DRC1

Summary

DRC1 (dynein regulatory complex subunit 1, HGNC:24245) is a protein-coding gene on chromosome 2p23.3, encoding Dynein regulatory complex protein 1 (Q96MC2). Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes.

This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia.

Source: NCBI Gene 92749 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 21 (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 599 total — 26 pathogenic, 12 likely-pathogenic
• Phenotypes (HPO): 59
• MANE Select transcript: NM_145038

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24245
Approved symbol	DRC1
Name	dynein regulatory complex subunit 1
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC16372, FLJ32660, CILD21
Ensembl gene	ENSG00000157856
Ensembl biotype	protein_coding
OMIM	615288
Entrez	92749

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 3 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000288710, ENST00000421869, ENST00000439066, ENST00000442810, ENST00000483675, ENST00000487307, ENST00000497651, ENST00000649059, ENST00000868388, ENST00000941553

RefSeq mRNA: 1 — MANE Select: NM_145038 NM_145038

CCDS: CCDS1723

Canonical transcript exons

ENST00000288710 — 17 exons

Exon	Start	End
ENSE00001035511	26456461	26456711
ENSE00001035520	26455131	26455233
ENSE00001035521	26444716	26444948
ENSE00001035525	26421288	26421400
ENSE00001035533	26414344	26414431
ENSE00001035536	26454647	26454790
ENSE00001035539	26453320	26453549
ENSE00001035540	26401920	26402144
ENSE00003493124	26430786	26430872
ENSE00003572542	26424271	26424454
ENSE00003618368	26440378	26440517
ENSE00003628333	26431884	26432006
ENSE00003653102	26444222	26444356
ENSE00003674857	26429628	26429765
ENSE00003722050	26450592	26450681
ENSE00003726051	26448691	26448803
ENSE00003739484	26449996	26450085

Expression profiles

Bgee: expression breadth ubiquitous, 141 present calls, max score 97.36.

FANTOM5 (CAGE): breadth broad, TPM avg 0.6901 / max 64.5052, expressed in 213 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19264	0.6508	199
19265	0.0394	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	97.36	gold quality
bronchial epithelial cell	CL:0002328	96.42	gold quality
bronchus	UBERON:0002185	94.94	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.02	gold quality
mucosa of paranasal sinus	UBERON:0005030	89.40	gold quality
epithelium of nasopharynx	UBERON:0001951	88.86	gold quality
left testis	UBERON:0004533	87.67	gold quality
right testis	UBERON:0004534	87.20	gold quality
testis	UBERON:0000473	84.84	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.14	gold quality
nasal cavity epithelium	UBERON:0005384	81.27	silver quality
ventricular zone	UBERON:0003053	77.20	gold quality
fallopian tube	UBERON:0003889	76.99	gold quality
upper arm skin	UBERON:0004263	74.03	gold quality
sperm	CL:0000019	73.04	silver quality
adenohypophysis	UBERON:0002196	72.34	gold quality
nasal cavity mucosa	UBERON:0001826	72.25	gold quality
oviduct epithelium	UBERON:0004804	72.16	gold quality
hypothalamus	UBERON:0001898	71.11	gold quality
pituitary gland	UBERON:0000007	70.90	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	70.23	gold quality
cardiac muscle of right atrium	UBERON:0003379	67.91	gold quality
sural nerve	UBERON:0015488	67.87	gold quality
right lung	UBERON:0002167	67.62	gold quality
left ventricle myocardium	UBERON:0006566	67.59	gold quality
prefrontal cortex	UBERON:0000451	67.29	gold quality
caudate nucleus	UBERON:0001873	65.66	gold quality
Brodmann (1909) area 9	UBERON:0013540	65.62	gold quality
right frontal lobe	UBERON:0002810	64.10	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	63.97	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-9388	yes	594.23
E-ENAD-27	yes	15.72
E-GEOD-130148	yes	11.09
E-ANND-3	yes	10.93

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

6 targeting DRC1, 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-6748-5P	100.00	65.81	1057
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-4438	97.96	63.70	947
HSA-MIR-4308	97.56	67.13	1385
HSA-MIR-196B-3P	85.79	67.95	91

Literature-anchored findings (GeneRIF, showing 6)

• Loss-of-function mutations disrupting DRC1 result in severe defects in assembly of the N-DRC structure and defective ciliary movement in Chlamydomonas reinhardtii and humans (PMID:23354437)
• Study report a 50-year-old Japanese male and 5 years old girl of Korean descent with primary ciliary dyskinesia (PCD) harboring a large homozygous deletion spanning exons 1- 4 of the DRC1. Four carriers of the same deletion among 965 Asian individuals were identified, whereas no deletion was found in the 23,951 non-Asians. Authors speculate that the DRC1 deletion is a recurrent or perhaps founder PCD mutation in Asians. (PMID:31270959)
• Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population. (PMID:31960620)
• Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse. (PMID:34169321)
• Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia. (PMID:36747106)
• Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis. (PMID:36864285)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	drc1	ENSDARG00000042182
mus_musculus	Drc1	ENSMUSG00000073102
rattus_norvegicus	Drc1	ENSRNOG00000024905
drosophila_melanogaster	CG10958	FBGN0030004

Paralogs (1): CCDC65 (ENSG00000139537)

Protein

Protein identifiers

Dynein regulatory complex protein 1 — Q96MC2 (reviewed: Q96MC2)

Alternative names: Coiled-coil domain-containing protein 164

All UniProt accessions (3): A0A3B3IT12, F8WE02, Q96MC2

UniProt curated annotations — full annotation on UniProt →

Function. Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with DRC2 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules.

Subunit / interactions. Component of the nexin-dynein regulatory complex (N-DRC). Interacts with DRC2, DRC3, DRC4 and DRC5.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Flagellum axoneme.

Disease relevance. Ciliary dyskinesia, primary, 21 (CILD21) [MIM:615294] 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. Patients may 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. Spermatogenic failure 80 (SPGF80) [MIM:620222] An autosomal recessive, male infertility disorder characterized by reduced or absent progressive sperm motility due to multiple morphologic abnormalities of the flagella, including short, coiled, absent, and irregular-caliber flagella. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the DRC1 family.

RefSeq proteins (1): NP_659475* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029440	DRC1_C	Domain
IPR039505	DRC1/2_N	Domain
IPR039750	DRC1/DRC2	Family

Pfam: PF14772, PF14775

UniProt features (18 total): sequence variant 10, sequence conflict 2, coiled-coil region 2, compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96MC2-F1	75.44	0.34

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 227 (showing top): GOBP_SINGLE_FERTILIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_MALE_GAMETE_GENERATION, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MOTILE_CILIUM_ASSEMBLY

GO Biological Process (12): regulation of cilium movement (GO:0003352), single fertilization (GO:0007338), determination of left/right symmetry (GO:0007368), heart development (GO:0007507), cilium-dependent cell motility (GO:0060285), axonemal dynein complex assembly (GO:0070286), mucociliary clearance (GO:0120197), sperm flagellum assembly (GO:0120316), flagellated sperm motility (GO:0030317), axoneme assembly (GO:0035082), cilium organization (GO:0044782), protein-containing complex assembly (GO:0065003)

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

GO Cellular Component (10): extracellular region (GO:0005576), cytosol (GO:0005829), axonemal dynein complex (GO:0005858), axoneme (GO:0005930), sperm flagellum (GO:0036126), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cilium movement	2
cellular component assembly	2
regulation of microtubule-based movement	1
fertilization	1
determination of bilateral symmetry	1
left/right pattern formation	1
animal organ development	1
circulatory system development	1
cilium or flagellum-dependent cell motility	1
axoneme assembly	1
protein-containing complex assembly	1
respiratory system process	1
epithelial cilium movement involved in extracellular fluid movement	1
developmental process involved in reproduction	1
spermatid development	1
flagellated sperm motility	1
motile cilium assembly	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
microtubule bundle formation	1
cilium assembly	1
organelle organization	1
plasma membrane bounded cell projection organization	1
protein-containing complex organization	1
binding	1
cytoplasm	1
axoneme	1
dynein complex	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
9+2 motile cilium	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

450 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DRC1	CCDC40	Q4G0X9	879
DRC1	DRC2	Q8IXS2	876
DRC1	CCDC39	Q9UFE4	867
DRC1	DRC4	O95995	855
DRC1	DRC7	Q8IY82	761
DRC1	RSPH9	Q9H1X1	760
DRC1	DNAAF19	Q8IW40	754
DRC1	RSPH1	Q8WYR4	750
DRC1	RSPH4A	Q5TD94	733
DRC1	ODAD2	Q5T2S8	719
DRC1	DNAAF5	Q86Y56	718
DRC1	ODAD1	Q96M63	709
DRC1	SERPINE2	P07093	704
DRC1	DNAH11	Q96DT5	701
DRC1	DNAAF1	Q8NEP3	697

IntAct

5 interactions, top by confidence:

A	B	Type	Score
ALDOA	ALDOC	psi-mi:“MI:0914”(association)	0.790
GSK3A	DRC1	psi-mi:“MI:0915”(physical association)	0.370
Dctn3		psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

BioGRID (10): DRC1 (Co-fractionation), DRC1 (Affinity Capture-MS), DRC1 (Affinity Capture-MS), DRC1 (Affinity Capture-MS), DRC1 (Affinity Capture-MS), DRC1 (Affinity Capture-MS), DRC1 (Two-hybrid), DRC1 (Affinity Capture-MS), DRC1 (Cross-Linking-MS (XL-MS)), SPRY1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0R4IFG5, A0A480NP79, A0A974E306, A0AUP1, A0AUT1, A0JLY1, A4IJ21, A7S8T5, A8I9E8, D6REC4, E1BJL9, F1N7G5, O88346, P02641, Q0VC09, Q0VFZ6, Q1RM03, Q2KIQ2, Q2TA16, Q32KY1, Q32LJ7, Q32LN4, Q3TVW5, Q3USS3, Q4R698, Q4R7T8, Q4R8R3, Q5RE49, Q61884, Q6AXN9, Q6AXQ8, Q6AYL4, Q6PBA8, Q7T0Y4, Q7TNB2, Q7Z4T9, Q8BRC6, Q8N443, Q8NEF3, Q8NEH6

Diamond homologs: F1QRC1, Q32KY1, Q3USS3, Q5XI65, Q7T0Y4, Q95JM8, Q96MC2, P0DL09

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
DRC1	“form complex”	“Nexin-dynein regulatory complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	26
Likely pathogenic	12
Uncertain significance	229
Likely benign	231
Benign	77

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1034291	NM_145038.5(DRC1):c.1976del (p.Ser659fs)	Pathogenic
1071918	NM_145038.5(DRC1):c.1471del (p.Thr491fs)	Pathogenic
1075022	NM_145038.5(DRC1):c.427G>T (p.Glu143Ter)	Pathogenic
1172761	NC_000002.12:g.26398040_26425787del	Pathogenic
1451951	NM_145038.5(DRC1):c.732G>A (p.Trp244Ter)	Pathogenic
1457351	NM_145038.5(DRC1):c.344dup (p.Arg117fs)	Pathogenic
1806620	NM_145038.5(DRC1):c.238C>T (p.Arg80Ter)	Pathogenic
2420565	NM_145038.5(DRC1):c.391C>T (p.Gln131Ter)	Pathogenic
2427324	NC_000002.11:g.(?26624858)(26647342_?)del	Pathogenic
2427325	NC_000002.11:g.(?26667070)(26667836_?)del	Pathogenic
2443827	NM_145038.5(DRC1):c.1660C>T (p.Arg554Ter)	Pathogenic
2906709	NM_145038.5(DRC1):c.1013del (p.Lys338fs)	Pathogenic
3247068	NC_000002.11:g.(?26644136)(26644288_?)del	Pathogenic
3342719	NM_145038.5(DRC1):c.1205G>A (p.Trp402Ter)	Pathogenic
3606093	NM_145038.5(DRC1):c.1553del (p.Leu518fs)	Pathogenic
3696711	NM_145038.5(DRC1):c.1925C>A (p.Ser642Ter)	Pathogenic
3705514	NM_145038.5(DRC1):c.1751C>G (p.Ser584Ter)	Pathogenic
3907661	NM_145038.5(DRC1):c.2066_2067dup (p.Val690fs)	Pathogenic
4709376	NM_145038.5(DRC1):c.397A>T (p.Lys133Ter)	Pathogenic
4715779	NM_145038.5(DRC1):c.887del (p.Gln296fs)	Pathogenic
4722330	NM_145038.5(DRC1):c.1078A>T (p.Lys360Ter)	Pathogenic
4820312	NM_145038.5(DRC1):c.503del (p.Leu167_Leu168insTer)	Pathogenic
55839	NM_145038.5(DRC1):c.2056A>T (p.Lys686Ter)	Pathogenic
659594	NC_000002.12:g.(?26440358)(26444376_?)del	Pathogenic
837206	NM_145038.5(DRC1):c.1325del (p.Asn442fs)	Pathogenic
956836	NM_145038.5(DRC1):c.673dup (p.Ile225fs)	Pathogenic
1691112	NM_145038.5(DRC1):c.156-1724_244-2550del	Likely pathogenic
2019128	NM_145038.5(DRC1):c.1600-2A>G	Likely pathogenic
2177040	NM_145038.5(DRC1):c.357-2A>G	Likely pathogenic
3065297	NM_145038.5(DRC1):c.797_801dup (p.Asp268Ter)	Likely pathogenic

SpliceAI

2679 predictions. Top by Δscore:

Variant	Effect	Δscore
2:26402142:GCG:G	donor_gain	1.0000
2:26402144:GGTG:G	donor_loss	1.0000
2:26402145:G:GA	donor_loss	1.0000
2:26402145:G:GG	donor_gain	1.0000
2:26402146:T:G	donor_loss	1.0000
2:26421282:TTTTA:T	acceptor_loss	1.0000
2:26421283:TTTA:T	acceptor_loss	1.0000
2:26421284:TTAGA:T	acceptor_loss	1.0000
2:26421285:TAGA:T	acceptor_loss	1.0000
2:26421286:A:AG	acceptor_gain	1.0000
2:26421286:A:C	acceptor_loss	1.0000
2:26421287:G:GA	acceptor_gain	1.0000
2:26421287:GA:G	acceptor_gain	1.0000
2:26421287:GAA:G	acceptor_gain	1.0000
2:26421287:GAAA:G	acceptor_gain	1.0000
2:26421287:GAAAT:G	acceptor_gain	1.0000
2:26421402:T:A	donor_loss	1.0000
2:26429623:TCTA:T	acceptor_loss	1.0000
2:26429624:CTA:C	acceptor_loss	1.0000
2:26429626:A:AG	acceptor_gain	1.0000
2:26429626:AG:A	acceptor_gain	1.0000
2:26429627:G:GC	acceptor_loss	1.0000
2:26429627:G:GG	acceptor_gain	1.0000
2:26429627:GG:G	acceptor_gain	1.0000
2:26429627:GGA:G	acceptor_gain	1.0000
2:26431873:T:TA	acceptor_gain	1.0000
2:26431875:T:TA	acceptor_gain	1.0000
2:26431881:TA:T	acceptor_loss	1.0000
2:26431882:A:AG	acceptor_gain	1.0000
2:26431882:A:G	acceptor_loss	1.0000

AlphaMissense

4926 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:26424335:T:A	W141R	0.996
2:26424335:T:C	W141R	0.996
2:26429704:G:C	R206P	0.996
2:26430805:G:C	R233P	0.996
2:26424337:G:C	W141C	0.994
2:26424337:G:T	W141C	0.994
2:26449999:T:C	F505L	0.994
2:26450001:C:A	F505L	0.994
2:26450001:C:G	F505L	0.994
2:26424435:T:C	L174P	0.992
2:26402092:C:A	R35S	0.991
2:26424282:T:C	L123P	0.991
2:26424372:T:C	L153P	0.991
2:26424384:T:C	L157P	0.991
2:26424414:T:C	L167P	0.991
2:26402108:G:C	R40P	0.989
2:26402114:G:C	R42P	0.989
2:26402101:G:C	A38P	0.988
2:26402105:G:C	R39P	0.988
2:26429695:T:C	L203P	0.986
2:26402093:G:C	R35P	0.985
2:26402113:C:A	R42S	0.985
2:26424427:G:C	K171N	0.985
2:26424427:G:T	K171N	0.985
2:26454756:T:A	W677R	0.985
2:26454756:T:C	W677R	0.985
2:26430814:T:C	L236P	0.984
2:26455199:T:C	L711P	0.984
2:26455211:T:C	L715P	0.982
2:26429752:T:C	L222P	0.981

dbSNP variants (sampled 300 via entrez): RS1000000016 (2:26429614 A>G), RS1000010978 (2:26417841 A>T), RS1000070071 (2:26430929 A>C,T), RS1000152544 (2:26428573 T>G), RS1000180596 (2:26436311 T>C), RS1000235012 (2:26422395 G>A), RS1000324442 (2:26428391 A>C), RS1000374544 (2:26416928 T>A), RS1000388402 (2:26400231 A>C,G), RS1000426268 (2:26442514 G>C), RS1000460464 (2:26428698 T>C), RS1000461865 (2:26400542 A>G), RS1000513033 (2:26434727 T>C), RS1000579353 (2:26447136 C>T), RS1000584880 (2:26435022 C>T)

Disease associations

OMIM: gene MIM:615288 | disease phenotypes: MIM:244400, MIM:615294, MIM:620222

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 21	Strong	Autosomal recessive
primary ciliary dyskinesia	Supportive	Autosomal dominant
spermatogenic failure 80	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
primary ciliary dyskinesia 21	Definitive	AR

Mondo (4): primary ciliary dyskinesia (MONDO:0016575), primary ciliary dyskinesia 21 (MONDO:0014123), primary ciliary dyskinesia 1 (MONDO:0009484), spermatogenic failure 80 (MONDO:0859364)

Orphanet (2): Primary ciliary dyskinesia (Orphanet:244), Primary ciliary dyskinesia, Kartagener type (Orphanet:98861)

HPO phenotypes

59 total (30 of 59 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:0000798	Oligozoospermia
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:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0005301	Persistent left superior vena cava

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001823_2	Metabolite levels (HVA/MHPG ratio)	4.000000e-06
GCST001824_4	Metabolite levels (HVA)	2.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005131	HVA measurement
EFO:0005133	MHPG 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

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression	2
aristolochic acid I	increases expression	1
bisphenol A	increases methylation, affects cotreatment, decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	increases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects cotreatment, affects response to substance	1
pentanal	increases expression	1
licochalcone B	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
Smoke	increases abundance, increases expression	1
Cadmium Chloride	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)