain	1.0000
7:75055900:CTGGT:C	donor_gain	1.0000
7:75058586:A:AT	donor_loss	1.0000
7:75058587:CCT:C	donor_loss	1.0000
7:75058765:CAGAC:C	acceptor_gain	1.0000
7:75058766:AGAC:A	acceptor_gain	1.0000
7:75058768:ACCTA:A	acceptor_loss	1.0000
7:75058771:T:A	acceptor_loss	1.0000
7:75058774:CACAG:C	acceptor_gain	1.0000
7:75058776:C:CT	acceptor_gain	1.0000
7:75058777:A:T	acceptor_gain	1.0000
7:75058778:G:C	acceptor_gain	1.0000
7:75058778:G:GC	acceptor_gain	1.0000
7:75063361:T:C	acceptor_gain	1.0000
7:75063361:T:TC	acceptor_gain	1.0000
7:75064649:C:CC	acceptor_gain	1.0000
7:75066662:ACCT:A	donor_gain	1.0000
7:75066663:CCTC:C	donor_gain	1.0000
7:75066789:CTCG:C	acceptor_gain	1.0000
7:75066791:CG:C	acceptor_gain	1.0000
7:75066793:C:CC	acceptor_gain	1.0000
7:75070634:GCTCA:G	donor_loss	1.0000
7:75070635:CTCAC:C	donor_loss	1.0000
7:75070636:TCA:T	donor_loss	1.0000
7:75070637:CA:C	donor_loss	1.0000
7:75070638:A:AC	donor_gain	1.0000

AlphaMissense

2958 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:75061268:A:C	S242R	1.000
7:75061268:A:T	S242R	1.000
7:75061270:T:G	S242R	1.000
7:75052748:C:T	G427E	0.999
7:75052776:A:G	W418R	0.999
7:75052776:A:T	W418R	0.999
7:75056054:A:G	W360R	0.999
7:75056054:A:T	W360R	0.999
7:75058634:C:T	G308E	0.999
7:75058638:A:G	W307R	0.999
7:75058638:A:T	W307R	0.999
7:75070740:G:C	F118L	0.999
7:75070740:G:T	F118L	0.999
7:75070742:A:G	F118L	0.999
7:75052718:G:T	P437Q	0.998
7:75052749:C:G	G427R	0.998
7:75052749:C:T	G427R	0.998
7:75052772:C:A	G419V	0.998
7:75052773:C:G	G419R	0.998
7:75056035:C:T	G366E	0.998
7:75058629:A:G	S310P	0.998
7:75058634:C:A	G308V	0.998
7:75058635:C:G	G308R	0.998
7:75058635:C:T	G308R	0.998
7:75058679:T:A	D293V	0.998
7:75061211:T:A	Q261H	0.998
7:75061211:T:G	Q261H	0.998
7:75061230:C:T	G255E	0.998
7:75064629:A:C	N201K	0.998
7:75064629:A:T	N201K	0.998

dbSNP variants (sampled 300 via entrez): RS1000023208 (7:75051825 C>T), RS1000088023 (7:75060638 C>A), RS1000176824 (7:75057407 G>A,T), RS1000252114 (7:75057538 C>A), RS1000431179 (7:75063685 G>A), RS1000438190 (7:75051461 G>C), RS1000646905 (7:75056391 C>A,G,T), RS1000676421 (7:75067594 C>A,T), RS1000693600 (7:75062160 T>A,G), RS1000865612 (7:75063480 A>G,T), RS1000876203 (7:75067327 G>A), RS1000897169 (7:75036368 C>T), RS1000907326 (7:75067099 C>T), RS1000978023 (7:75030062 C>G), RS1001103593 (7:75072787 G>C)

Disease associations

OMIM: gene MIM:620739 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	4
aristolochic acid I	increases expression	1
trichostatin A	affects expression	1
beta-lapachone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
AM 251	decreases expression	1
monomethylarsonous acid	decreases expression	1
K 7174	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Amiodarone	increases expression	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases expression	1
Demecolcine	increases expression	1
Diethylhexyl Phthalate	decreases expression, increases expression	1
Hydrogen Peroxide	affects cotreatment, decreases expression	1
Lead	decreases expression	1
Ozone	affects expression, increases abundance	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Theophylline	affects cotreatment, decreases expression	1
Thiram	decreases expression	1
Tretinoin	affects cotreatment, decreases expression	1
Vincristine	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Aflatoxin B1	increases methylation	1
Palmitic Acid	increases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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