AK7

Summary

AK7 (adenylate kinase 7, HGNC:20091) is a protein-coding gene on chromosome 14q32.2, encoding Adenylate kinase 7 (Q96M32). Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates.

This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia.

Source: NCBI Gene 122481 — RefSeq curated summary.

At a glance

• Gene–disease (curated): non-syndromic male infertility due to sperm motility disorder (Supportive, GenCC) — +3 more curated relationships
• GWAS associations: 4
• Clinical variants (ClinVar): 468 total — 3 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 8
• MANE Select transcript: NM_152327

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20091
Approved symbol	AK7
Name	adenylate kinase 7
Location	14q32.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32864, FAP75, CFAP75
Ensembl gene	ENSG00000140057
Ensembl biotype	protein_coding
OMIM	615364
Entrez	122481

Gene structure

Transcript identifiers

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

ENST00000267584, ENST00000554313, ENST00000554706, ENST00000555570, ENST00000556643, ENST00000856701, ENST00000856702, ENST00000856703, ENST00000856704, ENST00000856705, ENST00000856706, ENST00000856707, ENST00000856708

RefSeq mRNA: 5 — MANE Select: NM_152327 NM_001350888, NM_001350890, NM_001350891, NM_001350892, NM_152327

CCDS: CCDS9945

Canonical transcript exons

ENST00000267584 — 18 exons

Exon	Start	End
ENSE00000870327	96478465	96478662
ENSE00000870328	96482999	96483219
ENSE00000941210	96442730	96442818
ENSE00000941211	96446517	96446607
ENSE00000941212	96451421	96451570
ENSE00000941213	96456347	96456475
ENSE00001011323	96472687	96472755
ENSE00001093865	96471478	96471606
ENSE00001093874	96437835	96437915
ENSE00001093877	96449802	96449879
ENSE00001175774	96392128	96392259
ENSE00001269055	96486898	96487056
ENSE00001310452	96458083	96458212
ENSE00001365345	96488305	96489427
ENSE00003500787	96398075	96398263
ENSE00003608146	96420822	96420932
ENSE00003622571	96408847	96408941
ENSE00003635028	96404757	96404865

Expression profiles

Bgee: expression breadth ubiquitous, 168 present calls, max score 95.75.

FANTOM5 (CAGE): breadth broad, TPM avg 2.0714 / max 58.5584, expressed in 787 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141340	1.6858	695
141339	0.3766	201
141343	0.0090	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	95.75	gold quality
bronchus	UBERON:0002185	94.25	gold quality
right uterine tube	UBERON:0001302	92.13	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.31	gold quality
epithelium of nasopharynx	UBERON:0001951	86.46	gold quality
mucosa of paranasal sinus	UBERON:0005030	86.03	gold quality
caput epididymis	UBERON:0004358	85.06	gold quality
pancreatic ductal cell	CL:0002079	83.04	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.72	gold quality
islet of Langerhans	UBERON:0000006	80.22	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.17	gold quality
fallopian tube	UBERON:0003889	76.75	gold quality
oviduct epithelium	UBERON:0004804	75.74	gold quality
buccal mucosa cell	CL:0002336	74.25	silver quality
skin of leg	UBERON:0001511	73.61	gold quality
skin of abdomen	UBERON:0001416	72.95	gold quality
nasal cavity mucosa	UBERON:0001826	72.92	gold quality
adenohypophysis	UBERON:0002196	72.79	gold quality
pituitary gland	UBERON:0000007	72.78	gold quality
zone of skin	UBERON:0000014	72.02	gold quality
ventricular zone	UBERON:0003053	71.31	gold quality
hypothalamus	UBERON:0001898	71.22	gold quality
right testis	UBERON:0004534	71.17	gold quality
left testis	UBERON:0004533	70.70	gold quality
testis	UBERON:0000473	70.58	gold quality
right adrenal gland	UBERON:0001233	70.11	gold quality
right adrenal gland cortex	UBERON:0035827	69.95	gold quality
gall bladder	UBERON:0002110	69.48	gold quality
mucosa of transverse colon	UBERON:0004991	69.34	gold quality
pancreas	UBERON:0001264	68.93	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 6)

• expression is decreased in patients with primary ciliary dyskinesia and is correlated with ciliary beat frequency of nasal epithelium cellsepithelium (PMID:20537283)
• Both AK7 and full-length AK8 showed highest affinity for AMP with ATP as the phosphate donor, and proved to be more efficient in AMP phosphorylation as compared with the major cytosolic isoform AK1 (PMID:21080915)
• AK7 may be involved in the development of Primary ciliary dyskinesia (PCD). (PMID:22801010)
• a novel genetic cause of asthenozoospermia due to MMAF and suggests that in humans, more deleterious mutations of AK7 might induce primary ciliary dyskinesia. (PMID:29365104)
• The mRNA and protein expressions of AK1, AK6 and AK7 are significantly down-regulated in the sperm of asthenospermia patients, which may be closely related with reduced sperm motility. (PMID:32251557)
• A novel homozygous nonsense variant of AK7 is associated with multiple morphological abnormalities of the sperm flagella. (PMID:38492416)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ak7b	ENSDARG00000017023
danio_rerio	ak7a	ENSDARG00000019001
mus_musculus	Ak7	ENSMUSG00000041323
rattus_norvegicus	Ak7	ENSRNOG00000055714
drosophila_melanogaster	CG9541	FBGN0032083
caenorhabditis_elegans		WBGENE00008746

Paralogs (9): AK2 (ENSG00000004455), AK1 (ENSG00000106992), AK3 (ENSG00000147853), AK5 (ENSG00000154027), AK9 (ENSG00000155085), CMPK1 (ENSG00000162368), AK4 (ENSG00000162433), AK8 (ENSG00000165695), AK4P3 (ENSG00000233381)

Protein

Protein identifiers

Adenylate kinase 7 — Q96M32 (reviewed: Q96M32)

Alternative names: ATP-AMP transphosphorylase 7

All UniProt accessions (3): Q96M32, G3V365, H0YIY5

UniProt curated annotations — full annotation on UniProt →

Function. Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity. Involved in maintaining ciliary structure and function.

Subcellular location. Cytoplasm. Cytosol. Cell projection. Cilium. Flagellum.

Tissue specificity. Expressed in sperm and airway epithelial cells (at protein level).

Disease relevance. Spermatogenic failure 27 (SPGF27) [MIM:617965] An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the sperm flagella, including short, irregular, coiled, or absent flagella. The disease is caused by variants affecting the gene represented in this entry.

Similarity. In the central section; belongs to the adenylate kinase family. In the C-terminal section; belongs to the dpy-30 family.

RefSeq proteins (5): NP_001337817, NP_001337819, NP_001337820, NP_001337821, NP_689540* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000850	Adenylat/UMP-CMP_kin	Family
IPR007858	Dpy-30_motif	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily
IPR047499	DD_AK7	Domain

Pfam: PF00406, PF05186

Enzyme classification (BRENDA):

• EC 2.7.4.3 — adenylate kinase (BRENDA: 73 organisms, 259 substrates, 134 inhibitors, 192 Km, 47 kcat entries)

Substrate kinetics (BRENDA)

9 substrates with measured Km, best-characterized 9. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
AMP	0.0014–1.9	59
ATP	0.0001–7	58
ADP	0.003–16.8	27
2 ADP	0.006–0.15	5
DAMP	0.507–2	2
2’-DAMP	0.85	1
7-DEAZAADENOSINE 5’-MONOPHOSPHATE	0.73	1
ADP3-	0.03	1
CMP	0.0002	1

Catalyzed reactions (Rhea), 3 shown:

• AMP + ATP = 2 ADP (RHEA:12973)
• a ribonucleoside 5’-diphosphate + ATP = a ribonucleoside 5’-triphosphate + ADP (RHEA:18113)
• a 2’-deoxyribonucleoside 5’-diphosphate + ATP = a 2’-deoxyribonucleoside 5’-triphosphate + ADP (RHEA:44640)

UniProt features (18 total): binding site 6, region of interest 4, sequence variant 3, sequence conflict 2, coiled-coil region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96M32-F1	82.35	0.37

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 (6): 489; 555; 587; 377–382; 432–455; 482–485

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-499943	Interconversion of nucleotide di- and triphosphates
R-HSA-1430728	Metabolism
R-HSA-15869	Metabolism of nucleotides

MSigDB gene sets: 133 (showing top): BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, KEGG_PURINE_METABOLISM, GOBP_NUCLEOSIDE_MONOPHOSPHATE_METABOLIC_PROCESS, GOBP_CELL_PROJECTION_ORGANIZATION, chr14q32, GOCC_MOTILE_CILIUM, GOCC_SPERM_PRINCIPAL_PIECE, GOCC_CILIUM, BOYLAN_MULTIPLE_MYELOMA_C_CLUSTER_DN, GOMF_NUCLEOSIDE_DIPHOSPHATE_KINASE_ACTIVITY

GO Biological Process (5): cell projection organization (GO:0030030), nucleobase-containing compound metabolic process (GO:0006139), nucleotide metabolic process (GO:0009117), nucleoside monophosphate metabolic process (GO:0009123), nucleoside monophosphate phosphorylation (GO:0046940)

GO Molecular Function (9): AMP kinase activity (GO:0004017), nucleoside diphosphate kinase activity (GO:0004550), ATP binding (GO:0005524), dCMP kinase activity (GO:0036431), nucleotide binding (GO:0000166), kinase activity (GO:0016301), transferase activity (GO:0016740), phosphotransferase activity, phosphate group as acceptor (GO:0016776), nucleobase-containing compound kinase activity (GO:0019205)

GO Cellular Component (6): cytoplasm (GO:0005737), cytosol (GO:0005829), sperm principal piece (GO:0097228), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of nucleotides	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
nucleoside phosphate metabolic process	2
transferase activity, transferring phosphorus-containing groups	2
cellular component organization	1
primary metabolic process	1
nucleoside monophosphate metabolic process	1
nucleotide biosynthetic process	1
nucleoside monophosphate kinase activity	1
phosphotransferase activity, phosphate group as acceptor	1
nucleobase-containing compound kinase activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
deoxynucleoside phosphate kinase activity, ATP as phosphate donor	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
kinase activity	1
intracellular anatomical structure	1
cytoplasm	1
sperm flagellum	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

3039 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AK7	AK8	Q96MA6	812
AK7	AK1	P00568	750
AK7	AK5	Q9Y6K8	735
AK7	AK3	Q9UIJ7	692
AK7	AK4	P27144	664
AK7	SIRT2	Q8IXJ6	602
AK7	CFAP69	A5D8W1	583
AK7	DNAH6	Q9C0G6	574
AK7	DNAH17	Q9UFH2	574
AK7	DPCD	Q9BVM2	568
AK7	CFAP43	Q8NDM7	556
AK7	ARMC2	Q8NEN0	554
AK7	CEP135	Q66GS9	543
AK7	TTC29	Q8NA56	543
AK7	QRICH2	Q9H0J4	538

IntAct

3 interactions, top by confidence:

A	B	Type	Score
ASH2L	KMT2D	psi-mi:“MI:0914”(association)	0.890
AK7	ZC3H14	psi-mi:“MI:0914”(association)	0.350

BioGRID (12): TNPO3 (Affinity Capture-MS), GPKOW (Affinity Capture-MS), MUC13 (Affinity Capture-MS), ZC3H14 (Affinity Capture-MS), AK7 (Affinity Capture-MS), AK7 (Affinity Capture-MS), AK7 (Affinity Capture-MS), AK7 (Affinity Capture-RNA), AK7 (Proximity Label-MS), AK7 (Proximity Label-MS), AK7 (Proximity Label-MS), AK7 (Proximity Label-MS)

ESM2 similar proteins: A3KMX7, A5PKL6, F1MKX4, F1R2X6, F4IVI0, O94952, P35574, P42700, P51398, P97259, Q08834, Q09328, Q14997, Q2TBQ7, Q2TBU5, Q3U1V6, Q3V3E1, Q498D5, Q4R6Y8, Q5F204, Q5I0G3, Q5IH13, Q5IH14, Q5R5S1, Q5R7E8, Q5RL51, Q5SSW2, Q6IQC7, Q6NRP2, Q6NTT6, Q6P2P2, Q6YXW6, Q8BGG7, Q8C5P5, Q8CEL2, Q8N1I0, Q8NEC7, Q8NHU2, Q8R4G6, Q8TB36

Diamond homologs: O74861, Q10661, Q2NKU6, Q8K3E7, Q95JP6, Q96M32, Q99LT0, Q9C005, Q9D2H2, Q9VKQ9, P56597, Q99MH5, B0TC77, B2A4G2, B3QS41, Q6DGQ8, Q6FD71, Q73NP0, Q8XHU4, C5CGI1, O29581, Q0SQG5, Q0TMR7, B1I3R5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	2
Uncertain significance	237
Likely benign	177
Benign	27

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1340262	GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1	Pathogenic
3391923	GRCh37/hg19 14q31.1-32.2(chr14:79886061-96870809)x1	Pathogenic
564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	Pathogenic
1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	Likely pathogenic
4845715	NM_152327.5(AK7):c.690+1G>T	Likely pathogenic

SpliceAI

3737 predictions. Top by Δscore:

Variant	Effect	Δscore
14:96392257:A:T	donor_gain	1.0000
14:96392257:AAGG:A	donor_loss	1.0000
14:96392258:AGG:A	donor_loss	1.0000
14:96392259:GGTGA:G	donor_loss	1.0000
14:96392260:GTG:G	donor_loss	1.0000
14:96392261:T:A	donor_loss	1.0000
14:96398264:G:GG	donor_gain	1.0000
14:96404844:G:GT	donor_gain	1.0000
14:96404869:A:AG	donor_gain	1.0000
14:96404870:G:GG	donor_gain	1.0000
14:96408845:A:AG	acceptor_gain	1.0000
14:96408846:G:GG	acceptor_gain	1.0000
14:96408942:G:GG	donor_gain	1.0000
14:96420815:A:AG	acceptor_gain	1.0000
14:96420816:T:G	acceptor_gain	1.0000
14:96420817:A:AG	acceptor_gain	1.0000
14:96420817:AATAG:A	acceptor_gain	1.0000
14:96420818:A:G	acceptor_gain	1.0000
14:96420820:AGG:A	acceptor_loss	1.0000
14:96420820:AGGAG:A	acceptor_gain	1.0000
14:96420821:G:A	acceptor_loss	1.0000
14:96420821:GGA:G	acceptor_gain	1.0000
14:96420821:GGAGG:G	acceptor_gain	1.0000
14:96420929:AAAG:A	donor_gain	1.0000
14:96420929:AAAGG:A	donor_loss	1.0000
14:96420930:AAGG:A	donor_loss	1.0000
14:96420931:AG:A	donor_gain	1.0000
14:96420931:AGGTA:A	donor_loss	1.0000
14:96420932:GG:G	donor_gain	1.0000
14:96420933:G:GA	donor_loss	1.0000

AlphaMissense

4799 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:96420866:A:C	R181S	0.998
14:96420866:A:T	R181S	0.998
14:96420865:G:C	R181T	0.997
14:96442812:T:C	L258P	0.995
14:96437860:T:A	V212D	0.994
14:96446567:C:A	A277D	0.994
14:96408915:T:A	W158R	0.992
14:96408915:T:C	W158R	0.992
14:96451496:T:A	W342R	0.992
14:96451496:T:C	W342R	0.992
14:96471549:G:C	G477R	0.992
14:96408901:C:G	S153W	0.991
14:96471588:G:C	A490P	0.991
14:96398079:T:C	L37P	0.990
14:96420904:A:T	E194V	0.990
14:96437869:G:A	G215E	0.990
14:96442736:T:A	W233R	0.990
14:96442736:T:C	W233R	0.990
14:96471550:G:A	G477D	0.990
14:96398208:G:A	G80D	0.989
14:96420865:G:T	R181I	0.989
14:96420905:A:C	E194D	0.989
14:96420905:A:T	E194D	0.989
14:96486998:T:C	L692P	0.989
14:96398207:G:C	G80R	0.988
14:96408889:T:C	F149S	0.988
14:96488305:G:C	A712P	0.988
14:96392216:T:C	F21S	0.987
14:96404788:T:C	L109P	0.987
14:96404796:T:C	C112R	0.987

dbSNP variants (sampled 300 via entrez): RS1000022206 (14:96394567 A>C), RS1000030455 (14:96394285 A>G), RS1000058204 (14:96454341 G>A), RS1000063346 (14:96425147 T>C), RS1000099411 (14:96436676 T>C), RS1000103121 (14:96477778 T>C), RS1000130851 (14:96418964 C>T), RS1000136476 (14:96394813 T>G), RS1000162463 (14:96420889 A>G), RS1000163396 (14:96483386 A>G), RS1000235104 (14:96462007 C>A,T), RS1000243310 (14:96400271 C>A), RS1000252326 (14:96455486 A>G), RS1000262403 (14:96466335 C>A), RS1000279011 (14:96460157 A>G)

Disease associations

OMIM: gene MIM:615364 | disease phenotypes: MIM:617965, MIM:244400

GenCC curated gene-disease

Disease	Classification	Inheritance
non-syndromic male infertility due to sperm motility disorder	Supportive	Autosomal recessive
primary ciliary dyskinesia	Limited	Autosomal recessive
spermatogenic failure 27	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (2)

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

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

Mondo (3): spermatogenic failure 27 (MONDO:0054731), primary ciliary dyskinesia (MONDO:0016575), (MONDO:0017173)

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

HPO phenotypes

8 total (8 of 8 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0003251	Male infertility
HP:0011462	Young adult onset
HP:0012207	Reduced sperm motility
HP:0032558	Absent sperm flagella
HP:0032559	Short sperm flagella
HP:0032560	Coiled sperm flagella
HP:0033525	Absent sperm axoneme central pair complex

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST008157_51	Body fat mass	2.000000e-06
GCST009391_748	Metabolite levels	8.000000e-07
GCST010796_5098	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST90006998_10	Gut microbiota relative abundance (Dorea)	7.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0010390	sphingomyelin 14:0 measurement
EFO:0004327	electrocardiography
EFO:0007874	gut microbiome measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	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
aristolochic acid I	decreases expression	1
bisphenol A	decreases expression	1
deoxynivalenol	decreases expression	1
trichostatin A	increases expression	1
beta-lapachone	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
2-palmitoylglycerol	increases expression	1
entinostat	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
belinostat	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Vorinostat	increases expression	1
Benzo(a)pyrene	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Okadaic Acid	decreases expression	1
Particulate Matter	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A9N7	GIST-R5	Cancer cell line

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)