ODAD2

Summary

ODAD2 (outer dynein arm docking complex subunit 2, HGNC:25583) is a protein-coding gene on chromosome 10p12.1, encoding Outer dynein arm-docking complex subunit 2 (Q5T2S8). Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule.

The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 55130 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 23 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 6
• Clinical variants (ClinVar): 713 total — 41 pathogenic, 20 likely-pathogenic
• Phenotypes (HPO): 53
• MANE Select transcript: NM_018076

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25583
Approved symbol	ODAD2
Name	outer dynein arm docking complex subunit 2
Location	10p12.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10817, FLJ10376, DKFZP434P1735, CILD23, gudu
Ensembl gene	ENSG00000169126
Ensembl biotype	protein_coding
OMIM	615408
Entrez	55130

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 17 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000305242, ENST00000434029, ENST00000467083, ENST00000480504, ENST00000481659, ENST00000486279, ENST00000671855, ENST00000672841, ENST00000672864, ENST00000672877, ENST00000673384, ENST00000673439, ENST00000673512, ENST00000852623, ENST00000852624, ENST00000852625, ENST00000923083, ENST00000923084, ENST00000923085, ENST00000923086, ENST00000923087, ENST00000923088

RefSeq mRNA: 4 — MANE Select: NM_018076 NM_001290020, NM_001290021, NM_001312689, NM_018076

CCDS: CCDS7157, CCDS91232, CCDS91233

Canonical transcript exons

ENST00000305242 — 20 exons

Exon	Start	End
ENSE00000696693	27862434	27862622
ENSE00001122664	27983843	27983979
ENSE00001122670	27984184	27984290
ENSE00001122686	27935010	27935252
ENSE00001122697	27936726	27936880
ENSE00001122706	27939897	27940007
ENSE00001122716	27940563	27940805
ENSE00001153606	27907663	27907777
ENSE00001305094	27812168	27812625
ENSE00001312233	27860625	27860846
ENSE00001468360	27998994	27999079
ENSE00001625610	27987386	27987543
ENSE00002275741	27994919	27995180
ENSE00002527248	27944222	27944431
ENSE00003593987	27985019	27985211
ENSE00003598893	27944816	27944962
ENSE00003625871	27971108	27971313
ENSE00003635916	27981466	27981582
ENSE00003638183	27961568	27961715
ENSE00003692530	27968923	27969018

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 96.77.

FANTOM5 (CAGE): breadth broad, TPM avg 1.1081 / max 80.7442, expressed in 481 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
108796	0.4513	224
108794	0.2489	120
108793	0.1361	55
108789	0.0673	25
108792	0.0557	18
108788	0.0435	3
108790	0.0427	7
108787	0.0369	15
108795	0.0218	8
108791	0.0039	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	96.77	gold quality
right uterine tube	UBERON:0001302	96.26	gold quality
sperm	CL:0000019	91.40	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.99	gold quality
left testis	UBERON:0004533	89.40	gold quality
mucosa of paranasal sinus	UBERON:0005030	89.33	gold quality
epithelium of bronchus	UBERON:0002031	88.88	gold quality
right testis	UBERON:0004534	88.50	gold quality
male germ cell	CL:0000015	87.84	gold quality
bronchus	UBERON:0002185	87.49	gold quality
testis	UBERON:0000473	86.86	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.97	gold quality
epithelium of nasopharynx	UBERON:0001951	83.84	gold quality
nasopharynx	UBERON:0001728	83.83	gold quality
adenohypophysis	UBERON:0002196	80.06	gold quality
pituitary gland	UBERON:0000007	77.79	gold quality
ventricular zone	UBERON:0003053	77.22	gold quality
fallopian tube	UBERON:0003889	72.57	gold quality
calcaneal tendon	UBERON:0003701	71.76	gold quality
right coronary artery	UBERON:0001625	71.01	gold quality
ganglionic eminence	UBERON:0004023	69.95	gold quality
left ovary	UBERON:0002119	69.51	gold quality
muscle layer of sigmoid colon	UBERON:0035805	69.20	gold quality
prostate gland	UBERON:0002367	69.14	gold quality
endocervix	UBERON:0000458	69.10	gold quality
right ovary	UBERON:0002118	68.26	gold quality
right adrenal gland cortex	UBERON:0035827	68.06	gold quality
pancreatic ductal cell	CL:0002079	68.01	silver quality
nasal cavity mucosa	UBERON:0001826	67.95	gold quality
stromal cell of endometrium	CL:0002255	67.38	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting ODAD2, 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-513A-5P	100.00	69.77	2465
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-12113	99.32	67.54	1072
HSA-MIR-499A-3P	99.18	69.20	1392
HSA-MIR-499B-3P	99.18	69.27	1391
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-4539	98.78	67.18	888
HSA-MIR-501-5P	98.77	68.88	1328
HSA-MIR-3668	98.52	68.76	951
HSA-MIR-599	98.32	66.99	1037
HSA-MIR-1245B-3P	98.01	68.91	1387
HSA-MIR-5681A	97.99	67.17	1658
HSA-MIR-12116	97.94	68.91	595
HSA-MIR-6788-3P	94.50	66.17	68
HSA-MIR-758-5P	93.99	64.46	534

Literature-anchored findings (GeneRIF, showing 2)

• ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. (PMID:23849778)
• Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. (PMID:24203976)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	odad2	ENSDARG00000055128
mus_musculus	Odad2	ENSMUSG00000061802
rattus_norvegicus	Odad2	ENSRNOG00000018905
drosophila_melanogaster	gudu	FBGN0031905

Paralogs (4): ANKAR (ENSG00000151687), ARMC3 (ENSG00000165309), CTNNB1 (ENSG00000168036), JUP (ENSG00000173801)

Protein

Protein identifiers

Outer dynein arm-docking complex subunit 2 — Q5T2S8 (reviewed: Q5T2S8)

Alternative names: Armadillo repeat-containing protein 4

All UniProt accessions (8): Q5T2S8, A0A140VKF7, A0A5F9ZH09, A0A5F9ZH16, A0A5F9ZH22, A0A5F9ZH61, A0A5F9ZI13, R4GN11

UniProt curated annotations — full annotation on UniProt →

Function. Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule. Involved in mediating assembly of both ODAs and their axonemal docking complex onto ciliary microtubules.

Subunit / interactions. Component of the outer dynein arm-docking complex along with ODAD1, ODAD3, and ODAD4. Interacts with CFAP61.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Cilium basal body.

Tissue specificity. Expressed in respiratory epithelial cells (at protein level).

Disease relevance. Ciliary dyskinesia, primary, 23 (CILD23) [MIM:615451] 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. Contrary to the wild-type protein, disease-causing variant Trp-927 is unable to rescue the phenotype (randomization of heart looping) of the morpholino knockdown of the orthologous protein in zebrafish.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5T2S8-1	1	yes
Q5T2S8-2	2

RefSeq proteins (4): NP_001276949, NP_001276950, NP_001299618, NP_060546* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000225	Armadillo	Repeat
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR023231	GSKIP_dom_sf	Homologous_superfamily

Pfam: PF00514

UniProt features (22 total): repeat 10, sequence variant 4, region of interest 2, compositionally biased region 2, splice variant 2, chain 1, modified residue 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-Q5T2S8-F1	80.63	0.54

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): 552

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 165 (showing top): GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_VENTRICULAR_SYSTEM_DEVELOPMENT, 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_OUTER_DYNEIN_ARM_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_HEAD_DEVELOPMENT, AACTTT_UNKNOWN, GOBP_REGULATION_OF_CILIUM_MOVEMENT

GO Biological Process (7): cilium movement (GO:0003341), regulation of cilium beat frequency (GO:0003356), determination of left/right symmetry (GO:0007368), heart development (GO:0007507), ventricular system development (GO:0021591), outer dynein arm assembly (GO:0036158), cell projection organization (GO:0030030)

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

GO Cellular Component (6): axoneme (GO:0005930), ciliary base (GO:0097546), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
microtubule-based movement	1
regulation of cilium movement	1
determination of bilateral symmetry	1
left/right pattern formation	1
animal organ development	1
circulatory system development	1
brain development	1
system development	1
axonemal dynein complex assembly	1
cellular component organization	1
binding	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
cilium	1
ciliary transition zone	1
ciliary transition fiber	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

2203 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ODAD2	ODAD1	Q96M63	975
ODAD2	ODAD3	A5D8V7	961
ODAD2	ODAD4	Q96NG3	886
ODAD2	DNAH5	Q8TE73	836
ODAD2	ZMYND10	O75800	809
ODAD2	CCDC63	Q8NA47	793
ODAD2	CCDC39	Q9UFE4	782
ODAD2	DNAAF11	Q86X45	778
ODAD2	DNAAF5	Q86Y56	771
ODAD2	DNAI2	Q9GZS0	760
ODAD2	CCDC40	Q4G0X9	756
ODAD2	DNAI1	Q9UI46	741
ODAD2	DNAH11	Q96DT5	736
ODAD2	DNAAF19	Q8IW40	731
ODAD2	RSPH4A	Q5TD94	719
ODAD2	DRC1	Q96MC2	719

IntAct

22 interactions, top by confidence:

A	B	Type	Score
RFXANK	RFXAP	psi-mi:“MI:0914”(association)	0.780
NR4A2	ODAD2	psi-mi:“MI:0915”(physical association)	0.560
ODAD2	HSP90B1	psi-mi:“MI:0915”(physical association)	0.400
M		psi-mi:“MI:0914”(association)	0.350
MIF	BLTP3B	psi-mi:“MI:0914”(association)	0.350
ODAD2	OMA1	psi-mi:“MI:0914”(association)	0.350
B4GALT2	LENG9	psi-mi:“MI:0914”(association)	0.350
NPAS1	CIBAR1	psi-mi:“MI:0914”(association)	0.350
INF2	PIPSL	psi-mi:“MI:0914”(association)	0.350
KCNE3	TMEM131L	psi-mi:“MI:0914”(association)	0.350
GPR45	VWA8	psi-mi:“MI:0914”(association)	0.350
PLEKHG7	MROH6	psi-mi:“MI:0914”(association)	0.350
EEF1AKMT3	SMCHD1	psi-mi:“MI:0914”(association)	0.350
UBXN6	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
D2HGDH	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
PSG11	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
C9orf163	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
SF3B3	MYO9A	psi-mi:“MI:0914”(association)	0.350
CIAO2A		psi-mi:“MI:0914”(association)	0.350
ODAD2	NR4A2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (26): ARMC4 (Two-hybrid), ARMC4 (Proximity Label-MS), OMA1 (Affinity Capture-MS), FEM1B (Affinity Capture-MS), FBXL4 (Affinity Capture-MS), ARMC4 (Affinity Capture-MS), ARMC4 (Affinity Capture-MS), ARMC4 (Affinity Capture-MS), ARMC4 (Affinity Capture-MS), ARMC4 (Affinity Capture-MS), ARMC4 (Affinity Capture-MS), ARMC4 (Affinity Capture-MS), ARMC4 (Affinity Capture-MS), ARMC4 (Affinity Capture-MS), ARMC4 (Affinity Capture-MS)

ESM2 similar proteins: A0A078CGE6, A1A5R8, A2RT91, A5D8W1, A8WRG3, B0BF33, B0CM26, B0VXE6, B2RY50, D3ZSP7, E1B8W3, F1M7L9, F4JY37, O00522, O14981, O88196, P53804, P70039, P84199, P93002, Q10178, Q14D04, Q1JPG1, Q3TTP0, Q3V129, Q4R3V2, Q5R4B2, Q5R4M2, Q5R9J3, Q5T2S8, Q5U310, Q5XID7, Q640F2, Q6NSI8, Q6S5J6, Q6TNJ1, Q7YZT6, Q7Z5J8, Q86DA5, Q8BH53

Diamond homologs: B2RY50, E1B8W3, Q5T2S8, Q9VM21

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	41
Likely pathogenic	20
Uncertain significance	289
Likely benign	261
Benign	64

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
101070	NM_018076.5(ODAD2):c.1972G>T (p.Glu658Ter)	Pathogenic
1799679	NM_018076.5(ODAD2):c.334del (p.Ile113fs)	Pathogenic
2015120	NM_018076.5(ODAD2):c.2741del (p.Asn914fs)	Pathogenic
2061574	NM_018076.5(ODAD2):c.781_782del (p.Cys261fs)	Pathogenic
2083091	NM_018076.5(ODAD2):c.2807del (p.Asn936fs)	Pathogenic
208997	NM_018076.5(ODAD2):c.1669G>T (p.Glu557Ter)	Pathogenic
2133774	NM_018076.5(ODAD2):c.356dup (p.Leu119fs)	Pathogenic
2137356	NM_018076.5(ODAD2):c.1003G>T (p.Glu335Ter)	Pathogenic
242857	NM_018076.5(ODAD2):c.2495+1G>A	Pathogenic
242858	NM_018076.5(ODAD2):c.1969C>T (p.Gln657Ter)	Pathogenic
242860	NM_018076.5(ODAD2):c.2014G>T (p.Glu672Ter)	Pathogenic
2446288	NM_018076.5(ODAD2):c.1283C>G (p.Ser428Ter)	Pathogenic
2576967	NM_018076.5(ODAD2):c.324dup (p.Arg109fs)	Pathogenic
2714187	NM_018076.5(ODAD2):c.1424C>G (p.Ser475Ter)	Pathogenic
2735387	NM_018076.5(ODAD2):c.247G>T (p.Glu83Ter)	Pathogenic
2779040	NM_018076.5(ODAD2):c.788del (p.Thr263fs)	Pathogenic
2800417	NM_018076.5(ODAD2):c.2845del (p.Cys949fs)	Pathogenic
2801846	NM_018076.5(ODAD2):c.2368C>T (p.Arg790Ter)	Pathogenic
280292	NM_018076.5(ODAD2):c.2406del (p.Leu802_Val803insTer)	Pathogenic
280673	NM_018076.5(ODAD2):c.857_858del (p.Arg286fs)	Pathogenic
2826067	NM_018076.5(ODAD2):c.778_779del (p.Leu260fs)	Pathogenic
2989939	NM_018076.5(ODAD2):c.316C>T (p.Gln106Ter)	Pathogenic
2995359	NM_018076.5(ODAD2):c.1549dup (p.Ile517fs)	Pathogenic
3227120	NM_018076.5(ODAD2):c.395_396del (p.Pro132fs)	Pathogenic
3244906	NC_000010.10:g.(?28101441)(28101574_?)del	Pathogenic
3244907	NC_000010.10:g.(?28149534)(28151571_?)del	Pathogenic
3339104	NM_018076.5(ODAD2):c.2092del (p.Tyr698fs)	Pathogenic
3653518	NM_018076.5(ODAD2):c.2912del (p.Tyr971fs)	Pathogenic
3677573	NM_018076.5(ODAD2):c.1645_1646del (p.Lys549fs)	Pathogenic
3700852	NM_018076.5(ODAD2):c.866C>A (p.Ser289Ter)	Pathogenic

SpliceAI

3928 predictions. Top by Δscore:

Variant	Effect	Δscore
10:27862432:A:AC	donor_gain	1.0000
10:27862433:C:CT	donor_gain	1.0000
10:27862433:CTGT:C	donor_gain	1.0000
10:27862433:CTGTA:C	donor_gain	1.0000
10:27862619:CATC:C	acceptor_gain	1.0000
10:27862621:TC:T	acceptor_gain	1.0000
10:27862621:TCC:T	acceptor_loss	1.0000
10:27862622:CC:C	acceptor_gain	1.0000
10:27862622:CCTA:C	acceptor_loss	1.0000
10:27862623:C:CC	acceptor_gain	1.0000
10:27862623:CTAGA:C	acceptor_loss	1.0000
10:27862624:T:A	acceptor_loss	1.0000
10:27907657:TCTTA:T	donor_loss	1.0000
10:27907658:CTTAC:C	donor_loss	1.0000
10:27907659:TTACC:T	donor_loss	1.0000
10:27907660:TA:T	donor_loss	1.0000
10:27907791:C:CT	acceptor_gain	1.0000
10:27907792:A:T	acceptor_gain	1.0000
10:27935008:A:AC	donor_gain	1.0000
10:27935009:C:CC	donor_gain	1.0000
10:27935009:CAT:C	donor_gain	1.0000
10:27935044:CTG:C	donor_gain	1.0000
10:27936724:A:AC	donor_gain	1.0000
10:27936725:C:CC	donor_gain	1.0000
10:27936727:TGGTA:T	donor_gain	1.0000
10:27936877:CACA:C	acceptor_gain	1.0000
10:27936879:CA:C	acceptor_gain	1.0000
10:27936881:C:CC	acceptor_gain	1.0000
10:27944811:CTCA:C	donor_loss	1.0000
10:27944812:TCA:T	donor_loss	1.0000

AlphaMissense

6839 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:27944412:A:G	L518P	0.999
10:27907743:A:G	W844R	0.997
10:27907743:A:T	W844R	0.997
10:27939928:A:G	L689P	0.997
10:27940705:A:G	L615P	0.997
10:27944399:A:C	S522R	0.997
10:27944399:A:T	S522R	0.997
10:27944401:T:G	S522R	0.997
10:27860677:A:G	L990P	0.996
10:27939913:G:T	A694D	0.996
10:27939949:A:G	L682P	0.996
10:27939961:A:G	L678P	0.996
10:27944298:G:T	A556D	0.996
10:27944299:C:G	A556P	0.996
10:27944841:A:G	L503P	0.996
10:27812552:C:G	R1032P	0.995
10:27862491:A:C	N914K	0.995
10:27862491:A:T	N914K	0.995
10:27936849:A:T	V710D	0.995
10:27939908:C:G	A696P	0.995
10:27940705:A:T	L615Q	0.995
10:27940708:G:T	A614D	0.995
10:27944841:A:T	L503H	0.995
10:27944853:A:G	L499P	0.995
10:27944883:G:T	A489D	0.995
10:27860658:G:C	N996K	0.994
10:27860658:G:T	N996K	0.994
10:27860690:C:G	A986P	0.994
10:27939915:G:C	C693W	0.994
10:27939958:A:T	V679D	0.994

dbSNP variants (sampled 300 via entrez): RS1000048999 (10:27856253 C>T), RS1000062990 (10:27884242 T>C), RS1000098188 (10:27848805 T>C), RS1000101724 (10:27941198 A>C,G), RS1000122536 (10:27847410 G>A), RS1000130145 (10:27891321 C>T), RS1000131355 (10:27935732 T>C), RS1000166134 (10:27952988 A>G), RS1000185693 (10:27850289 A>G), RS1000221946 (10:27867140 G>C,T), RS1000223129 (10:27823872 G>A), RS1000254224 (10:27824035 G>A), RS1000275520 (10:27892381 C>A,T), RS1000291822 (10:27845292 C>A), RS1000317859 (10:27976601 C>T)

Disease associations

OMIM: gene MIM:615408 | disease phenotypes: MIM:615451, MIM:244400

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 23	Definitive	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
primary ciliary dyskinesia 23	Definitive	AR

Mondo (4): primary ciliary dyskinesia 23 (MONDO:0014193), primary ciliary dyskinesia (MONDO:0016575), primary ciliary dyskinesia 1 (MONDO:0009484), male infertility (MONDO:0005372)

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

HPO phenotypes

53 total (30 of 53 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:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0004469	Chronic bronchitis
HP:0005301	Persistent left superior vena cava
HP:0005425	Recurrent sinopulmonary infections
HP:0006532	Recurrent pneumonia

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001762_679	Obesity-related traits	8.000000e-06
GCST002875_97	Diisocyanate-induced asthma	2.000000e-06
GCST004094_8	Prostate-specific antigen levels (conditioned on lead SNPs)	1.000000e-08
GCST006628_12	Systolic blood pressure	5.000000e-17
GCST006979_568	Heel bone mineral density	8.000000e-10
GCST009959_8	Retinal detachment or retinal break	5.000000e-06

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005134	amino acid measurement
EFO:0006995	response to diisocyanate
EFO:0006335	systolic blood pressure
EFO:0009270	heel bone mineral density
EFO:0010698	retinal break

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
D007248	Infertility, Male	C12.100.500.430; C12.100.750.700; C12.200.294.430
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

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	7
Tobacco Smoke Pollution	decreases expression	3
(+)-JQ1 compound	decreases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
kojic acid	increases expression	1
trichostatin A	decreases expression	1
perfluorooctanoic acid	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
perfluorohexanesulfonic acid	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Folic Acid	increases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Smoke	increases abundance, increases expression	1
Tretinoin	decreases expression	1
Vanadates	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02202382	PHASE4	COMPLETED	Effects of Korean Red Ginseng on Male Infertility
NCT02204826	PHASE4	COMPLETED	Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study
NCT03802864	PHASE4	COMPLETED	Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine
NCT06100432	PHASE4	ACTIVE_NOT_RECRUITING	Effect of Eurycoma Longifolia (DLBS5055) and Multivitamins (Vitamin C+Vitamin E+ β-carotene) for Infertile Males
NCT07523022	PHASE4	ENROLLING_BY_INVITATION	Comparison of the Effect of Gonadotropin and Clomiphene Citrate Treatment on Sperm Parameters and the Outcome of Assisted Reproductive Procedures in Subfertile Men Based on the APHRODITE Groups
NCT00975117	PHASE3	COMPLETED	Spermotrend in the Treatment of Male Infertility
NCT01407432	PHASE3	COMPLETED	Impact of Folates in the Care of the Male Infertility
NCT01895816	PHASE3	COMPLETED	Herbal Tonic Fertile Supplement(ZO2C5)
NCT02605070	PHASE3	TERMINATED	Pilot Study on the Effects of FSH Treatment on the Epigenetic Characteristics of Spermatozoa in Infertile Patients With Severe Oligozoospermia
NCT07402759	PHASE3	ACTIVE_NOT_RECRUITING	Impact of tdrd9 Gene Mutations in the Therapeutic Response to L-carnitine in Oligoasthenozoospermic Men
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
NCT01880086	PHASE2	COMPLETED	Clomiphene Citrate for the Treatment of Low Testosterone Associated With Chronic Opioid Pain Medication Administration
NCT02061384	PHASE2	COMPLETED	RA-2 13-cis Retinoic Acid (Isotretinoin)
NCT02421887	PHASE2	COMPLETED	Males, Antioxidants, and Infertility Trial
NCT05200663	PHASE2	UNKNOWN	Efficacy Comparison of Tamoxifen and Tamoxifen With Antioxidants on Semen Quality of Male With Idiopathic Infertility
NCT05290558	PHASE2	ACTIVE_NOT_RECRUITING	The Therapeutic Effects of Bu Shen Yi Jing Pill on Semen Quality in Sub Fertile Males: a Randomized Controlled Trial
NCT06091969	PHASE2	NOT_YET_RECRUITING	Supplementation for Male Subfertility
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
NCT01595308	PHASE1	COMPLETED	A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers
NCT02122211	PHASE1	COMPLETED	Choline Dehydrogenase and Sperm Function: Effects of Betaine
NCT02575924	PHASE1	UNKNOWN	Influence of Culture Media on Clinical Outcomes in Poor Responders or Severe Male Infertility
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