MCIDAS

Summary

MCIDAS (multiciliate differentiation and DNA synthesis associated cell cycle protein, HGNC:40050) is a protein-coding gene on chromosome 5q11.2, encoding Multicilin (D6RGH6). Transcription regulator specifically required for multiciliate cell differentiation.

This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC).

Source: NCBI Gene 345643 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliary dyskinesia, primary, 42 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 224 total — 11 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 55
• MANE Select transcript: NM_001190787

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:40050
Approved symbol	MCIDAS
Name	multiciliate differentiation and DNA synthesis associated cell cycle protein
Location	5q11.2
Locus type	gene with protein product
Status	Approved
Aliases	MCI, IDAS
Ensembl gene	ENSG00000234602
Ensembl biotype	protein_coding
OMIM	614086
Entrez	345643

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 1 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000513312, ENST00000513468, ENST00000515336

RefSeq mRNA: 1 — MANE Select: NM_001190787 NM_001190787

CCDS: CCDS54853

Canonical transcript exons

ENST00000513312 — 7 exons

Exon	Start	End
ENSE00001752128	55227019	55227315
ENSE00002051235	55219564	55220806
ENSE00003483790	55222951	55223023
ENSE00003547246	55226835	55226931
ENSE00003584537	55221016	55221126
ENSE00003604332	55226576	55226667
ENSE00003652469	55222176	55222399

Expression profiles

Bgee: expression breadth broad, 53 present calls, max score 92.10.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.10	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	64.92	gold quality
right lobe of thyroid gland	UBERON:0001119	57.96	gold quality
body of stomach	UBERON:0001161	55.92	gold quality
thyroid gland	UBERON:0002046	55.91	gold quality
left lobe of thyroid gland	UBERON:0001120	55.86	gold quality
stomach	UBERON:0000945	53.35	gold quality
body of pancreas	UBERON:0001150	53.18	gold quality
pancreas	UBERON:0001264	49.37	gold quality
fundus of stomach	UBERON:0001160	48.96	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	47.03	silver quality
right uterine tube	UBERON:0001302	46.68	gold quality
gall bladder	UBERON:0002110	45.48	gold quality
endometrium	UBERON:0001295	43.46	gold quality
islet of Langerhans	UBERON:0000006	42.21	gold quality
urinary bladder	UBERON:0001255	41.95	gold quality
putamen	UBERON:0001874	41.31	gold quality
nucleus accumbens	UBERON:0001882	41.31	gold quality
metanephros cortex	UBERON:0010533	41.12	gold quality
caudate nucleus	UBERON:0001873	40.34	silver quality
duodenum	UBERON:0002114	38.48	gold quality
mucosa of transverse colon	UBERON:0004991	38.45	silver quality
bone marrow cell	CL:0002092	38.19	gold quality
sural nerve	UBERON:0015488	37.65	gold quality
lower esophagus mucosa	UBERON:0035834	37.48	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
saliva-secreting gland	UBERON:0001044	37.08	silver quality
fallopian tube	UBERON:0003889	36.86	gold quality
adenohypophysis	UBERON:0002196	36.75	silver quality
primary visual cortex	UBERON:0002436	36.67	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting MCIDAS, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111

Literature-anchored findings (GeneRIF, showing 5)

• Idas as a novel Geminin binding partner, implicated in cell cycle progression, and a putative regulator of proliferation-differentiation decisions during development. (PMID:21543332)
• The properties of the Idas-Geminin complex suggest it as the functional form of Idas and provide a possible mechanism to modulate Geminin activity (PMID:24064211)
• MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.MCIDAS regulates CCNO and FOXJ1 expression. (PMID:25048963)
• Transcriptional regulation of multiciliated cell differentiation. (PMID:32362381)
• Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport. (PMID:34569065)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mcidas	ENSMUSG00000074651
rattus_norvegicus	Mcidas	ENSRNOG00000039588
drosophila_melanogaster	geminin	FBGN0033081

Paralogs (2): GMNN (ENSG00000112312), GMNC (ENSG00000205835)

Protein

Protein identifiers

Multicilin — D6RGH6 (reviewed: D6RGH6)

Alternative names: Multiciliate differentiation and DNA synthesis-associated cell cycle protein, Protein Idas

All UniProt accessions (2): D6RGH6, I6L8E2

UniProt curated annotations — full annotation on UniProt →

Function. Transcription regulator specifically required for multiciliate cell differentiation. Acts in a multiprotein complex containing E2F4 and E2F5 that binds and activates genes required for centriole biogenesis. Required for the deuterosome-mediated acentriolar pathway. Plays a role in mitotic cell cycle progression by promoting cell cycle exit. Modulates GMNN activity by reducing its affinity for CDT1.

Subunit / interactions. Heterodimer (via coiled-coil domain) with GMNN (via coiled-coil domain); targets GMNN to the nucleus. Can form homodimers (in vitro, via coiled-coil domain), but these are much less stable than the heterodimer formed with GMNN.

Subcellular location. Nucleus.

Disease relevance. Ciliary dyskinesia, primary, 42 (CILD42) [MIM:618695] 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. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. CILD42 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Was named Idas in reference to the cousin of the Gemini in ancient Greek mythology.

Similarity. Belongs to the geminin family.

RefSeq proteins (1): NP_001177716* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022786	Geminin/Multicilin	Family

Pfam: PF07412

UniProt features (12 total): region of interest 5, sequence variant 3, helix 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4BRY	X-RAY DIFFRACTION	2.89

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-D6RGH6-F1	61.68	0.21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 168 (showing top): GOBP_SINGLE_FERTILIZATION, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_DNA_TEMPLATED_DNA_REPLICATION, GOBP_MALE_GAMETE_GENERATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CENTRIOLE_ASSEMBLY, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_CILIUM_ORGANIZATION, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_ORGANELLE_ASSEMBLY, GOBP_MITOTIC_CELL_CYCLE, GOBP_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_SEX_DIFFERENTIATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION

GO Biological Process (15): spermatogenesis (GO:0007283), single fertilization (GO:0007338), regulation of mitotic cell cycle (GO:0007346), regulation of DNA-templated DNA replication initiation (GO:0030174), motile cilium assembly (GO:0044458), negative regulation of cell cycle (GO:0045786), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), cilium assembly (GO:0060271), seminiferous tubule development (GO:0072520), centriole assembly (GO:0098534), regulation of cilium assembly (GO:1902017), multi-ciliated epithelial cell differentiation (GO:1903251), regulation of DNA replication (GO:0006275), cell projection organization (GO:0030030)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear body (GO:0016604)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of cell cycle	2
cilium assembly	2
developmental process involved in reproduction	1
male gamete generation	1
fertilization	1
mitotic cell cycle	1
DNA replication initiation	1
regulation of DNA-templated DNA replication	1
cell cycle	1
negative regulation of cellular process	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	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
male gonad development	1
tube development	1
reproductive structure development	1
microtubule organizing center organization	1
membraneless organelle assembly	1
regulation of plasma membrane bounded cell projection assembly	1
regulation of organelle assembly	1
columnar/cuboidal epithelial cell differentiation	1
DNA replication	1
regulation of DNA metabolic process	1
cellular component organization	1
protein binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

550 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MCIDAS	E2F4	Q16254	931
MCIDAS	GMNC	A6NCL1	902
MCIDAS	CCNO	P22674	888
MCIDAS	E2F5	Q15329	813
MCIDAS	FOXJ1	Q92949	803
MCIDAS	RFX2	P48378	700
MCIDAS	RSPH4A	Q5TD94	664
MCIDAS	CCDC39	Q9UFE4	639
MCIDAS	DEUP1	Q05D60	638
MCIDAS	RSPH9	Q9H1X1	626
MCIDAS	RSPH1	Q8WYR4	610
MCIDAS	DNAAF5	Q86Y56	610
MCIDAS	RFX3	P48380	610
MCIDAS	CCDC40	Q4G0X9	605
MCIDAS	DRC2	Q8IXS2	594

IntAct

23 interactions, top by confidence:

A	B	Type	Score
GMNN	MCIDAS	psi-mi:“MI:0914”(association)	0.770
MCIDAS	GMNN	psi-mi:“MI:0915”(physical association)	0.770
GMNN	MCIDAS	psi-mi:“MI:0915”(physical association)	0.770
GMNN	MCIDAS	psi-mi:“MI:0403”(colocalization)	0.770
MCIDAS	BYSL	psi-mi:“MI:0915”(physical association)	0.560
MCIDAS	ZBTB24	psi-mi:“MI:0915”(physical association)	0.560
MCIDAS	TCEANC	psi-mi:“MI:0915”(physical association)	0.560
MCIDAS	MCIDAS	psi-mi:“MI:0915”(physical association)	0.540
MCIDAS	MCIDAS	psi-mi:“MI:0407”(direct interaction)	0.540
TFDP2	MCIDAS	psi-mi:“MI:0914”(association)	0.350
TFDP1	MCIDAS	psi-mi:“MI:0914”(association)	0.350
BYSL	MCIDAS	psi-mi:“MI:0915”(physical association)	0.000
ZBTB24	MCIDAS	psi-mi:“MI:0915”(physical association)	0.000
TCEANC	MCIDAS	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): MCIDAS (Affinity Capture-MS), MCIDAS (Affinity Capture-MS), MCIDAS (Two-hybrid), MCIDAS (Two-hybrid), MCIDAS (Two-hybrid), MCIDAS (Affinity Capture-MS), MCIDAS (Affinity Capture-MS), MCIDAS (Co-fractionation), MCIDAS (Co-fractionation)

ESM2 similar proteins: A0P8Z5, A6NCL1, A8E4V2, B5DF41, D3YN49, D3ZDX9, D6RGH6, F1QN48, F1SLM8, F7BHS0, G3N1S4, O15079, P12841, P20389, P24793, P97432, Q08B36, Q14140, Q14596, Q14DQ1, Q1LWL8, Q3SYW5, Q3U827, Q3UKU1, Q3URY2, Q3UZ45, Q4KMA0, Q4R3X1, Q501R9, Q5R8C5, Q5RC94, Q5RD40, Q64210, Q6P2K3, Q6ZNC4, Q80U23, Q80YE2, Q8NFW9, Q8R0W1, Q96A56

Diamond homologs: A6NCL1, D3YN49, D6RGH6, F1SLM8, F7BHS0, Q08B36, Q3URY2, D3ZDX9, G3N1S4, O75496, O88513, Q3UZ45

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	11
Likely pathogenic	5
Uncertain significance	86
Likely benign	103
Benign	11

Top pathogenic / likely-pathogenic (16)

Variant ID	HGVS	Classification
1398758	NM_001190787.3(MCIDAS):c.235del (p.Leu79fs)	Pathogenic
1459598	NC_000005.9:g.(?54518759)(54518871_?)del	Pathogenic
1810250	NM_001190787.3(MCIDAS):c.607-1G>T	Pathogenic
1997691	NM_001190787.3(MCIDAS):c.149del (p.Gly50fs)	Pathogenic
2083826	NM_001190787.3(MCIDAS):c.662_678del (p.Asn221fs)	Pathogenic
209007	NM_001190787.3(MCIDAS):c.441C>A (p.Cys147Ter)	Pathogenic
209008	NM_001190787.3(MCIDAS):c.1097G>A (p.Gly366Asp)	Pathogenic
2505514	NM_001190787.3(MCIDAS):c.446T>C (p.Ile149Thr)	Pathogenic
565534	NM_001190787.3(MCIDAS):c.135del (p.Lys46fs)	Pathogenic
800285	NM_001190787.3(MCIDAS):c.717+2T>G	Pathogenic
934536	NM_001190787.3(MCIDAS):c.625C>T (p.Gln209Ter)	Pathogenic
1502494	NM_001190787.3(MCIDAS):c.1151C>A (p.Pro384His)	Likely pathogenic
209009	NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His)	Likely pathogenic
2690641	NM_001190787.3(MCIDAS):c.501del (p.Pro168fs)	Likely pathogenic
3716891	NM_001190787.3(MCIDAS):c.120+2T>C	Likely pathogenic
4737470	NM_001190787.3(MCIDAS):c.606+1G>A	Likely pathogenic

SpliceAI

1155 predictions. Top by Δscore:

Variant	Effect	Δscore
5:55221014:A:AC	donor_gain	1.0000
5:55221014:ACAT:A	donor_gain	1.0000
5:55221015:C:CC	donor_gain	1.0000
5:55221015:CATC:C	donor_gain	1.0000
5:55221124:CAG:C	acceptor_gain	1.0000
5:55221127:C:CC	acceptor_gain	1.0000
5:55223019:TGGTT:T	acceptor_gain	1.0000
5:55223020:GGTTC:G	acceptor_loss	1.0000
5:55223022:TT:T	acceptor_gain	1.0000
5:55223022:TTC:T	acceptor_loss	1.0000
5:55223023:TCTG:T	acceptor_loss	1.0000
5:55223024:C:CC	acceptor_gain	1.0000
5:55223024:C:G	acceptor_loss	1.0000
5:55227021:T:A	donor_gain	1.0000
5:55227034:C:A	donor_gain	1.0000
5:55221009:CACTT:C	donor_loss	0.9900
5:55221010:ACTTA:A	donor_loss	0.9900
5:55221011:CTTAC:C	donor_loss	0.9900
5:55221012:TTACA:T	donor_loss	0.9900
5:55221013:TA:T	donor_loss	0.9900
5:55221015:C:CA	donor_loss	0.9900
5:55221015:CAT:C	donor_gain	0.9900
5:55221122:TGCAG:T	acceptor_gain	0.9900
5:55221123:GCAG:G	acceptor_gain	0.9900
5:55221123:GCAGC:G	acceptor_loss	0.9900
5:55221124:CAGC:C	acceptor_gain	0.9900
5:55221125:AG:A	acceptor_gain	0.9900
5:55221126:GCTG:G	acceptor_loss	0.9900
5:55221127:C:CA	acceptor_loss	0.9900
5:55221128:T:A	acceptor_loss	0.9900

AlphaMissense

2494 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:55220380:A:G	W382R	0.998
5:55220380:A:T	W382R	0.998
5:55220378:C:A	W382C	0.997
5:55220378:C:G	W382C	0.997
5:55220384:G:C	F380L	0.997
5:55220384:G:T	F380L	0.997
5:55220385:A:G	F380S	0.997
5:55220386:A:G	F380L	0.997
5:55220417:G:C	F369L	0.993
5:55220417:G:T	F369L	0.993
5:55220419:A:G	F369L	0.993
5:55220382:C:G	R381P	0.992
5:55220427:C:A	G366V	0.992
5:55220428:C:G	G366R	0.992
5:55221062:A:G	L224P	0.992
5:55220379:C:G	W382S	0.991
5:55220418:A:G	F369S	0.989
5:55220421:G:T	A368D	0.989
5:55220385:A:C	F380C	0.988
5:55221125:A:G	L203P	0.988
5:55220427:C:T	G366D	0.987
5:55222236:C:A	W182C	0.987
5:55222236:C:G	W182C	0.987
5:55221032:A:G	L234P	0.986
5:55220428:C:A	G366C	0.985
5:55220435:G:C	F363L	0.985
5:55220435:G:T	F363L	0.985
5:55220437:A:G	F363L	0.985
5:55221053:A:G	L227P	0.985
5:55222182:A:C	N200K	0.984

dbSNP variants (sampled 300 via entrez): RS1000251564 (5:55219490 A>G), RS1000355466 (5:55225826 G>C), RS1000842237 (5:55221947 T>A,C), RS1000896015 (5:55228160 C>G), RS1001274635 (5:55222224 C>G,T), RS1001418340 (5:55227464 C>G,T), RS1001508126 (5:55224975 A>C), RS1001852664 (5:55225159 G>C), RS1001897568 (5:55222308 C>T), RS1002251575 (5:55223433 C>A,T), RS1002420694 (5:55228854 T>A), RS1002863009 (5:55223952 G>A), RS1002917740 (5:55226351 A>T), RS1003879834 (5:55222258 A>C,G), RS1004015613 (5:55222528 T>G)

Disease associations

OMIM: gene MIM:614086 | disease phenotypes: MIM:244400, MIM:618695, MIM:608644

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 42	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, 42	Definitive	AR

Mondo (3): primary ciliary dyskinesia (MONDO:0016575), ciliary dyskinesia, primary, 42 (MONDO:0032872), primary ciliary dyskinesia 3 (MONDO:0012085)

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: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:0002090	Pneumonia
HP:0002093	Respiratory insufficiency
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0003623	Neonatal onset
HP:0005301	Persistent left superior vena cava

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008399_7	Cocaine dependence	8.000000e-06

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
C535278	Primary ciliary dyskinesia, 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression	2
titanium dioxide	decreases expression	1
abrine	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Benzo(a)pyrene	increases expression	1
Cisplatin	decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Phthalic Acids	increases methylation	1
Cadmium Chloride	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_D3BG	PCD3	Induced pluripotent stem cell	Female

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)