DNAH6

Summary

DNAH6 (dynein axonemal heavy chain 6, HGNC:2951) is a protein-coding gene on chromosome 2p11.2, encoding Dynein axonemal heavy chain 6 (Q9C0G6). Force generating protein of respiratory cilia.

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy.

Source: NCBI Gene 1768 — RefSeq curated summary.

At a glance

• Gene–disease (curated): spermatogenic failure (Strong, ClinGen) — +2 more curated relationships
• GWAS associations: 5
• Clinical variants (ClinVar): 774 total — 1 likely-pathogenic
• MANE Select transcript: NM_001370

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2951
Approved symbol	DNAH6
Name	dynein axonemal heavy chain 6
Location	2p11.2
Locus type	gene with protein product
Status	Approved
Aliases	Dnahc6, HL-2, FLJ37357
Ensembl gene	ENSG00000115423
Ensembl biotype	protein_coding
OMIM	603336
Entrez	1768

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 retained_intron, 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000389394, ENST00000468661, ENST00000476689, ENST00000494025, ENST00000602588

RefSeq mRNA: 1 — MANE Select: NM_001370 NM_001370

CCDS: CCDS46348

Canonical transcript exons

ENST00000389394 — 77 exons

Exon	Start	End
ENSE00000767062	84781493	84781653
ENSE00000767074	84785610	84785756
ENSE00000799766	84727669	84727902
ENSE00000799771	84787164	84787302
ENSE00001004443	84745080	84745249
ENSE00001004446	84784722	84784810
ENSE00001004447	84733444	84733579
ENSE00001282194	84796306	84796425
ENSE00001312418	84762755	84762945
ENSE00001313267	84722625	84722804
ENSE00001505736	84815861	84816083
ENSE00001505737	84813971	84814122
ENSE00001505738	84813058	84813130
ENSE00001505739	84812341	84812526
ENSE00001505740	84808415	84808542
ENSE00001505741	84805665	84805794
ENSE00001505742	84797537	84797658
ENSE00001532430	84819305	84819589
ENSE00001595760	84703395	84703562
ENSE00001601383	84654660	84654782
ENSE00001601488	84595646	84595789
ENSE00001602252	84604339	84604551
ENSE00001604186	84670328	84670475
ENSE00001607996	84677005	84677136
ENSE00001609444	84685326	84685472
ENSE00001609527	84611674	84611854
ENSE00001612515	84705486	84705747
ENSE00001630902	84706896	84707019
ENSE00001631234	84640430	84640578
ENSE00001636991	84715560	84715627
ENSE00001638703	84605500	84605592
ENSE00001638807	84621438	84621551
ENSE00001639151	84641947	84642054
ENSE00001644266	84704067	84704302
ENSE00001653096	84544233	84544500
ENSE00001658890	84659026	84659169
ENSE00001660358	84694249	84694480
ENSE00001663557	84688439	84688593
ENSE00001664252	84624465	84624620
ENSE00001667576	84681357	84681528
ENSE00001675487	84672327	84672484
ENSE00001676580	84669289	84669510
ENSE00001681506	84606976	84607095
ENSE00001691772	84658292	84658474
ENSE00001697211	84593972	84594085
ENSE00001698210	84710287	84710412
ENSE00001702658	84528904	84529166
ENSE00001703726	84588826	84588954
ENSE00001709017	84547492	84547612
ENSE00001710563	84583999	84584250
ENSE00001713753	84697575	84697727
ENSE00001716606	84686484	84686557
ENSE00001723585	84699594	84699734
ENSE00001748816	84637210	84637377
ENSE00001751618	84619685	84619904
ENSE00001754031	84653319	84653874
ENSE00001755269	84616886	84616982
ENSE00001759471	84701097	84701339
ENSE00001760306	84624902	84625063
ENSE00001761138	84634504	84634641
ENSE00001765731	84707520	84707716
ENSE00001766076	84713095	84713259
ENSE00001766723	84547268	84547402
ENSE00001771184	84624265	84624390
ENSE00001776794	84621191	84621355
ENSE00001795379	84718204	84718384
ENSE00001797958	84709343	84709546
ENSE00003464874	84525565	84525738
ENSE00003478202	84579527	84579679
ENSE00003482264	84517819	84518051
ENSE00003500161	84573467	84573587
ENSE00003582156	84549889	84550057
ENSE00003605609	84557735	84557935
ENSE00003638957	84548288	84548417
ENSE00003689990	84552918	84553034
ENSE00003693329	84577257	84577408
ENSE00003897818	84516498	84516583

Expression profiles

Bgee: expression breadth ubiquitous, 171 present calls, max score 94.48.

FANTOM5 (CAGE): breadth broad, TPM avg 1.9675 / max 151.8367, expressed in 326 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
21182	1.6256	286
21183	0.3419	121

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelium of bronchus	UBERON:0002031	94.48	gold quality
bronchial epithelial cell	CL:0002328	94.17	gold quality
bronchus	UBERON:0002185	93.13	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.86	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.03	gold quality
right uterine tube	UBERON:0001302	86.91	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.42	gold quality
epithelium of nasopharynx	UBERON:0001951	81.79	gold quality
diaphragm	UBERON:0001103	79.30	gold quality
nasal cavity epithelium	UBERON:0005384	78.96	silver quality
caput epididymis	UBERON:0004358	78.81	gold quality
nasal cavity mucosa	UBERON:0001826	76.41	gold quality
sperm	CL:0000019	75.74	gold quality
male germ cell	CL:0000015	75.54	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.53	gold quality
left testis	UBERON:0004533	75.05	gold quality
right testis	UBERON:0004534	74.15	gold quality
testis	UBERON:0000473	74.11	gold quality
choroid plexus epithelium	UBERON:0003911	73.51	gold quality
oviduct epithelium	UBERON:0004804	73.34	gold quality
fallopian tube	UBERON:0003889	72.74	gold quality
mucosa of urinary bladder	UBERON:0001259	71.08	gold quality
olfactory bulb	UBERON:0002264	71.05	gold quality
type B pancreatic cell	CL:0000169	70.89	gold quality
corpus callosum	UBERON:0002336	70.50	gold quality
ventricular zone	UBERON:0003053	69.55	gold quality
vastus lateralis	UBERON:0001379	69.35	gold quality
amniotic fluid	UBERON:0000173	68.55	gold quality
gingival epithelium	UBERON:0001949	68.44	gold quality
CA1 field of hippocampus	UBERON:0003881	68.29	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-83139	no	2.88
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting DNAH6, 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-539-5P	99.93	70.30	2855
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-888-5P	99.30	70.15	1855
HSA-MIR-6715B-3P	98.80	68.07	1204
HSA-MIR-1178-3P	98.57	67.09	890
HSA-MIR-3127-5P	97.52	65.24	786
HSA-MIR-12128	96.67	66.98	1471
HSA-MIR-3974	96.56	66.22	928

Literature-anchored findings (GeneRIF, showing 7)

• DNAH6 role in heterotaxy and primary ciliary dyskinesia:DNAH6 is required for motile cilia function mediating airway clearance (PMID:26918822)
• DNAH6 gene expression is down regulated in blood samples of HD patients. (PMID:29019003)
• Genetic variants within DNAH6, DNAH14, and DNAAF3 are associated with variation in lung function among persons with cystic fibrosis. (PMID:29323929)
• Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella. (PMID:31676830)
• A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia. (PMID:37424858)
• Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes. (PMID:37594300)
• 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

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnah6	ENSDARG00000000606
mus_musculus	Dnah6	ENSMUSG00000052861
rattus_norvegicus	Dnah6	ENSRNOG00000015581
drosophila_melanogaster	Dhc16F	FBGN0283476

Paralogs (15): DNAH9 (ENSG00000007174), DNAH5 (ENSG00000039139), DNAH11 (ENSG00000105877), DNAH1 (ENSG00000114841), DNAH7 (ENSG00000118997), 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 6 — Q9C0G6 (reviewed: Q9C0G6)

Alternative names: Axonemal beta dynein heavy chain 6, Ciliary dynein heavy chain 6

All UniProt accessions (1): Q9C0G6

UniProt curated annotations — full annotation on UniProt →

Function. Force generating protein of respiratory cilia. 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. Expressed in several tissues, including brain, pituitary, testis and trachea, with highest levels in testis.

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.

Similarity. Belongs to the dynein heavy chain family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9C0G6-1	1	yes
Q9C0G6-2	2
Q9C0G6-3	3
Q9C0G6-4	4

RefSeq proteins (1): NP_001361* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003593	AAA+_ATPase	Domain
IPR004273	Dhc_D6_P-loop	Domain
IPR013602	Dhc_linker	Domain
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 (31 total): splice variant 9, region of interest 8, binding site 5, sequence conflict 5, coiled-coil region 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

No AlphaFold model available for Q9C0G6 — 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): 192–199; 1472–1479; 1753–1760; 2096–2103; 2447–2454

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 88 (showing top): MODULE_205, GOBP_CILIUM_MOVEMENT, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, chr2p11, MODULE_397, P53_DECAMER_Q2, ISRE_01, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_DYNEIN_COMPLEX, GOCC_CILIUM, YOSHIMURA_MAPK8_TARGETS_UP, GOMF_MICROTUBULE_MOTOR_ACTIVITY, P53_02

GO Biological Process (2): cilium movement involved in cell motility (GO:0060294), microtubule-based movement (GO:0007018)

GO Molecular Function (6): 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 (8): microtubule (GO:0005874), axoneme (GO:0005930), dynein complex (GO:0030286), 9+2 motile cilium (GO:0097729), 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	3
protein binding	2
cilium movement	1
cell motility	1
cilium-dependent cell motility	1
microtubule-based process	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
ATP-dependent activity	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
microtubule associated complex	1
catalytic 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
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

1347 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAH6	DNAH12	Q6ZR08	953
DNAH6	TTC29	Q8NA56	599
DNAH6	DNAI1	Q9UI46	598
DNAH6	AK7	Q96M32	574
DNAH6	CFAP70	Q5T0N1	572
DNAH6	TTC21A	Q8NDW8	567
DNAH6	CFAP43	Q8NDM7	552
DNAH6	CFAP251	Q8TBY9	546
DNAH6	QRICH2	Q9H0J4	545
DNAH6	CEP135	Q66GS9	541
DNAH6	CFAP44	Q96MT7	519
DNAH6	ARMC2	Q8NEN0	518
DNAH6	WDR19	Q8NEZ3	510
DNAH6	CFAP69	A5D8W1	507
DNAH6	SPEF2	Q9C093	505

IntAct

8 interactions, top by confidence:

A	B	Type	Score
DNAH6	CORO1C	psi-mi:“MI:0915”(physical association)	0.400
DNAH6	SPTAN1	psi-mi:“MI:0915”(physical association)	0.400
DNAH6	RPL21	psi-mi:“MI:0915”(physical association)	0.400
DNAH6	HK1	psi-mi:“MI:0915”(physical association)	0.400
SLC26A11	DNAH6	psi-mi:“MI:0915”(physical association)	0.400
BMI1	MEIS3P1	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

BioGRID (40): DNAH6 (Biochemical Activity), DNAH6 (Affinity Capture-MS), DNAH6 (Proximity Label-MS), DNAH6 (Proximity Label-MS), DNAH6 (Proximity Label-MS), CORO1C (Proximity Label-MS), DNAH6 (Affinity Capture-RNA), DNAH6 (Affinity Capture-MS), HNRNPA2B1 (Cross-Linking-MS (XL-MS)), HNRNPA3 (Cross-Linking-MS (XL-MS)), HIST1H2BH (Cross-Linking-MS (XL-MS)), PI4KB (Cross-Linking-MS (XL-MS)), H1FX (Cross-Linking-MS (XL-MS)), H2AFX (Cross-Linking-MS (XL-MS)), HNRNPA3 (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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	536
Likely benign	48
Benign	156

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3065450	NM_001370.2(DNAH6):c.10723G>A (p.Gly3575Arg)	Likely pathogenic

SpliceAI

11540 predictions. Top by Δscore:

Variant	Effect	Δscore
2:84525561:A:AG	acceptor_gain	1.0000
2:84525563:A:AG	acceptor_gain	1.0000
2:84525564:G:GG	acceptor_gain	1.0000
2:84525564:GCCA:G	acceptor_gain	1.0000
2:84547267:GC:G	acceptor_gain	1.0000
2:84549886:A:AG	acceptor_gain	1.0000
2:84549887:A:AG	acceptor_gain	1.0000
2:84549888:G:GG	acceptor_gain	1.0000
2:84593961:C:G	acceptor_gain	1.0000
2:84593962:A:AG	acceptor_gain	1.0000
2:84593963:T:G	acceptor_gain	1.0000
2:84593968:A:AG	acceptor_gain	1.0000
2:84594080:TTAA:T	donor_gain	1.0000
2:84594081:TAAAG:T	donor_loss	1.0000
2:84594082:AAAGG:A	donor_loss	1.0000
2:84594084:AGGT:A	donor_loss	1.0000
2:84594087:T:G	donor_loss	1.0000
2:84595633:A:AG	acceptor_gain	1.0000
2:84595634:A:AG	acceptor_gain	1.0000
2:84595642:A:AG	acceptor_gain	1.0000
2:84595643:T:G	acceptor_gain	1.0000
2:84595644:A:AG	acceptor_gain	1.0000
2:84595645:G:GA	acceptor_gain	1.0000
2:84595645:GT:G	acceptor_gain	1.0000
2:84595645:GTC:G	acceptor_gain	1.0000
2:84595645:GTCC:G	acceptor_gain	1.0000
2:84595645:GTCCA:G	acceptor_gain	1.0000
2:84595787:AAG:A	donor_loss	1.0000
2:84595788:AGGTA:A	donor_loss	1.0000
2:84595789:GGTAA:G	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000006688 (2:84553634 T>G), RS1000015096 (2:84647724 C>T), RS1000030465 (2:84738527 A>G,T), RS1000043962 (2:84693589 A>G), RS1000050709 (2:84786264 A>G), RS1000052182 (2:84707999 C>T), RS1000069379 (2:84460515 CATG>C), RS1000078043 (2:84549713 A>C,G), RS1000082021 (2:84639145 T>G), RS1000084551 (2:84459246 G>A,C,T), RS1000091788 (2:84597574 G>A), RS1000094657 (2:84581581 TAA>T), RS1000098744 (2:84781500 T>A,C), RS1000101834 (2:84503715 G>A), RS1000119092 (2:84787981 G>A,T)

Disease associations

OMIM: gene MIM:603336 | disease phenotypes: MIM:618801, MIM:258150

GenCC curated gene-disease

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

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
primary ciliary dyskinesia	Disputed	AR
spermatogenic failure	Strong	AR

Mondo (5): ciliary dyskinesia, primary, 45 (MONDO:0032924), spermatogenic failure (MONDO:0004983), primary ovarian failure (MONDO:0005387), primary ciliary dyskinesia (MONDO:0016575), (MONDO:0018393)

Orphanet (2): Situs ambiguus (Orphanet:157769), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002563_4	Hypospadias	4.000000e-09
GCST003815_116	Late-onset Alzheimer’s disease	5.000000e-06
GCST005231_25	Major depressive disorder	2.000000e-06
GCST009391_1123	Metabolite levels	5.000000e-06
GCST011438_9	Glaucoma (primary open-angle)	3.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:1001870	late-onset Alzheimers disease
EFO:0010523	phosphoglyceric acid 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
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
Tobacco Smoke Pollution	decreases expression	2
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
2,3-pentanedione	decreases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
aflatoxin B2	increases methylation	1
perfluoro-n-nonanoic acid	increases expression	1
perfluorohexanesulfonic acid	increases expression	1
abrine	increases expression	1
bisphenol S	increases methylation	1
(+)-JQ1 compound	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Diacetyl	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Smoke	increases abundance, increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	affects methylation	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
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
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
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
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
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