DNAH7

Summary

DNAH7 (dynein axonemal heavy chain 7, HGNC:18661) is a protein-coding gene on chromosome 2q32.3, encoding Dynein axonemal heavy chain 7 (Q8WXX0). Force generating protein that plays an important role in respiratory cilia and sperm flagella beating.

DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).

Source: NCBI Gene 56171 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 837 total — 3 pathogenic, 8 likely-pathogenic
• Phenotypes (HPO): 54
• MANE Select transcript: NM_018897

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18661
Approved symbol	DNAH7
Name	dynein axonemal heavy chain 7
Location	2q32.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0944
Ensembl gene	ENSG00000118997
Ensembl biotype	protein_coding
OMIM	610061
Entrez	56171

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000312428, ENST00000409063, ENST00000410072, ENST00000427816, ENST00000438565, ENST00000475293, ENST00000484183, ENST00000493844

RefSeq mRNA: 1 — MANE Select: NM_018897 NM_018897

CCDS: CCDS42794

Canonical transcript exons

ENST00000312428 — 65 exons

Exon	Start	End
ENSE00000784062	195816628	195816963
ENSE00000784063	195817696	195817829
ENSE00000803053	195906907	195907009
ENSE00000803054	195906659	195906786
ENSE00000803058	195858474	195858804
ENSE00000803059	195857377	195857723
ENSE00000803060	195855811	195855991
ENSE00000803061	195853343	195853528
ENSE00000803062	195845002	195845165
ENSE00000803063	195834206	195834360
ENSE00000803065	195809745	195809871
ENSE00000803066	195808682	195808876
ENSE00000803068	195799296	195799472
ENSE00000803069	195796576	195796737
ENSE00000803071	195787010	195787171
ENSE00000803072	195777800	195777985
ENSE00000803073	195775846	195775983
ENSE00000803074	195771660	195771890
ENSE00000964651	195806740	195806832
ENSE00000964652	195756133	195756285
ENSE00000964653	195754337	195754514
ENSE00001069938	195875675	195875843
ENSE00001090175	195922088	195922197
ENSE00001160085	195861717	195861946
ENSE00001160092	195864149	195865021
ENSE00001160097	195872250	195872469
ENSE00001160101	195873568	195873694
ENSE00001160111	195876544	195876699
ENSE00001160118	195881795	195881992
ENSE00001160124	195884585	195884809
ENSE00001160129	195886141	195886272
ENSE00001160136	195888258	195888434
ENSE00001160142	195888799	195888981
ENSE00001160151	195894976	195895224
ENSE00001160176	195923595	195923807
ENSE00001160182	195926426	195926566
ENSE00001160193	195934591	195934789
ENSE00001160200	195936599	195936792
ENSE00001160208	195957261	195957447
ENSE00001160218	195960260	195960945
ENSE00001160224	195969948	195970094
ENSE00001160230	195972242	195972466
ENSE00001160238	195984632	195984710
ENSE00001160246	195987066	195987193
ENSE00001160253	195987957	195988229
ENSE00001160260	196000704	196000883
ENSE00001160270	196001675	196001858
ENSE00001160301	196024429	196024504
ENSE00001160309	196026760	196026940
ENSE00001160318	196027960	196028047
ENSE00001160326	196047352	196047499
ENSE00001160332	196048296	196048404
ENSE00001165527	195900282	195900494
ENSE00001165536	195910027	195910195
ENSE00001244762	195891655	195891804
ENSE00001244911	196012787	196012906
ENSE00001244919	196019170	196019295
ENSE00001586756	195737703	195738127
ENSE00002496647	196051187	196051249
ENSE00003512410	195897667	195897765
ENSE00003558965	195794338	195794538
ENSE00003616502	196058054	196058116
ENSE00003645298	195740766	195740869
ENSE00003690764	195824255	195824445
ENSE00003846810	196068697	196068837

Expression profiles

Bgee: expression breadth ubiquitous, 212 present calls, max score 97.05.

FANTOM5 (CAGE): breadth broad, TPM avg 2.0897 / max 107.3630, expressed in 614 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
32987	2.0897	614

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	97.05	gold quality
bronchial epithelial cell	CL:0002328	95.23	gold quality
epithelium of bronchus	UBERON:0002031	94.54	gold quality
bronchus	UBERON:0002185	93.34	gold quality
buccal mucosa cell	CL:0002336	92.79	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.65	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.21	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.63	gold quality
caput epididymis	UBERON:0004358	82.36	gold quality
epithelium of nasopharynx	UBERON:0001951	81.65	gold quality
sperm	CL:0000019	79.99	gold quality
adenohypophysis	UBERON:0002196	79.98	gold quality
left testis	UBERON:0004533	79.93	gold quality
caudate nucleus	UBERON:0001873	79.91	gold quality
right testis	UBERON:0004534	79.66	gold quality
pituitary gland	UBERON:0000007	79.54	gold quality
testis	UBERON:0000473	79.21	gold quality
male germ cell	CL:0000015	78.79	gold quality
nucleus accumbens	UBERON:0001882	78.62	gold quality
choroid plexus epithelium	UBERON:0003911	78.45	gold quality
nasal cavity epithelium	UBERON:0005384	77.05	gold quality
Brodmann (1909) area 9	UBERON:0013540	76.26	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.80	gold quality
right frontal lobe	UBERON:0002810	75.77	gold quality
amygdala	UBERON:0001876	75.71	gold quality
cingulate cortex	UBERON:0003027	75.68	gold quality
nasal cavity mucosa	UBERON:0001826	75.58	gold quality
anterior cingulate cortex	UBERON:0009835	75.49	gold quality
putamen	UBERON:0001874	74.61	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	74.43	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.64
E-MTAB-9388	yes	6.70

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting DNAH7, 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-3613-3P	100.00	76.36	7965
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-6830-5P	99.01	68.73	1884
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-1178-3P	98.57	67.09	890
HSA-MIR-4684-5P	98.29	67.99	1650
HSA-MIR-937-5P	97.43	68.39	667
HSA-MIR-3194-5P	96.80	64.90	1027
HSA-MIR-5702	96.68	68.21	958
HSA-MIR-3914	94.91	65.77	643

Literature-anchored findings (GeneRIF, showing 4)

• These studies identify DNAH7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia. (PMID:11877439)
• Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure. (PMID:34476482)
• Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human. (PMID:35543642)
• Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7. (PMID:39056782)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnah7	ENSDARG00000060165
mus_musculus	Dnah7b	ENSMUSG00000041144
mus_musculus	Dnah7a	ENSMUSG00000096141
mus_musculus	Dnah7c	ENSMUSG00000101337
rattus_norvegicus	Dnah7	ENSRNOG00000060984
drosophila_melanogaster	Dhc36C	FBGN0013810

Paralogs (15): DNAH9 (ENSG00000007174), DNAH5 (ENSG00000039139), DNAH11 (ENSG00000105877), DNAH1 (ENSG00000114841), DNAH6 (ENSG00000115423), DNAH8 (ENSG00000124721), DNAH3 (ENSG00000158486), DNAH12 (ENSG00000174844), DNHD1 (ENSG00000179532), DNAH2 (ENSG00000183914), DNAH14 (ENSG00000185842), DYNC2H1 (ENSG00000187240), DNAH17 (ENSG00000187775), DYNC1H1 (ENSG00000197102), DNAH10 (ENSG00000197653)

Protein

Protein identifiers

Dynein axonemal heavy chain 7 — Q8WXX0 (reviewed: Q8WXX0)

Alternative names: Axonemal beta dynein heavy chain 7, Ciliary dynein heavy chain 7, Dynein heavy chain-like protein 2, hDHC2

All UniProt accessions (3): Q8WXX0, C9JUY3, H7C362

UniProt curated annotations — full annotation on UniProt →

Function. Force generating protein that plays an important role in respiratory cilia and sperm flagella beating. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.

Subunit / interactions. The dynein complex consists of at least two heavy chains and a number of intermediate and light chains.

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

Tissue specificity. Detected in brain, testis and trachea. Detected in bronchial cells (at protein level).

Disease relevance. Ciliary dyskinesia, primary, 50 (CILD50) [MIM:620356] A form of primary ciliary dyskinesia, 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. CILD50 is an autosomal recessive form characterized by chronic sinusitis and bronchitis as well as male infertility. Patient sperm have markedly reduced progressive motility, and multiple morphologic abnormalities of the flagella. The disease may be caused by variants affecting the gene represented in this entry.

Domain organisation. Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.

Induction. Up-regulated during ciliogenesis (at protein level).

Similarity. Belongs to the dynein heavy chain family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8WXX0-1	1	yes
Q8WXX0-2	2
Q8WXX0-3	3
Q8WXX0-4	4

RefSeq proteins (1): NP_061720* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR003593	AAA+_ATPase	Domain
IPR004273	Dhc_D6_P-loop	Domain
IPR013602	Dhc_linker	Domain
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR024317	Dhc_D4	Domain
IPR024743	Dynein_HC_stalk	Domain
IPR026983	DHC	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR035699	Dhc_AAA	Domain
IPR035706	AAA_9	Domain
IPR041228	Dhc_C	Domain
IPR041466	Dhc_AAA5_ext	Domain
IPR041589	DNAH3_AAA_lid_1	Domain
IPR041658	AAA_lid_11	Domain
IPR042219	AAA_lid_11_sf	Homologous_superfamily
IPR042222	Dynein_2_N	Homologous_superfamily
IPR042228	Dynein_linker_3	Homologous_superfamily
IPR043157	Dynein_AAA1S	Homologous_superfamily
IPR043160	Dynein_C_barrel	Homologous_superfamily

Pfam: PF03028, PF08393, PF12774, PF12775, PF12777, PF12780, PF12781, PF17852, PF17857, PF18198, PF18199

UniProt features (58 total): sequence variant 24, region of interest 10, sequence conflict 8, splice variant 6, binding site 5, coiled-coil region 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8J07	ELECTRON MICROSCOPY	4.1
6RZA	ELECTRON MICROSCOPY	4.5

Predicted structure (AlphaFold)

No AlphaFold model available for Q8WXX0 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

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

Ligand- & substrate-binding residues (5): 132–139; 1328–1335; 1609–1616; 1976–1983; 2341–2348

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 245 (showing top): GOBP_INNER_DYNEIN_ARM_ASSEMBLY, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, TGACATY_UNKNOWN, CYTAGCAAY_UNKNOWN, GOBP_MICROTUBULE_BUNDLE_FORMATION, POU3F2_02, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, GOCC_CYTOPLASMIC_REGION

GO Biological Process (5): cilium movement (GO:0003341), inner dynein arm assembly (GO:0036159), cilium-dependent cell motility (GO:0060285), cilium movement involved in cell motility (GO:0060294), microtubule-based movement (GO:0007018)

GO Molecular Function (8): microtubule motor activity (GO:0003777), calcium ion binding (GO:0005509), ATP binding (GO:0005524), minus-end-directed microtubule motor activity (GO:0008569), dynein intermediate chain binding (GO:0045505), dynein light intermediate chain binding (GO:0051959), nucleotide binding (GO:0000166), ATP hydrolysis activity (GO:0016887)

GO Cellular Component (10): axonemal dynein complex (GO:0005858), microtubule (GO:0005874), cilium (GO:0005929), inner dynein arm (GO:0036156), 9+2 motile cilium (GO:0097729), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), dynein complex (GO:0030286), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cilium movement	2
ATP-dependent activity	2
protein binding	2
cellular anatomical structure	2
microtubule-based movement	1
axonemal dynein complex assembly	1
cilium or flagellum-dependent cell motility	1
cell motility	1
cilium-dependent cell motility	1
microtubule-based process	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
metal ion binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
microtubule motor activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
ribonucleoside triphosphate phosphatase activity	1
axoneme	1
dynein complex	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
axonemal dynein complex	1
radial spoke	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
microtubule associated complex	1
catalytic complex	1
cilium	1

Protein interactions and networks

STRING

1507 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAH7	DNAI1	Q9UI46	626
DNAH7	ZMYND10	O75800	548
DNAH7	CCDC40	Q4G0X9	545
DNAH7	ODAD2	Q5T2S8	544
DNAH7	DNAI2	Q9GZS0	538
DNAH7	DNALI1	O14645	528
DNAH7	CCDC39	Q9UFE4	494
DNAH7	DNAAF11	Q86X45	480
DNAH7	DNAL4	O96015	479
DNAH7	CFAP45	Q9UL16	460
DNAH7	TTC12	Q9H892	449
DNAH7	DYNLRB2	Q8TF09	445
DNAH7	DNAAF1	Q8NEP3	444
DNAH7	IFT38	Q96AJ1	435
DNAH7	DNAH2	Q9P225	424

IntAct

8 interactions, top by confidence:

A	B	Type	Score
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
Dlg4	DNAH7	psi-mi:“MI:0407”(direct interaction)	0.440
DNAH7	CKAP4	psi-mi:“MI:0915”(physical association)	0.400
YWHAH	SHTN1	psi-mi:“MI:0914”(association)	0.350
YWHAQ	SHTN1	psi-mi:“MI:0914”(association)	0.350
STARD7	DNAH7	psi-mi:“MI:0914”(association)	0.350
GABARAPL2	DNAH7	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (22): DNAH7 (Affinity Capture-MS), DNAH7 (Affinity Capture-MS), DNAH7 (Affinity Capture-MS), DNAH7 (Proximity Label-MS), DNAH7 (Proximity Label-MS), DNAH7 (Proximity Label-MS), DNAH7 (Affinity Capture-MS), DNAH7 (Proximity Label-MS), DNAH7 (Affinity Capture-MS), DNAH7 (Affinity Capture-MS), DNAH7 (Affinity Capture-MS), DNAH7 (Affinity Capture-MS), DNAH7 (Protein-peptide), DNAH7 (Reconstituted Complex), DNAH7 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GVH7, A2RRP1, D3YVL2, E9Q8T7, O55007, O88480, P0C6F1, P37276, P38650, Q0KK59, Q14204, Q3UHQ6, Q3UMB5, Q3V0Q1, Q4R7B1, Q5R414, Q5SQX6, Q5T0N1, Q5ZLS8, Q63164, Q63170, Q642P2, Q69Z23, Q6GYP7, Q6GYQ0, Q6ZR08, Q7L576, Q7TMB8, Q8BW94, Q8IVF4, Q8K2A7, Q8TD57, Q8TDY2, Q8TEV9, Q8WVF1, Q8WXX0, Q91XQ0, Q923J6, Q95LN2, Q96F07

Diamond homologs: E9Q8T7, F1SC07, M0R8U1, P0C6F1, P23098, P39057, Q39565, Q39575, Q39610, Q3V0Q1, Q63164, Q63170, Q69Z23, Q6ZR08, Q8BW94, Q8IVF4, Q8TD57, Q8TE73, Q8VHE6, Q8WXX0, Q91XQ0, Q923J6, Q96DT5, Q96JB1, Q9C0G6, Q9MBF8, Q9NYC9, Q9P225, Q9P2D7, Q9SMH3, Q9UFH2, P84753, O75369, P80197, P87061, Q2R2W1, Q5Z8K3, Q67UX0, Q7M3S9, Q80X90

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	8
Uncertain significance	638
Likely benign	71
Benign	51

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
375378	NM_018897.3(DNAH7):c.10753T>C (p.Phe3585Leu)	Pathogenic
4278008	NM_018897.3(DNAH7):c.4647+1G>A	Pathogenic
599649	NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser)	Pathogenic
4056355	NM_018897.3(DNAH7):c.3135dup (p.Ser1046fs)	Likely pathogenic
4277793	NM_018897.3(DNAH7):c.7045_7049delinsC (p.Ser2349fs)	Likely pathogenic
4279591	NM_018897.3(DNAH7):c.11869-2A>C	Likely pathogenic
4279638	NM_018897.3(DNAH7):c.870-1G>T	Likely pathogenic
4845224	NM_018897.3(DNAH7):c.6404dup (p.Leu2135fs)	Likely pathogenic
4845666	NM_018897.3(DNAH7):c.4309C>T (p.Arg1437Ter)	Likely pathogenic
4845708	NM_018897.3(DNAH7):c.5276G>A (p.Trp1759Ter)	Likely pathogenic
4845917	NM_018897.3(DNAH7):c.10799G>A (p.Trp3600Ter)	Likely pathogenic

SpliceAI

11221 predictions. Top by Δscore:

Variant	Effect	Δscore
2:195740867:CAC:C	acceptor_gain	1.0000
2:195740868:ACCTA:A	acceptor_loss	1.0000
2:195740869:CCTA:C	acceptor_loss	1.0000
2:195740870:C:CC	acceptor_gain	1.0000
2:195740871:T:C	acceptor_loss	1.0000
2:195756129:TTACC:T	donor_loss	1.0000
2:195756130:TACC:T	donor_loss	1.0000
2:195756131:ACC:A	donor_loss	1.0000
2:195756132:C:CG	donor_loss	1.0000
2:195756132:CCTG:C	donor_gain	1.0000
2:195756281:AGCCC:A	acceptor_gain	1.0000
2:195756282:GCCC:G	acceptor_gain	1.0000
2:195756283:CCC:C	acceptor_gain	1.0000
2:195756283:CCCC:C	acceptor_gain	1.0000
2:195756284:CC:C	acceptor_gain	1.0000
2:195756284:CCC:C	acceptor_gain	1.0000
2:195756285:CC:C	acceptor_gain	1.0000
2:195756286:C:CC	acceptor_gain	1.0000
2:195756286:CT:C	acceptor_loss	1.0000
2:195775891:AT:A	donor_gain	1.0000
2:195777795:CT:C	donor_loss	1.0000
2:195777796:TTA:T	donor_loss	1.0000
2:195777797:TACA:T	donor_loss	1.0000
2:195777798:A:AC	donor_gain	1.0000
2:195777798:ACAT:A	donor_gain	1.0000
2:195777799:C:CT	donor_gain	1.0000
2:195777799:CAT:C	donor_gain	1.0000
2:195777799:CATC:C	donor_gain	1.0000
2:195777799:CATCA:C	donor_gain	1.0000
2:195777984:TC:T	acceptor_gain	1.0000

AlphaMissense

26736 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:195738011:A:C	N3995K	0.999
2:195738011:A:T	N3995K	0.999
2:195754423:G:T	A3893D	0.999
2:195754431:C:A	Q3890H	0.999
2:195754431:C:G	Q3890H	0.999
2:195754461:G:C	F3880L	0.999
2:195754461:G:T	F3880L	0.999
2:195754463:A:G	F3880L	0.999
2:195777909:C:G	R3652P	0.999
2:195777912:T:A	D3651V	0.999
2:195777913:C:G	D3651H	0.999
2:195777936:C:T	G3643E	0.999
2:195777941:A:C	N3641K	0.999
2:195777941:A:T	N3641K	0.999
2:195787035:A:G	L3618P	0.999
2:195787046:G:C	S3614R	0.999
2:195787046:G:T	S3614R	0.999
2:195787048:T:G	S3614R	0.999
2:195787060:C:G	D3610H	0.999
2:195787070:G:C	F3606L	0.999
2:195787070:G:T	F3606L	0.999
2:195787072:A:G	F3606L	0.999
2:195787090:A:G	W3600R	0.999
2:195787090:A:T	W3600R	0.999
2:195787092:C:T	G3599E	0.999
2:195794488:A:C	S3522R	0.999
2:195794488:A:T	S3522R	0.999
2:195794490:T:G	S3522R	0.999
2:195794499:A:G	W3519R	0.999
2:195794499:A:T	W3519R	0.999

dbSNP variants (sampled 300 via entrez): RS1000021347 (2:195971384 T>C), RS1000022737 (2:196030325 T>G), RS1000022776 (2:195777353 C>G,T), RS1000023675 (2:195803003 A>C,G), RS1000034112 (2:195989147 T>C), RS1000051608 (2:196012374 A>G), RS1000053117 (2:195787271 T>C), RS1000055742 (2:195912963 G>C), RS1000074308 (2:195918727 C>G,T), RS1000075955 (2:195934090 C>T), RS1000081155 (2:195793268 G>C), RS1000085652 (2:195759010 G>A,C), RS1000114982 (2:195997405 G>A), RS1000115084 (2:196012974 G>A), RS1000115123 (2:195759176 C>CT)

Disease associations

OMIM: gene MIM:610061 | disease phenotypes: MIM:620356, MIM:608644, MIM:244400

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia	Strong	Autosomal recessive
ciliary dyskinesia, primary, 50	Limited	Autosomal recessive
male infertility with azoospermia or oligozoospermia due to single gene mutation	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
primary ciliary dyskinesia	Limited	AR

Mondo (5): ciliary dyskinesia, primary, 50 (MONDO:0957252), basal ganglia disorder (MONDO:0003996), primary ciliary dyskinesia 3 (MONDO:0012085), primary ciliary dyskinesia (MONDO:0016575), (MONDO:0018393)

Orphanet (2): Primary ciliary dyskinesia (Orphanet:244), Male infertility with azoospermia or oligozoospermia due to single gene mutation (Orphanet:399805)

HPO phenotypes

54 total (30 of 54 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000119	Abnormality of the genitourinary system
HP:0000238	Hydrocephalus
HP:0000365	Hearing impairment
HP:0000389	Chronic otitis media
HP:0000403	Recurrent otitis media
HP:0000405	Conductive hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000750	Delayed speech and language development
HP:0000924	Abnormality of the skeletal system
HP:0001217	Clubbing
HP:0001627	Abnormal heart morphology
HP:0001669	Transposition of the great arteries
HP:0001696	Situs inversus totalis
HP:0001719	Double outlet right ventricle
HP:0001742	Nasal congestion
HP:0001746	Asplenia
HP:0001748	Polysplenia
HP:0002011	Morphological central nervous system abnormality
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP: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
HP:0005425	Recurrent sinopulmonary infections
HP:0006536	Airway obstruction

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008750_3	Diastolic blood pressure	9.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D001480	Basal Ganglia Diseases	C10.228.140.079
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
C535278	Primary ciliary dyskinesia, 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	3
aristolochic acid I	decreases expression	1
propionaldehyde	increases expression	1
titanium dioxide	decreases expression	1
sodium arsenite	increases expression	1
aflatoxin B2	decreases methylation	1
coumarin	increases phosphorylation	1
CGP 52608	affects binding, increases reaction	1
jinfukang	affects cotreatment, decreases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Amiodarone	increases expression	1
Arbutin	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases mutagenesis	1
Cisplatin	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Folic Acid	decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

85 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01662414	PHASE4	COMPLETED	Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson’s Disease
NCT04871464	PHASE4	UNKNOWN	Role and Mechanism of Probiotics in Improving Motor Symptoms in Mild to Moderate Parkinson’s Disease
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
NCT03065192	PHASE1	COMPLETED	Safety and Efficacy Study of VY-AADC01 for Advanced Parkinson’s Disease
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