ODAD4

Summary

ODAD4 (outer dynein arm docking complex subunit 4, HGNC:25280) is a protein-coding gene on chromosome 17q21.2, encoding Outer dynein arm-docking complex subunit 4 (Q96NG3). Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule.

This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 83538 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 35 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 94 total — 7 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 52
• MANE Select transcript: NM_031421

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25280
Approved symbol	ODAD4
Name	outer dynein arm docking complex subunit 4
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434H0115
Ensembl gene	ENSG00000204815
Ensembl biotype	protein_coding
OMIM	617095
Entrez	83538

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 3 nonsense_mediated_decay

ENST00000377540, ENST00000585530, ENST00000591658, ENST00000593239, ENST00000918347, ENST00000918348

RefSeq mRNA: 2 — MANE Select: NM_031421 NM_001350319, NM_031421

CCDS: CCDS74063

Canonical transcript exons

ENST00000377540 — 12 exons

Exon	Start	End
ENSE00002810599	41938557	41938781
ENSE00002833837	41930617	41930837
ENSE00002859128	41938965	41939172
ENSE00002931791	41955217	41955317
ENSE00002972548	41945136	41945222
ENSE00003487909	41936473	41936534
ENSE00003626768	41936762	41936927
ENSE00003726744	41949153	41949349
ENSE00003728868	41935599	41935749
ENSE00003731512	41964993	41966503
ENSE00003745237	41961382	41961466
ENSE00003750318	41935217	41935348

Expression profiles

Bgee: expression breadth ubiquitous, 196 present calls, max score 95.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.1104 / max 106.0050, expressed in 1074 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160887	2.7560	1014
160888	0.3543	165

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.59	gold quality
bronchial epithelial cell	CL:0002328	95.37	gold quality
sperm	CL:0000019	94.80	gold quality
oviduct epithelium	UBERON:0004804	94.64	gold quality
bronchus	UBERON:0002185	94.42	gold quality
pancreatic ductal cell	CL:0002079	93.05	gold quality
left testis	UBERON:0004533	90.45	gold quality
right testis	UBERON:0004534	89.66	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.60	gold quality
mucosa of paranasal sinus	UBERON:0005030	89.05	gold quality
testis	UBERON:0000473	88.65	gold quality
endothelial cell	CL:0000115	86.56	gold quality
tendon of biceps brachii	UBERON:0008188	86.42	gold quality
epithelium of nasopharynx	UBERON:0001951	85.78	gold quality
fallopian tube	UBERON:0003889	85.39	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.84	gold quality
nasal cavity epithelium	UBERON:0005384	77.84	silver quality
adenohypophysis	UBERON:0002196	76.57	gold quality
pituitary gland	UBERON:0000007	75.16	gold quality
ventricular zone	UBERON:0003053	74.94	gold quality
buccal mucosa cell	CL:0002336	74.76	silver quality
hypothalamus	UBERON:0001898	74.46	gold quality
tendon	UBERON:0000043	74.43	gold quality
caput epididymis	UBERON:0004358	72.85	gold quality
medial globus pallidus	UBERON:0002477	72.49	gold quality
caudate nucleus	UBERON:0001873	71.93	gold quality
islet of Langerhans	UBERON:0000006	71.84	gold quality
nasal cavity mucosa	UBERON:0001826	71.73	gold quality
nucleus accumbens	UBERON:0001882	71.61	gold quality
cortical plate	UBERON:0005343	70.99	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting ODAD4, 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-4668-3P	100.00	68.74	2635
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-605-5P	98.79	68.24	1161
HSA-MIR-6072	98.00	66.47	804
HSA-MIR-337-3P	97.90	69.37	1052

Literature-anchored findings (GeneRIF, showing 3)

• report of TTC25 as a new member of the outer dynein arms docking machinery in humans and mice (PMID:27486780)
• TTC25 variants are associated with quantitative autistic trait in patients with autism spectrum disorder. Variants in TTC25 may also be relevant for broader ASD phenotype in the general population. (PMID:28513607)
• Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries. (PMID:36140829)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	odad4	ENSDARG00000058140
mus_musculus	Odad4	ENSMUSG00000006784
rattus_norvegicus	Odad4	ENSRNOG00000017473
drosophila_melanogaster	CG13502	FBGN0034692

Protein

Protein identifiers

Outer dynein arm-docking complex subunit 4 — Q96NG3 (reviewed: Q96NG3)

Alternative names: Tetratricopeptide repeat protein 25

All UniProt accessions (4): A0A087WTJ8, A0A087WVI5, A0A087X2G9, Q96NG3

UniProt curated annotations — full annotation on UniProt →

Function. Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule. Plays an essential role for the assembly of ODA-DC and for the docking of ODA in ciliary axoneme.

Subunit / interactions. Component of the outer dynein arm-docking complex along with ODAD1, ODAD2 and ODAD3. Interacts with ODAD1; this interaction may facilitate the recruitment and/or attachment of outer dynein arm docking complex proteins, including ODAD1, ODAD3 and ODAD2, to ciliary axonemes. Interacts with components of the IFT complex A, including IFT140, TTC21B/IFT139 and WDR19/IFT144, and the IFT complex B, including IFT46, IFT52 and IFT57. Interacts with CFAP53.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme.

Tissue specificity. Expressed in the nasal mucosa (at protein level).

Disease relevance. Ciliary dyskinesia, primary, 35 (CILD35) [MIM:617092] 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. CILD35 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96NG3-1	1	yes
Q96NG3-2	2

RefSeq proteins (2): NP_001337248, NP_113609* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR040111	ODAD4	Family

Pfam: PF13181

UniProt features (20 total): repeat 8, compositionally biased region 4, splice variant 2, sequence variant 2, sequence conflict 2, chain 1, region of interest 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-Q96NG3-F1	72.05	0.45

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (9): cilium movement (GO:0003341), brain development (GO:0007420), heart development (GO:0007507), lung development (GO:0030324), outer dynein arm assembly (GO:0036158), epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287), cerebrospinal fluid circulation (GO:0090660), mucociliary clearance (GO:0120197), protein localization to motile cilium (GO:0120229)

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

GO Cellular Component (9): extracellular region (GO:0005576), cytoplasm (GO:0005737), axoneme (GO:0005930), 9+0 motile cilium (GO:0097728), 9+2 motile cilium (GO:0097729), outer dynein arm docking complex (GO:0120228), 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	4
animal organ development	3
epithelial cilium movement involved in extracellular fluid movement	3
motile cilium	2
inner dynein arm	2
outer dynein arm	2
axonemal doublet microtubule	2
microtubule-based movement	1
central nervous system development	1
head development	1
circulatory system development	1
respiratory tube development	1
respiratory system development	1
axonemal dynein complex assembly	1
determination of left/right symmetry	1
nervous system process	1
respiratory system process	1
protein localization to cilium	1
binding	1
intracellular anatomical structure	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
radial spoke	1
axonemal central pair	1
axoneme	1
protein-containing complex	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

1852 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ODAD4	ODAD3	A5D8V7	896
ODAD4	ODAD2	Q5T2S8	886
ODAD4	ODAD1	Q96M63	873
ODAD4	DNAI1	Q9UI46	709
ODAD4	DNAAF4	Q8WXU2	698
ODAD4	DRC7	Q8IY82	698
ODAD4	DNAI2	Q9GZS0	636
ODAD4	DNAAF6	Q9NQM4	620
ODAD4	LRRC56	Q8IYG6	616
ODAD4	DNAH5	Q8TE73	609
ODAD4	DNAAF19	Q8IW40	606
ODAD4	DNAAF5	Q86Y56	594
ODAD4	CCDC63	Q8NA47	592
ODAD4	DNALI1	O14645	590
ODAD4	DNAH11	Q96DT5	583

IntAct

32 interactions, top by confidence:

A	B	Type	Score
MEOX2	ODAD4	psi-mi:“MI:0915”(physical association)	0.560
NECAB2	ODAD4	psi-mi:“MI:0915”(physical association)	0.560
ODAD4	MYOG	psi-mi:“MI:0915”(physical association)	0.560
ODAD4	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
ODAD4	MKRN3	psi-mi:“MI:0915”(physical association)	0.560
CCDC85B	ODAD4	psi-mi:“MI:0915”(physical association)	0.560
KRT40	ODAD4	psi-mi:“MI:0915”(physical association)	0.560
CEP70	ODAD4	psi-mi:“MI:0915”(physical association)	0.560
ODAD4	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
MYOG	ODAD4	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	ODAD4	psi-mi:“MI:0915”(physical association)	0.560
MKRN3	ODAD4	psi-mi:“MI:0915”(physical association)	0.560
ODAD4	CCDC85B	psi-mi:“MI:0915”(physical association)	0.560
ODAD4	CEP70	psi-mi:“MI:0915”(physical association)	0.560
ODAD4	KRT40	psi-mi:“MI:0915”(physical association)	0.560
ODAD4	NECAB2	psi-mi:“MI:0915”(physical association)	0.560
ODAD4	GNPAT	psi-mi:“MI:0914”(association)	0.530
TMEM214	ODAD4	psi-mi:“MI:0915”(physical association)	0.400
ODAD4	NCAPH2	psi-mi:“MI:0915”(physical association)	0.370
MDFI	ODAD4	psi-mi:“MI:0915”(physical association)	0.370
COL10A1	CRTAP	psi-mi:“MI:0914”(association)	0.350

BioGRID (39): TTC25 (Two-hybrid), TTC25 (Two-hybrid), TTC25 (Two-hybrid), TTC25 (Two-hybrid), TTC25 (Two-hybrid), TTC25 (Two-hybrid), TTC25 (Two-hybrid), KRT40 (Two-hybrid), TTC25 (Two-hybrid), TTC25 (Two-hybrid), NEK1 (Affinity Capture-MS), C21orf2 (Affinity Capture-MS), GNPAT (Affinity Capture-MS), TTLL5 (Affinity Capture-MS), YME1L1 (Affinity Capture-MS)

ESM2 similar proteins: A0JMA8, A1A5P5, A2A6Q5, A6QNM3, A7Z061, E7F187, E9Q6P5, F7BJB9, O13046, O76094, P09798, P10505, P17885, P30260, P33731, P38042, P41889, Q05B30, Q06AN9, Q07617, Q13099, Q13416, Q32NR4, Q32NU8, Q3UMY5, Q4R6M4, Q4V8A2, Q5R629, Q5RE52, Q5TYV4, Q5U245, Q5ZKQ3, Q61371, Q6NU95, Q6PA97, Q6XV80, Q7Z3E5, Q7ZUV2, Q86TV6, Q8BGB2

Diamond homologs: A5PK42, Q32NU8, Q5WA76, Q7ZU45, Q96NG3, Q9D4B2, O35814, O54981, P31948, Q3ZBZ8, Q4R8N7, Q60864, Q8VWG7, Q43468

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CFAP53	“up-regulates activity”	ODAD4	binding
ODAD4	“up-regulates activity”	Axonemal_Dynein	binding
ODAD4	up-regulates	Cilium_movement

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	5
Uncertain significance	52
Likely benign	10
Benign	8

Top pathogenic / likely-pathogenic (12)

Variant ID	HGVS	Classification
1065353	NM_031421.5(ODAD4):c.1979del (p.Thr660fs)	Pathogenic
254127	NM_031421.5(ODAD4):c.114+1G>T	Pathogenic
254128	NM_031421.5(ODAD4):c.425_426insT (p.Lys142fs)	Pathogenic
2631366	NM_031421.5(ODAD4):c.459+1G>A	Pathogenic
3893221	NM_031421.5(ODAD4):c.716G>A (p.Trp239Ter)	Pathogenic
4292842	NM_031421.5(ODAD4):c.650_653dup (p.Leu219fs)	Pathogenic
869383	NM_031421.5(ODAD4):c.245del (p.Lys82fs)	Pathogenic
1325249	NM_031421.5(ODAD4):c.316C>T (p.Arg106Ter)	Likely pathogenic
2631558	NM_031421.5(ODAD4):c.397+1G>A	Likely pathogenic
2671845	NM_031421.5(ODAD4):c.704dup (p.His235fs)	Likely pathogenic
2690771	NM_031421.5(ODAD4):c.1630G>T (p.Asp544Tyr)	Likely pathogenic
4849438	NM_031421.5(ODAD4):c.1528+1del	Likely pathogenic

SpliceAI

2027 predictions. Top by Δscore:

Variant	Effect	Δscore
17:41930833:GCAAC:G	donor_gain	1.0000
17:41930834:CAACG:C	donor_loss	1.0000
17:41930836:AC:A	donor_gain	1.0000
17:41930836:ACGT:A	donor_loss	1.0000
17:41930837:CG:C	donor_loss	1.0000
17:41930838:G:GA	donor_loss	1.0000
17:41930838:G:GG	donor_gain	1.0000
17:41930839:T:A	donor_loss	1.0000
17:41935344:G:GG	donor_gain	1.0000
17:41935597:AGGG:A	acceptor_gain	1.0000
17:41935598:GGGG:G	acceptor_gain	1.0000
17:41935725:G:GT	donor_gain	1.0000
17:41935744:TGGG:T	donor_gain	1.0000
17:41935745:GGGAA:G	donor_gain	1.0000
17:41935746:GGAA:G	donor_gain	1.0000
17:41935746:GGAAG:G	donor_gain	1.0000
17:41935747:G:T	donor_gain	1.0000
17:41935747:GAA:G	donor_gain	1.0000
17:41935747:GAAG:G	donor_gain	1.0000
17:41935750:G:GG	donor_gain	1.0000
17:41936468:TGCA:T	acceptor_loss	1.0000
17:41936469:GCAG:G	acceptor_loss	1.0000
17:41936470:CA:C	acceptor_loss	1.0000
17:41936471:A:AG	acceptor_gain	1.0000
17:41936472:G:A	acceptor_loss	1.0000
17:41936472:G:GC	acceptor_gain	1.0000
17:41936472:GGT:G	acceptor_gain	1.0000
17:41936472:GGTC:G	acceptor_gain	1.0000
17:41936533:AGGTA:A	donor_loss	1.0000
17:41936535:G:GA	donor_loss	1.0000

AlphaMissense

4428 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:41949218:G:A	G404D	1.000
17:41949343:G:C	A446P	1.000
17:41939093:G:T	G327W	0.999
17:41939094:G:A	G327E	0.999
17:41945177:G:A	G367D	0.999
17:41949154:T:A	W383R	0.999
17:41949154:T:C	W383R	0.999
17:41949203:T:C	L399P	0.999
17:41949217:G:C	G404R	0.999
17:41949221:G:C	R405P	0.999
17:41949266:G:A	G420D	0.999
17:41949310:T:A	W435R	0.999
17:41949310:T:C	W435R	0.999
17:41949312:G:C	W435C	0.999
17:41949312:G:T	W435C	0.999
17:41949317:T:C	L437P	0.999
17:41949322:G:C	A439P	0.999
17:41949332:T:C	L442P	0.999
17:41949338:C:A	A444D	0.999
17:41955252:T:C	F460L	0.999
17:41955254:T:A	F460L	0.999
17:41955254:T:G	F460L	0.999
17:41955261:G:C	A463P	0.999
17:41955273:G:C	A467P	0.999
17:41939003:G:C	A297P	0.998
17:41939094:G:T	G327V	0.998
17:41945165:T:C	L363P	0.998
17:41945176:G:C	G367R	0.998
17:41945189:C:A	A371D	0.998
17:41945212:G:C	A379P	0.998

dbSNP variants (sampled 300 via entrez): RS1000039535 (17:41957889 A>C,G), RS1000054335 (17:41952300 G>A), RS1000387628 (17:41945241 C>A,T), RS1000598904 (17:41956206 G>A), RS1000665428 (17:41957547 A>T), RS1001591953 (17:41935415 G>T), RS1001700917 (17:41942233 G>A,T), RS1001861593 (17:41933809 G>A), RS1001927760 (17:41935760 A>T), RS1002037608 (17:41940852 C>T), RS1002149034 (17:41940426 G>A), RS1002174220 (17:41954000 T>C), RS1002331189 (17:41946604 C>T), RS1002393514 (17:41953701 T>G), RS1002624500 (17:41946951 C>A,T)

Disease associations

OMIM: gene MIM:617095 | disease phenotypes: MIM:617092, MIM:244400

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 35	Strong	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 35	Definitive	AR

Mondo (2): primary ciliary dyskinesia 35 (MONDO:0014910), primary ciliary dyskinesia (MONDO:0016575)

Orphanet (2): Primary ciliary dyskinesia (Orphanet:244), Situs ambiguus (Orphanet:157769)

HPO phenotypes

52 total (30 of 52 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: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
HP:0006532	Recurrent pneumonia

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004628_20	Immature fraction of reticulocytes	4.000000e-16

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007986	reticulocyte count

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

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	decreases expression, increases abundance, increases expression	2
Tunicamycin	increases expression	2
FR900359	decreases phosphorylation	1
sodium arsenate	decreases expression, increases abundance	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
ferrous chloride	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Sunitinib	increases expression	1
Glyphosate	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
2,4-Dichlorophenoxyacetic Acid	decreases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	increases expression	1
Acrylamide	increases 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)