RSPH9

Summary

RSPH9 (radial spoke head component 9, HGNC:21057) is a protein-coding gene on chromosome 6p21.1, encoding Radial spoke head protein 9 homolog (Q9H1X1). Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia.

This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 221421 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 12 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 5
• Clinical variants (ClinVar): 238 total — 13 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 58
• MANE Select transcript: NM_152732

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21057
Approved symbol	RSPH9
Name	radial spoke head component 9
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ30845, CILD12
Ensembl gene	ENSG00000172426
Ensembl biotype	protein_coding
OMIM	612648
Entrez	221421

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000372163, ENST00000372165, ENST00000890744, ENST00000890745, ENST00000890746, ENST00000928837

RefSeq mRNA: 5 — MANE Select: NM_152732 NM_001193341, NM_001424119, NM_001424120, NM_001424121, NM_152732

CCDS: CCDS4905, CCDS55005

Canonical transcript exons

ENST00000372163 — 5 exons

Exon	Start	End
ENSE00001141052	43656577	43656723
ENSE00001141060	43655562	43655691
ENSE00001141066	43650375	43650540
ENSE00003499346	43670789	43672600
ENSE00003849842	43645036	43645325

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 98.12.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5981 / max 115.0267, expressed in 627 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67922	0.8274	313
67921	0.7708	424

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	98.12	gold quality
bronchus	UBERON:0002185	96.94	gold quality
mucosa of paranasal sinus	UBERON:0005030	88.37	gold quality
right uterine tube	UBERON:0001302	88.36	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.53	gold quality
nasal cavity epithelium	UBERON:0005384	81.68	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.78	gold quality
left testis	UBERON:0004533	80.36	gold quality
right testis	UBERON:0004534	79.61	gold quality
testis	UBERON:0000473	78.83	gold quality
epithelium of nasopharynx	UBERON:0001951	78.45	gold quality
adult organism	UBERON:0007023	78.33	gold quality
oviduct epithelium	UBERON:0004804	78.06	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.85	gold quality
nasal cavity mucosa	UBERON:0001826	75.73	gold quality
fallopian tube	UBERON:0003889	74.58	gold quality
cortical plate	UBERON:0005343	74.12	gold quality
secondary oocyte	CL:0000655	70.94	silver quality
trachea	UBERON:0003126	70.85	gold quality
ventricular zone	UBERON:0003053	70.65	gold quality
oocyte	CL:0000023	70.31	gold quality
sperm	CL:0000019	70.30	silver quality
adenohypophysis	UBERON:0002196	67.94	gold quality
pituitary gland	UBERON:0000007	67.79	gold quality
right lung	UBERON:0002167	65.29	gold quality
ganglionic eminence	UBERON:0004023	64.68	gold quality
islet of Langerhans	UBERON:0000006	64.40	gold quality
Brodmann (1909) area 46	UBERON:0006483	63.68	silver quality
body of uterus	UBERON:0009853	63.17	gold quality
hypothalamus	UBERON:0001898	62.96	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	63.18
E-HCAD-1	yes	27.43
E-MTAB-9388	yes	6.75
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• Study focused on an extended 5 generation Bedouin family, analysed mutation segregation, and calculated the age of the mutated allele in 2 families based on haplotypes and haplotype+microsatellite in an attempt to define the source of the mutation. (PMID:20070851)
• Mutations in RSPH9 leads to ultrastructural cilia defects and ciliary dyskinesia. (PMID:22448264)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rsph9	ENSDARG00000017355
mus_musculus	Rsph9	ENSMUSG00000023966
rattus_norvegicus	Rsph9	ENSRNOG00000019474
drosophila_melanogaster	Rsph9	FBGN0051803

Protein

Protein identifiers

Radial spoke head protein 9 homolog — Q9H1X1 (reviewed: Q9H1X1)

All UniProt accessions (1): Q9H1X1

UniProt curated annotations — full annotation on UniProt →

Function. Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia. Essential for both the radial spoke head assembly and the central pair microtubule stability in ependymal motile cilia. Required for motility of olfactory and neural cilia and for the structural integrity of ciliary axonemes in both 9+0 and 9+2 motile cilia.

Subunit / interactions. Component of the axonemal radial spoke 1 (RS1) and 2 (RS2) complexes, at least composed of spoke head proteins RSPH1, RSPH3, RSPH9 and the cilia-specific component RSPH4A or sperm-specific component RSPH6A, spoke stalk proteins RSPH14, DNAJB13, DYDC1, ROPN1L and NME5, and the RS1 complex-specific anchor protein IQUB. Interacts with IQUB. Interacts with RSPH3B. Interacts with RSPH4A. Interacts with RSPH6A. Interacts with CFAP61. Interacts with LRRC23. Interacts with DNAH12.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Flagellum axoneme. Cell projection. Kinocilium.

Disease relevance. Ciliary dyskinesia, primary, 12 (CILD12) [MIM:612650] 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. 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.

Similarity. Belongs to the flagellar radial spoke RSP9 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H1X1-1	1	yes
Q9H1X1-2	2

RefSeq proteins (5): NP_001180270, NP_001411048, NP_001411049, NP_001411050, NP_689945* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR055316	RSP9	Family

UniProt features (5 total): splice variant 2, sequence variant 2, chain 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-Q9H1X1-F1	92.03	0.80

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 191 (showing top): SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOCC_NEURON_PROJECTION, GOBP_MOTILE_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, SOX5_01, GOBP_AXONEME_ASSEMBLY, GOCC_CYTOPLASMIC_REGION, LEIN_CHOROID_PLEXUS_MARKERS, GOCC_MOTILE_CILIUM, GOCC_STEREOCILIUM_BUNDLE

GO Biological Process (8): cilium movement (GO:0003341), axoneme assembly (GO:0035082), motile cilium assembly (GO:0044458), cilium movement involved in cell motility (GO:0060294), radial spoke assembly (GO:0062177), axonemal central apparatus assembly (GO:1904158), cell projection organization (GO:0030030), cilium assembly (GO:0060271)

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

GO Cellular Component (13): radial spoke head (GO:0001535), axoneme (GO:0005930), motile cilium (GO:0031514), sperm flagellum (GO:0036126), kinocilium (GO:0060091), 9+2 motile cilium (GO:0097729), radial spoke head 1 (GO:0120336), radial spoke head 3 (GO:0120338), radial spoke (GO:0001534), 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
axoneme assembly	3
radial spoke	3
cellular anatomical structure	3
cellular component assembly	2
cilium assembly	2
protein-containing complex	2
radial spoke head	2
microtubule-based movement	1
microtubule bundle formation	1
cilium movement	1
cell motility	1
cilium-dependent cell motility	1
protein-containing complex assembly	1
cellular component organization	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
binding	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
cilium	1
9+2 motile cilium	1
stereocilium bundle	1
neuron projection	1
organelle	1
9+2 non-motile cilium	1
motile cilium	1
inner dynein arm	1
outer dynein arm	1
axonemal central pair	1
axonemal doublet microtubule	1
radial spoke 1	1
radial spoke 3	1
axoneme	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1178 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RSPH9	RSPH4A	Q5TD94	995
RSPH9	DNAI2	Q9GZS0	952
RSPH9	RSPH6A	Q9H0K4	950
RSPH9	DNAI1	Q9UI46	949
RSPH9	DNAH5	Q8TE73	933
RSPH9	DNAAF2	Q9NVR5	926
RSPH9	DNAAF1	Q8NEP3	925
RSPH9	DNAH11	Q96DT5	918
RSPH9	RSPH1	Q8WYR4	907
RSPH9	NME8	Q8N427	897
RSPH9	CCDC39	Q9UFE4	828
RSPH9	RSPH3	Q86UC2	810
RSPH9	CCDC40	Q4G0X9	796
RSPH9	DRC2	Q8IXS2	790
RSPH9	DNAAF5	Q86Y56	789

IntAct

14 interactions, top by confidence:

A	B	Type	Score
RSPH9	LONP2	psi-mi:“MI:0915”(physical association)	0.740
RSPH9	PNMA1	psi-mi:“MI:0915”(physical association)	0.560
HMG20A	RSPH9	psi-mi:“MI:0915”(physical association)	0.560
RSPH9	EIF3H	psi-mi:“MI:0914”(association)	0.530
SYNGAP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
KLK10	EDC3	psi-mi:“MI:0914”(association)	0.530
RSPH9	STOM	psi-mi:“MI:0914”(association)	0.350
RSPH9	LONP2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (38): RSPH9 (Two-hybrid), RSPH9 (Two-hybrid), ZC3H4 (Affinity Capture-MS), BCR (Affinity Capture-MS), SAFB2 (Affinity Capture-MS), MOCS3 (Affinity Capture-MS), EIF3A (Affinity Capture-MS), EIF3C (Affinity Capture-MS), EIF3H (Affinity Capture-MS), LONP2 (Affinity Capture-MS), EIF3B (Affinity Capture-MS), EIF3E (Affinity Capture-MS), PPP1R10 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), LONP2 (Affinity Capture-MS)

ESM2 similar proteins: A0KK58, A2BTD8, A2BYT7, A2CC26, A3PF48, A4IK89, A4SMV9, A4WBF9, A5GC79, A5VZZ9, A6U7W5, A8G763, B0JY52, B1KDK2, B1WYX9, B1XK97, B2ITQ6, B3PKG9, B7JYJ3, B7KEE5, C0ZAQ1, C5D512, O66958, O67549, P16993, P52132, P74069, P77206, P84565, Q04AV5, Q0AYS6, Q110A6, Q2JIJ7, Q2JVL1, Q2KIU7, Q3AMK3, Q3AMM9, Q3AWA8, Q3MFC2, Q5JDC5

Diamond homologs: Q2KIU7, Q5TYW6, Q6DFN5, Q9D9V4, Q9H1X1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	13
Likely pathogenic	7
Uncertain significance	101
Likely benign	74
Benign	24

Top pathogenic / likely-pathogenic (20)

Variant ID	HGVS	Classification
1074211	NM_152732.5(RSPH9):c.574del (p.Glu192fs)	Pathogenic
1297692	NM_152732.5(RSPH9):c.2T>C (p.Met1Thr)	Pathogenic
1392419	NM_152732.5(RSPH9):c.1A>G (p.Met1Val)	Pathogenic
2887444	NM_152732.5(RSPH9):c.1A>T (p.Met1Leu)	Pathogenic
3393107	NM_152732.5(RSPH9):c.800_*71del (p.Glu267fs)	Pathogenic
379253	NM_152732.5(RSPH9):c.333T>G (p.Tyr111Ter)	Pathogenic
4728700	NM_152732.5(RSPH9):c.245G>A (p.Trp82Ter)	Pathogenic
502312	NM_152732.5(RSPH9):c.466C>T (p.Arg156Ter)	Pathogenic
525272	NM_152732.5(RSPH9):c.117C>A (p.Tyr39Ter)	Pathogenic
581601	NM_152732.5(RSPH9):c.283C>T (p.Gln95Ter)	Pathogenic
639923	NM_152732.5(RSPH9):c.200del (p.Gln67fs)	Pathogenic
648306	NM_152732.5(RSPH9):c.799G>T (p.Glu267Ter)	Pathogenic
66995	NM_152732.5(RSPH9):c.52C>T (p.Gln18Ter)	Pathogenic
1344608	NM_152732.5(RSPH9):c.244del (p.Trp82fs)	Likely pathogenic
2182143	NM_152732.5(RSPH9):c.393+2del	Likely pathogenic
3382264	NM_152732.5(RSPH9):c.19del (p.Leu7fs)	Likely pathogenic
4280097	NM_152732.5(RSPH9):c.237C>A (p.Cys79Ter)	Likely pathogenic
454992	NM_152732.5(RSPH9):c.228-6T>A	Likely pathogenic
935977	NM_152732.5(RSPH9):c.393+1G>A	Likely pathogenic
937838	NM_152732.5(RSPH9):c.523+1G>C	Likely pathogenic

SpliceAI

877 predictions. Top by Δscore:

Variant	Effect	Δscore
6:43645282:GGCC:G	donor_gain	1.0000
6:43645325:GGTG:G	donor_loss	1.0000
6:43645326:G:A	donor_loss	1.0000
6:43645326:G:GG	donor_gain	1.0000
6:43655688:GAAG:G	donor_gain	1.0000
6:43655689:AAG:A	donor_gain	1.0000
6:43655690:AG:A	donor_gain	1.0000
6:43655690:AGGTG:A	donor_loss	1.0000
6:43655691:GG:G	donor_gain	1.0000
6:43655691:GGT:G	donor_loss	1.0000
6:43655692:G:C	donor_loss	1.0000
6:43655692:G:GG	donor_gain	1.0000
6:43656720:AAAGG:A	donor_loss	1.0000
6:43656724:GT:G	donor_loss	1.0000
6:43656725:T:A	donor_loss	1.0000
6:43671905:ACCTG:A	acceptor_loss	1.0000
6:43671906:CCTGT:C	acceptor_loss	1.0000
6:43671907:CTGT:C	acceptor_loss	1.0000
6:43671908:T:A	acceptor_loss	1.0000
6:43645321:TATAG:T	donor_gain	0.9900
6:43645323:TAG:T	donor_gain	0.9900
6:43655557:CTCA:C	acceptor_loss	0.9900
6:43655559:CAGGT:C	acceptor_loss	0.9900
6:43655560:AGG:A	acceptor_loss	0.9900
6:43655561:GGTCC:G	acceptor_gain	0.9900
6:43655687:TGAAG:T	donor_gain	0.9900
6:43655688:GAAGG:G	donor_gain	0.9900
6:43656624:A:AG	acceptor_gain	0.9900
6:43656624:AG:A	acceptor_gain	0.9900
6:43656625:G:GG	acceptor_gain	0.9900

AlphaMissense

1803 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:43650391:T:A	W82R	0.999
6:43650391:T:C	W82R	0.999
6:43670794:T:A	W226R	0.998
6:43670794:T:C	W226R	0.998
6:43670839:A:C	S241R	0.998
6:43670841:C:A	S241R	0.998
6:43670841:C:G	S241R	0.998
6:43645240:G:C	G48R	0.997
6:43650393:G:C	W82C	0.997
6:43650393:G:T	W82C	0.997
6:43655584:G:C	R139P	0.997
6:43670848:T:A	W244R	0.997
6:43670848:T:C	W244R	0.997
6:43645181:T:C	L28P	0.996
6:43650460:G:T	G105W	0.996
6:43645237:T:A	W47R	0.995
6:43645237:T:C	W47R	0.995
6:43645241:G:A	G48D	0.995
6:43645274:T:A	I59N	0.995
6:43650461:G:A	G105E	0.995
6:43670938:T:C	F274L	0.995
6:43670940:C:A	F274L	0.995
6:43670940:C:G	F274L	0.995
6:43645252:G:C	G52R	0.994
6:43645324:A:C	S76R	0.994
6:43650375:C:A	S76R	0.994
6:43650375:C:G	S76R	0.994
6:43650455:T:C	F103S	0.994
6:43650460:G:A	G105R	0.994
6:43650460:G:C	G105R	0.994

dbSNP variants (sampled 300 via entrez): RS1000142332 (6:43663083 C>A,T), RS1000151931 (6:43653795 T>A), RS1000307098 (6:43644343 T>C,G), RS1000394741 (6:43650005 C>T), RS1000415902 (6:43665818 T>G), RS1000465299 (6:43665472 C>T), RS1000472680 (6:43661829 C>T), RS1000607937 (6:43661548 C>T), RS1000628468 (6:43672343 C>A), RS1000694900 (6:43671334 T>C), RS1000729941 (6:43648673 G>A,C), RS1000758633 (6:43655353 C>A,G), RS1000822923 (6:43656512 A>G), RS1000902030 (6:43667290 A>G), RS1000955548 (6:43672491 C>T)

Disease associations

OMIM: gene MIM:612648 | disease phenotypes: MIM:244400, MIM:612650, MIM:608033, MIM:233650

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 12	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 12	Definitive	AR

Mondo (4): primary ciliary dyskinesia (MONDO:0016575), primary ciliary dyskinesia 12 (MONDO:0012979), familial acute necrotizing encephalopathy (MONDO:0011953), combined immunodeficiency with skin granulomas (MONDO:0009306)

Orphanet (3): Primary ciliary dyskinesia (Orphanet:244), Familial acute necrotizing encephalopathy (Orphanet:88619), Combined immunodeficiency with granulomatosis (Orphanet:157949)

HPO phenotypes

58 total (30 of 58 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:0003546	Exercise intolerance
HP:0004322	Short stature
HP:0005301	Persistent left superior vena cava

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST005576_14	Intracranial aneurysm	2.000000e-06
GCST005956_58	Waist-to-hip ratio adjusted for BMI	7.000000e-26
GCST005957_1	Waist-to-hip ratio adjusted for BMI (age <50)	2.000000e-14
GCST005958_2	Waist-to-hip ratio adjusted for BMI (age >50)	2.000000e-19
GCST005962_2	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	3.000000e-31

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement

MeSH disease descriptors (4)

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
C567211	Ciliary Dyskinesia, Primary, 12 (supp.)
C567115	Combined Cellular And Humoral Immune Defects With Granulomas (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
mercuric bromide	decreases expression, affects cotreatment	2
Air Pollutants	increases abundance, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Valproic Acid	affects expression, increases methylation	2
aristolochic acid I	increases expression	1
methylmercuric chloride	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Vorinostat	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Lead	affects expression	1
Silicon Dioxide	decreases expression	1
Smoke	increases abundance, increases expression	1
Thimerosal	decreases expression	1
Particulate Matter	increases abundance, 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)