TTC12

Summary

TTC12 (tetratricopeptide repeat domain 12, HGNC:23700) is a protein-coding gene on chromosome 11q23.2, encoding Tetratricopeptide repeat protein 12 (Q9H892). Cytoplasmic protein that plays a role in the proper assembly of dynein arm complexes in motile cilia in both respiratory cells and sperm flagella.

Involved in axonemal dynein complex assembly and sperm axoneme assembly. Located in several cellular components, including centrosome; cytosol; and nuclear membrane. Implicated in acute lymphoblastic leukemia; alcohol dependence; drug dependence (multiple); nicotine dependence; and primary ciliary dyskinesia 45.

Source: NCBI Gene 54970 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliary dyskinesia, primary, 45 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 11
• Clinical variants (ClinVar): 159 total — 6 pathogenic
• Phenotypes (HPO): 51
• MANE Select transcript: NM_017868

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23700
Approved symbol	TTC12
Name	tetratricopeptide repeat domain 12
Location	11q23.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13859, FLJ20535, TPARM
Ensembl gene	ENSG00000149292
Ensembl biotype	protein_coding
OMIM	610732
Entrez	54970

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 19 protein_coding, 5 retained_intron, 4 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000314756, ENST00000393020, ENST00000429951, ENST00000442859, ENST00000455306, ENST00000462711, ENST00000464224, ENST00000478125, ENST00000480233, ENST00000483239, ENST00000489064, ENST00000494714, ENST00000496311, ENST00000524580, ENST00000525965, ENST00000525989, ENST00000527362, ENST00000527781, ENST00000529221, ENST00000529850, ENST00000531164, ENST00000534793, ENST00000880107, ENST00000880108, ENST00000880109, ENST00000880110, ENST00000880111, ENST00000880112, ENST00000945023, ENST00000945024

RefSeq mRNA: 6 — MANE Select: NM_017868 NM_001318533, NM_001352037, NM_001378063, NM_001378064, NM_001378065, NM_017868

CCDS: CCDS81627, CCDS8360

Canonical transcript exons

ENST00000529221 — 22 exons

Exon	Start	End
ENSE00000989798	113325524	113325645
ENSE00001547857	113314583	113314618
ENSE00003480724	113334966	113335037
ENSE00003497428	113323288	113323451
ENSE00003497588	113344272	113344440
ENSE00003499481	113350073	113350165
ENSE00003507875	113351239	113351299
ENSE00003531255	113359940	113360008
ENSE00003533752	113366225	113366387
ENSE00003534909	113363828	113363927
ENSE00003537382	113338774	113338834
ENSE00003548827	113352070	113352207
ENSE00003570504	113339286	113339474
ENSE00003576791	113341837	113341925
ENSE00003579140	113359363	113359461
ENSE00003597214	113364835	113365060
ENSE00003618477	113329920	113329979
ENSE00003639882	113362401	113362502
ENSE00003673065	113323994	113324015
ENSE00003674999	113316243	113316315
ENSE00003784234	113324605	113324682
ENSE00003790887	113340664	113340733

Expression profiles

Bgee: expression breadth ubiquitous, 223 present calls, max score 95.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.1853 / max 129.0103, expressed in 1613 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116752	6.4838	1591
116751	0.3224	157
116753	0.2117	87
116756	0.0584	5
116754	0.0505	12
116755	0.0361	5
116757	0.0184	3
116758	0.0041	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	95.36	gold quality
left testis	UBERON:0004533	94.53	gold quality
right uterine tube	UBERON:0001302	94.52	gold quality
right testis	UBERON:0004534	94.25	gold quality
male germ cell	CL:0000015	94.13	gold quality
sural nerve	UBERON:0015488	93.41	gold quality
testis	UBERON:0000473	93.01	gold quality
calcaneal tendon	UBERON:0003701	91.84	gold quality
adenohypophysis	UBERON:0002196	91.72	gold quality
bronchial epithelial cell	CL:0002328	90.97	gold quality
epithelium of bronchus	UBERON:0002031	90.88	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.88	gold quality
left lobe of thyroid gland	UBERON:0001120	90.72	gold quality
pituitary gland	UBERON:0000007	90.05	gold quality
right lobe of thyroid gland	UBERON:0001119	89.96	gold quality
bronchus	UBERON:0002185	89.86	gold quality
thyroid gland	UBERON:0002046	89.73	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.08	gold quality
left ovary	UBERON:0002119	88.63	gold quality
minor salivary gland	UBERON:0001830	88.25	gold quality
metanephros cortex	UBERON:0010533	87.81	gold quality
right ovary	UBERON:0002118	87.35	gold quality
tibial nerve	UBERON:0001323	86.88	gold quality
right adrenal gland cortex	UBERON:0035827	86.43	gold quality
endocervix	UBERON:0000458	86.39	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.36	gold quality
rectum	UBERON:0001052	86.26	gold quality
skin of abdomen	UBERON:0001416	86.15	gold quality
ectocervix	UBERON:0012249	86.06	gold quality
skin of leg	UBERON:0001511	86.02	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.86

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 10)

• the TTC12 gene is hypermethylated in acute lymphoblastic leukemia (PMID:17657212)
• association studies of alcohol dependence and 43 SNPs mapped to the gene cluster of NCAM1, TTC12, ANKK1 and DRD2 (PMID:17761687)
• Genetic linkage tests conclude that variants in TTC12 exon 3 are involved in the regulation of risk for comorbid alcohol and drug dependence. (PMID:18828801)
• This study evaluated the interaction of ANKK1, TTC12, sex, and continental ancestry in tobacco smokers. (PMID:20133381)
• TTC12-ANKK1-DRD2s seemed to influence smoking behavior mainly in adolescence, and its effect is partially mediated by personality characteristics promoting drug-seeking behavior. (PMID:21168125)
• TTC12 SNP rs7130431 was associated with heroin dependence. (PMID:23303482)
• Meta-analysis found that the minor G-allele of rs2236709, mapping TTC12, was associated with self-reported smoking and higher plasma cotinine levels. This risk allele was linked to an increased ventral-striatal blood-oxygen level-dependent response during reward anticipation and with higher DRD2 gene expression in the striatum, but not with TTC12 or ANKK gene expression. (PMID:30104163)
• TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. (PMID:31978331)
• An association study in the Taiwan Biobank elicits three novel candidates for cognitive aging in old adults: NCAM1, TTC12 and ZBTB20. (PMID:34285142)
• Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes. (PMID:36273201)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ttc12	ENSMUSG00000040219
rattus_norvegicus	Ttc12	ENSRNOG00000008595
drosophila_melanogaster	Stip1	FBGN0024352
drosophila_melanogaster	Sgt	FBGN0032640
drosophila_melanogaster	unc-45	FBGN0288846
caenorhabditis_elegans		WBGENE00006781
caenorhabditis_elegans		WBGENE00019983

Paralogs (18): RPAP3 (ENSG00000005175), TOMM34 (ENSG00000025772), ST13 (ENSG00000100380), STUB1 (ENSG00000103266), SPAG1 (ENSG00000104450), SGTA (ENSG00000104969), TTC1 (ENSG00000113312), TTC31 (ENSG00000115282), UNC45A (ENSG00000140553), UNC45B (ENSG00000141161), SPATA16 (ENSG00000144962), TOMM70 (ENSG00000154174), SUGT1 (ENSG00000165416), STIP1 (ENSG00000168439), TTC32 (ENSG00000183891), SGTB (ENSG00000197860), TTC4 (ENSG00000243725), DNAAF4 (ENSG00000256061)

Protein

Protein identifiers

Tetratricopeptide repeat protein 12 — Q9H892 (reviewed: Q9H892)

All UniProt accessions (15): Q9H892, A8K8G6, A8MTE9, B0YJB4, C9J1D2, C9JPY5, C9JYU1, E9PIB6, E9PIS6, E9PJI9, E9PKU6, E9PP06, H0YDB4, H0YEF6, J3KR69

UniProt curated annotations — full annotation on UniProt →

Function. Cytoplasmic protein that plays a role in the proper assembly of dynein arm complexes in motile cilia in both respiratory cells and sperm flagella.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in testis and in epithelial cells of trachea and bronchial tube.

Disease relevance. Ciliary dyskinesia, primary, 45 (CILD45) [MIM:618801] 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. CILD45 is an autosomal recessive form characterized by onset of symptoms in infancy or early childhood. Male patients have infertility due to immotile sperm. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H892-1	1	yes
Q9H892-2	2

RefSeq proteins (6): NP_001305462, NP_001338966, NP_001364992, NP_001364993, NP_001364994, NP_060338* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011989	ARM-like	Homologous_superfamily
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR043195	TTC12	Family

Pfam: PF00515, PF13181

UniProt features (14 total): sequence variant 6, repeat 3, sequence conflict 2, chain 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H892-F1	90.27	0.78

Functional residue map

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

Post-translational modifications (1): 71

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 190 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, FXR_IR1_Q6, SMID_BREAST_CANCER_RELAPSE_IN_LUNG_DN, GOBP_MALE_GAMETE_GENERATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, SMID_BREAST_CANCER_LUMINAL_B_UP, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, WTGAAAT_UNKNOWN, GOCC_CENTROSOME, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM

GO Biological Process (3): sperm axoneme assembly (GO:0007288), axonemal dynein complex assembly (GO:0070286), cell projection organization (GO:0030030)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), plasma membrane (GO:0005886), nuclear membrane (GO:0031965)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
axoneme assembly	2
cellular anatomical structure	2
developmental process involved in reproduction	1
sperm flagellum assembly	1
protein-containing complex assembly	1
cellular component organization	1
binding	1
intracellular anatomical structure	1
centriole	1
microtubule organizing center	1
cytoplasm	1
membrane	1
cell periphery	1
nucleus	1
nuclear envelope	1
organelle membrane	1

Protein interactions and networks

STRING

1839 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TTC12	ANKK1	Q8NFD2	898
TTC12	DRD2	P14416	689
TTC12	CFAP300	Q9BRQ4	575
TTC12	NCAM1	P13591	546
TTC12	ZW10	O43264	536
TTC12	ZMYND10	O75800	531
TTC12	SCOC	Q9UIL1	525
TTC12	CHRNA5	P30532	514
TTC12	CHRNA3	P32297	506
TTC12	DNAAF1	Q8NEP3	502
TTC12	DNAAF11	Q86X45	489
TTC12	KCNT2	Q6UVM3	485
TTC12	DNAH11	Q96DT5	468
TTC12	DNAH1	Q9P2D7	465
TTC12	CCDC40	Q4G0X9	462

IntAct

10 interactions, top by confidence:

A	B	Type	Score
TTC12	H1-2	psi-mi:“MI:0915”(physical association)	0.400
TTC12		psi-mi:“MI:0915”(physical association)	0.370
TTC12	PB1	psi-mi:“MI:0915”(physical association)	0.370
EFNB1	KRBA1	psi-mi:“MI:0914”(association)	0.350
SIGLECL1	RBFOX3	psi-mi:“MI:0914”(association)	0.350
TTC12	DNA2	psi-mi:“MI:0914”(association)	0.350
VSIG1	RIMOC1	psi-mi:“MI:0914”(association)	0.350
SLC27A6	NBAS	psi-mi:“MI:0914”(association)	0.350
PCM1	CCDC66	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (24): TTC12 (Two-hybrid), MIPOL1 (Two-hybrid), TTC12 (Proximity Label-MS), TTC12 (Affinity Capture-MS), TTC12 (Two-hybrid), TTC12 (Affinity Capture-RNA), TTC12 (Two-hybrid), TTC12 (Affinity Capture-RNA), TTC12 (Two-hybrid), TTC12 (Proximity Label-MS), TTC12 (Proximity Label-MS), TTC12 (Proximity Label-MS), TTC12 (Proximity Label-MS), TTC12 (Proximity Label-MS), TTC12 (Proximity Label-MS)

ESM2 similar proteins: A0JMW2, A2VE70, A5WW24, A7E2Y6, B9EJR8, E0CZ22, E1BP36, E7FBU4, O35638, O43156, O70576, O75155, Q08AM6, Q0P5A6, Q0V9L1, Q16401, Q5IFJ8, Q5JTH9, Q5R6L5, Q5ZIW5, Q5ZKD5, Q66L58, Q68F38, Q6DCF2, Q6P5B0, Q6ZQ73, Q7TMY7, Q80W92, Q80WQ2, Q84ZC0, Q86Y56, Q8C0Y0, Q8K2V6, Q8NDA8, Q8WVM7, Q91V83, Q96T76, Q99M76, Q9BPX3, Q9D071

Diamond homologs: A0A3L6DPG1, B0BN85, D3ZSP7, F8RP11, O13797, O59709, O88196, P15705, P53041, P53042, Q08446, Q0JL44, Q12118, Q2KIK0, Q2U919, Q388N2, Q43468, Q4WTC0, Q54IP0, Q55ED0, Q5R8D8, Q5U2X2, Q5WA76, Q5XEP2, Q5ZML4, Q60676, Q7T3F7, Q80ZK9, Q80ZX8, Q8BW49, Q8IZP2, Q8VWG7, Q93YR3, Q95LY5, Q99615, Q9CX34, Q9H892, Q9NES8, Q9QYI3, Q9STH1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	0
Uncertain significance	88
Likely benign	15
Benign	34

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
2377549	NM_017868.4(TTC12):c.283C>T (p.Arg95Ter)	Pathogenic
3239647	NM_017868.4(TTC12):c.1468del (p.Asp490fs)	Pathogenic
816690	NM_017868.4(TTC12):c.1614+3A>T	Pathogenic
816691	NM_017868.4(TTC12):c.1678C>T (p.Arg560Ter)	Pathogenic
816692	NM_017868.4(TTC12):c.607del (p.Glu202_Ile203insTer)	Pathogenic
816693	NM_017868.4(TTC12):c.1700T>G (p.Met567Arg)	Pathogenic

SpliceAI

4021 predictions. Top by Δscore:

Variant	Effect	Δscore
11:113323403:G:GT	donor_gain	1.0000
11:113323425:A:G	donor_gain	1.0000
11:113323444:C:G	donor_gain	1.0000
11:113323448:G:GT	donor_gain	1.0000
11:113323449:A:T	donor_gain	1.0000
11:113323975:T:G	acceptor_gain	1.0000
11:113324579:A:AG	acceptor_gain	1.0000
11:113324580:A:G	acceptor_gain	1.0000
11:113324582:ATCT:A	acceptor_gain	1.0000
11:113325522:A:AG	acceptor_gain	1.0000
11:113325523:G:GG	acceptor_gain	1.0000
11:113339361:G:GT	donor_gain	1.0000
11:113339362:A:T	donor_gain	1.0000
11:113339473:GT:G	donor_gain	1.0000
11:113342646:T:G	donor_gain	1.0000
11:113344270:A:AG	acceptor_gain	1.0000
11:113344271:G:GG	acceptor_gain	1.0000
11:113344437:CCAGG:C	donor_loss	1.0000
11:113344438:CAGGT:C	donor_loss	1.0000
11:113344441:GTAA:G	donor_loss	1.0000
11:113344442:T:A	donor_loss	1.0000
11:113350162:AAAG:A	donor_loss	1.0000
11:113350163:AAGG:A	donor_loss	1.0000
11:113350164:AGGTA:A	donor_loss	1.0000
11:113350166:G:T	donor_loss	1.0000
11:113350167:T:A	donor_loss	1.0000
11:113362389:T:A	acceptor_gain	1.0000
11:113362392:T:A	acceptor_gain	1.0000
11:113362395:A:AG	acceptor_gain	1.0000
11:113362396:CTCA:C	acceptor_loss	1.0000

AlphaMissense

4644 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:113325638:G:C	R146P	0.996
11:113325538:G:T	G113W	0.988
11:113325595:G:C	G132R	0.988
11:113325550:T:C	F117L	0.987
11:113325552:T:A	F117L	0.987
11:113325552:T:G	F117L	0.987
11:113325628:T:G	Y143D	0.987
11:113335008:G:C	A183P	0.985
11:113325531:A:C	K110N	0.984
11:113325531:A:T	K110N	0.984
11:113325538:G:A	G113R	0.984
11:113325538:G:C	G113R	0.984
11:113325641:C:A	A147D	0.984
11:113329920:G:C	A149P	0.984
11:113325596:G:A	G132D	0.983
11:113325640:G:C	A147P	0.983
11:113329971:G:C	A166P	0.982
11:113325575:C:A	A125D	0.981
11:113325539:G:A	G113E	0.980
11:113325586:T:C	Y129H	0.978
11:113316291:T:C	F12L	0.977
11:113316293:T:A	F12L	0.977
11:113316293:T:G	F12L	0.977
11:113325539:G:T	G113V	0.977
11:113334986:A:C	K175N	0.976
11:113334986:A:T	K175N	0.976
11:113324676:G:C	A106P	0.975
11:113325574:G:C	A125P	0.975
11:113325586:T:G	Y129D	0.975
11:113325626:T:A	L142Q	0.975

dbSNP variants (sampled 300 via entrez): RS1000000503 (11:113353288 T>C,G), RS1000124285 (11:113347413 C>G), RS1000416155 (11:113334500 C>A,G), RS1000478889 (11:113370141 G>A), RS1000650473 (11:113321774 C>T), RS1000802023 (11:113341565 C>T), RS1000860943 (11:113358443 C>A,T), RS1000973468 (11:113358642 C>T), RS1001054990 (11:113352001 G>A,T), RS1001149501 (11:113372843 A>G), RS1001160158 (11:113364411 A>G), RS1001197092 (11:113323150 T>C), RS1001269571 (11:113315772 A>G), RS1001342253 (11:113359100 G>A,T), RS1001402607 (11:113352215 A>C,G)

Disease associations

OMIM: gene MIM:610732 | disease phenotypes: MIM:618801

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 45	Strong	Autosomal recessive
primary ciliary dyskinesia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 45	Definitive	AR

Mondo (2): ciliary dyskinesia, primary, 45 (MONDO:0032924), primary ciliary dyskinesia (MONDO:0016575)

Orphanet (0):

HPO phenotypes

51 total (30 of 51 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: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
HP:0006536	Airway obstruction

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST004860_34	Alcoholic chronic pancreatitis	6.000000e-06
GCST005790_24	Rosacea symptom severity	6.000000e-06
GCST005951_69	Body mass index	3.000000e-10
GCST006940_138	Neurociticism	4.000000e-17
GCST006943_14	Feeling miserable	6.000000e-10
GCST006945_23	Feeling guilty	2.000000e-09
GCST007201_123	Schizophrenia	2.000000e-08
GCST007201_393	Schizophrenia	2.000000e-07
GCST007709_300	General factor of neuroticism	6.000000e-09
GCST009391_474	Metabolite levels	6.000000e-06
GCST010988_427	Adult body size	6.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0009180	rosacea severity measurement
EFO:0004340	body mass index
EFO:0007660	neuroticism measurement
EFO:0009598	feeling miserable measurement
EFO:0009595	guilt 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

34 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases methylation, affects expression, affects cotreatment	2
Arsenic	affects cotreatment, decreases expression, increases abundance, affects methylation	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Nickel	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Estradiol	affects cotreatment, increases expression, decreases expression	1
Ethinyl Estradiol	affects expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Silicon Dioxide	decreases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, increases expression, decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Vanadates	decreases expression	1
Asbestos, Crocidolite	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02871778	PHASE2	COMPLETED	Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia
NCT07318974	PHASE2	ACTIVE_NOT_RECRUITING	Melatonin Therapy for Improving ICSI Outcomes in Women With Diminished Ovarian Reserve
NCT05737485	PHASE1	COMPLETED	Study Evaluating the Safety and Tolerability of RCT1100 in Healthy and PCD Subjects
NCT06600425	PHASE1	COMPLETED	A Study to Assess the Safety, Tolerability, Ciliary Rescue, and Pharmacodynamics of RCT1100 in Adults With PCD
NCT06633757	PHASE1	COMPLETED	Study of Inhaled RCT1100 in Adults With PCD Caused by Pathogenic Mutations in the DNAI1 Gene to Measure Mucociliary Clearance
NCT04901715	EARLY_PHASE1	COMPLETED	Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
NCT00005650	Not specified	COMPLETED	Genetic Study of Patients With Primary Ciliary Dyskinesia
NCT00323167	Not specified	COMPLETED	Rare Genetic Disorders of the Breathing Airways
NCT00368446	Not specified	COMPLETED	Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease
NCT00450918	Not specified	COMPLETED	Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents
NCT00608556	Not specified	COMPLETED	Dyskinesia, Heterotaxy and Congenital Heart Disease
NCT00686309	Not specified	UNKNOWN	Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)
NCT00722878	Not specified	COMPLETED	Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease
NCT00739817	Not specified	UNKNOWN	Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide
NCT00783887	Not specified	COMPLETED	Diagnosis of Primary Ciliary Dyskinesia
NCT00807482	Not specified	RECRUITING	Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
NCT01070914	Not specified	UNKNOWN	Early Detection and Characterization of Primary Ciliary Dyskinesia
NCT01155115	Not specified	COMPLETED	Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia
NCT01246258	Not specified	COMPLETED	Otolith Function in Patients With Primary Ciliary Dyskinesia
NCT01929356	Not specified	RECRUITING	Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia
NCT02389049	Not specified	COMPLETED	Genetics of Primary Ciliary Dyskinesia
NCT02419365	Not specified	RECRUITING	International Primary Ciliary Dyskinesia (PCD) Registry
NCT02699177	Not specified	UNKNOWN	In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry
NCT02704455	Not specified	NOT_YET_RECRUITING	Registry Study on Primary Ciliary Dyskinesia in Chinese Children
NCT03271840	Not specified	COMPLETED	Registry for Primary Ciliary Dyskinesia
NCT03279965	Not specified	UNKNOWN	MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03320382	Not specified	UNKNOWN	Multiple Breath Washout, a Clinimetric Dataset
NCT03370029	Not specified	COMPLETED	Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia
NCT03494894	Not specified	COMPLETED	Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03517865	Not specified	ACTIVE_NOT_RECRUITING	International Primary Ciliary Dyskinesia Cohort
NCT03606200	Not specified	RECRUITING	Swiss Primary Ciliary Dyskinesia Registry
NCT03704207	Not specified	RECRUITING	Utility of PCD Diagnostics to Improve Clinical Care
NCT03704896	Not specified	UNKNOWN	PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients
NCT03801395	Not specified	COMPLETED	PCD New Gene Discovery
NCT03809091	Not specified	UNKNOWN	WGS of Korean Idiopathic Bronchiectasis
NCT03832491	Not specified	COMPLETED	Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia
NCT04161313	Not specified	COMPLETED	Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With CF, PCD and Healthy Children
NCT04476433	Not specified	COMPLETED	Intervention in Chronic Pediatric Patients and Their Families.
NCT04489472	Not specified	UNKNOWN	The Effect of a Dietary Supplement Rich in Nitric Oxide in Patients Diagnosed With Primary Ciliary Dyskinesia.
NCT04602481	Not specified	RECRUITING	Living With Primary Ciliary Dyskinesia (Living With PCD)