CCNQ

Summary

CCNQ (cyclin Q, HGNC:28434) is a protein-coding gene on chromosome Xq28, encoding Cyclin-Q (Q8N1B3). Activating cyclin for the cyclin-associated kinase CDK10.

Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly, telecanthus and anogenital and renal malformations. The protein encoded by this gene contains a cyclin-box-fold domain which suggests it may have a role in controlling nuclear cell division cycles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 92002 — RefSeq curated summary.

At a glance

• Gene–disease (curated): syndactyly-telecanthus-anogenital and renal malformations syndrome (Definitive, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 103 total — 6 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 60
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_152274

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28434
Approved symbol	CCNQ
Name	cyclin Q
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	CycM
Ensembl gene	ENSG00000262919
Ensembl biotype	protein_coding
OMIM	300708
Entrez	92002

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 4 nonsense_mediated_decay

ENST00000429336, ENST00000440428, ENST00000482182, ENST00000576892, ENST00000614850, ENST00000614851, ENST00000620088, ENST00000621629, ENST00000621817, ENST00000875307, ENST00000875308, ENST00000919978, ENST00000951935, ENST00000951936

RefSeq mRNA: 2 — MANE Select: NM_152274 NM_001130997, NM_152274

CCDS: CCDS76054

Canonical transcript exons

ENST00000576892 — 5 exons

Exon	Start	End
ENSE00002633221	153598962	153599139
ENSE00002997830	153596004	153596187
ENSE00003101538	153592506	153592733
ENSE00003220733	153594547	153594679
ENSE00003726121	153587925	153588454

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 95.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.5439 / max 188.2359, expressed in 1813 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200887	17.5439	1813

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	95.20	gold quality
left ventricle myocardium	UBERON:0006566	92.32	silver quality
myocardium	UBERON:0002349	92.26	silver quality
prefrontal cortex	UBERON:0000451	92.25	gold quality
heart left ventricle	UBERON:0002084	92.04	gold quality
cardiac ventricle	UBERON:0002082	91.76	gold quality
anterior cingulate cortex	UBERON:0009835	91.53	gold quality
adenohypophysis	UBERON:0002196	91.40	gold quality
gastrocnemius	UBERON:0001388	91.28	gold quality
apex of heart	UBERON:0002098	91.11	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.05	gold quality
medial globus pallidus	UBERON:0002477	90.99	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.90	gold quality
hypothalamus	UBERON:0001898	90.89	gold quality
muscle of leg	UBERON:0001383	90.54	gold quality
tibialis anterior	UBERON:0001385	90.52	silver quality
right frontal lobe	UBERON:0002810	90.52	gold quality
pituitary gland	UBERON:0000007	90.15	gold quality
amygdala	UBERON:0001876	90.04	gold quality
spinal cord	UBERON:0002240	90.03	gold quality
granulocyte	CL:0000094	89.97	gold quality
heart	UBERON:0000948	89.96	gold quality
globus pallidus	UBERON:0001875	89.76	gold quality
right atrium auricular region	UBERON:0006631	89.69	gold quality
substantia nigra	UBERON:0002038	89.51	gold quality
cardiac atrium	UBERON:0002081	89.50	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.39	gold quality
frontal cortex	UBERON:0001870	89.38	gold quality
neocortex	UBERON:0001950	89.30	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.24	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.67

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting CCNQ, 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-4262	100.00	73.26	3931
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-4801	98.96	69.42	2096
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-6867-3P	98.12	66.07	1305
HSA-MIR-4691-3P	98.11	66.83	1204
HSA-MIR-7111-3P	97.80	66.75	1467
HSA-MIR-6514-3P	97.52	66.50	808
HSA-MIR-3126-3P	97.17	66.51	468

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 5)

• Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. (PMID:18297069)
• These ophthalmic findings are the first reported to our knowledge in association with STAR syndrome. The literature frequently demonstrates that patients with developmental anomalies often have ocular manifestations, warranting a full ophthalmic examination when the diagnosis of STAR syndrome has been made or is being considered. (PMID:26882209)
• this is the first occurrence of a nonsense variant in FAM58A described in individuals with STAR syndrome and the phenotype in this pedigree suggests that tethered cord and hearing loss are features of STAR syndrome. (PMID:28322501)
• Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disorders. (PMID:34369103)
• Functional characterization of the human Cdk10/Cyclin Q complex. (PMID:35291876)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccnq	ENSDARG00000037537
mus_musculus	Ccnq	ENSMUSG00000049489
rattus_norvegicus	Ccnq	ENSRNOG00000022582
drosophila_melanogaster	koko	FBGN0264816
caenorhabditis_elegans		WBGENE00000507
caenorhabditis_elegans		WBGENE00000508

Paralogs (6): CCNT2 (ENSG00000082258), CCNK (ENSG00000090061), CCNT1 (ENSG00000129315), CCNH (ENSG00000134480), CCNL1 (ENSG00000163660), CCNL2 (ENSG00000221978)

Protein

Protein identifiers

Cyclin-Q — Q8N1B3 (reviewed: Q8N1B3)

Alternative names: CDK10-activating cyclin, Cyclin-M, Cyclin-related protein FAM58A

All UniProt accessions (7): Q8N1B3, A0A087WUL6, A0A087WY98, A0A087X0G9, A0A087X1W3, H7C3N1, K7EM37

UniProt curated annotations — full annotation on UniProt →

Function. Activating cyclin for the cyclin-associated kinase CDK10.

Subunit / interactions. Associates with CDK10 to promote its kinase activity. Interacts with SALL1.

Disease relevance. Toe syndactyly, telecanthus, and anogenital and renal malformations (STAR) [MIM:300707] A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Silencing with siRNAs phenocopies CDK10 silencing in increasing c-Raf and in conferring tamoxifen resistance to breast cancer cells.

Similarity. Belongs to the cyclin family. Cyclin-like FAM58 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N1B3-1	1	yes
Q8N1B3-2	2

RefSeq proteins (2): NP_001124469, NP_689487* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006671	Cyclin_N	Domain
IPR013763	Cyclin-like_dom	Domain
IPR036915	Cyclin-like_sf	Homologous_superfamily
IPR043198	Cyclin/Ssn8	Family
IPR048053	Cyclin-Q_second_cyclin_box	Domain
IPR048055	Cyclin-Q_first_cyclin_box	Domain

Pfam: PF00134, PF21797

UniProt features (6 total): chain 1, region of interest 1, compositionally biased region 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N1B3-F1	88.81	0.71

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): 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 230 (showing top): GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_REGULATION_OF_CELL_CYCLE_G2_M_PHASE_TRANSITION, GOBP_REGULATION_OF_CELL_CYCLE, LIAO_METASTASIS, GOBP_CELL_CYCLE_G2_M_PHASE_TRANSITION, GOBP_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION, GOBP_REGULATION_OF_CELL_CYCLE_PROCESS, IVANOVA_HEMATOPOIESIS_INTERMEDIATE_PROGENITOR, GOCC_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, GOCC_TRANSFERASE_COMPLEX, GOCC_PROTEIN_KINASE_COMPLEX, OSF2_Q6, GOBP_CELL_CYCLE_PROCESS

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of cell cycle G2/M phase transition (GO:1902749)

GO Molecular Function (2): cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538), protein binding (GO:0005515)

GO Cellular Component (2): cyclin-dependent protein kinase holoenzyme complex (GO:0000307), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
cell cycle G2/M phase transition	1
regulation of cell cycle phase transition	1
cyclin-dependent protein serine/threonine kinase activity	1
cyclin-dependent protein kinase regulator activity	1
binding	1
serine/threonine protein kinase complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

783 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCNQ	SALL1	Q9NSC2	816
CCNQ	SALL4	Q9UJQ4	785
CCNQ	CDK10	Q15131	776
CCNQ	FLNA	P21333	582
CCNQ	CT47B1	P0C2W7	571
CCNQ	DPY19L4	Q7Z388	535
CCNQ	TMEM9B	Q9NQ34	507
CCNQ	ARGLU1	Q9NWB6	499
CCNQ	NOC4L	Q9BVI4	493
CCNQ	VWA7	Q9Y334	492
CCNQ	MECP2	P51608	483
CCNQ	GK5	Q6ZS86	477
CCNQ	SLC45A1	Q9Y2W3	475
CCNQ	LRRC3	Q9BY71	462
CCNQ	KCNK17	Q96T54	462
CCNQ	HABP4	Q5JVS0	462

IntAct

17 interactions, top by confidence:

A	B	Type	Score
CCNQ	CDK10	psi-mi:“MI:0915”(physical association)	0.640
CCNQ	CDK10	psi-mi:“MI:0407”(direct interaction)	0.640
CCNQ	ETS2	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
CCNQ	CDK10	psi-mi:“MI:0915”(physical association)	0.400
CCNQ	CDK1	psi-mi:“MI:0915”(physical association)	0.370
CCNQ	CDK3	psi-mi:“MI:0915”(physical association)	0.370
CCNQ	GPR37	psi-mi:“MI:0915”(physical association)	0.370
CCNQ	PTPN5	psi-mi:“MI:0915”(physical association)	0.370
CCNQ	UBB	psi-mi:“MI:0914”(association)	0.350
TTC14	AMPD3	psi-mi:“MI:0914”(association)	0.350
CCNQ	DDB2	psi-mi:“MI:0914”(association)	0.350
ARGLU1	PIAS2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (25): UBB (Affinity Capture-MS), FUS (Affinity Capture-MS), BIRC6 (Affinity Capture-MS), MYH14 (Affinity Capture-MS), EIF4E2 (Affinity Capture-MS), CPSF7 (Affinity Capture-MS), TAX1BP1 (Affinity Capture-MS), FAM58A (Affinity Capture-MS), FAM58A (Affinity Capture-MS), FAM58A (Affinity Capture-MS), FAM58A (Affinity Capture-MS), FAM58A (Affinity Capture-MS), FAM58A (Affinity Capture-MS), FAM58A (Affinity Capture-MS), BIRC6 (Affinity Capture-MS)

ESM2 similar proteins: A0FKG7, A0JN39, A1C7R6, D2SW95, P25008, P51946, P51947, P53618, P91926, P93411, Q02384, Q07889, Q07890, Q0CV29, Q10D80, Q16JA2, Q1EAW8, Q29AI1, Q29N38, Q2UDB2, Q32PW3, Q3SX43, Q3UGF1, Q3ZBL9, Q4R7U4, Q4WZT9, Q5BBA8, Q5R922, Q5ZIA5, Q5ZJJ8, Q61458, Q62245, Q63486, Q66HV4, Q6NRC7, Q7L523, Q7QB13, Q7QG73, Q80X95, Q8C8N2

Diamond homologs: Q4QQW5, Q503D6, Q5I0H5, Q5RD50, Q5ZJP9, Q6NRK9, Q7ZVX0, Q8N1B3, Q8QZR8, Q8RWV3, Q9AS36, Q9JJA7, O74627, Q52KE7, Q5BKF8, Q6GN15, Q96S94, Q9C8P7, Q9R1Q2, Q9UK58, F1QMB9, G5EBX3, O75909, O88874, O94612, O96433, Q2QQS5, Q2RAC5, Q56YF8, Q6T8E9, Q8GYM6, Q9FKE6, Q9XT26, P24863, P39947, P55168, Q28F72, Q3ZCK5, Q4KLA0, Q62447

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	3
Uncertain significance	20
Likely benign	17
Benign	26

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
10672	NC_000023.11:g.153585471_153589719del	Pathogenic
10673	NM_152274.5(CCNQ):c.657+1G>A	Pathogenic
10674	NM_152274.5(CCNQ):c.303dup (p.Asn102Ter)	Pathogenic
10675	NM_152274.5(CCNQ):c.658-1G>A	Pathogenic
3246906	NC_000023.10:g.(?152853823)(152853932_?)del	Pathogenic
932643	NM_152274.5(CCNQ):c.655C>T (p.Gln219Ter)	Pathogenic
1684282	NM_152274.5(CCNQ):c.651G>A (p.Trp217Ter)	Likely pathogenic
382099	NM_152274.5(CCNQ):c.616G>T (p.Glu206Ter)	Likely pathogenic
395446	GRCh37/hg19 Xq28(chrX:152864415-152878922)x1	Likely pathogenic

SpliceAI

1176 predictions. Top by Δscore:

Variant	Effect	Δscore
X:153594542:TGTA:T	donor_loss	1.0000
X:153594543:GTACC:G	donor_loss	1.0000
X:153594544:TAC:T	donor_loss	1.0000
X:153594546:CCTT:C	donor_loss	1.0000
X:153594680:C:CG	acceptor_loss	1.0000
X:153594681:T:C	acceptor_loss	1.0000
X:153595998:CATTA:C	donor_loss	1.0000
X:153595999:ATTAC:A	donor_loss	1.0000
X:153596000:TTAC:T	donor_loss	1.0000
X:153596001:TA:T	donor_loss	1.0000
X:153596003:C:CT	donor_loss	1.0000
X:153596184:ACAC:A	acceptor_gain	1.0000
X:153596185:CAC:C	acceptor_gain	1.0000
X:153596185:CACC:C	acceptor_gain	1.0000
X:153596186:AC:A	acceptor_gain	1.0000
X:153596187:CC:C	acceptor_gain	1.0000
X:153596188:C:CA	acceptor_loss	1.0000
X:153596188:C:CC	acceptor_gain	1.0000
X:153596189:T:A	acceptor_loss	1.0000
X:153592500:CCTCA:C	donor_loss	0.9900
X:153592502:TCAC:T	donor_loss	0.9900
X:153592503:CAC:C	donor_loss	0.9900
X:153592504:ACC:A	donor_loss	0.9900
X:153592505:C:T	donor_loss	0.9900
X:153592729:AGGTA:A	acceptor_gain	0.9900
X:153592730:GGTA:G	acceptor_gain	0.9900
X:153592731:GTA:G	acceptor_gain	0.9900
X:153592732:TA:T	acceptor_gain	0.9900
X:153592734:C:CC	acceptor_gain	0.9900
X:153594605:CA:C	donor_gain	0.9900

AlphaMissense

1618 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:153594574:G:C	F134L	1.000
X:153594574:G:T	F134L	1.000
X:153594576:A:G	F134L	1.000
X:153594576:A:T	F134I	0.999
X:153596054:T:A	K82N	0.999
X:153596054:T:G	K82N	0.999
X:153596082:G:T	A73D	0.999
X:153596148:G:T	A51D	0.999
X:153592514:A:G	W217R	0.998
X:153592514:A:T	W217R	0.998
X:153592588:G:T	A192D	0.998
X:153594575:A:G	F134S	0.998
X:153594576:A:C	F134V	0.998
X:153594587:C:A	R130I	0.998
X:153594590:A:G	L129P	0.998
X:153594599:A:G	L126P	0.998
X:153594602:T:A	E125V	0.998
X:153596055:T:A	K82I	0.998
X:153596061:G:T	A80D	0.998
X:153596187:C:T	G38D	0.998
X:153588402:A:G	L237P	0.997
X:153592632:G:C	S177R	0.997
X:153592632:G:T	S177R	0.997
X:153592634:T:G	S177R	0.997
X:153592642:A:G	L174P	0.997
X:153592654:G:T	A170D	0.997
X:153592729:A:G	L145P	0.997
X:153594623:C:G	R118P	0.997
X:153596058:C:T	G81D	0.997
X:153596062:C:G	A80P	0.997

dbSNP variants (sampled 300 via entrez): RS1000138222 (X:153600725 T>C), RS1000479562 (X:153601016 G>A,C), RS1000863489 (X:153587636 C>T), RS1000877975 (X:153594834 T>C), RS1001551198 (X:153591789 G>A), RS1001646018 (X:153591507 C>T), RS1001760172 (X:153598714 C>G), RS1002935836 (X:153594957 T>A), RS1003226144 (X:153590232 A>T), RS1003319989 (X:153589886 C>T), RS1003480692 (X:153596508 C>G,T), RS1003834433 (X:153596795 T>C), RS1004043178 (X:153590582 G>A,C), RS1004198215 (X:153597367 A>T), RS1004251970 (X:153596906 G>T)

Disease associations

OMIM: gene MIM:300708 | disease phenotypes: MIM:300707

GenCC curated gene-disease

Disease	Classification	Inheritance
syndactyly-telecanthus-anogenital and renal malformations syndrome	Definitive	X-linked

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
syndactyly-telecanthus-anogenital and renal malformations syndrome	Moderate	XL

Mondo (3): syndactyly-telecanthus-anogenital and renal malformations syndrome (MONDO:0010408), neutropenia (MONDO:0001475), lymphopenia (MONDO:0003783)

Orphanet (1): Syndactyly-telecanthus-anogenital and renal malformations syndrome (Orphanet:140952)

HPO phenotypes

60 total (30 of 60 shown, HPO-id order):

HPO	Term
HP:0000066	Labial hypoplasia
HP:0000072	Hydroureter
HP:0000076	Vesicoureteral reflux
HP:0000083	Renal insufficiency
HP:0000085	Horseshoe kidney
HP:0000086	Ectopic kidney
HP:0000104	Renal agenesis
HP:0000125	Pelvic kidney
HP:0000126	Hydronephrosis
HP:0000143	Rectovaginal fistula
HP:0000219	Thin upper lip vermilion
HP:0000337	Broad forehead
HP:0000369	Low-set ears
HP:0000394	Lop ear
HP:0000414	Bulbous nose
HP:0000431	Wide nasal bridge
HP:0000445	Wide nose
HP:0000455	Broad nasal tip
HP:0000460	Narrow nose
HP:0000506	Telecanthus
HP:0000545	Myopia
HP:0000556	Retinal dystrophy
HP:0000625	Eyelid coloboma
HP:0000813	Bicornuate uterus
HP:0000954	Single transverse palmar crease
HP:0001153	Septate vagina
HP:0001250	Seizure
HP:0001363	Craniosynostosis
HP:0001382	Joint hypermobility
HP:0001423	X-linked dominant inheritance

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001666_7	Type 2 diabetes	2.000000e-09
GCST004904_13	Body mass index	1.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D008231	Lymphopenia	C15.378.243.750.605; C15.378.553.546.605; C20.673.627
D009503	Neutropenia	C15.378.243.750.184.564; C15.378.553.546.184.564
C567475	Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
pirinixic acid	increases activity, affects binding, decreases expression	1
bisphenol A	decreases expression	1
beta-lapachone	decreases expression, increases expression	1
sodium arsenite	decreases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Doxorubicin	increases expression	1
Hydrogen Peroxide	affects expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	increases methylation	1
Okadaic Acid	increases expression	1
Copper Sulfate	decreases expression	1
Vitamin K 3	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00030758	PHASE4	UNKNOWN	Filgrastim or Pegfilgrastim in Preventing Neutropenia in Women Receiving Chemotherapy Following Surgery for Breast Cancer
NCT00125723	PHASE4	COMPLETED	FIRST - Study of Pegfilgrastim Administered in the First and Subsequent Cycles of Myelosuppressive Chemotherapy
NCT00194857	PHASE4	TERMINATED	Treatment of Anemia and Neutropenia in HIV/HCV Coinfected Patients Treated With Pegylated Interferon and Ribavirin
NCT00257790	PHASE4	COMPLETED	The Tobramycin Study
NCT00277160	PHASE4	COMPLETED	A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer
NCT00686543	PHASE4	COMPLETED	Oral Posaconazole in High Risk Patients With Gastrointestinal Dysfunction (Study P05115)
NCT01086878	PHASE4	COMPLETED	Safety of Cotrimoxazole in HIV- and HAART-exposed Infants
NCT01114165	PHASE4	COMPLETED	Value of the LightCycler® SeptiFast Test MGRADE for the Pathogen Detection in Neutropenic Hematological Patients
NCT01135589	PHASE4	UNKNOWN	Micafungin Prevention Study for Fungal Disease in Child Receiving Allogenic Hematopoietic Stem Cell Transplantation
NCT01571518	PHASE4	UNKNOWN	Prevention of Neutropenia After Using G-CSF With TAC Chemotherapy
NCT02621905	PHASE4	COMPLETED	Steady-State Comparative Bioavailability Study in Prophylaxis Patients of Lozanoc® 50 mg With Sporanox® 100 mg
NCT02967341	PHASE4	UNKNOWN	Blood Draw Validation for Ciprofloxacin Pharmacokinetic Research in Pediatric Cancer Patients
NCT04009941	PHASE4	COMPLETED	Efficacy and Safety of 4.5mg PEG-rhG-CSF Per Cycle in Preventing Neutropenia After Intensive Chemotherapy for Breast Cancer
NCT04904614	PHASE4	COMPLETED	Letermovir Use in Heart Transplant Recipients
NCT05626530	PHASE4	RECRUITING	Letermovir for Secondary Prophylaxis in Solid Organ Transplant Recipients
NCT06145321	PHASE4	ACTIVE_NOT_RECRUITING	Continuous Versus Bolus Administration of G-CSF in Children With Cancer
NCT00001338	PHASE3	COMPLETED	A Prospective, Randomized, Phase III Trial of FLAC (5-Fluorouracil, Leucovorin, Adriamycin, Cytoxan) Chemotherapy With GM-CSF (Granulocyte-Macrophage Colony-Stimulating Factor) Versus PIXY 321 in Advanced Breast Cancer
NCT00001646	PHASE3	COMPLETED	Voriconazole vs. Amphotericin B in the Treatment of Invasive Aspergillosis
NCT00002658	PHASE3	UNKNOWN	Combination Chemotherapy, Biological Therapy, and Bone Marrow Transplantation in Treating Patients With Acute Myeloid Leukemia
NCT00002719	PHASE3	COMPLETED	Combination Chemotherapy With or Without G-CSF in Treating Older Patients With Acute Myeloid Leukemia
NCT00003739	PHASE3	COMPLETED	Antibiotic Therapy With or Without G-CSF in Treating Children With Neutropenia and Fever Caused by Chemotherapy
NCT00020865	PHASE3	UNKNOWN	Levofloxacin Compared With Cefepime in Treating Cancer Patients With Fever and Neutropenia
NCT00035594	PHASE3	COMPLETED	Pegfilgrastim as Support to Advanced Breast Cancer Patients Receiving Chemotherapy
NCT00044486	PHASE3	COMPLETED	Prophylaxis Trial of Posaconazole Versus Standard Azole Therapy for Neutropenic Patients (Study P01899)
NCT00107081	PHASE3	TERMINATED	Low-risk Fever and Neutropenia in Children With Cancer: Safety and Efficacy of Oral Antibiotics in an Outpatient Setting
NCT00445497	PHASE3	UNKNOWN	Early Hospital Discharge or Standard Inpatient Care in Cancer Patients Receiving Antibiotics for Febrile Neutropenia
NCT00529282	PHASE3	TERMINATED	A Study of Ceftobiprole in Patients With Fever and Neutropenia.
NCT00627393	PHASE3	COMPLETED	Safety and Effectiveness of Granulocyte Transfusions in Resolving Infection in People With Neutropenia (The RING Study)
NCT00770172	PHASE3	COMPLETED	G-CSF in Preventing Neutropenia in Patients With Solid Tumors Who Are Receiving Chemotherapy
NCT00784368	PHASE3	COMPLETED	A Pharmacokinetic Study of JK1211(Itraconazole [Itrizole]) Oral Solution in Participants With Deep Mycosis and Those With Febrile Neutropenia Suspected of Fungal Infection
NCT00806351	PHASE3	TERMINATED	An Evaluation Of The Effectiveness And Safety Of Anidulafungin Compared To Caspofungin For The Treatment Of Serious Fungal Infection Due To Candida In Patients With A Dysfunctional Immune System
NCT00911170	PHASE3	COMPLETED	PAVES: Pegfilgrastim Anti-vascular Endothelial Growth Factor (VEGF) Evaluation Study
NCT01307579	PHASE3	COMPLETED	Caspofungin Versus Fluconazole in Preventing Invasive Fungal Infections (IFI) in Patients Undergoing Chemotherapy for Acute Myeloid Leukemia
NCT01371656	PHASE3	COMPLETED	Levofloxacin in Preventing Infection in Young Patients With Acute Leukemia Receiving Chemotherapy or Undergoing Stem Cell Transplantation
NCT01560195	PHASE3	UNKNOWN	A Study of Pegylated rhG-CSF as Support to Advanced Non-Small-Cell Lung Cancer (NSCLC) Patients Receiving Chemotherapy Receiving Chemotherapy
NCT01611051	PHASE3	COMPLETED	A Study Comparing Pegylated rhG-CSF and rhG-CSF as Support to Breast Cancer Patients Receiving Chemotherapy
NCT02238873	PHASE3	UNKNOWN	Pegfilgrastim on Day +3 Compared to Day +1 After Salvage Chemotherapy for Patients With Refractory or Relapsed Aggressive Lymphoma
NCT02414581	PHASE3	COMPLETED	Mouthwash With Chlorhexidine 0.12%/Ethyl Alcohol 7% Compared to Ethyl Alcohol 7%
NCT02643420	PHASE3	COMPLETED	SPI-2012 vs Pegfilgrastim in the Management of Neutropenia in Participants With Breast Cancer With Docetaxel and Cyclophosphamide (ADVANCE)
NCT02872103	PHASE3	COMPLETED	Placebo-controlled Trial of F-627 in Women With Breast Cancer Receiving Myelotoxic Chemotherapy