DNAAF6

Summary

DNAAF6 (dynein axonemal assembly factor 6, HGNC:28570) is a protein-coding gene on chromosome Xq22.3, encoding Dynein axonemal assembly factor 6 (Q9NQM4). Plays a role in cytoplasmic pre-assembly of axonemal dynein.

Enables dynein intermediate chain binding activity. Involved in flagellated sperm motility; inner dynein arm assembly; and outer dynein arm assembly. Located in trans-Golgi network. Implicated in primary ciliary dyskinesia 36.

Source: NCBI Gene 139212 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliary dyskinesia, primary, 36, X-linked (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 130 total — 8 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 53
• MANE Select transcript: NM_173494

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28570
Approved symbol	DNAAF6
Name	dynein axonemal assembly factor 6
Location	Xq22.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC35261, NYSAR97, TWISTER
Ensembl gene	ENSG00000080572
Ensembl biotype	protein_coding
OMIM	300933
Entrez	139212

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000336387, ENST00000372453, ENST00000535523, ENST00000688816, ENST00000970293, ENST00000970294

RefSeq mRNA: 2 — MANE Select: NM_173494 NM_001169154, NM_173494

CCDS: CCDS14528

Canonical transcript exons

ENST00000372453 — 7 exons

Exon	Start	End
ENSE00000363995	107216671	107216743
ENSE00000674335	107218864	107218969
ENSE00000674336	107222745	107222841
ENSE00000674337	107238922	107239007
ENSE00001428923	107212873	107213028
ENSE00001457858	107243169	107244247
ENSE00003897664	107206611	107206690

Expression profiles

Bgee: expression breadth broad, 72 present calls, max score 96.66.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0828 / max 19.4077, expressed in 35 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197173	0.0514	22
197174	0.0314	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	96.66	gold quality
bronchus	UBERON:0002185	95.49	gold quality
sperm	CL:0000019	89.51	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	85.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.79	gold quality
right uterine tube	UBERON:0001302	83.59	gold quality
epithelium of nasopharynx	UBERON:0001951	82.87	gold quality
left testis	UBERON:0004533	79.69	gold quality
right testis	UBERON:0004534	79.55	gold quality
testis	UBERON:0000473	77.81	gold quality
buccal mucosa cell	CL:0002336	77.23	silver quality
oviduct epithelium	UBERON:0004804	73.52	gold quality
bone marrow cell	CL:0002092	70.86	gold quality
fallopian tube	UBERON:0003889	70.24	gold quality
nasal cavity mucosa	UBERON:0001826	68.87	gold quality
upper arm skin	UBERON:0004263	62.80	gold quality
colonic epithelium	UBERON:0000397	62.23	gold quality
caput epididymis	UBERON:0004358	61.17	gold quality
adult organism	UBERON:0007023	60.07	gold quality
trachea	UBERON:0003126	58.76	silver quality
secondary oocyte	CL:0000655	57.39	gold quality
right lung	UBERON:0002167	56.54	gold quality
kidney epithelium	UBERON:0004819	55.03	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.86	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
epithelial cell of pancreas	CL:0000083	53.59	gold quality
oocyte	CL:0000023	52.77	gold quality
quadriceps femoris	UBERON:0001377	51.68	gold quality
endometrium	UBERON:0001295	51.39	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.04

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting DNAAF6, 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-4425	100.00	67.59	1049
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-12132	99.47	68.90	1341
HSA-MIR-4735-5P	99.43	68.49	1780
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-4311	99.31	70.47	3041

Literature-anchored findings (GeneRIF, showing 7)

• Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects (PMID:28041644)
• Study propose that PIH1D3 is part of a complementary conserved R2TP-like HSP90 co-chaperone complex, the loss of which affects assembly of a subset of inner arm dyneins. (PMID:28176794)
• Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia. (PMID:32170493)
• [Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia]. (PMID:32820521)
• Novel deletion mutations of the PIH1D3 gene in an infertile young man with primary ciliary dyskinesia and his cousin with Kartagener’s syndrome. (PMID:33106461)
• Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk. (PMID:34145793)
• Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia. (PMID:38408845)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnaaf6	ENSDARG00000038612
mus_musculus	Dnaaf6rt	ENSMUSG00000026063
mus_musculus	Dnaaf6	ENSMUSG00000042433
rattus_norvegicus	Dnaaf6	ENSRNOG00000054900
drosophila_melanogaster	Dnaaf6	FBGN0036437

Protein

Protein identifiers

Dynein axonemal assembly factor 6 — Q9NQM4 (reviewed: Q9NQM4)

Alternative names: PIH1 domain-containing protein 3, Sarcoma antigen NY-SAR-97

All UniProt accessions (2): Q9NQM4, A0A8I5QJ82

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in cytoplasmic pre-assembly of axonemal dynein.

Subunit / interactions. Interacts with HSPA1A/B and HSP90AA1. Interacts with DNAAF2 and DNAAF4. Interacts wuth DNAI2.

Subcellular location. Cytoplasm. Golgi apparatus. trans-Golgi network.

Tissue specificity. Expressed in testis, small intestine, prostate, adrenal gland, spleen, lung, bladder, breast and ovary. Expressed in ciliated epithelial cells.

Disease relevance. Ciliary dyskinesia, primary, 36, X-linked (CILD36) [MIM:300991] A form of primary ciliary dyskinesia, 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. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD36 inheritance is X-linked recessive. About half of CILD36 patients have laterality defects due to ciliary dysfunction at the embryonic node. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the PIH1 family.

RefSeq proteins (2): NP_001162625, NP_775765* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026697	DNAAF6	Family
IPR041442	PIH1D1/2/3_CS-like	Domain

Pfam: PF18201

UniProt features (8 total): sequence variant 5, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQM4-F1	73.41	0.27

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 172 (showing top): GOBP_INNER_DYNEIN_ARM_ASSEMBLY, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, GOCC_TRANS_GOLGI_NETWORK, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_OUTER_DYNEIN_ARM_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, TGTYNNNNNRGCARM_UNKNOWN, GOCC_ORGANELLE_SUBCOMPARTMENT, MYCMAX_03

GO Biological Process (5): cilium movement (GO:0003341), flagellated sperm motility (GO:0030317), outer dynein arm assembly (GO:0036158), inner dynein arm assembly (GO:0036159), axonemal dynein complex assembly (GO:0070286)

GO Molecular Function (3): dynein intermediate chain binding (GO:0045505), protein-folding chaperone binding (GO:0051087), protein binding (GO:0005515)

GO Cellular Component (3): cytoplasm (GO:0005737), trans-Golgi network (GO:0005802), Golgi apparatus (GO:0005794)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
axonemal dynein complex assembly	2
protein binding	2
microtubule-based movement	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
axoneme assembly	1
protein-containing complex assembly	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
Golgi apparatus subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

886 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAAF6	DNAAF4	Q8WXU2	957
DNAAF6	DNAAF2	Q9NVR5	910
DNAAF6	SPAG1	Q07617	857
DNAAF6	DNAAF11	Q86X45	848
DNAAF6	DNAAF3	Q8N9W5	831
DNAAF6	PIH1D2	Q8WWB5	830
DNAAF6	DNAAF1	Q8NEP3	807
DNAAF6	DNAAF5	Q86Y56	791
DNAAF6	HSP90AB1	P08238	742
DNAAF6	HSP90AA1	P07900	740
DNAAF6	PIH1D1	Q9NWS0	734
DNAAF6	DNAI2	Q9GZS0	727
DNAAF6	CFAP298	P57076	723
DNAAF6	DNAAF10	Q96MX6	721
DNAAF6	RPAP3	Q9H6T3	717

IntAct

53 interactions, top by confidence:

A	B	Type	Score
KAT5	DNAAF6	psi-mi:“MI:0915”(physical association)	0.720
GAS2L2	DNAAF6	psi-mi:“MI:0915”(physical association)	0.600
DNAAF6	GAS2L2	psi-mi:“MI:0915”(physical association)	0.600
DNAAF6	BTAF1	psi-mi:“MI:0915”(physical association)	0.560
CDKL3	DNAAF6	psi-mi:“MI:0915”(physical association)	0.560
CCAR1	DNAAF6	psi-mi:“MI:0915”(physical association)	0.560
DNAAF6	P2RX4	psi-mi:“MI:0915”(physical association)	0.560
DNAAF6	KIF13A	psi-mi:“MI:0915”(physical association)	0.560
DNAAF6	CCAR1	psi-mi:“MI:0915”(physical association)	0.560
KIF13A	DNAAF6	psi-mi:“MI:0915”(physical association)	0.560
DNAAF6	CDKL3	psi-mi:“MI:0915”(physical association)	0.560
	DNAAF6	psi-mi:“MI:0915”(physical association)	0.560
YAF2	DNAAF6	psi-mi:“MI:0915”(physical association)	0.560
TSEN15	DNAAF6	psi-mi:“MI:0915”(physical association)	0.560
PID1	DNAAF6	psi-mi:“MI:0915”(physical association)	0.560
RNF39	DNAAF6	psi-mi:“MI:0915”(physical association)	0.560
QRICH1	DNAAF6	psi-mi:“MI:0915”(physical association)	0.560
DNAAF6	POLDIP2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (18): PIH1D3 (Two-hybrid), PIH1D3 (Two-hybrid), PIH1D3 (Two-hybrid), PIH1D3 (Two-hybrid), PIH1D3 (Two-hybrid), PIH1D3 (Two-hybrid), PIH1D3 (Two-hybrid), PIH1D3 (Two-hybrid), PIH1D3 (Two-hybrid), PIH1D3 (Two-hybrid), PID1 (Two-hybrid), PRKAA2 (Two-hybrid), KAT5 (Two-hybrid), QRICH1 (Two-hybrid), TSEN15 (Two-hybrid)

ESM2 similar proteins: A2A3N6, A3KMI0, D3ZID8, H2KZB2, O14048, O17850, O35987, O43088, O94667, P0C627, P34223, P34511, P34631, P38349, P68543, Q0KL01, Q0P3R5, Q14CS0, Q17R09, Q2PE14, Q3KNI6, Q3SZC4, Q5RBG3, Q5ZK10, Q5ZLK2, Q6P158, Q6PGC1, Q7Y175, Q7Z478, Q8H1E8, Q8IZ07, Q8R512, Q8STL3, Q8WTJ4, Q92620, Q99KJ0, Q9CZ44, Q9D572, Q9HDW4, Q9LK22

Diamond homologs: Q3KNI6, Q9NQM4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	5
Uncertain significance	53
Likely benign	27
Benign	16

Top pathogenic / likely-pathogenic (13)

Variant ID	HGVS	Classification
1683166	NC_000023.10:g.(?106456106)(106462219_?)del	Pathogenic
1683167	NC_000023.10:g.(?106456106)(106486528_?)del	Pathogenic
2778413	NM_173494.2(DNAAF6):c.429+1G>T	Pathogenic
3652140	NM_173494.2(DNAAF6):c.267G>A (p.Trp89Ter)	Pathogenic
375562	NM_173494.2(DNAAF6):c.357_363del (p.Val120fs)	Pathogenic
375563	NM_173494.2(DNAAF6):c.355C>T (p.Gln119Ter)	Pathogenic
4715290	NM_173494.2(DNAAF6):c.251_254dup (p.Asn85delinsLysTer)	Pathogenic
870123	NM_173494.2(DNAAF6):c.322_332del (p.Glu108Valfs)	Pathogenic
1344598	NM_173494.2(DNAAF6):c.332+1G>A	Likely pathogenic
1705566	NM_173494.2(DNAAF6):c.430-1G>A	Likely pathogenic
3728293	NM_173494.2(DNAAF6):c.573T>A (p.Tyr191Ter)	Likely pathogenic
4075425	NM_173494.2(DNAAF6):c.515+3_515+6del	Likely pathogenic
4699126	NM_173494.2(DNAAF6):c.153+1G>A	Likely pathogenic

SpliceAI

901 predictions. Top by Δscore:

Variant	Effect	Δscore
X:107213008:G:GT	donor_gain	1.0000
X:107213048:T:G	donor_gain	1.0000
X:107216665:CCTCA:C	acceptor_loss	1.0000
X:107216666:CTCA:C	acceptor_loss	1.0000
X:107216667:TCAG:T	acceptor_loss	1.0000
X:107216668:CAGAC:C	acceptor_loss	1.0000
X:107216669:A:AG	acceptor_gain	1.0000
X:107216669:A:G	acceptor_loss	1.0000
X:107216670:G:GT	acceptor_gain	1.0000
X:107216670:GA:G	acceptor_gain	1.0000
X:107216670:GAC:G	acceptor_gain	1.0000
X:107216670:GACA:G	acceptor_gain	1.0000
X:107216670:GACAA:G	acceptor_gain	1.0000
X:107216740:AAAGG:A	donor_loss	1.0000
X:107216743:GGT:G	donor_loss	1.0000
X:107216744:G:GA	donor_loss	1.0000
X:107216744:G:GG	donor_gain	1.0000
X:107216745:T:A	donor_loss	1.0000
X:107218859:CACA:C	acceptor_loss	1.0000
X:107218861:C:G	acceptor_gain	1.0000
X:107218861:CA:C	acceptor_loss	1.0000
X:107218862:A:AC	acceptor_loss	1.0000
X:107218862:A:AG	acceptor_gain	1.0000
X:107218863:G:GA	acceptor_gain	1.0000
X:107218863:GT:G	acceptor_gain	1.0000
X:107218863:GTC:G	acceptor_gain	1.0000
X:107218863:GTCA:G	acceptor_gain	1.0000
X:107218863:GTCAT:G	acceptor_gain	1.0000
X:107218965:CCAGA:C	donor_gain	1.0000
X:107218966:CAGA:C	donor_gain	1.0000

AlphaMissense

1429 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:107238992:T:C	L167P	0.991
X:107238995:G:C	R168P	0.990
X:107243174:T:C	L174P	0.986
X:107243246:T:C	L198P	0.983
X:107238935:T:C	L148S	0.982
X:107218958:A:C	R107S	0.978
X:107218958:A:T	R107S	0.978
X:107218966:C:A	P110Q	0.975
X:107238992:T:A	L167H	0.975
X:107222837:T:C	L142P	0.974
X:107238986:T:C	L165P	0.973
X:107243246:T:A	L198H	0.973
X:107218966:C:G	P110R	0.971
X:107238992:T:G	L167R	0.968
X:107238986:T:A	L165H	0.962
X:107238929:T:G	I146S	0.960
X:107222788:T:C	F126L	0.959
X:107222790:T:A	F126L	0.959
X:107222790:T:G	F126L	0.959
X:107218950:G:C	D105H	0.957
X:107218902:T:A	W89R	0.955
X:107218902:T:C	W89R	0.955
X:107238929:T:A	I146N	0.953
X:107212979:T:C	L35P	0.952
X:107238929:T:C	I146T	0.952
X:107238923:C:A	A144D	0.951
X:107243246:T:G	L198R	0.949
X:107238986:T:G	L165R	0.948
X:107222766:G:C	Q118H	0.946
X:107222766:G:T	Q118H	0.946

dbSNP variants (sampled 300 via entrez): RS1000173182 (X:107230943 C>T), RS1000231442 (X:107209992 G>A), RS1000314060 (X:107204721 T>A,C), RS1000460174 (X:107222397 G>A), RS1000653101 (X:107235338 C>A), RS1000666497 (X:107223727 C>A,T), RS1000706628 (X:107210559 C>G,T), RS1000718296 (X:107224235 C>G), RS1000915571 (X:107244125 G>A,T), RS1000954901 (X:107214291 T>C), RS1001173517 (X:107222535 A>G), RS1001251829 (X:107232933 G>T), RS1001276706 (X:107229833 GC>G,GCC), RS1001496804 (X:107240924 C>A), RS1001677406 (X:107231548 T>A)

Disease associations

OMIM: gene MIM:300933 | disease phenotypes: MIM:244400, MIM:300991

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 36, X-linked	Strong	X-linked
primary ciliary dyskinesia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 36, X-linked	Definitive	XL

Mondo (2): primary ciliary dyskinesia (MONDO:0016575), ciliary dyskinesia, primary, 36, X-linked (MONDO:0010517)

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

HPO phenotypes

53 total (30 of 53 shown, HPO-id order):

HPO	Term
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:0001419	X-linked recessive inheritance
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:0003623	Neonatal onset
HP:0005301	Persistent left superior vena cava
HP:0005425	Recurrent sinopulmonary infections

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004860_111	Alcoholic chronic pancreatitis	9.000000e-06
GCST004860_83	Alcoholic chronic pancreatitis	4.000000e-14

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

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases methylation, increases expression	1
aflatoxin B2	increases methylation	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases 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)