DRC2

Summary

DRC2 (dynein regulatory complex subunit 2, HGNC:29937) is a protein-coding gene on chromosome 12q13.12, encoding Dynein regulatory complex subunit 2 (Q8IXS2). Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes.

This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia.

Source: NCBI Gene 85478 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 27 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 281 total — 15 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 56
• MANE Select transcript: NM_033124

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29937
Approved symbol	DRC2
Name	dynein regulatory complex subunit 2
Location	12q13.12
Locus type	gene with protein product
Status	Approved
Aliases	NYD-SP28, FLJ35732, FAP250, CFAP250, CILD27, DRC2
Ensembl gene	ENSG00000139537
Ensembl biotype	protein_coding
OMIM	611088
Entrez	85478

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000266984, ENST00000320516, ENST00000547861, ENST00000552188, ENST00000552942, ENST00000943642

RefSeq mRNA: 2 — MANE Select: NM_033124 NM_001286957, NM_033124

CCDS: CCDS8772

Canonical transcript exons

ENST00000320516 — 8 exons

Exon	Start	End
ENSE00001221846	48921168	48921576
ENSE00001664049	48904946	48905113
ENSE00002428559	48904133	48904468
ENSE00003497888	48918275	48918472
ENSE00003593758	48918685	48918903
ENSE00003604654	48914404	48914573
ENSE00003680376	48916970	48917108
ENSE00003687088	48920930	48921082

Expression profiles

Bgee: expression breadth ubiquitous, 179 present calls, max score 95.28.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5757 / max 129.4614, expressed in 303 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
125280	0.7235	205
125282	0.6623	74
125281	0.1190	45
125279	0.0709	21

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.28	gold quality
bronchial epithelial cell	CL:0002328	93.36	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.67	gold quality
bronchus	UBERON:0002185	92.15	gold quality
left testis	UBERON:0004533	90.12	gold quality
right testis	UBERON:0004534	89.83	gold quality
granulocyte	CL:0000094	89.12	gold quality
testis	UBERON:0000473	87.79	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.65	gold quality
oviduct epithelium	UBERON:0004804	86.07	gold quality
mucosa of paranasal sinus	UBERON:0005030	84.19	gold quality
right frontal lobe	UBERON:0002810	84.00	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.85	gold quality
fallopian tube	UBERON:0003889	82.77	gold quality
anterior cingulate cortex	UBERON:0009835	82.23	gold quality
epithelium of nasopharynx	UBERON:0001951	82.10	gold quality
nasopharynx	UBERON:0001728	82.09	gold quality
Brodmann (1909) area 9	UBERON:0013540	81.35	gold quality
nucleus accumbens	UBERON:0001882	80.49	gold quality
cortical plate	UBERON:0005343	79.96	gold quality
caudate nucleus	UBERON:0001873	79.37	gold quality
amygdala	UBERON:0001876	79.31	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	78.16	gold quality
hypothalamus	UBERON:0001898	77.99	gold quality
adenohypophysis	UBERON:0002196	77.54	gold quality
prefrontal cortex	UBERON:0000451	77.15	gold quality
putamen	UBERON:0001874	76.47	gold quality
nasal cavity mucosa	UBERON:0001826	75.95	gold quality
right hemisphere of cerebellum	UBERON:0014890	75.76	gold quality
cerebellar hemisphere	UBERON:0002245	75.51	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.47
E-MTAB-9388	yes	6.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting DRC2, 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-3613-3P	100.00	76.36	7965
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-3190-3P	97.61	66.95	1406
HSA-MIR-216B-5P	97.16	66.76	1126
HSA-MIR-517-5P	97.13	68.43	781
HSA-MIR-5694	97.06	67.70	682
HSA-MIR-3059-3P	96.71	67.08	606
HSA-MIR-1251-5P	95.78	64.10	374

Literature-anchored findings (GeneRIF, showing 4)

• NYD-SP28, a sperm tail protein, was cloned and characterized. (PMID:17089017)
• Mutation in CCDC65, a nexin-dynein regulatory complex member, resulted in a frameshift mutation and PCD (PMID:23991085)
• CCDC65 as a new potential tumor suppressor induced by metformin inhibits activation of AKT1 via ubiquitination of ENO1 in gastric cancer. (PMID:34335983)
• CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans. (PMID:37975235)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc65	ENSDARG00000032005
mus_musculus	Ccdc65	ENSMUSG00000003354
rattus_norvegicus	Ccdc65	ENSRNOG00000058916
drosophila_melanogaster	CG30259	FBGN0050259

Paralogs (1): DRC1 (ENSG00000157856)

Protein

Protein identifiers

Dynein regulatory complex subunit 2 — Q8IXS2 (reviewed: Q8IXS2)

Alternative names: Coiled-coil domain-containing protein 65, Testis development protein NYD-SP28

All UniProt accessions (3): Q8IXS2, F8VR42, F8W0R6

UniProt curated annotations — full annotation on UniProt →

Function. Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with DRC1 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules.

Subunit / interactions. Component of the nexin-dynein regulatory complex (N-DRC). Interacts with DRC1.

Subcellular location. Cytoplasm. Cytoskeleton. Flagellum basal body. Cell projection. Cilium. Flagellum. Flagellum axoneme.

Tissue specificity. Highly expressed in adult testis, in spermatocytes and spermatids. Also observed in spermatogonia. Not detected in Leydig cells, nor in fetal testis (at protein level).

Disease relevance. Ciliary dyskinesia, primary, 27 (CILD27) [MIM:615504] A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. The disease is caused by variants affecting the gene represented in this entry. Cilia ultrastructure show normal outer dynein arms, radial spokes and central pairs, but a reduction in inner dynein arms and nexin links. In 5%-15% of cilia, microtubules are disorganized. Nasal epithelial cilia reveal a stiff, dyskinetic cilia waveform.

Similarity. Belongs to the DRC2 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IXS2-1	1	yes
Q8IXS2-2	2

RefSeq proteins (2): NP_001273886, NP_149115* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039505	DRC1/2_N	Domain
IPR039750	DRC1/DRC2	Family

Pfam: PF14772

UniProt features (10 total): sequence conflict 4, coiled-coil region 2, sequence variant 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IXS2-F1	83.21	0.57

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 222 (showing top): GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER, COUP_01, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, CCTGTGA_MIR513, GOBP_CILIUM_MOVEMENT, GOBP_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, CYTAGCAAY_UNKNOWN

GO Biological Process (4): regulation of cilium movement (GO:0003352), cilium assembly (GO:0060271), cilium-dependent cell motility (GO:0060285), axonemal dynein complex assembly (GO:0070286)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): axonemal dynein complex (GO:0005858), axoneme (GO:0005930), motile cilium (GO:0031514), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cilium movement	2
axoneme assembly	2
cilium	2
regulation of microtubule-based movement	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
cilium or flagellum-dependent cell motility	1
protein-containing complex assembly	1
binding	1
axoneme	1
dynein complex	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
microtubule organizing center	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

1227 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DRC2	DRC4	O95995	908
DRC2	DRC1	Q96MC2	876
DRC2	CCDC40	Q4G0X9	867
DRC2	CCDC39	Q9UFE4	855
DRC2	DRC7	Q8IY82	829
DRC2	SERPINE2	P07093	790
DRC2	RSPH9	Q9H1X1	790
DRC2	DRC5	Q5JU00	779
DRC2	DNAAF11	Q86X45	766
DRC2	RBM45	Q8IUH3	741
DRC2	CFAP298	P57076	741
DRC2	RSPH4A	Q5TD94	737
DRC2	DNAAF5	Q86Y56	714
DRC2	RSPH1	Q8WYR4	712
DRC2	DNAAF19	Q8IW40	711

IntAct

5 interactions, top by confidence:

A	B	Type	Score
CCDC65	MRPL12	psi-mi:“MI:0915”(physical association)	0.400
CCDC65	NCL	psi-mi:“MI:0915”(physical association)	0.400
CCDC65	SLTM	psi-mi:“MI:0915”(physical association)	0.400
CCDC65	MYCBP2	psi-mi:“MI:0914”(association)	0.350

BioGRID (29): HERC1 (Affinity Capture-MS), MYCBP2 (Affinity Capture-MS), PCM1 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), HERC2 (Affinity Capture-MS), CCDC65 (Proximity Label-MS), CCDC65 (Proximity Label-MS), SLTM (Proximity Label-MS), MYCBP2 (Affinity Capture-MS), HERC2 (Affinity Capture-MS), HERC1 (Affinity Capture-MS), PCM1 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), ENO1 (Affinity Capture-MS), ENO1 (Affinity Capture-Western)

ESM2 similar proteins: A0A0R4IFG5, A0A480NP79, A0A974E306, A0AUP1, A0AUT1, A0JLY1, A4IJ21, A8I9E8, A8IRJ7, B0W6N3, B4GDX4, B4K250, B4NIC3, B4PTS9, E1BJL9, F1N7G5, Q0VC09, Q0VFZ6, Q173M7, Q1RM03, Q295G5, Q2KIQ2, Q2TA16, Q32LJ7, Q32LN4, Q3TVW5, Q4R698, Q4R7G7, Q4R7T8, Q5RE49, Q5XIN9, Q61884, Q6AXN9, Q6AXQ8, Q6AYL4, Q6PBA8, Q7PGE8, Q7Z4T9, Q8BRC6, Q8IXS2

Diamond homologs: A8JB22, Q2TA16, Q4R7G7, Q5XIJ8, Q8IXS2, Q8VHI7, Q6DHI2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CCDC65	“form complex”	“Nexin-dynein regulatory complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	15
Likely pathogenic	4
Uncertain significance	120
Likely benign	82
Benign	44

Top pathogenic / likely-pathogenic (19)

Variant ID	HGVS	Classification
1450804	NM_033124.5(DRC2):c.739del (p.Leu247fs)	Pathogenic
1905890	NM_033124.5(DRC2):c.469dup (p.Arg157fs)	Pathogenic
1959634	NM_033124.5(DRC2):c.904_905del (p.Val302fs)	Pathogenic
2053606	NM_033124.5(DRC2):c.699del (p.Asn232_Tyr233insTer)	Pathogenic
2156089	NM_033124.5(DRC2):c.195G>A (p.Trp65Ter)	Pathogenic
2820721	NM_033124.5(DRC2):c.205dup (p.Leu69fs)	Pathogenic
2916429	NM_033124.5(DRC2):c.968_971del (p.Val323fs)	Pathogenic
3620853	NM_033124.5(DRC2):c.339C>G (p.Tyr113Ter)	Pathogenic
3667024	NM_033124.5(DRC2):c.710_711del (p.Thr237fs)	Pathogenic
3688873	NM_033124.5(DRC2):c.966dup (p.Val323fs)	Pathogenic
474640	NM_033124.5(DRC2):c.494del (p.Glu165fs)	Pathogenic
4788719	NM_033124.5(DRC2):c.339C>A (p.Tyr113Ter)	Pathogenic
4789177	NM_033124.5(DRC2):c.805C>T (p.Gln269Ter)	Pathogenic
644753	NM_033124.5(DRC2):c.718C>T (p.Arg240Ter)	Pathogenic
649817	NM_033124.5(DRC2):c.658G>T (p.Glu220Ter)	Pathogenic
1508617	NM_033124.5(DRC2):c.470+1G>A	Likely pathogenic
2053470	NM_033124.5(DRC2):c.301-2A>C	Likely pathogenic
3367020	NM_033124.5(CCDC65):c.876T>G (p.Tyr292Ter)	Likely pathogenic
4793393	NM_033124.5(DRC2):c.807+1G>C	Likely pathogenic

SpliceAI

3118 predictions. Top by Δscore:

Variant	Effect	Δscore
12:48904469:G:GA	donor_loss	1.0000
12:48905110:CAAG:C	donor_loss	1.0000
12:48905111:AAGG:A	donor_loss	1.0000
12:48914402:A:AG	acceptor_gain	1.0000
12:48914403:G:GG	acceptor_gain	1.0000
12:48914522:A:T	donor_gain	1.0000
12:48914542:G:GT	donor_gain	1.0000
12:48914556:G:GT	donor_gain	1.0000
12:48914557:GAGTT:G	donor_gain	1.0000
12:48914569:GAAAG:G	donor_gain	1.0000
12:48914575:T:G	donor_loss	1.0000
12:48918259:T:TA	acceptor_gain	1.0000
12:48918260:G:A	acceptor_gain	1.0000
12:48918440:G:GT	donor_gain	1.0000
12:48918472:GGTT:G	donor_loss	1.0000
12:48918473:GTTA:G	donor_loss	1.0000
12:48918769:G:GT	donor_gain	1.0000
12:48918860:A:T	donor_gain	1.0000
12:48920924:A:AG	acceptor_gain	1.0000
12:48920925:A:G	acceptor_gain	1.0000
12:48920925:AATAG:A	acceptor_gain	1.0000
12:48920926:ATAG:A	acceptor_gain	1.0000
12:48920927:TAG:T	acceptor_loss	1.0000
12:48920928:A:AG	acceptor_gain	1.0000
12:48920928:A:AT	acceptor_loss	1.0000
12:48920928:AG:A	acceptor_gain	1.0000
12:48920928:AGG:A	acceptor_gain	1.0000
12:48920928:AGGGT:A	acceptor_gain	1.0000
12:48920929:G:A	acceptor_gain	1.0000
12:48920929:G:GG	acceptor_gain	1.0000

AlphaMissense

3244 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:48914428:G:C	A109P	0.987
12:48905006:T:A	W65R	0.982
12:48905006:T:C	W65R	0.982
12:48905043:T:C	L77P	0.982
12:48905022:G:C	R70P	0.981
12:48905082:G:C	R90P	0.981
12:48914420:T:C	L106P	0.973
12:48905019:T:C	L69P	0.972
12:48905064:T:C	L84P	0.969
12:48914483:T:C	L127P	0.967
12:48914504:G:C	R134P	0.966
12:48914449:G:C	A116P	0.964
12:48905008:G:C	W65C	0.963
12:48905008:G:T	W65C	0.963
12:48921295:T:C	L436P	0.963
12:48918851:T:C	L325P	0.962
12:48918884:T:C	L336P	0.962
12:48905032:G:C	K73N	0.959
12:48905032:G:T	K73N	0.959
12:48905075:T:C	F88L	0.958
12:48905077:T:A	F88L	0.958
12:48905077:T:G	F88L	0.958
12:48921198:T:C	F404L	0.956
12:48921200:C:A	F404L	0.956
12:48921200:C:G	F404L	0.956
12:48920974:A:C	E357D	0.954
12:48920974:A:T	E357D	0.954
12:48921283:T:C	L432P	0.954
12:48905098:G:C	K95N	0.953
12:48905098:G:T	K95N	0.953

dbSNP variants (sampled 300 via entrez): RS1000303832 (12:48919016 A>G), RS1000351565 (12:48911843 A>G), RS1000850419 (12:48912474 G>C,T), RS1000914304 (12:48920713 G>A), RS1001013623 (12:48905626 A>G), RS1001074566 (12:48919883 G>A), RS1001715777 (12:48908040 C>G), RS1001785117 (12:48913517 G>A), RS1001822405 (12:48905529 C>A,G,T), RS1001891304 (12:48912540 G>A), RS1002141136 (12:48919461 A>G,T), RS1002408719 (12:48919629 T>A,C), RS1002467821 (12:48921825 G>A), RS1002551306 (12:48903349 T>G), RS1002679403 (12:48909321 G>A)

Disease associations

OMIM: gene MIM:611088 | disease phenotypes: MIM:615504, MIM:244400

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 27	Definitive	Autosomal recessive
primary ciliary dyskinesia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
primary ciliary dyskinesia 27	Definitive	AR

Mondo (2): primary ciliary dyskinesia 27 (MONDO:0014215), primary ciliary dyskinesia (MONDO:0016575)

Orphanet (1): Primary ciliary dyskinesia (Orphanet:244)

HPO phenotypes

56 total (30 of 56 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000119	Abnormality of the genitourinary system
HP:0000238	Hydrocephalus
HP:0000365	Hearing impairment
HP:0000389	Chronic otitis media
HP:0000403	Recurrent otitis media
HP:0000405	Conductive hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000750	Delayed speech and language development
HP:0000924	Abnormality of the skeletal system
HP:0001217	Clubbing
HP:0001627	Abnormal heart morphology
HP:0001669	Transposition of the great arteries
HP:0001696	Situs inversus totalis
HP:0001719	Double outlet right ventricle
HP:0001742	Nasal congestion
HP:0001746	Asplenia
HP:0001748	Polysplenia
HP:0002011	Morphological central nervous system abnormality
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002205	Recurrent respiratory infections
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0003593	Infantile onset
HP:0004469	Chronic bronchitis
HP:0005301	Persistent left superior vena cava

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007269_51	Pulse pressure	4.000000e-14

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
bisphenol A	decreases methylation	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	increases expression	1
Rotenone	decreases expression	1
Smoke	increases abundance, increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02871778	PHASE2	COMPLETED	Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia
NCT07318974	PHASE2	ACTIVE_NOT_RECRUITING	Melatonin Therapy for Improving ICSI Outcomes in Women With Diminished Ovarian Reserve
NCT05737485	PHASE1	COMPLETED	Study Evaluating the Safety and Tolerability of RCT1100 in Healthy and PCD Subjects
NCT06600425	PHASE1	COMPLETED	A Study to Assess the Safety, Tolerability, Ciliary Rescue, and Pharmacodynamics of RCT1100 in Adults With PCD
NCT06633757	PHASE1	COMPLETED	Study of Inhaled RCT1100 in Adults With PCD Caused by Pathogenic Mutations in the DNAI1 Gene to Measure Mucociliary Clearance
NCT04901715	EARLY_PHASE1	COMPLETED	Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
NCT00005650	Not specified	COMPLETED	Genetic Study of Patients With Primary Ciliary Dyskinesia
NCT00323167	Not specified	COMPLETED	Rare Genetic Disorders of the Breathing Airways
NCT00368446	Not specified	COMPLETED	Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease
NCT00450918	Not specified	COMPLETED	Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents
NCT00608556	Not specified	COMPLETED	Dyskinesia, Heterotaxy and Congenital Heart Disease
NCT00686309	Not specified	UNKNOWN	Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)
NCT00722878	Not specified	COMPLETED	Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease
NCT00739817	Not specified	UNKNOWN	Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide
NCT00783887	Not specified	COMPLETED	Diagnosis of Primary Ciliary Dyskinesia
NCT00807482	Not specified	RECRUITING	Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
NCT01070914	Not specified	UNKNOWN	Early Detection and Characterization of Primary Ciliary Dyskinesia
NCT01155115	Not specified	COMPLETED	Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia
NCT01246258	Not specified	COMPLETED	Otolith Function in Patients With Primary Ciliary Dyskinesia
NCT01929356	Not specified	RECRUITING	Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia
NCT02389049	Not specified	COMPLETED	Genetics of Primary Ciliary Dyskinesia
NCT02419365	Not specified	RECRUITING	International Primary Ciliary Dyskinesia (PCD) Registry
NCT02699177	Not specified	UNKNOWN	In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry
NCT02704455	Not specified	NOT_YET_RECRUITING	Registry Study on Primary Ciliary Dyskinesia in Chinese Children
NCT03271840	Not specified	COMPLETED	Registry for Primary Ciliary Dyskinesia
NCT03279965	Not specified	UNKNOWN	MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03320382	Not specified	UNKNOWN	Multiple Breath Washout, a Clinimetric Dataset
NCT03370029	Not specified	COMPLETED	Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia
NCT03494894	Not specified	COMPLETED	Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03517865	Not specified	ACTIVE_NOT_RECRUITING	International Primary Ciliary Dyskinesia Cohort
NCT03606200	Not specified	RECRUITING	Swiss Primary Ciliary Dyskinesia Registry
NCT03704207	Not specified	RECRUITING	Utility of PCD Diagnostics to Improve Clinical Care
NCT03704896	Not specified	UNKNOWN	PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients
NCT03801395	Not specified	COMPLETED	PCD New Gene Discovery
NCT03809091	Not specified	UNKNOWN	WGS of Korean Idiopathic Bronchiectasis
NCT03832491	Not specified	COMPLETED	Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia
NCT04161313	Not specified	COMPLETED	Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With CF, PCD and Healthy Children
NCT04476433	Not specified	COMPLETED	Intervention in Chronic Pediatric Patients and Their Families.
NCT04489472	Not specified	UNKNOWN	The Effect of a Dietary Supplement Rich in Nitric Oxide in Patients Diagnosed With Primary Ciliary Dyskinesia.
NCT04602481	Not specified	RECRUITING	Living With Primary Ciliary Dyskinesia (Living With PCD)