RSPH3

Summary

RSPH3 (radial spoke head 3, HGNC:21054) is a protein-coding gene on chromosome 6q25.3, encoding Radial spoke head protein 3 homolog (Q86UC2). Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia.

The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 83861 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 32 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 7
• Clinical variants (ClinVar): 357 total — 24 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 56
• MANE Select transcript: NM_031924

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21054
Approved symbol	RSPH3
Name	radial spoke head 3
Location	6q25.3
Locus type	gene with protein product
Status	Approved
Aliases	dJ111C20.1, RSP3
Ensembl gene	ENSG00000130363
Ensembl biotype	protein_coding
OMIM	615876
Entrez	83861

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000367069, ENST00000449822, ENST00000607398, ENST00000884885

RefSeq mRNA: 2 — MANE Select: NM_031924 NM_001346418, NM_031924

CCDS: CCDS5260

Canonical transcript exons

ENST00000367069 — 8 exons

Exon	Start	End
ENSE00000894385	158978260	158978346
ENSE00000894386	158980774	158980936
ENSE00000894387	158982485	158982688
ENSE00000894388	158983662	158983807
ENSE00000894389	158986280	158986421
ENSE00000894390	158993839	158993926
ENSE00001443407	158972871	158977848
ENSE00001443408	158999435	159000202

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 96.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.1969 / max 108.4007, expressed in 1798 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
76433	4.2683	1567
76432	3.1740	1418
76431	1.6579	770
76430	0.9574	477
76429	0.1392	54

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	96.09	gold quality
oviduct epithelium	UBERON:0004804	95.07	gold quality
bronchus	UBERON:0002185	94.85	gold quality
tendon of biceps brachii	UBERON:0008188	94.65	gold quality
ileal mucosa	UBERON:0000331	91.35	gold quality
kidney epithelium	UBERON:0004819	91.13	gold quality
mucosa of paranasal sinus	UBERON:0005030	89.85	gold quality
jejunal mucosa	UBERON:0000399	87.33	gold quality
tendon	UBERON:0000043	86.95	gold quality
nasal cavity epithelium	UBERON:0005384	86.45	gold quality
left ventricle myocardium	UBERON:0006566	85.56	gold quality
calcaneal tendon	UBERON:0003701	84.57	gold quality
caput epididymis	UBERON:0004358	84.44	gold quality
epithelium of nasopharynx	UBERON:0001951	83.73	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	83.08	gold quality
Brodmann (1909) area 23	UBERON:0013554	82.76	gold quality
esophagus squamous epithelium	UBERON:0006920	82.39	gold quality
endothelial cell	CL:0000115	82.23	gold quality
epithelial cell of pancreas	CL:0000083	82.03	silver quality
pigmented layer of retina	UBERON:0001782	81.86	gold quality
cardiac muscle of right atrium	UBERON:0003379	80.70	silver quality
pancreatic ductal cell	CL:0002079	80.29	silver quality
corpus epididymis	UBERON:0004359	80.18	gold quality
gingival epithelium	UBERON:0001949	80.11	gold quality
nasal cavity mucosa	UBERON:0001826	80.10	gold quality
islet of Langerhans	UBERON:0000006	80.05	gold quality
gingiva	UBERON:0001828	79.97	gold quality
sperm	CL:0000019	79.32	silver quality
fallopian tube	UBERON:0003889	79.23	gold quality
lower esophagus mucosa	UBERON:0035834	79.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting RSPH3, 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-3646	100.00	73.56	5283
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-885-5P	99.59	68.59	879
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-5571-5P	99.49	66.99	1764
HSA-MIR-4687-3P	99.48	66.41	968
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-133A-5P	99.28	69.13	941
HSA-MIR-3154	98.94	66.55	1455
HSA-MIR-138-5P	98.43	70.49	1292
HSA-MIR-628-5P	98.36	67.74	844
HSA-MIR-509-3P	98.12	67.25	612
HSA-MIR-4521	97.73	67.64	684
HSA-MIR-6131	97.22	66.72	960

Literature-anchored findings (GeneRIF, showing 3)

• Radial spoke protein 3 is a mammalian protein kinase A-anchoring protein that binds ERK1/2. (PMID:19684019)
• RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. (PMID:26073779)
• Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection. (PMID:32124190)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rsph3	ENSDARG00000043470
mus_musculus	Rsph3b	ENSMUSG00000023806
mus_musculus	Rsph3a	ENSMUSG00000073471
rattus_norvegicus	Rsph3	ENSRNOG00000018762
drosophila_melanogaster	Rsph3	FBGN0052392

Protein

Protein identifiers

Radial spoke head protein 3 homolog — Q86UC2 (reviewed: Q86UC2)

Alternative names: A-kinase anchor protein RSPH3, Radial spoke head-like protein 2

All UniProt accessions (2): A0A0C4DFU3, A0A0C4DG29

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. Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in 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 phosphorylated MAPK1. Interacts with MEK1. Interacts with PKA regulatory subunits PRKAR1A and PRKAR1B. Interacts with RSPH1. Interacts with RSPH4A. Interacts with RSPH6A. Interacts with RSPH9. Interacts with LRRC23.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Flagellum axoneme.

Disease relevance. Ciliary dyskinesia, primary, 32 (CILD32) [MIM:616481] 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. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the flagellar radial spoke RSP3 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86UC2-1	1	yes
Q86UC2-2	2

RefSeq proteins (2): NP_001333347, NP_114130* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009290	Radial_spoke_3	Family

Pfam: PF06098

UniProt features (18 total): sequence variant 6, region of interest 5, coiled-coil region 2, chain 1, splice variant 1, sequence conflict 1, compositionally biased region 1, modified residue 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-Q86UC2-F1	65.67	0.25

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 286

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 221 (showing top): chr6q25, HOWLIN_PUBERTAL_MAMMARY_GLAND, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, KMCATNNWGGA_UNKNOWN, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, RIGGI_EWING_SARCOMA_PROGENITOR_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_CILIUM, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GINESTIER_BREAST_CANCER_20Q13_AMPLIFICATION_UP, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (7): radial spoke head (GO:0001535), cilium (GO:0005929), 9+2 motile cilium (GO:0097729), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
radial spoke	2
cellular anatomical structure	2
protein-containing complex	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
motile cilium	1
inner dynein arm	1
outer dynein arm	1
axonemal central pair	1
axonemal doublet microtubule	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
cilium	1

Protein interactions and networks

STRING

2813 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RSPH3	TAGAP	Q8N103	835
RSPH3	RSPH6A	Q9H0K4	833
RSPH3	RSPH9	Q9H1X1	810
RSPH3	RSPH1	Q8WYR4	794
RSPH3	RSPH4A	Q5TD94	792
RSPH3	STARD13	Q9Y3M8	784
RSPH3	RSU1	Q15404	713
RSPH3	DYNLL1	P63167	700
RSPH3	DRC1	Q96MC2	614
RSPH3	DRC2	Q8IXS2	613
RSPH3	CCDC39	Q9UFE4	610
RSPH3	DRC4	O95995	608
RSPH3	CFAP91	Q7Z4T9	601
RSPH3	ODAD1	Q96M63	590
RSPH3	DNAAF5	Q86Y56	589

IntAct

25 interactions, top by confidence:

A	B	Type	Score
RSPH3	ROPN1L	psi-mi:“MI:0915”(physical association)	0.780
ROPN1L	RSPH3	psi-mi:“MI:0915”(physical association)	0.780
RSPH3	RSPH14	psi-mi:“MI:0915”(physical association)	0.560
PRKAR1A	RSPH3	psi-mi:“MI:0915”(physical association)	0.560
RSPH3	FAM124B	psi-mi:“MI:0915”(physical association)	0.560
MLH1	RSPH3	psi-mi:“MI:0915”(physical association)	0.560
RSPH3	DPY30	psi-mi:“MI:0915”(physical association)	0.560
HSPB1	RSPH3	psi-mi:“MI:0915”(physical association)	0.370
RSPH3		psi-mi:“MI:0915”(physical association)	0.370
RSPH14	RSPH3	psi-mi:“MI:0915”(physical association)	0.000
ROPN1L	RSPH3	psi-mi:“MI:0915”(physical association)	0.000
FAM124B	RSPH3	psi-mi:“MI:0915”(physical association)	0.000
MLH1	RSPH3	psi-mi:“MI:0915”(physical association)	0.000
PRKAR1A	RSPH3	psi-mi:“MI:0915”(physical association)	0.000
DPY30	RSPH3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): RSPH3 (Two-hybrid), RSPH3 (Two-hybrid), RSPH3 (Two-hybrid), RSPH3 (Two-hybrid), RSPH3 (Two-hybrid), RSPH3 (Two-hybrid), ROPN1L (Two-hybrid), DPY30 (Two-hybrid), RSPH3 (Cross-Linking-MS (XL-MS)), APP (Reconstituted Complex)

ESM2 similar proteins: A2AHC3, A2AMT1, A5PLN7, A6NI87, A8E4N3, D3Z8E6, F1N8V3, O76081, P03327, P54257, P79348, Q02435, Q12934, Q3KP66, Q3UFY4, Q3UHU5, Q49A92, Q4LEZ3, Q5R7P6, Q5T5Y3, Q68DK7, Q69ZH9, Q6I6G8, Q6PDM1, Q6T4R5, Q76LL6, Q76N89, Q7T3T9, Q7TN12, Q80VC9, Q86UC2, Q8C0X0, Q8CCG1, Q8K3M5, Q8N5Z5, Q8N9V6, Q8NC06, Q8WUQ7, Q8WWI1, Q9BTV7

Diamond homologs: A8E4N3, P12759, Q3UFY4, Q86UC2, Q9DA80

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
MAPK1	“up-regulates activity”	RSPH3	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	24
Likely pathogenic	5
Uncertain significance	156
Likely benign	124
Benign	31

Top pathogenic / likely-pathogenic (29)

Variant ID	HGVS	Classification
1031472	NM_031924.8(RSPH3):c.-143del	Pathogenic
1366054	NM_031924.8(RSPH3):c.-95G>A	Pathogenic
1375407	NC_000006.11:g.(?159420447)(159421008_?)del	Pathogenic
1420769	NM_031924.8(RSPH3):c.-417A>T	Pathogenic
1455833	NM_031924.8(RSPH3):c.-220del	Pathogenic
1456876	NC_000006.11:g.(?159414851)(159414978_?)del	Pathogenic
1457344	NM_031924.8(RSPH3):c.-302_-301del	Pathogenic
1514354	NM_031924.8(RSPH3):c.859+1G>A	Pathogenic
1937576	NM_031924.8(RSPH3):c.-292del	Pathogenic
204498	NM_031924.8(RSPH3):c.190C>T (p.Gln64Ter)	Pathogenic
204500	NM_031924.8(RSPH3):c.766C>T (p.Arg256Ter)	Pathogenic
204501	NM_031924.8(RSPH3):c.894_897del (p.Asn298fs)	Pathogenic
204502	NM_031924.8(RSPH3):c.679C>T (p.Arg227Ter)	Pathogenic
209010	NM_031924.8(RSPH3):c.205-2A>G	Pathogenic
2804278	NM_031924.8(RSPH3):c.-88_-86del	Pathogenic
2843362	NM_031924.8(RSPH3):c.-5del	Pathogenic
2895815	NM_031924.8(RSPH3):c.-273G>T	Pathogenic
3253653	NM_031924.8(RSPH3):c.454dup (p.Thr152fs)	Pathogenic
3651133	NM_031924.8(RSPH3):c.330del (p.His110fs)	Pathogenic
3705611	NM_031924.8(RSPH3):c.-261_-260del	Pathogenic
570047	NM_031924.8(RSPH3):c.685C>T (p.Arg229Ter)	Pathogenic
650363	NM_031924.8(RSPH3):c.169C>T (p.Arg57Ter)	Pathogenic
665656	NC_000006.12:g.(?158980754)(158986441_?)del	Pathogenic
946339	NM_031924.8(RSPH3):c.823_824del (p.Arg275fs)	Pathogenic
1526208	NM_031924.8(RSPH3):c.346+1G>T	Likely pathogenic
2671830	NM_031924.8(RSPH3):c.280C>T (p.Gln94Ter)	Likely pathogenic
3055017	NM_031924.8(RSPH3):c.-85dup	Likely pathogenic
4748136	NM_031924.8(RSPH3):c.346+1del	Likely pathogenic
497764	NM_031924.8(RSPH3):c.213del (p.Pro72fs)	Likely pathogenic

SpliceAI

1065 predictions. Top by Δscore:

Variant	Effect	Δscore
6:158977849:C:CC	acceptor_gain	1.0000
6:158978253:AACTT:A	donor_loss	1.0000
6:158978254:ACTT:A	donor_loss	1.0000
6:158978255:CTT:C	donor_loss	1.0000
6:158978256:TTACT:T	donor_loss	1.0000
6:158978257:TACTG:T	donor_loss	1.0000
6:158978258:A:AC	donor_gain	1.0000
6:158978258:A:T	donor_loss	1.0000
6:158978259:C:CA	donor_gain	1.0000
6:158978259:CT:C	donor_gain	1.0000
6:158978259:CTGT:C	donor_gain	1.0000
6:158978344:TAT:T	acceptor_gain	1.0000
6:158978345:AT:A	acceptor_gain	1.0000
6:158978345:ATC:A	acceptor_loss	1.0000
6:158978346:TCTG:T	acceptor_loss	1.0000
6:158978347:C:CA	acceptor_loss	1.0000
6:158978347:C:CC	acceptor_gain	1.0000
6:158980770:AAAC:A	donor_loss	1.0000
6:158980771:AACCT:A	donor_loss	1.0000
6:158980773:C:CG	donor_loss	1.0000
6:158980773:CCT:C	donor_gain	1.0000
6:158980807:C:A	donor_gain	1.0000
6:158980932:CGTTC:C	acceptor_gain	1.0000
6:158980935:TC:T	acceptor_gain	1.0000
6:158980936:CC:C	acceptor_gain	1.0000
6:158980937:CTG:C	acceptor_loss	1.0000
6:158982481:ATACT:A	donor_loss	1.0000
6:158982482:TACT:T	donor_loss	1.0000
6:158982483:A:AC	donor_gain	1.0000
6:158982484:C:CA	donor_loss	1.0000

AlphaMissense

2725 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:158980929:C:G	R377P	0.996
6:158978319:A:G	L438P	0.995
6:158982677:A:C	F310L	0.995
6:158982677:A:T	F310L	0.995
6:158982679:A:G	F310L	0.995
6:158982622:A:G	S329P	0.994
6:158982683:A:C	F308L	0.994
6:158982683:A:T	F308L	0.994
6:158982685:A:G	F308L	0.994
6:158978330:A:C	F434L	0.993
6:158978330:A:T	F434L	0.993
6:158978332:A:G	F434L	0.993
6:158983713:A:C	F289L	0.993
6:158983713:A:T	F289L	0.993
6:158983715:A:G	F289L	0.993
6:158980812:A:G	L416P	0.992
6:158980836:A:G	L408P	0.992
6:158980870:C:G	A397P	0.992
6:158982618:A:G	L330P	0.992
6:158982501:C:G	R369P	0.991
6:158983798:A:G	L261P	0.988
6:158993881:C:A	R196S	0.988
6:158993881:C:G	R196S	0.988
6:158980824:A:T	V412D	0.987
6:158980932:C:G	R376P	0.987
6:158982624:T:G	Q328P	0.987
6:158983675:A:T	I302K	0.987
6:158982678:A:G	F310S	0.986
6:158986302:T:A	R250S	0.985
6:158986302:T:G	R250S	0.985

dbSNP variants (sampled 300 via entrez): RS1000009075 (6:158992432 A>C), RS1000020367 (6:158975590 C>A), RS1000133380 (6:158968837 G>A), RS1000151467 (6:158996826 G>A), RS1000184634 (6:158981784 T>C), RS1000220490 (6:158998650 G>GCAC), RS1000314084 (6:158999078 C>G), RS1000518889 (6:158993109 C>G,T), RS1000629457 (6:158969104 G>T), RS1000679851 (6:158963153 A>G), RS1000718535 (6:158986864 T>A,C), RS1000766173 (6:158971622 T>C), RS1000789900 (6:158980385 C>A,T), RS1000813425 (6:158987195 C>T), RS1000886130 (6:158973967 C>T)

Disease associations

OMIM: gene MIM:615876 | disease phenotypes: MIM:616481, MIM:244400

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 32	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 32	Definitive	AR

Mondo (2): primary ciliary dyskinesia 32 (MONDO:0014657), 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:0000789	Infertility
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:0003577	Congenital onset
HP:0005301	Persistent left superior vena cava

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST002397_4	Bladder cancer (smoking interaction)	1.000000e-06
GCST003127_12	Lipoprotein (a) levels	5.000000e-11
GCST005752_54	Systemic lupus erythematosus	9.000000e-06
GCST008489_20	Celiac disease	3.000000e-08
GCST008489_21	Celiac disease	2.000000e-08
GCST009313_6	Prepulse inhibition of the startle response	3.000000e-06
GCST010291_1	Attention deficit hyperactivity disorder	2.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006925	lipoprotein A measurement
EFO:0007969	cognitive inhibition 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

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	increases expression	2
Smoke	decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
aristolochic acid I	increases expression	1
bisphenol A	increases expression	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
phenethyl isothiocyanate	increases expression	1
CGP 52608	affects binding, increases reaction	1
(+)-JQ1 compound	increases expression	1
Doxorubicin	decreases expression	1
Tretinoin	increases expression	1
Urethane	increases expression	1
Valproic Acid	increases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	decreases expression	1
Lactic Acid	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)