NME8

Summary

NME8 (NME/NM23 family member 8, HGNC:16473) is a protein-coding gene on chromosome 7p14.1, encoding Protein NME8 (Q8N427). Possesses an intrinsic kinase activity.

This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.

Source: NCBI Gene 51314 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 6
• Clinical variants (ClinVar): 489 total
• Phenotypes (HPO): 55
• MANE Select transcript: NM_016616

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16473
Approved symbol	NME8
Name	NME/NM23 family member 8
Location	7p14.1
Locus type	gene with protein product
Status	Approved
Aliases	CILD6, SPTRX2, NM23-H8, DNAI8
Ensembl gene	ENSG00000086288
Ensembl biotype	protein_coding
OMIM	607421
Entrez	51314

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000199447, ENST00000426106, ENST00000440017, ENST00000444718, ENST00000455500, ENST00000476435

RefSeq mRNA: 1 — MANE Select: NM_016616 NM_016616

CCDS: CCDS5452

Canonical transcript exons

ENST00000199447 — 18 exons

Exon	Start	End
ENSE00000460908	37864348	37864421
ENSE00000678188	37850629	37850735
ENSE00000678307	37862028	37862144
ENSE00000678371	37863396	37863462
ENSE00000678424	37865525	37865617
ENSE00000678428	37867702	37867898
ENSE00000678434	37876832	37877007
ENSE00000678485	37888277	37888428
ENSE00000678487	37894466	37894610
ENSE00000832408	37850260	37850299
ENSE00000832409	37850378	37850435
ENSE00000832410	37896870	37897107
ENSE00001241693	37848824	37849056
ENSE00001241700	37848597	37848728
ENSE00001923189	37900244	37900397
ENSE00003503507	37885145	37885252
ENSE00003552140	37857274	37857345
ENSE00003599676	37884303	37884447

Expression profiles

Bgee: expression breadth ubiquitous, 155 present calls, max score 92.17.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	92.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.59	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.35	gold quality
monocyte	CL:0000576	81.61	gold quality
leukocyte	CL:0000738	81.39	gold quality
mononuclear cell	CL:0000842	81.08	gold quality
right testis	UBERON:0004534	80.22	gold quality
left testis	UBERON:0004533	80.12	gold quality
sperm	CL:0000019	79.25	silver quality
blood	UBERON:0000178	78.26	gold quality
testis	UBERON:0000473	78.07	gold quality
bone marrow	UBERON:0002371	77.91	gold quality
male germ cell	CL:0000015	77.34	silver quality
bone marrow cell	CL:0002092	74.04	gold quality
spleen	UBERON:0002106	72.22	gold quality
trabecular bone tissue	UBERON:0002483	68.84	silver quality
C1 segment of cervical spinal cord	UBERON:0006469	66.20	gold quality
right uterine tube	UBERON:0001302	64.25	gold quality
right lung	UBERON:0002167	64.17	gold quality
spinal cord	UBERON:0002240	63.65	gold quality
right coronary artery	UBERON:0001625	63.31	gold quality
left uterine tube	UBERON:0001303	61.99	gold quality
upper lobe of left lung	UBERON:0008952	60.84	gold quality
gall bladder	UBERON:0002110	60.53	gold quality
tibial nerve	UBERON:0001323	59.90	gold quality
vermiform appendix	UBERON:0001154	59.84	gold quality
endocervix	UBERON:0000458	59.77	gold quality
upper lobe of lung	UBERON:0008948	59.16	gold quality
ectocervix	UBERON:0012249	58.52	gold quality
lymph node	UBERON:0000029	57.90	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting NME8, 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-6740-5P	100.00	65.64	932
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-6529-3P	98.68	66.76	1020
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-4691-5P	98.41	66.77	1343
HSA-MIR-6792-3P	98.41	66.86	1359
HSA-MIR-450A-2-3P	97.91	67.56	1459
HSA-MIR-758-5P	93.99	64.46	534

Literature-anchored findings (GeneRIF, showing 9)

• Our approach yielded 26 candidate genes differentially expressed between patients (Osteoarthritis) and controls. The presence of allelic imbalances confirms cis-regulatory mechanisms for RHOB and TXNDC3. (PMID:16642435)
• genetic association of RHOB and TXNDC3 with osteoarthritis was detected (PMID:17304710)
• Primary ciliary dyskinesia is caused by an SNP-induced modification of the ratio of two physiological isoforms of TXNDC3 generated by alternative splicing. (PMID:17360648)
• The minor allele frequencies of TXNDC3 in East Asian individuals are significantly different from those in United Kingdom control individuals. (PMID:18471322)
• NME8 locus polymorphism is associated with cognitive decline, cerebrospinal fluid and neuroimaging biomarkers in Alzheimer’s disease. (PMID:25486118)
• GPR141-NME8 locus had strong genetic effect on the susceptibility to generalized periodontitis in Japanese individuals with history of smoking. identified 2 suggestive loci for periodontitis in a Japanese population. (PMID:25672891)
• Studies suggest that the rs2718058 near gene NME8 on chromosome 7p14.1 might not play a major role in the genetic predisposition to late-onset Alzheimer’s disease (LOAD) in the North Han Chinese. (PMID:27144521)
• Addition of the minor allele for rs670139 (MS4A4E), rs9331896 (CLU), and rs12155159 (NME8) was nominally associated with change on the DWRT, DSST, and WFT, respectively, in whites. (PMID:27781389)
• Testis-Specific Thioredoxins TXNDC2, TXNDC3, and TXNDC6 Are Expressed in Both Testicular and Systemic DLBCL and Correlate with Clinical Disease Presentation. (PMID:33603952)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Nme8	ENSMUSG00000041138
rattus_norvegicus	Nme8	ENSRNOG00000058285

Paralogs (8): NME3 (ENSG00000103024), NME4 (ENSG00000103202), NME5 (ENSG00000112981), NME7 (ENSG00000143156), NME6 (ENSG00000172113), NME9 (ENSG00000181322), NME1 (ENSG00000239672), NME2 (ENSG00000243678)

Protein

Protein identifiers

Protein NME8 — Q8N427 (reviewed: Q8N427)

Alternative names: NM23-H8, NME/NM23 family member 8, Nucleoside diphosphate kinase 8, Protein kinase NME8, Putative 3’-5’-DNA exonuclease NDK8, Spermatid-specific thioredoxin-2, Thioredoxin domain-containing protein 3

All UniProt accessions (4): Q8N427, C9JG62, C9JIT0, F8WEA2

UniProt curated annotations — full annotation on UniProt →

Function. Possesses an intrinsic kinase activity. In vitro, does not exhibit nucleoside diphosphate kinase (NDPK) activity or disulfide bond-reducing activity. Additionally, exhibits a 3’-5’-DNA exonuclease activity that removes single nucleotides from the 3’ terminus of single-stranded DNA substrates and digests overhanging mismatched 3’ termini from double-stranded DNA substrates, suggesting a role in DNA nucleolytic processing. May be required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs.

Subunit / interactions. Monomer.

Subcellular location. Cytoplasm.

Tissue specificity. Testis-specific. Expressed only in primary spermatocytes and round spermatids.

Post-translational modifications. Undergoes autophosphorylation.

Disease relevance. Ciliary dyskinesia, primary, 6 (CILD6) [MIM:610852] 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.

Domain organisation. Contains 3 inactive NDK domains that do not possess all residues considered to be crucial for the NDPK activity.

Similarity. In the C-terminal section; belongs to the NDK family.

RefSeq proteins (1): NP_057700* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013766	Thioredoxin_domain	Domain
IPR017937	Thioredoxin_CS	Conserved_site
IPR034907	NDK-like_dom	Domain
IPR036249	Thioredoxin-like_sf	Homologous_superfamily
IPR036850	NDK-like_dom_sf	Homologous_superfamily
IPR051766	TXND_domain-containing	Family

Pfam: PF00085, PF00334

UniProt features (11 total): sequence variant 4, region of interest 4, chain 1, domain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N427-F1	79.81	0.31

Functional residue map

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

Disulfide bonds (1): 39–42

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 202 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GOMF_NUCLEASE_ACTIVITY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_MALE_GAMETE_GENERATION, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_DNA_CATABOLIC_PROCESS, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_ORGANELLE_ASSEMBLY, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_CELL_PROJECTION_ORGANIZATION, GOMF_EXONUCLEASE_ACTIVITY, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN

GO Biological Process (6): DNA catabolic process (GO:0006308), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), flagellated sperm motility (GO:0030317), cellular response to reactive oxygen species (GO:0034614), cilium assembly (GO:0060271)

GO Molecular Function (3): microtubule binding (GO:0008017), 3’-5’-DNA exonuclease activity (GO:0008296), hydrolase activity (GO:0016787)

GO Cellular Component (10): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), axoneme (GO:0005930), nuclear speck (GO:0016607), outer dynein arm (GO:0036157), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), sperm cytoplasmic droplet (GO:0097598), sperm flagellum (GO:0036126)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
sperm flagellum	2
DNA nuclease activity	1
DNA metabolic process	1
nucleic acid catabolic process	1
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
response to reactive oxygen species	1
cellular response to oxidative stress	1
cellular response to oxygen-containing compound	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
tubulin binding	1
3’-5’ exonuclease activity	1
DNA exonuclease activity, producing 5’-phosphomonoesters	1
catalytic activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
nuclear ribonucleoprotein granule	1
axonemal dynein complex	1
cytoplasmic vesicle	1
9+2 motile cilium	1

Protein interactions and networks

STRING

8282 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NME8	DNAI1	Q9UI46	939
NME8	DNAI2	Q9GZS0	933
NME8	DNAH5	Q8TE73	924
NME8	DNAH11	Q96DT5	910
NME8	RSPH4A	Q5TD94	904
NME8	RSPH9	Q9H1X1	897
NME8	DNAAF2	Q9NVR5	893
NME8	DNAAF1	Q8NEP3	877
NME8	ODAD1	Q96M63	799
NME8	CASS4	Q9NQ75	798
NME8	ZCWPW1	Q9H0M4	794
NME8	SLC24A4	Q8NFF2	785
NME8	ODAD3	A5D8V7	742
NME8	TXN	P10599	738
NME8	RIN3	Q8TB24	723

IntAct

13 interactions, top by confidence:

A	B	Type	Score
NME8	BACH1	psi-mi:“MI:0915”(physical association)	0.530
TRIM23	POTEB3	psi-mi:“MI:0914”(association)	0.530
IFT20	IFT56	psi-mi:“MI:0914”(association)	0.350
REPIN1		psi-mi:“MI:0914”(association)	0.350
POTEB3	POTEB	psi-mi:“MI:0914”(association)	0.350
REPIN1	POTEB	psi-mi:“MI:0914”(association)	0.350
TRIM23	POTEB	psi-mi:“MI:0914”(association)	0.350
VPS39	IL1R1	psi-mi:“MI:0914”(association)	0.350
NME8	IFT20	psi-mi:“MI:0915”(physical association)	0.000
BACH1	NME8	psi-mi:“MI:0915”(physical association)	0.000
NME8	TRAF3IP1	psi-mi:“MI:0915”(physical association)	0.000
NME8	IFT57	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (15): NME8 (Affinity Capture-MS), NME8 (Affinity Capture-MS), NME8 (Affinity Capture-MS), IFT20 (Affinity Capture-MS), IFT57 (Affinity Capture-MS), TRAF3IP1 (Affinity Capture-MS), NME8 (Reconstituted Complex), NME8 (Synthetic Lethality), NME8 (Affinity Capture-MS), NME8 (Affinity Capture-MS), NME8 (Affinity Capture-MS), NME8 (Cross-Linking-MS (XL-MS)), NME8 (Cross-Linking-MS (XL-MS)), PSMC6 (Cross-Linking-MS (XL-MS)), APP (Reconstituted Complex)

ESM2 similar proteins: A2ARP1, A2VD68, A7T167, A7Z050, B3DL53, B3M1E1, B3P4N5, B4GZ20, B4HJC0, B4KA23, B4LVS8, B4NKI9, B4PVH6, B4QVW6, O00746, O35552, O54820, O60361, O75414, O88425, O88426, P0C644, P34093, P56597, P78820, P87355, Q16875, Q1JQ92, Q29B63, Q5R9C1, Q66KP0, Q6DGQ8, Q6DI51, Q6NLG3, Q6PFW1, Q715S9, Q715T0, Q7JUX9, Q8N427, Q91YL3

Diamond homologs: A0A1L1SUL6, A1V4K4, A2S299, A3M207, A3MK78, A3NA57, A3NVX4, A4F9J8, A4G4J8, A4XY36, A5F3F7, A5IC43, A5UDJ8, A5UI22, A6Q200, A6SZX4, A6V0V6, A6VMK7, A7I3D2, A7MU38, A8ERJ2, A9HJV3, A9IK55, B0RT49, B0USF1, B0V4U1, B0VKS3, B2FNQ5, B2I3E1, B2SXT3, B3E3P0, B3PDL7, B4SSW2, B5FAW8, B7H073, B7I5G3, B7UWI4, B7VJT4, B8IZ74, B9MFX2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	265
Likely benign	135
Benign	65

Top pathogenic / likely-pathogenic (0)

SpliceAI

2959 predictions. Top by Δscore:

Variant	Effect	Δscore
7:37857341:GTGTT:G	donor_gain	1.0000
7:37857343:GTT:G	donor_gain	1.0000
7:37857346:G:GG	donor_gain	1.0000
7:37863394:A:AG	acceptor_gain	1.0000
7:37863395:G:GG	acceptor_gain	1.0000
7:37865479:A:AG	acceptor_gain	1.0000
7:37865479:AT:A	acceptor_gain	1.0000
7:37865479:ATGT:A	acceptor_gain	1.0000
7:37865480:T:G	acceptor_gain	1.0000
7:37865482:T:TA	acceptor_gain	1.0000
7:37876819:T:TA	acceptor_gain	1.0000
7:37876820:G:A	acceptor_gain	1.0000
7:37876827:GACA:G	acceptor_loss	1.0000
7:37876829:CAGT:C	acceptor_loss	1.0000
7:37876830:A:AG	acceptor_gain	1.0000
7:37876830:A:G	acceptor_loss	1.0000
7:37876831:G:GT	acceptor_gain	1.0000
7:37876831:GT:G	acceptor_gain	1.0000
7:37876831:GTTT:G	acceptor_gain	1.0000
7:37876831:GTTTA:G	acceptor_gain	1.0000
7:37877004:A:T	donor_gain	1.0000
7:37877004:AAAG:A	donor_loss	1.0000
7:37877005:AAG:A	donor_loss	1.0000
7:37877007:GGTA:G	donor_loss	1.0000
7:37877008:GTA:G	donor_loss	1.0000
7:37877009:T:A	donor_loss	1.0000
7:37884398:GAA:G	donor_gain	1.0000
7:37884410:G:GT	donor_gain	1.0000
7:37885248:GAGAG:G	donor_gain	1.0000
7:37888274:A:G	acceptor_gain	1.0000

AlphaMissense

3930 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:37850649:T:A	W38R	0.994
7:37850649:T:C	W38R	0.994
7:37896919:T:A	W532R	0.993
7:37896919:T:C	W532R	0.993
7:37850402:T:A	W20R	0.992
7:37850402:T:C	W20R	0.992
7:37850638:T:A	V34D	0.992
7:37850651:G:C	W38C	0.992
7:37850651:G:T	W38C	0.992
7:37857274:G:C	A67P	0.992
7:37857331:T:C	F86L	0.991
7:37857333:T:A	F86L	0.991
7:37857333:T:G	F86L	0.991
7:37857332:T:C	F86S	0.990
7:37862074:T:A	V106D	0.990
7:37857335:T:C	L87P	0.987
7:37850404:G:C	W20C	0.986
7:37850404:G:T	W20C	0.986
7:37850629:T:A	V31E	0.984
7:37857275:C:A	A67E	0.984
7:37850640:T:G	Y35D	0.983
7:37850661:T:C	C42R	0.983
7:37857338:T:C	F88S	0.983
7:37894498:T:C	F478L	0.981
7:37894500:T:A	F478L	0.981
7:37894500:T:G	F478L	0.981
7:37896955:G:C	A544P	0.981
7:37850430:T:C	L29S	0.979
7:37850728:T:C	F64S	0.979
7:37885194:T:A	W397R	0.979

dbSNP variants (sampled 300 via entrez): RS1000055522 (7:37877772 C>G,T), RS1000092304 (7:37883918 A>G), RS1000144526 (7:37883670 C>G,T), RS1000167688 (7:37854490 T>C), RS1000224134 (7:37862440 A>C), RS1000230649 (7:37894839 C>A), RS1000263236 (7:37865776 T>C), RS1000269984 (7:37848600 G>C), RS1000312734 (7:37896310 A>G), RS1000491966 (7:37873220 C>T), RS1000523822 (7:37895794 A>G), RS1000572955 (7:37896026 TAC>T,TACAC,TACACAC), RS1000644643 (7:37879254 T>G), RS1000780210 (7:37883439 T>C), RS1000813575 (7:37856884 A>C)

Disease associations

OMIM: gene MIM:607421 | disease phenotypes: MIM:610852, MIM:244400

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia	Supportive	Autosomal dominant
primary ciliary dyskinesia 6	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
primary ciliary dyskinesia	Disputed	AR

Mondo (2): primary ciliary dyskinesia 6 (MONDO:0012571), primary ciliary dyskinesia (MONDO:0016575)

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:0000246	Sinusitis
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:0002205	Recurrent respiratory infections
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0005301	Persistent left superior vena cava
HP:0005425	Recurrent sinopulmonary infections

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001482_18	Lumbar spine bone mineral density	6.000000e-13
GCST002245_2	Alzheimer’s disease (late onset)	5.000000e-09
GCST002781_2	Periodontitis	4.000000e-06
GCST007319_31	Alzheimer’s disease (late onset)	1.000000e-06
GCST009021_11	Alzheimer’s disease	2.000000e-06
GCST009391_2065	Metabolite levels	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010346	cholesteryl ester 18:3 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
C567057	Ciliary Dyskinesia, Primary, 6 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, affects cotreatment, increases expression	5
trichostatin A	affects cotreatment, increases expression	3
methylmercuric chloride	increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
belinostat	increases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
sodium arsenite	decreases 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, increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Amiodarone	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Ozone	affects expression, increases abundance	1
Tretinoin	increases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	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)