DNAAF3

Summary

DNAAF3 (dynein axonemal assembly factor 3, HGNC:30492) is a protein-coding gene on chromosome 19q13.42, encoding Dynein axonemal assembly factor 3 (Q8N9W5). Required for the assembly of axonemal inner and outer dynein arms.

The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 352909 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 2 (Definitive, ClinGen) — +1 more curated relationship
• Clinical variants (ClinVar): 540 total — 30 pathogenic, 14 likely-pathogenic
• Phenotypes (HPO): 58
• MANE Select transcript: NM_001256715

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30492
Approved symbol	DNAAF3
Name	dynein axonemal assembly factor 3
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Aliases	FLJ40069, FLJ36139, pf22, PCD
Ensembl gene	ENSG00000167646
Ensembl biotype	protein_coding
OMIM	614566
Entrez	352909

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 11 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000391720, ENST00000455045, ENST00000524407, ENST00000526003, ENST00000526959, ENST00000527166, ENST00000527223, ENST00000527292, ENST00000528412, ENST00000528476, ENST00000532817, ENST00000533527, ENST00000534170, ENST00000534214, ENST00000586877, ENST00000587789, ENST00000588076, ENST00000911314, ENST00000952592, ENST00000952593

RefSeq mRNA: 4 — MANE Select: NM_001256715 NM_001256714, NM_001256715, NM_001256716, NM_178837

CCDS: CCDS12918, CCDS58679, CCDS58680, CCDS59422

Canonical transcript exons

ENST00000524407 — 12 exons

Exon	Start	End
ENSE00000000221	55158665	55159449
ENSE00002147594	55166523	55166613
ENSE00003034077	55165858	55166000
ENSE00003487477	55161065	55161187
ENSE00003488094	55165370	55165463
ENSE00003601983	55161643	55161825
ENSE00003617525	55161293	55161418
ENSE00003622198	55166329	55166417
ENSE00003650645	55159533	55159607
ENSE00003652104	55159899	55160013
ENSE00003657649	55160640	55160775
ENSE00003789732	55162133	55162290

Expression profiles

Bgee: expression breadth ubiquitous, 158 present calls, max score 99.03.

FANTOM5 (CAGE): breadth broad, TPM avg 2.3134 / max 136.2277, expressed in 570 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182724	1.1165	163
182727	0.9639	439
182725	0.1365	54
182729	0.0582	10
182728	0.0212	6
182730	0.0125	3
182726	0.0046	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	99.03	gold quality
right uterine tube	UBERON:0001302	98.73	gold quality
right testis	UBERON:0004534	96.50	gold quality
left testis	UBERON:0004533	96.45	gold quality
sperm	CL:0000019	95.88	gold quality
bronchial epithelial cell	CL:0002328	94.78	gold quality
testis	UBERON:0000473	93.81	gold quality
bronchus	UBERON:0002185	93.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.56	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.17	gold quality
heart left ventricle	UBERON:0002084	86.15	gold quality
cardiac ventricle	UBERON:0002082	84.63	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.69	gold quality
adult organism	UBERON:0007023	80.81	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.49	gold quality
fallopian tube	UBERON:0003889	80.34	gold quality
ventricular zone	UBERON:0003053	76.56	gold quality
heart	UBERON:0000948	75.80	gold quality
nasal cavity epithelium	UBERON:0005384	75.36	silver quality
right lung	UBERON:0002167	74.89	gold quality
right atrium auricular region	UBERON:0006631	74.57	gold quality
oviduct epithelium	UBERON:0004804	74.14	gold quality
cardiac atrium	UBERON:0002081	72.90	gold quality
left uterine tube	UBERON:0001303	72.49	gold quality
right adrenal gland cortex	UBERON:0035827	72.01	gold quality
right adrenal gland	UBERON:0001233	71.74	gold quality
skin of abdomen	UBERON:0001416	70.30	gold quality
left adrenal gland	UBERON:0001234	70.11	gold quality
nasal cavity mucosa	UBERON:0001826	70.10	gold quality
right lobe of thyroid gland	UBERON:0001119	69.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.60

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting DNAAF3, 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-4481	100.00	66.42	1669
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-12117	99.50	67.57	868
HSA-MIR-1224-5P	99.48	65.59	803
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-4795-5P	99.11	66.90	876
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-6761-5P	98.71	68.03	1504
HSA-MIR-6870-3P	98.08	65.10	692
HSA-MIR-6502-3P	97.86	65.43	569
HSA-MIR-3936	97.64	64.47	732
HSA-MIR-4689	96.97	65.79	1209
HSA-MIR-1270	96.94	66.65	931
HSA-MIR-620	96.94	66.79	888
HSA-MIR-2114-3P	95.45	66.11	579
HSA-MIR-6823-3P	95.45	66.14	704

Literature-anchored findings (GeneRIF, showing 3)

• study identified loss-of-function mutations in the human DNAAF3 gene in individuals from families with situs inversus and defects in the assembly of inner and outer dynein arm (PMID:22387996)
• Genetic variants within DNAH6, DNAH14, and DNAAF3 are associated with variation in lung function among persons with cystic fibrosis. (PMID:29323929)
• as the first report on DNAAF3 mutations in PCD patients in China, our study not only expands the spectrum of DNAAF3 mutations but also further complements the detailed phenotype characteristics of these patients. (PMID:31186518)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnaaf3l	ENSDARG00000036304
danio_rerio	dnaaf3	ENSDARG00000092662
mus_musculus	Dnaaf3	ENSMUSG00000055809
rattus_norvegicus	Dnaaf3	ENSRNOG00000038600
drosophila_melanogaster	Dnaaf3	FBGN0034352

Paralogs (1): CRACDL (ENSG00000196872)

Protein

Protein identifiers

Dynein axonemal assembly factor 3 — Q8N9W5 (reviewed: Q8N9W5)

All UniProt accessions (5): H0YCU4, H0YD30, M0R2L0, M0R359, Q8N9W5

UniProt curated annotations — full annotation on UniProt →

Function. Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.

Subcellular location. Cytoplasm. Dynein axonemal particle.

Disease relevance. Ciliary dyskinesia, primary, 2 (CILD2) [MIM:606763] 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 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.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the DNAAF3 family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q8N9W5-1	1	yes
Q8N9W5-5	2
Q8N9W5-3	3
Q8N9W5-6	4
Q8N9W5-7	5

RefSeq proteins (4): NP_001243643, NP_001243644, NP_001243645, NP_849159 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027974	DUF4470	Domain
IPR028235	DNAAF3_C	Domain
IPR039304	DNAAF3	Family

Pfam: PF14737, PF14740

UniProt features (14 total): splice variant 6, sequence variant 5, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N9W5-F1	81.06	0.68

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 200 (showing top): ACTACCT_MIR196A_MIR196B, GOBP_GROWTH, GOBP_MALE_GAMETE_GENERATION, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_MULTICELLULAR_ORGANISM_GROWTH, GOBP_ORGANELLE_ASSEMBLY, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_HEAD_DEVELOPMENT, GOBP_SEX_DIFFERENTIATION, GOBP_DETERMINATION_OF_ADULT_LIFESPAN, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION

GO Biological Process (14): cell morphogenesis (GO:0000902), spermatogenesis (GO:0007283), determination of left/right symmetry (GO:0007368), brain development (GO:0007420), heart development (GO:0007507), determination of adult lifespan (GO:0008340), lung development (GO:0030324), multicellular organism growth (GO:0035264), motile cilium assembly (GO:0044458), axonemal dynein complex assembly (GO:0070286), seminiferous tubule development (GO:0072520), cerebrospinal fluid circulation (GO:0090660), male gonad development (GO:0008584), cell projection organization (GO:0030030)

GO Molecular Function (0):

GO Cellular Component (3): extracellular region (GO:0005576), dynein axonemal particle (GO:0120293), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
animal organ development	3
multicellular organismal process	2
cellular anatomical structure	2
anatomical structure morphogenesis	1
developmental process involved in reproduction	1
male gamete generation	1
determination of bilateral symmetry	1
left/right pattern formation	1
central nervous system development	1
head development	1
circulatory system development	1
respiratory tube development	1
respiratory system development	1
developmental growth	1
cilium assembly	1
axoneme assembly	1
protein-containing complex assembly	1
male gonad development	1
tube development	1
reproductive structure development	1
epithelial cilium movement involved in extracellular fluid movement	1
nervous system process	1
gonad development	1
development of primary male sexual characteristics	1
cellular component organization	1
cytoplasm	1
intracellular membraneless organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

780 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAAF3	DNAAF4	Q8WXU2	898
DNAAF3	DNAAF1	Q8NEP3	886
DNAAF3	DNAAF5	Q86Y56	874
DNAAF3	DNAAF11	Q86X45	854
DNAAF3	DNAI2	Q9GZS0	846
DNAAF3	ZMYND10	O75800	840
DNAAF3	DNAAF6	Q9NQM4	831
DNAAF3	CCDC39	Q9UFE4	829
DNAAF3	DNAAF19	Q8IW40	827
DNAAF3	CFAP298	P57076	811
DNAAF3	SPAG1	Q07617	809
DNAAF3	DNAAF2	Q9NVR5	799
DNAAF3	CCDC40	Q4G0X9	776
DNAAF3	DNAI1	Q9UI46	765
DNAAF3	RSPH4A	Q5TD94	754

IntAct

5 interactions, top by confidence:

A	B	Type	Score
SP6	CCZ1B	psi-mi:“MI:0914”(association)	0.530
DNAAF3	RANBP2	psi-mi:“MI:0915”(physical association)	0.400
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
SP6	GPX1	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): DNAAF3 (Affinity Capture-MS), DNAAF3 (Affinity Capture-MS), DNAAF3 (Affinity Capture-MS), DNAAF3 (Proximity Label-MS), DNAAF3 (Affinity Capture-MS), DNAAF3 (Affinity Capture-MS), DNAAF3 (Affinity Capture-MS), DNAAF3 (Cross-Linking-MS (XL-MS)), DNAAF3 (Affinity Capture-RNA)

ESM2 similar proteins: A1L134, A9ULG4, B1H1N7, B2RUP2, D3ZI76, D3ZUM2, F1MLB4, I3L5V6, O95870, P47823, P70295, Q13144, Q14DK4, Q16586, Q1HAQ0, Q1JPD2, Q1LWG4, Q27J81, Q2TBP5, Q3TFD2, Q4R8P0, Q5NVK5, Q5R6S0, Q64350, Q643R3, Q6MG55, Q6NUI2, Q6NVG1, Q6PBN5, Q6PDS3, Q6SZW1, Q6V7V2, Q70J99, Q7TN37, Q8CHW4, Q8N0W3, Q8N9W5, Q8NF37, Q8TE02, Q95K25

Diamond homologs: A1ZB91, D3ZCM9, F1MLB4, F6S9E6, Q32NQ7, Q3UYV8, Q8N9W5, Q95K25, F1Q7Z7, F5A894

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	30
Likely pathogenic	14
Uncertain significance	240
Likely benign	179
Benign	19

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1073849	NM_001256715.2(DNAAF3):c.598_611del (p.Ser200fs)	Pathogenic
1322752	NM_001256715.2(DNAAF3):c.161_162del (p.Ser54fs)	Pathogenic
1370829	NM_001256715.2(DNAAF3):c.480+2_480+9del	Pathogenic
2028355	NM_001256715.2(DNAAF3):c.849_863del (p.Phe285_Ala289del)	Pathogenic
2122035	NM_001256715.2(DNAAF3):c.86-61_86-52del	Pathogenic
2127297	NM_001256715.2(DNAAF3):c.86-6del	Pathogenic
2170827	NM_001256715.2(DNAAF3):c.85+2T>G	Pathogenic
2424027	NC_000019.9:g.(?55644283)(55678016_?)del	Pathogenic
2664320	NM_001256715.2(DNAAF3):c.76C>T (p.Gln26Ter)	Pathogenic
2712918	NM_001256715.2(DNAAF3):c.632G>A (p.Trp211Ter)	Pathogenic
2741865	NM_001256715.2(DNAAF3):c.51G>A (p.Trp17Ter)	Pathogenic
2803666	NM_001256715.2(DNAAF3):c.458G>A (p.Trp153Ter)	Pathogenic
2828242	NM_001256715.2(DNAAF3):c.448C>T (p.Gln150Ter)	Pathogenic
2961596	NM_001256715.2(DNAAF3):c.1253_1256dup (p.Gln420fs)	Pathogenic
31532	NM_001256715.2(DNAAF3):c.182T>C (p.Leu61Pro)	Pathogenic
31533	NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter)	Pathogenic
3633013	NM_001256715.2(DNAAF3):c.-5+7dup	Pathogenic
3654297	NM_001256715.2(DNAAF3):c.961del (p.Val321fs)	Pathogenic
3670823	NM_001256715.2(DNAAF3):c.1238+1G>A	Pathogenic
3715030	NM_001256715.2(DNAAF3):c.-5+6G>A	Pathogenic
4085393	NM_001256715.2(DNAAF3):c.873_892del (p.Asp291fs)	Pathogenic
410279	NM_001256715.2(DNAAF3):c.997dup (p.Asp333fs)	Pathogenic
410287	NM_001256715.2(DNAAF3):c.755A>G (p.Asn252Ser)	Pathogenic
454617	NM_001256715.2(DNAAF3):c.155dup (p.Ser54fs)	Pathogenic
4699471	NM_001256715.2(DNAAF3):c.1194_1204del (p.Ala399fs)	Pathogenic
4768427	NM_001256715.2(DNAAF3):c.-14G>A	Pathogenic
572342	NM_001256715.2(DNAAF3):c.350G>A (p.Trp117Ter)	Pathogenic
581286	NM_001256715.2(DNAAF3):c.363_373del (p.Leu122fs)	Pathogenic
660592	NM_001256715.2(DNAAF3):c.1135C>T (p.Arg379Ter)	Pathogenic
858384	NM_001256715.2(DNAAF3):c.1109_1110del (p.Leu370fs)	Pathogenic

SpliceAI

1839 predictions. Top by Δscore:

Variant	Effect	Δscore
19:55159448:ACC:A	acceptor_loss	1.0000
19:55159449:CCT:C	acceptor_loss	1.0000
19:55159450:C:CA	acceptor_loss	1.0000
19:55159450:C:CC	acceptor_gain	1.0000
19:55159451:T:A	acceptor_loss	1.0000
19:55159529:TCA:T	donor_loss	1.0000
19:55159530:CA:C	donor_loss	1.0000
19:55159530:CAC:C	donor_loss	1.0000
19:55159531:A:AC	donor_gain	1.0000
19:55159531:A:C	donor_loss	1.0000
19:55159532:C:CC	donor_gain	1.0000
19:55159532:C:CG	donor_loss	1.0000
19:55159532:CCGGG:C	donor_gain	1.0000
19:55159893:GCTTA:G	donor_loss	1.0000
19:55159894:CTTA:C	donor_loss	1.0000
19:55159894:CTTAC:C	donor_loss	1.0000
19:55159895:TTA:T	donor_loss	1.0000
19:55159896:TA:T	donor_loss	1.0000
19:55159897:A:AG	donor_loss	1.0000
19:55159897:AC:A	donor_gain	1.0000
19:55159898:C:CT	donor_loss	1.0000
19:55159898:C:G	donor_loss	1.0000
19:55159898:CC:C	donor_gain	1.0000
19:55159898:CCCA:C	donor_gain	1.0000
19:55160011:CTG:C	acceptor_gain	1.0000
19:55160012:TG:T	acceptor_gain	1.0000
19:55160014:C:CC	acceptor_gain	1.0000
19:55161060:CGCA:C	donor_loss	1.0000
19:55161061:GCAC:G	donor_loss	1.0000
19:55161062:CA:C	donor_loss	1.0000

AlphaMissense

3464 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:55161385:A:G	W233R	0.997
19:55161385:A:T	W233R	0.997
19:55166365:A:G	W17R	0.996
19:55166365:A:T	W17R	0.996
19:55161381:C:G	R234P	0.995
19:55161675:A:G	W211R	0.995
19:55161675:A:T	W211R	0.995
19:55161154:C:A	G275W	0.994
19:55161673:C:A	W211C	0.994
19:55161673:C:G	W211C	0.994
19:55162256:G:C	N119K	0.994
19:55162256:G:T	N119K	0.994
19:55161151:C:G	D276H	0.993
19:55161154:C:G	G275R	0.993
19:55161154:C:T	G275R	0.993
19:55161326:G:C	N252K	0.993
19:55161326:G:T	N252K	0.993
19:55161362:A:C	F240L	0.993
19:55161362:A:T	F240L	0.993
19:55161364:A:G	F240L	0.993
19:55161823:G:C	F161L	0.993
19:55161823:G:T	F161L	0.993
19:55161825:A:G	F161L	0.993
19:55161138:C:T	G280E	0.992
19:55161139:C:G	G280R	0.992
19:55161139:C:T	G280R	0.992
19:55161160:A:C	Y273D	0.992
19:55161392:G:C	F230L	0.992
19:55161392:G:T	F230L	0.992
19:55161394:A:G	F230L	0.992

dbSNP variants (sampled 300 via entrez): RS1000249252 (19:55163470 C>A,G), RS1001124273 (19:55160194 G>A,T), RS1001492087 (19:55161663 T>G), RS1001928945 (19:55164476 T>C), RS1002594782 (19:55167036 C>G), RS1003056127 (19:55162643 C>T), RS1003385260 (19:55161435 G>C), RS1003780709 (19:55167697 C>A,G), RS1004303253 (19:55168455 C>T), RS1004697980 (19:55168660 C>T), RS1004727762 (19:55162075 G>A), RS1004819200 (19:55163179 T>G), RS1004952608 (19:55168028 C>G), RS1005410944 (19:55158727 C>A,T), RS1005494832 (19:55165091 G>A)

Disease associations

OMIM: gene MIM:614566 | disease phenotypes: MIM:244400, MIM:606763, MIM:115197, MIM:616871, MIM:115210, MIM:611880, MIM:613690

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 2	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 2	Definitive	AR

Mondo (7): primary ciliary dyskinesia (MONDO:0016575), primary ciliary dyskinesia 2 (MONDO:0011718), hypertrophic cardiomyopathy 4 (MONDO:0007268), DDX41-related hematologic malignancy predisposition syndrome (MONDO:0014809), cardiomyopathy, familial restrictive, 1 (MONDO:0007270), dilated cardiomyopathy 2A (MONDO:0012746), hypertrophic cardiomyopathy 7 (MONDO:0013369)

Orphanet (4): Primary ciliary dyskinesia (Orphanet:244), DDX41-related hematologic malignancy predisposition syndrome (Orphanet:488647), Familial isolated dilated cardiomyopathy (Orphanet:154), Familial isolated restrictive cardiomyopathy (Orphanet:75249)

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:0000246	Sinusitis
HP:0000365	Hearing impairment
HP:0000388	Otitis media
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:0001651	Dextrocardia
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:0002098	Respiratory distress
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002205	Recurrent respiratory infections
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress

GWAS associations

0 associations (top):

MeSH disease descriptors (5)

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
C566169	Cardiomyopathy, Familial Hypertrophic, 4 (supp.)
C566168	Cardiomyopathy, Familial Restrictive, 1 (supp.)
C535277	Primary ciliary dyskinesia, 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression	3
Valproic Acid	affects expression, increases expression, increases methylation	3
Air Pollutants	increases abundance, increases expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
mivebresib	increases expression	1
propionaldehyde	increases expression	1
trichostatin A	affects expression	1
butyraldehyde	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
pentanal	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
NSC 689534	affects binding, decreases expression	1
(+)-JQ1 compound	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Ethanol	decreases expression	1
Aldehydes	increases expression	1
Amiodarone	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Copper	affects binding, decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Rotenone	decreases expression	1

Clinical trials (associated diseases)

72 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)