DNAAF2

Summary

DNAAF2 (dynein axonemal assembly factor 2, HGNC:20188) is a protein-coding gene on chromosome 14q21.3, encoding Protein kintoun (Q9NVR5). Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella.

This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 55172 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 10 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 641 total — 38 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 51
• MANE Select transcript: NM_018139

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20188
Approved symbol	DNAAF2
Name	dynein axonemal assembly factor 2
Location	14q21.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10563, KTU, pf13, CILD10
Ensembl gene	ENSG00000165506
Ensembl biotype	protein_coding
OMIM	612517
Entrez	55172

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000298292, ENST00000406043

RefSeq mRNA: 3 — MANE Select: NM_018139 NM_001083908, NM_001378453, NM_018139

CCDS: CCDS45100, CCDS9691

Canonical transcript exons

ENST00000298292 — 3 exons

Exon	Start	End
ENSE00001093659	49628012	49628155
ENSE00001814912	49625174	49626048
ENSE00003902749	49633287	49635244

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 93.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5780 / max 155.8396, expressed in 1724 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143084	8.1222	1705
143085	0.7486	165
143086	0.5626	236
143087	0.1445	52

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	93.50	gold quality
epithelium of bronchus	UBERON:0002031	89.85	gold quality
oocyte	CL:0000023	89.33	gold quality
bronchus	UBERON:0002185	89.18	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.81	gold quality
mucosa of sigmoid colon	UBERON:0004993	86.57	gold quality
colonic mucosa	UBERON:0000317	84.16	gold quality
embryo	UBERON:0000922	83.63	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.28	gold quality
choroid plexus epithelium	UBERON:0003911	83.18	gold quality
secondary oocyte	CL:0000655	82.88	gold quality
jejunum	UBERON:0002115	82.83	gold quality
jejunal mucosa	UBERON:0000399	82.76	gold quality
right uterine tube	UBERON:0001302	82.53	gold quality
pigmented layer of retina	UBERON:0001782	82.41	gold quality
ganglionic eminence	UBERON:0004023	80.91	gold quality
caput epididymis	UBERON:0004358	80.89	gold quality
mucosa of paranasal sinus	UBERON:0005030	80.68	gold quality
duodenum	UBERON:0002114	80.53	gold quality
endometrium	UBERON:0001295	80.30	gold quality
cortical plate	UBERON:0005343	79.67	gold quality
biceps brachii	UBERON:0001507	79.42	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	79.40	gold quality
penis	UBERON:0000989	79.12	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	79.09	gold quality
nasal cavity mucosa	UBERON:0001826	78.75	gold quality
cerebellar vermis	UBERON:0004720	78.50	gold quality
seminal vesicle	UBERON:0000998	78.42	gold quality
ventricular zone	UBERON:0003053	78.22	gold quality
pons	UBERON:0000988	78.17	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.61

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR1I2

miRNA regulators (miRDB)

24 targeting DNAAF2, 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-5011-5P	100.00	83.46	5820
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-6507-3P	99.35	67.32	1059
HSA-MIR-3606-3P	99.11	69.84	3254
HSA-MIR-12120	98.05	68.44	1768
HSA-MIR-618	97.62	67.46	861

Literature-anchored findings (GeneRIF, showing 3)

• Ktu/PF13 is one of the long-sought proteins involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment. (PMID:19052621)
• Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family. (PMID:32638265)
• Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2. (PMID:38053031)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnaaf2	ENSDARG00000103132
mus_musculus	Dnaaf2	ENSMUSG00000020973
rattus_norvegicus	Dnaaf2	ENSRNOG00000028155
drosophila_melanogaster	Nop17l	FBGN0033224

Paralogs (2): PIH1D1 (ENSG00000104872), PIH1D2 (ENSG00000150773)

Protein

Protein identifiers

Protein kintoun — Q9NVR5 (reviewed: Q9NVR5)

Alternative names: Dynein assembly factor 2, axonemal

All UniProt accessions (1): Q9NVR5

UniProt curated annotations — full annotation on UniProt →

Function. Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.

Subunit / interactions. Interacts with CFAP300. Interacts with DNAAF4. Interacts with DNAAF6/PIH1D3. Interacts with DNAI2 and HSPA1A.

Subcellular location. Cytoplasm. Dynein axonemal particle.

Disease relevance. Ciliary dyskinesia, primary, 10 (CILD10) [MIM:612518] A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. May be due to exon skipping.

Similarity. Belongs to the PIH1 family. Kintoun subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NVR5-1	1	yes
Q9NVR5-2	2

RefSeq proteins (3): NP_001077377, NP_001365382, NP_060609* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012981	PIH1_N	Domain
IPR034727	Kintoun	Family
IPR041442	PIH1D1/2/3_CS-like	Domain
IPR050734	PIH1/Kintoun_subfamily	Family

Pfam: PF08190, PF18201

UniProt features (18 total): modified residue 5, region of interest 4, compositionally biased region 4, sequence variant 2, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVR5-F1	65.57	0.34

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 (5): 467, 640, 641, 773, 461

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 218 (showing top): TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_INNER_DYNEIN_ARM_ASSEMBLY, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_DN, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_CILIUM_ORGANIZATION, GOBP_PROTEIN_STABILIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_OUTER_DYNEIN_ARM_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY

GO Biological Process (10): in utero embryonic development (GO:0001701), epithelial cilium movement involved in extracellular fluid movement (GO:0003351), response to retinoic acid (GO:0032526), outer dynein arm assembly (GO:0036158), inner dynein arm assembly (GO:0036159), protein stabilization (GO:0050821), establishment of localization in cell (GO:0051649), cilium-dependent cell motility (GO:0060285), establishment of left/right asymmetry (GO:0061966), axonemal dynein complex assembly (GO:0070286)

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

GO Cellular Component (10): extracellular region (GO:0005576), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), cilium (GO:0005929), ciliary basal body (GO:0036064), protein folding chaperone complex (GO:0101031), dynein axonemal particle (GO:0120293)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	3
cilium movement	2
axonemal dynein complex assembly	2
nuclear lumen	2
intracellular membraneless organelle	2
chordate embryonic development	1
extracellular transport	1
microtubule-based transport	1
response to lipid	1
response to oxygen-containing compound	1
regulation of protein stability	1
establishment of localization	1
cellular localization	1
cilium or flagellum-dependent cell motility	1
determination of left/right symmetry	1
axoneme assembly	1
protein-containing complex assembly	1
binding	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
microtubule organizing center	1
cilium	1
intracellular protein-containing complex	1

Protein interactions and networks

STRING

750 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAAF2	DNAI2	Q9GZS0	970
DNAAF2	DNAI1	Q9UI46	958
DNAAF2	DNAAF1	Q8NEP3	939
DNAAF2	RSPH4A	Q5TD94	933
DNAAF2	RSPH9	Q9H1X1	926
DNAAF2	DNAH5	Q8TE73	916
DNAAF2	DNAAF6	Q9NQM4	910
DNAAF2	DNAH11	Q96DT5	898
DNAAF2	NME8	Q8N427	893
DNAAF2	DNAAF4	Q8WXU2	857
DNAAF2	DNAAF3	Q8N9W5	799
DNAAF2	DNAAF5	Q86Y56	773
DNAAF2	DNAAF11	Q86X45	770
DNAAF2	RPGR	Q92834	756
DNAAF2	DNAAF19	Q8IW40	728

IntAct

30 interactions, top by confidence:

A	B	Type	Score
LMO1	ZBTB43	psi-mi:“MI:0914”(association)	0.830
DNAAF2	UBE3D	psi-mi:“MI:0914”(association)	0.780
UBE3D	DNAAF2	psi-mi:“MI:0915”(physical association)	0.780
DNAAF2	UBE3D	psi-mi:“MI:0915”(physical association)	0.780
CPSF3	CPSF4	psi-mi:“MI:0914”(association)	0.640
PIN1	POLR2D	psi-mi:“MI:0914”(association)	0.640
LMO3	ZBTB43	psi-mi:“MI:0914”(association)	0.550
DEFA5	NUDT19	psi-mi:“MI:0914”(association)	0.530
KLHDC2	PFDN1	psi-mi:“MI:0914”(association)	0.530
ALOXE3	HSPA8	psi-mi:“MI:0914”(association)	0.530
UBE3D	STIP1	psi-mi:“MI:0914”(association)	0.530
DNAAF4	CALM1	psi-mi:“MI:0914”(association)	0.510
DNAAF2	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
HMGB1	DNAAF2	psi-mi:“MI:0915”(physical association)	0.370
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
CSNK2A2	VWA8	psi-mi:“MI:0914”(association)	0.350
DNAAF2	DNM1L	psi-mi:“MI:0914”(association)	0.350
NFATC1	OBSL1	psi-mi:“MI:0914”(association)	0.350
LCN9	C1QL1	psi-mi:“MI:0914”(association)	0.350
MEMO1	HMBOX1	psi-mi:“MI:0914”(association)	0.350
LMO1	LMX1B	psi-mi:“MI:0914”(association)	0.350
AIP	EL52	psi-mi:“MI:0914”(association)	0.350
POC1A	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
DNAAF2	DNAAF4	psi-mi:“MI:0915”(physical association)	0.000
CALM1	DNAAF2	psi-mi:“MI:0915”(physical association)	0.000
UBE3D	DNAAF2	psi-mi:“MI:0915”(physical association)	0.000
PRPF38A	DNAAF2	psi-mi:“MI:0915”(physical association)	0.000
DNAAF10	DNAAF2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (219): NCAM1 (Affinity Capture-MS), CRMP1 (Affinity Capture-MS), DPYSL3 (Affinity Capture-MS), DPYSL2 (Affinity Capture-MS), DPYSL5 (Affinity Capture-MS), LSAMP (Affinity Capture-MS), STXBP1 (Affinity Capture-MS), ATP4A (Affinity Capture-MS), ATP2B2 (Affinity Capture-MS), HPCA (Affinity Capture-MS), NCALD (Affinity Capture-MS), CAMK2B (Affinity Capture-MS), CAMK2A (Affinity Capture-MS), H2AFY2 (Affinity Capture-MS), STX1A (Affinity Capture-MS)

ESM2 similar proteins: A2AGX3, A4Q9F3, A6QPH9, D3YYI7, E9PGG2, P29590, Q0P5B4, Q0VC73, Q2TBI2, Q3T0G1, Q45KJ4, Q45KJ6, Q4R7H0, Q5BJT4, Q5E9N3, Q5NVM3, Q5PPH4, Q5U208, Q5XI57, Q642B6, Q6P3Z3, Q6P9L4, Q6ZN17, Q6ZVT0, Q70EL4, Q7L4P6, Q8AVK2, Q8BJ25, Q8BUM9, Q8C6D4, Q8CDF7, Q8CE64, Q8CHW1, Q8N554, Q8NA92, Q8NFT6, Q8TC41, Q8VCZ3, Q8WTV1, Q8WY91

Diamond homologs: B1H1W9, B3MG50, B3N9E4, B4GDK5, B4HR78, B4J4Y2, B4KSY3, B4LMK1, B4P238, B6F1W5, P0CU29, Q0E9G3, Q0IEW8, Q0P4V4, Q0VC73, Q292G3, Q499A3, Q5FVL7, Q7Q9F6, Q8BPI1, Q9NVR5, B5BUZ8, Q7ZWY2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	38
Likely pathogenic	7
Uncertain significance	312
Likely benign	211
Benign	21

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1189037	NM_018139.3(DNAAF2):c.26C>A (p.Ser9Ter)	Pathogenic
1189038	NM_018139.3(DNAAF2):c.156C>A (p.Tyr52Ter)	Pathogenic
1322750	NM_018139.3(DNAAF2):c.476dup (p.Phe160fs)	Pathogenic
1437834	NM_018139.3(DNAAF2):c.1312C>T (p.Gln438Ter)	Pathogenic
1454328	NM_018139.3(DNAAF2):c.233dup (p.Arg79fs)	Pathogenic
1456514	NM_018139.3(DNAAF2):c.1300A>T (p.Lys434Ter)	Pathogenic
1736174	NM_018139.3(DNAAF2):c.1159G>T (p.Glu387Ter)	Pathogenic
208847	NM_018139.3(DNAAF2):c.1199_1214dup (p.Gly406fs)	Pathogenic
2109489	NM_018139.3(DNAAF2):c.1309G>T (p.Glu437Ter)	Pathogenic
2114540	NM_018139.3(DNAAF2):c.1906G>T (p.Glu636Ter)	Pathogenic
2135585	NM_018139.3(DNAAF2):c.650del (p.Pro217fs)	Pathogenic
2176205	NM_018139.3(DNAAF2):c.953del (p.Leu318fs)	Pathogenic
2753002	NM_018139.3(DNAAF2):c.1895_1898del (p.Asn632fs)	Pathogenic
2778423	NM_018139.3(DNAAF2):c.1515del (p.Ser506fs)	Pathogenic
2821039	NM_018139.3(DNAAF2):c.754G>T (p.Glu252Ter)	Pathogenic
2881010	NM_018139.3(DNAAF2):c.1166dup (p.Pro390fs)	Pathogenic
2916024	NM_018139.3(DNAAF2):c.1638_1639del (p.Leu548fs)	Pathogenic
3023783	NM_018139.3(DNAAF2):c.1069_1102dup (p.Glu368fs)	Pathogenic
3657948	NM_018139.3(DNAAF2):c.905dup (p.Thr303fs)	Pathogenic
3662769	NM_018139.3(DNAAF2):c.1861G>T (p.Glu621Ter)	Pathogenic
3664428	NM_018139.3(DNAAF2):c.646G>T (p.Glu216Ter)	Pathogenic
3714513	NM_018139.3(DNAAF2):c.399dup (p.Arg134fs)	Pathogenic
411173	NM_018139.3(DNAAF2):c.388G>T (p.Glu130Ter)	Pathogenic
454904	NM_018139.3(DNAAF2):c.226_232dup (p.Leu78fs)	Pathogenic
454905	NM_018139.3(DNAAF2):c.696_702del (p.Ala233fs)	Pathogenic
454914	NM_018139.3(DNAAF2):c.804C>G (p.Tyr268Ter)	Pathogenic
454915	NM_018139.3(DNAAF2):c.829_835dup (p.Val279fs)	Pathogenic
4720792	NM_018139.3(DNAAF2):c.1089del (p.Ala364fs)	Pathogenic
4737919	NM_018139.3(DNAAF2):c.685C>T (p.Gln229Ter)	Pathogenic
4742765	NM_018139.3(DNAAF2):c.1430G>A (p.Trp477Ter)	Pathogenic

SpliceAI

494 predictions. Top by Δscore:

Variant	Effect	Δscore
14:49626049:C:CC	acceptor_gain	1.0000
14:49626051:G:C	acceptor_gain	1.0000
14:49628006:CCTTA:C	donor_loss	1.0000
14:49628007:CTTA:C	donor_loss	1.0000
14:49628008:TTACC:T	donor_loss	1.0000
14:49628009:TACC:T	donor_loss	1.0000
14:49628010:ACCT:A	donor_loss	1.0000
14:49628011:C:T	donor_loss	1.0000
14:49628151:CTTTC:C	acceptor_gain	1.0000
14:49626044:TGCAA:T	acceptor_gain	0.9900
14:49626046:CAA:C	acceptor_gain	0.9900
14:49626047:AA:A	acceptor_gain	0.9900
14:49626048:AC:A	acceptor_loss	0.9900
14:49626049:C:CA	acceptor_loss	0.9900
14:49626050:T:C	acceptor_loss	0.9900
14:49626051:G:GC	acceptor_gain	0.9900
14:49626055:C:CT	acceptor_gain	0.9900
14:49626056:A:T	acceptor_gain	0.9900
14:49626407:TGA:T	donor_gain	0.9800
14:49628152:TTTC:T	acceptor_gain	0.9800
14:49628156:C:A	acceptor_loss	0.9800
14:49628152:TTTCC:T	acceptor_gain	0.9600
14:49628153:TTC:T	acceptor_gain	0.9600
14:49628153:TTCC:T	acceptor_gain	0.9600
14:49628154:TCCTA:T	acceptor_gain	0.9600
14:49628156:C:CC	acceptor_gain	0.9600
14:49628005:T:TA	donor_gain	0.9500
14:49628155:CCTA:C	acceptor_gain	0.9500
14:49626045:GCAA:G	acceptor_gain	0.9200
14:49626046:CAAC:C	acceptor_gain	0.9200

AlphaMissense

5419 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:49635054:G:C	F32L	0.997
14:49635054:G:T	F32L	0.997
14:49635056:A:G	F32L	0.997
14:49634290:A:T	I287N	0.996
14:49635055:A:G	F32S	0.996
14:49634119:A:T	V344D	0.995
14:49634145:G:C	F335L	0.994
14:49634145:G:T	F335L	0.994
14:49634147:A:G	F335L	0.994
14:49634943:G:C	F69L	0.994
14:49634943:G:T	F69L	0.994
14:49634945:A:G	F69L	0.994
14:49635055:A:C	F32C	0.994
14:49634284:A:G	L289P	0.993
14:49634302:A:G	L283P	0.993
14:49634635:A:T	V172D	0.992
14:49634877:A:C	N91K	0.992
14:49634877:A:T	N91K	0.992
14:49634944:A:G	F69S	0.992
14:49634146:A:G	F335S	0.991
14:49634647:G:T	A168D	0.991
14:49634712:G:C	F146L	0.991
14:49634712:G:T	F146L	0.991
14:49634713:A:G	F146S	0.991
14:49634714:A:G	F146L	0.991
14:49635043:A:G	F36S	0.991
14:49634392:G:T	P253H	0.990
14:49634871:G:C	C93W	0.990
14:49634881:A:T	V90E	0.989
14:49635082:A:G	L23P	0.989

dbSNP variants (sampled 300 via entrez): RS1000094253 (14:49625051 T>G), RS1000254573 (14:49633277 G>A,T), RS1000423374 (14:49624718 T>C), RS1000467104 (14:49635835 G>A,C), RS1000776853 (14:49634877 A>G), RS1000837846 (14:49636020 A>G), RS1000989239 (14:49632008 G>A), RS1001229027 (14:49634308 T>A,C), RS1001597178 (14:49625165 C>G), RS1001713234 (14:49629012 G>A,T), RS1001743597 (14:49636740 C>G), RS1001756352 (14:49631057 T>C), RS1001944741 (14:49635220 G>C), RS1002627627 (14:49634775 C>G), RS1003587709 (14:49632823 A>C)

Disease associations

OMIM: gene MIM:612517 | disease phenotypes: MIM:244400, MIM:612518

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 10	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
primary ciliary dyskinesia 10	Definitive	AR

Mondo (3): primary ciliary dyskinesia (MONDO:0016575), primary ciliary dyskinesia 10 (MONDO:0012918), primary ciliary dyskinesia 1 (MONDO:0009484)

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

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: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:0005938	Abnormal respiratory motile cilium morphology
HP:0006536	Airway obstruction

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003114_11	Carotid intima media thickness	2.000000e-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
C567287	Ciliary Dyskinesia, Primary, 10 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	2
triphenyl phosphate	affects expression	1
propionaldehyde	increases methylation	1
nonanal	increases methylation	1
n-hexanal	increases methylation	1
trichostatin A	affects expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
caprylic aldehyde	increases methylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	increases methylation	1
heptanal	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
Rosiglitazone	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Pioglitazone	affects cotreatment, decreases expression, decreases reaction	1
Sunitinib	decreases expression	1
Troglitazone	affects cotreatment, decreases expression, decreases reaction	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Diazinon	increases methylation	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Progesterone	increases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Urethane	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)