CFAP298

Summary

CFAP298 (cilia and flagella associated protein 298, HGNC:1301) is a protein-coding gene on chromosome 21q22.11, encoding Cilia- and flagella-associated protein 298 (P57076). Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly. It is a common-essential gene (DepMap: required in 99.3% of cancer cell lines).

This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene.

Source: NCBI Gene 56683 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 26 (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 176 total — 13 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 59
• Cancer dependency (DepMap): dependent in 99.3% of screened cell lines (common-essential)
• MANE Select transcript: NM_021254

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1301
Approved symbol	CFAP298
Name	cilia and flagella associated protein 298
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20467, FBB18, CILD26, Kur, DNAAF16
Ensembl gene	ENSG00000159079
Ensembl biotype	protein_coding
OMIM	615494
Entrez	56683

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 17 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000290155, ENST00000300260, ENST00000382549, ENST00000425336, ENST00000431599, ENST00000440966, ENST00000458138, ENST00000483315, ENST00000877678, ENST00000877679, ENST00000877680, ENST00000877681, ENST00000926989, ENST00000926990, ENST00000926991, ENST00000926992, ENST00000926993, ENST00000926994, ENST00000926995

RefSeq mRNA: 5 — MANE Select: NM_021254 NM_001350334, NM_001350335, NM_001350336, NM_001350337, NM_021254

CCDS: CCDS13617, CCDS86984, CCDS86985

Canonical transcript exons

ENST00000290155 — 7 exons

Exon	Start	End
ENSE00001925020	32612105	32612377
ENSE00003493555	32609838	32610005
ENSE00003502977	32602272	32602367
ENSE00003634950	32604125	32604283
ENSE00003668923	32603161	32603292
ENSE00003680905	32607649	32607716
ENSE00003846823	32599354	32601973

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 97.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.6791 / max 289.5386, expressed in 1801 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190193	27.6791	1801
190196	13.6036	1789
190197	1.2614	704
190192	0.2412	62

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	97.75	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.47	gold quality
left testis	UBERON:0004533	96.03	gold quality
right testis	UBERON:0004534	95.80	gold quality
adenohypophysis	UBERON:0002196	95.54	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.37	gold quality
cerebellar hemisphere	UBERON:0002245	95.27	gold quality
cerebellar cortex	UBERON:0002129	95.10	gold quality
left lobe of thyroid gland	UBERON:0001120	93.37	gold quality
anterior cingulate cortex	UBERON:0009835	93.17	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.07	gold quality
mucosa of transverse colon	UBERON:0004991	93.05	gold quality
body of pancreas	UBERON:0001150	93.02	gold quality
right lobe of thyroid gland	UBERON:0001119	92.99	gold quality
right frontal lobe	UBERON:0002810	92.74	gold quality
metanephros cortex	UBERON:0010533	92.70	gold quality
lower esophagus mucosa	UBERON:0035834	92.63	gold quality
cerebellum	UBERON:0002037	92.51	gold quality
calcaneal tendon	UBERON:0003701	92.24	gold quality
left adrenal gland	UBERON:0001234	92.23	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.18	gold quality
lower esophagus	UBERON:0013473	92.17	gold quality
left adrenal gland cortex	UBERON:0035825	92.15	gold quality
gastrocnemius	UBERON:0001388	92.14	gold quality
descending thoracic aorta	UBERON:0002345	92.11	gold quality
right adrenal gland	UBERON:0001233	92.09	gold quality
minor salivary gland	UBERON:0001830	92.09	gold quality
body of stomach	UBERON:0001161	92.07	gold quality
thoracic aorta	UBERON:0001515	92.07	gold quality
ascending aorta	UBERON:0001496	92.06	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-130148	yes	13.84
E-CURD-114	yes	11.44
E-ANND-3	yes	9.71
E-MTAB-9388	yes	7.32
E-MTAB-7008	no	170.62
E-HCAD-5	no	20.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting CFAP298, 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-5680	99.91	69.83	3421
HSA-MIR-7844-5P	99.55	68.56	1428
HSA-MIR-148A-5P	99.30	68.27	1141
HSA-MIR-3168	99.08	67.75	1384
HSA-MIR-4774-3P	98.90	67.82	737
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-216B-3P	98.55	67.19	1223
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-4678	97.59	68.31	902
HSA-MIR-708-3P	97.50	68.67	1082
HSA-MIR-216B-5P	97.16	66.76	1126
HSA-MIR-3616-3P	96.96	65.45	983
HSA-MIR-3135A	96.41	65.30	494

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.3% of screened cell lines, common-essential.

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap298	ENSDARG00000035332
mus_musculus	Cfap298	ENSMUSG00000022972
rattus_norvegicus	Cfap298	ENSRNOG00000021399
drosophila_melanogaster	CG18675	FBGN0040696

Protein

Protein identifiers

Cilia- and flagella-associated protein 298 — P57076 (reviewed: P57076)

Alternative names: Protein kurly homolog

All UniProt accessions (7): P57076, C9J818, C9JX57, D3DSE6, H7C2R6, H7C3D9, Q9NX33

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly. Seems to be important for initiation rather than maintenance of cilium motility. Required for correct positioning of the cilium at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway. May suppress canonical Wnt signaling activity.

Subunit / interactions. Interacts with ZMYND10.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium basal body.

Disease relevance. Ciliary dyskinesia, primary, 26 (CILD26) [MIM:615500] A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. The disease is caused by variants affecting the gene represented in this entry. Cilia in nasal epithelia show the absence of both outer and inner dynein-arm components and complete paralysis.

Similarity. Belongs to the CFAP298 family.

RefSeq proteins (5): NP_001337263, NP_001337264, NP_001337265, NP_001337266, NP_067077* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021298	CFAP298	Family

Pfam: PF11069

UniProt features (6 total): sequence variant 3, chain 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P57076-F1	86.54	0.46

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): 264

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 238 (showing top): SHEPARD_BMYB_MORPHOLINO_UP, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GCM_GSPT1, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT, AAAGACA_MIR511, GOBP_ORGANELLE_ASSEMBLY, GCM_NUMA1, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, GCM_NF2, GOBP_REGULATION_OF_CILIUM_MOVEMENT, GOBP_CELL_PROJECTION_ORGANIZATION, chr21q22

GO Biological Process (2): regulation of cilium movement (GO:0003352), cilium assembly (GO:0060271)

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

GO Cellular Component (11): nucleus (GO:0005634), nucleoplasm (GO:0005654), centrosome (GO:0005813), cytosol (GO:0005829), ciliary transition zone (GO:0035869), ciliary basal body (GO:0036064), sperm principal piece (GO:0097228), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
microtubule organizing center	2
cilium	2
cilium movement	1
regulation of microtubule-based movement	1
axoneme assembly	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
intracellular membrane-bounded organelle	1
nuclear lumen	1
centriole	1
cytoplasm	1
sperm flagellum	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

428 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP298	DNAAF1	Q8NEP3	871
CFAP298	DNAAF5	Q86Y56	822
CFAP298	DNAAF3	Q8N9W5	811
CFAP298	DNAAF4	Q8WXU2	809
CFAP298	DNAAF11	Q86X45	803
CFAP298	SPAG1	Q07617	773
CFAP298	ZMYND10	O75800	769
CFAP298	DRC2	Q8IXS2	741
CFAP298	CFAP300	Q9BRQ4	735
CFAP298	DNAAF19	Q8IW40	729
CFAP298	DNAAF6	Q9NQM4	723
CFAP298	DNAAF2	Q9NVR5	718
CFAP298	ODAD3	A5D8V7	715
CFAP298	DNAI2	Q9GZS0	697
CFAP298	ODAD1	Q96M63	690

IntAct

40 interactions, top by confidence:

A	B	Type	Score
CFAP298	PEX7	psi-mi:“MI:0914”(association)	0.620
CFAP298	PEX7	psi-mi:“MI:0915”(physical association)	0.620
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530
CFAP298	PTGER4	psi-mi:“MI:0915”(physical association)	0.370
ERBB2	CFAP298	psi-mi:“MI:0915”(physical association)	0.370
ECE1	CFAP298	psi-mi:“MI:0915”(physical association)	0.370
CFAP298	MAPK6	psi-mi:“MI:0915”(physical association)	0.370
CFAP298	PLXNB1	psi-mi:“MI:0914”(association)	0.350
RNF111	UBXN7	psi-mi:“MI:0914”(association)	0.350
CFAP298	JUN	psi-mi:“MI:0914”(association)	0.350
CTPS1	GLUL	psi-mi:“MI:0914”(association)	0.350
FKBP5	IFT56	psi-mi:“MI:0914”(association)	0.350
FKBP8	GNB5	psi-mi:“MI:0914”(association)	0.350
RAB18	ASDURF	psi-mi:“MI:0914”(association)	0.350
RUVBL2	ASDURF	psi-mi:“MI:0914”(association)	0.350
RUVBL1	ASDURF	psi-mi:“MI:0914”(association)	0.350
SAR1B	UBA6	psi-mi:“MI:0914”(association)	0.350
hspa1a_hspa1b_human-1	SHTN1	psi-mi:“MI:0914”(association)	0.350
BAG1	PSMD11	psi-mi:“MI:0914”(association)	0.350
FEM1A	RNF113A	psi-mi:“MI:0914”(association)	0.350
HSPA8	SBNO1	psi-mi:“MI:0914”(association)	0.350
CFAP298	TRPS1	psi-mi:“MI:0915”(physical association)	0.000
CFAP298	SPTBN4	psi-mi:“MI:0915”(physical association)	0.000
CFAP298	SNRNP70	psi-mi:“MI:0915”(physical association)	0.000
CFAP298	FMN2	psi-mi:“MI:0915”(physical association)	0.000
CFAP298	NCOA2	psi-mi:“MI:0915”(physical association)	0.000
CFAP298	ZNF624	psi-mi:“MI:0915”(physical association)	0.000
CFAP298	RANBP9	psi-mi:“MI:0915”(physical association)	0.000
CFAP298	GMCL1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (128): PEX7 (Affinity Capture-MS), JUP (Affinity Capture-MS), HAL (Affinity Capture-MS), CALML5 (Affinity Capture-MS), TGM1 (Affinity Capture-MS), ASPRV1 (Affinity Capture-MS), TGM3 (Affinity Capture-MS), RNASE7 (Affinity Capture-MS), FLG (Affinity Capture-MS), GM2A (Affinity Capture-MS), POF1B (Affinity Capture-MS), CDSN (Affinity Capture-MS), SERPINA12 (Affinity Capture-MS), SERPINB8 (Affinity Capture-MS), CPA4 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8H579, A0A1L8HCK2, A1CMP1, A1DL98, A3RM20, A5PN52, A6H7C9, A6S6B0, A7F9B8, A7SGF0, A9ULR1, O04438, O14715, O59731, O76616, P20147, P20290, P28974, P33716, P34316, P57076, P84395, Q02106, Q02872, Q09375, Q0GBX8, Q0ULD0, Q10209, Q28C26, Q2NL37, Q3M6B5, Q5U3Z0, Q64152, Q66T64, Q6CLU6, Q6DRC3, Q6T938, Q6X1D7, Q7T2A3, Q8BL95

Diamond homologs: A0A1L8H579, A0A1L8HCK2, P57076, Q5U3Z0, Q6DRC3, Q8BL95, Q9VZH1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 48 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
protein folding	6	13.2×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	13
Likely pathogenic	1
Uncertain significance	60
Likely benign	80
Benign	11

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
1036754	NM_021254.4(CFAP298):c.168_171dup (p.Leu58fs)	Pathogenic
1065354	NM_021254.4(CFAP298):c.308C>A (p.Ala103Asp)	Pathogenic
2071804	NM_021254.4(CFAP298):c.673C>T (p.Gln225Ter)	Pathogenic
253448	GRCh37/hg19 21q22.11(chr21:32578640-35060092)x1	Pathogenic
3391941	GRCh37/hg19 21q22.11(chr21:32925452-35162911)x1	Pathogenic
4780636	NM_021254.4(CFAP298):c.437_446del (p.Leu146fs)	Pathogenic
4799464	NM_021254.4(CFAP298):c.439C>T (p.Arg147Ter)	Pathogenic
525239	NM_021254.4(CFAP298):c.557_566dup (p.Gln190fs)	Pathogenic
816159	GRCh37/hg19 21q22.11(chr21:31711916-34632473)x1	Pathogenic
869379	NM_021254.4(CFAP298):c.721C>T (p.Gln241Ter)	Pathogenic
872829	GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022)	Pathogenic
88690	NM_021254.4(CFAP298):c.792_795del (p.Ala263_Tyr264insTer)	Pathogenic
960519	NM_021254.4(CFAP298):c.688C>T (p.Arg230Ter)	Pathogenic
2845170	NM_021254.4(CFAP298):c.534+1G>A	Likely pathogenic

SpliceAI

1264 predictions. Top by Δscore:

Variant	Effect	Δscore
21:32602363:CCCCT:C	acceptor_gain	1.0000
21:32602364:CCCTC:C	acceptor_gain	1.0000
21:32603159:A:AC	donor_gain	1.0000
21:32603160:C:CA	donor_gain	1.0000
21:32603160:CTTG:C	donor_gain	1.0000
21:32604121:GTA:G	donor_loss	1.0000
21:32604122:TA:T	donor_loss	1.0000
21:32604123:A:AC	donor_gain	1.0000
21:32604123:A:T	donor_loss	1.0000
21:32604123:AC:A	donor_gain	1.0000
21:32604124:C:CT	donor_gain	1.0000
21:32604124:CC:C	donor_gain	1.0000
21:32604124:CCT:C	donor_gain	1.0000
21:32604124:CCTG:C	donor_gain	1.0000
21:32604144:T:TA	donor_gain	1.0000
21:32604279:TGTTT:T	acceptor_gain	1.0000
21:32604280:GTTT:G	acceptor_gain	1.0000
21:32604281:TTT:T	acceptor_gain	1.0000
21:32604282:TT:T	acceptor_gain	1.0000
21:32604282:TTC:T	acceptor_loss	1.0000
21:32604284:C:CC	acceptor_gain	1.0000
21:32604284:C:CG	acceptor_loss	1.0000
21:32604285:T:A	acceptor_loss	1.0000
21:32604285:T:C	acceptor_loss	1.0000
21:32605603:T:TA	donor_gain	1.0000
21:32607717:C:CC	acceptor_gain	1.0000
21:32609834:TTA:T	donor_loss	1.0000
21:32609835:TA:T	donor_loss	1.0000
21:32609835:TAC:T	donor_loss	1.0000
21:32609836:A:AC	donor_gain	1.0000

AlphaMissense

1910 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:32603250:A:G	W193R	0.998
21:32603250:A:T	W193R	0.998
21:32603253:A:G	W192R	0.998
21:32603253:A:T	W192R	0.998
21:32609848:C:A	R99S	0.997
21:32609848:C:G	R99S	0.997
21:32609849:C:G	R99T	0.997
21:32609951:A:G	L65P	0.997
21:32604204:A:T	I152N	0.996
21:32609849:C:A	R99M	0.995
21:32601877:A:G	W287R	0.994
21:32601877:A:T	W287R	0.994
21:32604222:A:G	L146P	0.994
21:32607669:C:G	A119P	0.994
21:32604214:C:G	A149P	0.993
21:32604217:C:G	G148R	0.993
21:32604201:A:T	V153D	0.992
21:32603234:A:G	L198P	0.991
21:32603251:C:A	W192C	0.991
21:32603251:C:G	W192C	0.991
21:32604186:A:G	L158S	0.991
21:32604204:A:C	I152S	0.991
21:32609955:C:G	G64R	0.990
21:32609955:C:T	G64R	0.990
21:32609981:C:T	G55D	0.990
21:32601931:A:G	W269R	0.989
21:32601931:A:T	W269R	0.989
21:32603170:C:A	K219N	0.989
21:32603170:C:G	K219N	0.989
21:32603216:A:T	L204H	0.989

dbSNP variants (sampled 300 via entrez): RS1000199086 (21:32600345 G>A), RS1000472280 (21:32604687 G>A,C), RS1000531049 (21:32599525 A>G), RS1000634531 (21:32600668 T>G), RS1000721543 (21:32605621 T>C), RS1000969563 (21:32604962 T>G), RS1001529408 (21:32605056 G>A), RS1001635107 (21:32607912 G>A), RS1001959004 (21:32605264 A>G), RS1002041057 (21:32610991 T>G), RS1002205518 (21:32600751 C>A,T), RS1002237961 (21:32606429 C>G,T), RS1002259251 (21:32600527 T>A,C), RS1002694000 (21:32608040 T>C), RS1002725006 (21:32608260 C>T)

Disease associations

OMIM: gene MIM:615494 | disease phenotypes: MIM:615500, MIM:615530, MIM:617389

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 26	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 26	Moderate	AR

Mondo (5): primary ciliary dyskinesia 26 (MONDO:0014211), early-onset Parkinson disease 20 (MONDO:0014233), developmental and epileptic encephalopathy, 53 (MONDO:0033362), 21q22.11q22.12 microdeletion syndrome (MONDO:0016845), primary ciliary dyskinesia (MONDO:0016575)

Orphanet (4): Primary ciliary dyskinesia (Orphanet:244), Situs ambiguus (Orphanet:157769), Atypical juvenile parkinsonism (Orphanet:391411), 21q22.11q22.12 microdeletion syndrome (Orphanet:261323)

HPO phenotypes

59 total (30 of 59 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:0004469	Chronic bronchitis
HP:0005301	Persistent left superior vena cava

GWAS associations

0 associations (top):

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
Smoke	decreases expression, increases abundance, increases expression	2
Valproic Acid	increases expression	2
bisphenol A	affects methylation	1
quercitrin	decreases expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	increases expression	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
bisphenol S	affects methylation, affects cotreatment, increases methylation	1
Fulvestrant	increases methylation, affects cotreatment	1
Air Pollutants	increases abundance, increases expression	1
Diazinon	increases methylation	1
Quercetin	decreases expression	1
Rotenone	decreases expression	1
Thiram	decreases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	decreases expression	1
Acrylamide	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)