DNAI2

Summary

DNAI2 (dynein axonemal intermediate chain 2, HGNC:18744) is a protein-coding gene on chromosome 17q25.1, encoding Dynein axonemal intermediate chain 2 (Q9GZS0). Component of dynein, a family of motor proteins essential for movement along microtubules.

The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

Source: NCBI Gene 64446 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 9 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 941 total — 67 pathogenic, 45 likely-pathogenic
• Phenotypes (HPO): 55
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_023036

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18744
Approved symbol	DNAI2
Name	dynein axonemal intermediate chain 2
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	CILD9, DIC2, oda6
Ensembl gene	ENSG00000171595
Ensembl biotype	protein_coding
OMIM	605483
Entrez	64446

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000311014, ENST00000446837, ENST00000579055, ENST00000579312, ENST00000579490, ENST00000582036, ENST00000856951, ENST00000856952, ENST00000856953, ENST00000856954, ENST00000856955, ENST00000927504, ENST00000962604

RefSeq mRNA: 3 — MANE Select: NM_023036 NM_001172810, NM_001353167, NM_023036

CCDS: CCDS11697, CCDS58589

Canonical transcript exons

ENST00000311014 — 14 exons

Exon	Start	End
ENSE00001228311	74312003	74312230
ENSE00001228351	74286977	74287098
ENSE00002709412	74274234	74274345
ENSE00002722050	74314589	74314884
ENSE00003458726	74289594	74289736
ENSE00003470606	74285040	74285201
ENSE00003496856	74309253	74309388
ENSE00003514317	74314121	74314271
ENSE00003566276	74299718	74299857
ENSE00003580149	74305219	74305442
ENSE00003604589	74281807	74282000
ENSE00003644145	74301046	74301168
ENSE00003664787	74291020	74291133
ENSE00003692243	74310017	74310163

Expression profiles

Bgee: expression breadth ubiquitous, 115 present calls, max score 98.39.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2879 / max 92.9235, expressed in 94 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
162588	0.1859	60
162589	0.0482	16
162590	0.0320	14
162587	0.0218	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.39	gold quality
bronchial epithelial cell	CL:0002328	98.32	gold quality
epithelium of bronchus	UBERON:0002031	98.19	gold quality
bronchus	UBERON:0002185	97.48	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.33	gold quality
left testis	UBERON:0004533	90.77	gold quality
right testis	UBERON:0004534	90.39	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.23	gold quality
testis	UBERON:0000473	87.96	gold quality
nasal cavity epithelium	UBERON:0005384	87.88	gold quality
sperm	CL:0000019	87.46	gold quality
epithelium of nasopharynx	UBERON:0001951	86.32	gold quality
male germ cell	CL:0000015	85.13	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.34	gold quality
trachea	UBERON:0003126	78.09	gold quality
nasal cavity mucosa	UBERON:0001826	76.09	gold quality
adult organism	UBERON:0007023	75.52	gold quality
fallopian tube	UBERON:0003889	75.28	gold quality
right lung	UBERON:0002167	72.13	gold quality
choroid plexus epithelium	UBERON:0003911	71.78	gold quality
caput epididymis	UBERON:0004358	71.50	gold quality
granulocyte	CL:0000094	70.16	gold quality
left uterine tube	UBERON:0001303	70.06	gold quality
secondary oocyte	CL:0000655	69.82	gold quality
oviduct epithelium	UBERON:0004804	68.59	gold quality
pituitary gland	UBERON:0000007	65.69	gold quality
adenohypophysis	UBERON:0002196	63.79	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	62.75	gold quality
hypothalamus	UBERON:0001898	59.64	gold quality
lung	UBERON:0002048	59.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting DNAI2, 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-5696	99.98	72.36	4487
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-651-5P	99.64	68.49	1104
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-12114	98.70	63.45	730
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-6730-5P	98.03	68.12	1299
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-4286	97.20	64.37	1587
HSA-MIR-3116	97.07	65.78	1324
HSA-MIR-1178-5P	95.83	64.12	504
HSA-MIR-764	94.16	64.85	656

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 1)

• DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. (PMID:18950741)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnai2a	ENSDARG00000100285
mus_musculus	Dnai2	ENSMUSG00000034706
rattus_norvegicus	Dnai2	ENSRNOG00000024523
drosophila_melanogaster	mmm	FBGN0035799

Paralogs (7): DYNC1I2 (ENSG00000077380), DYNC2I2 (ENSG00000119333), DNAI1 (ENSG00000122735), DYNC2I1 (ENSG00000126870), DNAI4 (ENSG00000152763), DYNC1I1 (ENSG00000158560), DNAI3 (ENSG00000162643)

Protein

Protein identifiers

Dynein axonemal intermediate chain 2 — Q9GZS0 (reviewed: Q9GZS0)

Alternative names: Axonemal dynein intermediate chain 2

All UniProt accessions (3): Q9GZS0, J3KT23, J3QRG2

UniProt curated annotations — full annotation on UniProt →

Function. Component of dynein, a family of motor proteins essential for movement along microtubules. Required for structural and functional integrity of cilia. Part of the dynein complex of respiratory cilia.

Subunit / interactions. Dynein consists of at least two heavy chains and a number of intermediate and light chains. Part of the ciliary outer dynein arms (ODAs), at least consisting of dynein axonemal heavy chains, light chains and intermediate chains. The ODAs interact with DNAAF9; this interaction inactivates the dyneins. Interacts with DNAAF2. Interacts with DNAAF6/PIH1D3. Interacts with HEATR2; probably involved in outer arm dynein assembly. Interacts with CFAP53. Interacts with CFAP70 and DNAI1.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Dynein axonemal particle.

Tissue specificity. Highly expressed in trachea and testis. Expressed in respiratory ciliated cells (at protein level).

Disease relevance. Ciliary dyskinesia, primary, 9 (CILD9) [MIM:612444] 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.

Similarity. Belongs to the dynein intermediate chain family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9GZS0-1	1	yes
Q9GZS0-2	2

RefSeq proteins (3): NP_001166281, NP_001340096, NP_075462* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR050687	Dynein_IC	Family

Pfam: PF00400

UniProt features (15 total): repeat 7, sequence variant 2, sequence conflict 2, chain 1, splice variant 1, region of interest 1, compositionally biased region 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-Q9GZS0-F1	84.27	0.54

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 179 (showing top): GOCC_CELL_SURFACE, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, KEGG_HUNTINGTONS_DISEASE, GOBP_OUTER_DYNEIN_ARM_ASSEMBLY, NAKAMURA_LUNG_CANCER_DIFFERENTIATION_MARKERS, GOBP_ORGANELLE_ASSEMBLY, GOBP_MICROTUBULE_BUNDLE_FORMATION, NAKAMURA_BRONCHIAL_AND_BRONCHIOLAR_EPITHELIA, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY

GO Biological Process (5): cilium movement (GO:0003341), determination of left/right symmetry (GO:0007368), outer dynein arm assembly (GO:0036158), cilium assembly (GO:0060271), cell projection organization (GO:0030030)

GO Molecular Function (4): microtubule motor activity (GO:0003777), dynein light chain binding (GO:0045503), dynein heavy chain binding (GO:0045504), protein binding (GO:0005515)

GO Cellular Component (14): axonemal dynein complex (GO:0005858), microtubule (GO:0005874), axoneme (GO:0005930), external side of plasma membrane (GO:0009897), sperm flagellum (GO:0036126), outer dynein arm (GO:0036157), glial cell projection (GO:0097386), dynein axonemal particle (GO:0120293), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), dynein complex (GO:0030286), cell projection (GO:0042995), 9+2 motile cilium (GO:0097729)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
protein binding	2
plasma membrane bounded cell projection	2
intracellular membraneless organelle	2
microtubule-based movement	1
determination of bilateral symmetry	1
left/right pattern formation	1
axonemal dynein complex assembly	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
cellular component organization	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
binding	1
axoneme	1
dynein complex	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
plasma membrane	1
cell surface	1
side of membrane	1
9+2 motile cilium	1
axonemal dynein complex	1
cytoplasm	1
intracellular anatomical structure	1
intraciliary transport particle	1
membrane-bounded organelle	1
microtubule associated complex	1
catalytic complex	1
radial spoke	1

Protein interactions and networks

STRING

1021 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAI2	DNAH5	Q8TE73	991
DNAI2	DNALI1	O14645	983
DNAI2	DNAAF1	Q8NEP3	982
DNAI2	DNAAF2	Q9NVR5	970
DNAI2	DNAH11	Q96DT5	964
DNAI2	RSPH4A	Q5TD94	952
DNAI2	RSPH9	Q9H1X1	952
DNAI2	NME8	Q8N427	933
DNAI2	DNAAF3	Q8N9W5	846
DNAI2	ODAD1	Q96M63	832
DNAI2	DNAAF19	Q8IW40	822
DNAI2	CCDC39	Q9UFE4	818
DNAI2	SPAG1	Q07617	806
DNAI2	CCDC40	Q4G0X9	806
DNAI2	DNAH9	Q9NYC9	804

IntAct

4 interactions, top by confidence:

A	B	Type	Score
EYA1	PTPN9	psi-mi:“MI:0914”(association)	0.530
DNAI2	TCP1	psi-mi:“MI:0914”(association)	0.350
DNAI2	APAF1	psi-mi:“MI:0914”(association)	0.350

BioGRID (90): DNAI2 (Affinity Capture-Western), SQSTM1 (Affinity Capture-Western), DNAI2 (Reconstituted Complex), CCT2 (Affinity Capture-MS), CCT6A (Affinity Capture-MS), CCT3 (Affinity Capture-MS), STIP1 (Affinity Capture-MS), CCT5 (Affinity Capture-MS), CCT7 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), TCP1 (Affinity Capture-MS), CCT4 (Affinity Capture-MS), MYO1D (Affinity Capture-MS), STIP1 (Affinity Capture-MS), TCP1 (Affinity Capture-MS)

ESM2 similar proteins: A2AC93, B2RY71, E7F6H7, E9PYY5, E9Q5M6, O14576, O43815, O55106, O88485, O88487, P27766, P36872, P70483, Q0III3, Q13409, Q13610, Q16959, Q16960, Q29RQ3, Q2HJ56, Q32KS2, Q32LP9, Q4QR00, Q4V8G4, Q5DQR4, Q5NVM2, Q5SQE2, Q5VTH9, Q5XIL8, Q5ZLK1, Q62871, Q63100, Q66HC9, Q6GPB9, Q8BPM2, Q8C0M8, Q8C0P5, Q8IVH8, Q8IWG1, Q92828

Diamond homologs: A2AC93, B2RY71, P27766, Q16960, Q4QR00, Q66HC9, Q9GZS0, A1C6X5, A1DHK2, A2QBZ0, A3GFK8, A4RD35, A5DB75, A5DTX3, O08653, P38968, Q0CYG9, Q0ULF5, Q1DX43, Q2GVT8, Q2UF60, Q4X0M4, Q55CT5, Q5AAU3, Q5AZM3, Q5S580, Q6BRR2, Q6C414, Q6C9N0, Q6CL75, Q6FNU4, Q6NQ88, Q75A30, Q873A1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	67
Likely pathogenic	45
Uncertain significance	254
Likely benign	446
Benign	48

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1070236	NM_023036.6(DNAI2):c.732G>A (p.Trp244Ter)	Pathogenic
1071527	NC_000017.10:g.(?72283106)(72283247_?)del	Pathogenic
1074621	NM_023036.6(DNAI2):c.21C>G (p.Tyr7Ter)	Pathogenic
1075524	NC_000017.10:g.(?72277936)(72281350_?)del	Pathogenic
1075525	NC_000017.10:g.(?72285723)(72287282_?)del	Pathogenic
1075745	NM_023036.6(DNAI2):c.739C>T (p.Arg247Ter)	Pathogenic
1076863	NM_023036.6(DNAI2):c.1357del (p.Glu453fs)	Pathogenic
1390669	NM_023036.6(DNAI2):c.895del (p.Glu299fs)	Pathogenic
1400591	NM_023036.6(DNAI2):c.928A>T (p.Lys310Ter)	Pathogenic
1434928	NM_023036.6(DNAI2):c.246_250del (p.Lys83fs)	Pathogenic
1452380	NM_023036.6(DNAI2):c.1260_1293del (p.Thr421fs)	Pathogenic
1456236	NM_023036.6(DNAI2):c.1375del (p.Arg459fs)	Pathogenic
1456265	NM_023036.6(DNAI2):c.1428del (p.Thr477fs)	Pathogenic
1456746	NM_023036.6(DNAI2):c.1790del (p.Asp597fs)	Pathogenic
1456777	NC_000017.10:g.(?72295847)(72296006_?)del	Pathogenic
1456778	NC_000017.10:g.(?72305382)(72306312_?)del	Pathogenic
1457363	NM_023036.6(DNAI2):c.1795G>T (p.Glu599Ter)	Pathogenic
1459255	NC_000017.10:g.(?72295837)(72297327_?)del	Pathogenic
1957723	NM_023036.6(DNAI2):c.1637del (p.Ser546fs)	Pathogenic
1999843	NM_023036.6(DNAI2):c.614del (p.Asn205fs)	Pathogenic
2031981	NM_023036.6(DNAI2):c.875G>A (p.Trp292Ter)	Pathogenic
2036392	NC_000017.11:g.74285040del	Pathogenic
2042822	NM_023036.6(DNAI2):c.1555_1561del (p.Leu519fs)	Pathogenic
2050294	NM_023036.6(DNAI2):c.823A>T (p.Lys275Ter)	Pathogenic
2141831	NM_023036.6(DNAI2):c.1360del (p.Ala454fs)	Pathogenic
241448	NM_023036.6(DNAI2):c.1420G>A (p.Gly474Arg)	Pathogenic
2703075	NM_023036.6(DNAI2):c.1186_1193del (p.Arg396fs)	Pathogenic
2708837	NM_023036.6(DNAI2):c.261_262dup (p.Leu88fs)	Pathogenic
2709909	NM_023036.6(DNAI2):c.546C>G (p.Tyr182Ter)	Pathogenic
2715796	NM_023036.6(DNAI2):c.154C>T (p.Gln52Ter)	Pathogenic

SpliceAI

2644 predictions. Top by Δscore:

Variant	Effect	Δscore
17:74274344:GG:G	donor_gain	1.0000
17:74274345:GG:G	donor_gain	1.0000
17:74281806:GCA:G	acceptor_gain	1.0000
17:74281998:GAG:G	donor_gain	1.0000
17:74281999:AG:A	donor_loss	1.0000
17:74282000:GG:G	donor_loss	1.0000
17:74282001:GTGG:G	donor_loss	1.0000
17:74285164:A:G	donor_gain	1.0000
17:74285197:GCTCT:G	donor_gain	1.0000
17:74285202:G:GG	donor_gain	1.0000
17:74287052:G:GT	donor_gain	1.0000
17:74287064:G:GT	donor_gain	1.0000
17:74287077:C:G	donor_gain	1.0000
17:74289590:GCA:G	acceptor_loss	1.0000
17:74289591:CAG:C	acceptor_loss	1.0000
17:74289592:A:AG	acceptor_gain	1.0000
17:74289592:A:AT	acceptor_loss	1.0000
17:74289592:AG:A	acceptor_gain	1.0000
17:74289592:AGG:A	acceptor_gain	1.0000
17:74289593:G:GA	acceptor_gain	1.0000
17:74289593:GG:G	acceptor_gain	1.0000
17:74289593:GGG:G	acceptor_gain	1.0000
17:74289593:GGGAC:G	acceptor_gain	1.0000
17:74291015:TATA:T	acceptor_loss	1.0000
17:74291017:TAG:T	acceptor_loss	1.0000
17:74291018:A:AG	acceptor_gain	1.0000
17:74291018:AG:A	acceptor_loss	1.0000
17:74291019:G:GG	acceptor_gain	1.0000
17:74291019:GA:G	acceptor_gain	1.0000
17:74291019:GAA:G	acceptor_gain	1.0000

AlphaMissense

4028 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:74291125:G:A	G239E	0.999
17:74291125:G:T	G239V	0.999
17:74299733:G:C	R247P	0.999
17:74299804:T:A	W271R	0.999
17:74299804:T:C	W271R	0.999
17:74301047:T:A	V289D	0.999
17:74301055:T:A	W292R	0.999
17:74301055:T:C	W292R	0.999
17:74301065:G:C	R295P	0.999
17:74285097:T:A	W81R	0.998
17:74285097:T:C	W81R	0.998
17:74289727:T:A	W201R	0.998
17:74289727:T:C	W201R	0.998
17:74291113:G:A	G235D	0.998
17:74299723:T:A	W244R	0.998
17:74299723:T:C	W244R	0.998
17:74299777:C:G	H262D	0.998
17:74299837:T:C	S282P	0.998
17:74299843:T:C	S284P	0.998
17:74299844:C:A	S284Y	0.998
17:74299844:C:T	S284F	0.998
17:74305237:G:T	G336W	0.998
17:74305238:G:A	G336E	0.998
17:74309284:T:A	W415R	0.998
17:74309284:T:C	W415R	0.998
17:74289662:C:A	A179E	0.997
17:74299816:A:G	K275E	0.997
17:74299818:G:C	K275N	0.997
17:74299818:G:T	K275N	0.997
17:74299852:G:T	G287W	0.997

dbSNP variants (sampled 300 via entrez): RS1000027179 (17:74285377 A>G), RS1000056731 (17:74285689 A>G), RS1000612239 (17:74308236 G>A), RS1000628165 (17:74308050 G>A,C), RS1000704679 (17:74296482 C>G), RS1000726721 (17:74302392 A>G), RS1000801573 (17:74302555 G>A,T), RS1000816201 (17:74303049 C>T), RS1000978308 (17:74279661 G>A), RS1001055682 (17:74273108 C>G), RS1001114472 (17:74313226 C>T), RS1001183974 (17:74297472 C>G,T), RS1001265292 (17:74304076 C>T), RS1001313084 (17:74283859 C>T), RS1001361864 (17:74279188 A>G)

Disease associations

OMIM: gene MIM:605483 | disease phenotypes: MIM:244400, MIM:612444

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 9	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 9	Definitive	AR

Mondo (2): primary ciliary dyskinesia (MONDO:0016575), primary ciliary dyskinesia 9 (MONDO:0012906)

Orphanet (1): Primary ciliary dyskinesia (Orphanet:244)

HPO phenotypes

55 total (30 of 55 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:0002090	Pneumonia
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0003623	Neonatal onset
HP:0005301	Persistent left superior vena cava
HP:0005425	Recurrent sinopulmonary infections

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000905_14	Information processing speed	1.000000e-06
GCST008869_5	Metabolite risk score for predicting weight gain	3.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004363	information processing speed
EFO:0004566	body weight gain
EFO:0004725	metabolite measurement

MeSH disease descriptors (3)

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
C567310	Ciliary Dyskinesia, Primary, 9 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression	4
Benzo(a)pyrene	affects methylation	2
Smoke	increases abundance, increases expression	2
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Formaldehyde	increases expression	1
Methapyrilene	increases methylation	1
Aflatoxin B1	decreases methylation	1
Copper Sulfate	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)