DNAAF5

Summary

DNAAF5 (dynein axonemal assembly factor 5, HGNC:26013) is a protein-coding gene on chromosome 7p22.3, encoding Dynein axonemal assembly factor 5 (Q86Y56). Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is a selective cancer dependency (DepMap: 12.8% of cell lines).

The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 54919 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 18 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 895 total — 38 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 61
• Cancer dependency (DepMap): dependent in 12.8% of screened cell lines
• MANE Select transcript: NM_017802

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26013
Approved symbol	DNAAF5
Name	dynein axonemal assembly factor 5
Location	7p22.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18
Ensembl gene	ENSG00000164818
Ensembl biotype	protein_coding
OMIM	614864
Entrez	54919

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 12 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000297440, ENST00000403952, ENST00000437419, ENST00000438961, ENST00000440747, ENST00000461576, ENST00000486546, ENST00000491496, ENST00000852631, ENST00000852632, ENST00000852633, ENST00000852634, ENST00000852635, ENST00000913166, ENST00000913167, ENST00000972191

RefSeq mRNA: 1 — MANE Select: NM_017802 NM_017802

CCDS: CCDS34580

Canonical transcript exons

ENST00000297440 — 13 exons

Exon	Start	End
ENSE00001157478	785517	786475
ENSE00001492797	779953	780144
ENSE00001492800	775006	775162
ENSE00001492802	774048	774198
ENSE00001492805	770471	770618
ENSE00001492807	763806	763974
ENSE00001492809	761753	761896
ENSE00001492815	756782	756994
ENSE00001492818	754589	754821
ENSE00001492828	726699	727315
ENSE00003471494	729663	729847
ENSE00003494206	740819	740943
ENSE00003636543	741347	741465

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 93.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.8005 / max 160.4231, expressed in 1810 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
76869	25.3024	1808
76870	1.4085	912
76871	0.0731	22
76872	0.0164	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	93.32	gold quality
secondary oocyte	CL:0000655	92.99	gold quality
epithelium of bronchus	UBERON:0002031	91.95	gold quality
bronchus	UBERON:0002185	91.35	gold quality
right uterine tube	UBERON:0001302	91.29	gold quality
tibialis anterior	UBERON:0001385	89.51	gold quality
ventricular zone	UBERON:0003053	89.32	gold quality
pancreatic ductal cell	CL:0002079	88.99	gold quality
caput epididymis	UBERON:0004358	88.20	gold quality
stromal cell of endometrium	CL:0002255	88.09	gold quality
oocyte	CL:0000023	87.98	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.85	gold quality
vastus lateralis	UBERON:0001379	87.54	silver quality
quadriceps femoris	UBERON:0001377	87.50	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	86.73	gold quality
ileal mucosa	UBERON:0000331	86.65	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	86.35	gold quality
muscle organ	UBERON:0001630	86.27	gold quality
skeletal muscle organ	UBERON:0014892	86.27	gold quality
gastrocnemius	UBERON:0001388	86.24	gold quality
muscle of leg	UBERON:0001383	86.12	gold quality
skeletal muscle tissue	UBERON:0001134	85.90	gold quality
embryo	UBERON:0000922	85.80	gold quality
body of uterus	UBERON:0009853	85.77	gold quality
nasal cavity epithelium	UBERON:0005384	85.64	gold quality
pituitary gland	UBERON:0000007	85.59	gold quality
biceps brachii	UBERON:0001507	85.59	gold quality
deltoid	UBERON:0001476	85.35	silver quality
diaphragm	UBERON:0001103	85.29	silver quality
right coronary artery	UBERON:0001625	85.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting DNAAF5, 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-4455	100.00	65.48	1587
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-891B	99.59	69.81	1083
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-653-5P	99.46	67.35	1300
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-4312	99.34	67.30	511
HSA-MIR-3614-5P	99.30	65.25	837
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-6815-3P	99.13	68.98	1530

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 12.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• Identification of HEATR2 contributes to the growing number of genes associated with PCD identified in both individuals and model organisms and shows that exome sequencing in family studies facilitates the discovery of novel disease-causing gene mutations. (PMID:23040496)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000104886
mus_musculus	Dnaaf5	ENSMUSG00000025857
rattus_norvegicus	Dnaaf5	ENSRNOG00000021312
drosophila_melanogaster	Dnaaf5	FBGN0288976

Protein

Protein identifiers

Dynein axonemal assembly factor 5 — Q86Y56 (reviewed: Q86Y56)

Alternative names: HEAT repeat-containing protein 2

All UniProt accessions (4): E9PGY2, Q86Y56, H0Y650, H7C3B1

UniProt curated annotations — full annotation on UniProt →

Function. Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility.

Subunit / interactions. Interacts with DNAI2; probably involved in outer arm dynein assembly.

Subcellular location. Cytoplasm. Dynein axonemal particle.

Tissue specificity. Expressed in nasal epithelium and lung epithelium by ciliated cells (at protein level).

Disease relevance. Ciliary dyskinesia, primary, 18 (CILD18) [MIM:614874] 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.

Similarity. Belongs to the DNAAF5 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q86Y56-1	1	yes
Q86Y56-2	2
Q86Y56-3	3

RefSeq proteins (1): NP_060272* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000357	HEAT	Repeat
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR021133	HEAT_type_2	Repeat
IPR034085	TOG	Domain
IPR052623	DAAF5	Family
IPR056497	HEAT_DAAF5	Domain
IPR057978	TPR_DAAF5	Domain

Pfam: PF02985, PF24573, PF25757

UniProt features (22 total): repeat 10, sequence variant 4, sequence conflict 3, splice variant 2, initiator methionine 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86Y56-F1	92.80	0.87

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): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 242 (showing top): chr7p22, GOBP_INNER_DYNEIN_ARM_ASSEMBLY, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_OUTER_DYNEIN_ARM_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, GOCC_MOTILE_CILIUM, GOCC_CILIUM, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, LU_EZH2_TARGETS_DN, GOBP_MICROTUBULE_CYTOSKELETON_ORGANIZATION

GO Biological Process (4): cilium movement (GO:0003341), outer dynein arm assembly (GO:0036158), inner dynein arm assembly (GO:0036159), cell projection organization (GO:0030030)

GO Molecular Function (2): dynein intermediate chain binding (GO:0045505), protein binding (GO:0005515)

GO Cellular Component (6): nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), microtubule cytoskeleton (GO:0015630), mitotic spindle (GO:0072686), dynein axonemal particle (GO:0120293)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
axonemal dynein complex assembly	2
intracellular membraneless organelle	2
cellular anatomical structure	2
cytoplasm	2
microtubule-based movement	1
cellular component organization	1
protein binding	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoskeleton	1
spindle	1

Protein interactions and networks

STRING

610 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAAF5	DNAAF3	Q8N9W5	874
DNAAF5	ZMYND10	O75800	853
DNAAF5	DNAAF11	Q86X45	844
DNAAF5	CFAP298	P57076	822
DNAAF5	SPAG1	Q07617	816
DNAAF5	DNAAF1	Q8NEP3	813
DNAAF5	DNAAF19	Q8IW40	806
DNAAF5	DNAAF4	Q8WXU2	800
DNAAF5	DNAAF6	Q9NQM4	791
DNAAF5	RSPH9	Q9H1X1	789
DNAAF5	RSPH4A	Q5TD94	773
DNAAF5	DNAAF2	Q9NVR5	773
DNAAF5	ODAD2	Q5T2S8	771
DNAAF5	DNAI2	Q9GZS0	769
DNAAF5	DNAI1	Q9UI46	745

IntAct

174 interactions, top by confidence:

A	B	Type	Score
HRAS	RAF1	psi-mi:“MI:0914”(association)	0.980
RFXANK	RFXAP	psi-mi:“MI:0914”(association)	0.780
EZH2	EPOP	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
PLK1	EVI5	psi-mi:“MI:0914”(association)	0.660
B3GAT3	GOLIM4	psi-mi:“MI:0914”(association)	0.640
APLNR	METTL15	psi-mi:“MI:0914”(association)	0.530
SLC15A1	METTL15	psi-mi:“MI:0914”(association)	0.530
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
NT5E	SCAMP1	psi-mi:“MI:0914”(association)	0.530
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
DPEP1	ILVBL	psi-mi:“MI:0914”(association)	0.530
MAS1	POTEF	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
NPY2R	RTL8C	psi-mi:“MI:0914”(association)	0.530
COMTD1	IFRD1	psi-mi:“MI:0914”(association)	0.530
PTGIR	TMEM63A	psi-mi:“MI:0914”(association)	0.530
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.530
CD40	EXOC5	psi-mi:“MI:0914”(association)	0.530
GPR17	IPO8	psi-mi:“MI:0914”(association)	0.530
ILVBL	SLC33A1	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530

BioGRID (212): DNAAF5 (Affinity Capture-RNA), DNAAF5 (Affinity Capture-RNA), DNAI2 (Affinity Capture-Western), DNAAF5 (Affinity Capture-MS), DNAAF5 (Affinity Capture-MS), DNAAF5 (Affinity Capture-MS), DNAAF5 (Affinity Capture-MS), DNAAF5 (Affinity Capture-MS), DNAAF5 (Affinity Capture-MS), DNAAF5 (Affinity Capture-MS), DNAAF5 (Affinity Capture-MS), ADRBK1 (Co-fractionation), DNAAF5 (Co-fractionation), DNAAF5 (Co-fractionation), DNAAF5 (Co-fractionation)

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

Diamond homologs: A0JMW2, B9EJR8, Q86Y56

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 205 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
G alpha (i) signalling events	12	3.8×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	7	8.9×	4e-03
chemotaxis	9	7.1×	3e-03
positive regulation of cytosolic calcium ion concentration	10	6.8×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	38
Likely pathogenic	9
Uncertain significance	351
Likely benign	374
Benign	61

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1367576	NM_017802.4(DNAAF5):c.321_325dup (p.Arg109fs)	Pathogenic
1432731	NM_017802.4(DNAAF5):c.943C>T (p.Gln315Ter)	Pathogenic
1433639	NM_017802.4(DNAAF5):c.745del (p.His249fs)	Pathogenic
1453546	NM_017802.4(DNAAF5):c.1777_1778del (p.Gln593fs)	Pathogenic
1454678	NM_017802.4(DNAAF5):c.2374C>T (p.Arg792Ter)	Pathogenic
1459043	NC_000007.13:g.(?825134)(825290_?)del	Pathogenic
1459975	NC_000007.13:g.(?794206)(825290_?)del	Pathogenic
1786773	NM_017802.4(DNAAF5):c.2152C>T (p.Arg718Ter)	Pathogenic
1943301	NM_017802.4(DNAAF5):c.810_822del (p.Gly271fs)	Pathogenic
1957012	NM_017802.4(DNAAF5):c.987del (p.Phe330fs)	Pathogenic
1958066	NM_017802.4(DNAAF5):c.218G>A (p.Trp73Ter)	Pathogenic
2047643	NM_017802.4(DNAAF5):c.2320_2321del (p.Val774fs)	Pathogenic
241202	NM_017802.4(DNAAF5):c.2353_2354del (p.Ser785fs)	Pathogenic
2426354	NC_000007.13:g.(?766358)(825290_?)del	Pathogenic
2426356	NC_000007.13:g.(?766358)(769504_?)del	Pathogenic
2728813	NM_017802.4(DNAAF5):c.763_766del (p.Phe255fs)	Pathogenic
2801871	NM_017802.4(DNAAF5):c.322_349dup (p.Leu117fs)	Pathogenic
2845698	NM_017802.4(DNAAF5):c.1219dup (p.Gln407fs)	Pathogenic
2857008	NM_017802.4(DNAAF5):c.707_717del (p.His236fs)	Pathogenic
2911339	NM_017802.4(DNAAF5):c.960_961del (p.Asn320fs)	Pathogenic
2916345	NM_017802.4(DNAAF5):c.349_370del (p.Leu117fs)	Pathogenic
3692648	NM_017802.4(DNAAF5):c.685G>T (p.Glu229Ter)	Pathogenic
4074981	NM_017802.4(DNAAF5):c.1932-2A>C	Pathogenic
4278018	NM_017802.4(DNAAF5):c.1988_2030dup (p.Ser679fs)	Pathogenic
4294409	NM_017802.4(DNAAF5):c.2289del (p.Ala764fs)	Pathogenic
454854	NM_017802.4(DNAAF5):c.1784-1G>T	Pathogenic
454860	NM_017802.4(DNAAF5):c.2346C>G (p.Tyr782Ter)	Pathogenic
454864	NM_017802.4(DNAAF5):c.363_373del (p.Ala122fs)	Pathogenic
454865	NM_017802.4(DNAAF5):c.489_498del (p.His163fs)	Pathogenic
4708565	NM_017802.4(DNAAF5):c.308dup (p.Leu104fs)	Pathogenic

SpliceAI

3265 predictions. Top by Δscore:

Variant	Effect	Δscore
7:729843:CGCAG:C	donor_loss	1.0000
7:729844:GCAGG:G	donor_loss	1.0000
7:729845:CAG:C	donor_loss	1.0000
7:729846:AG:A	donor_loss	1.0000
7:729847:GG:G	donor_loss	1.0000
7:729848:G:GA	donor_loss	1.0000
7:729849:T:G	donor_loss	1.0000
7:740941:CAGGT:C	donor_loss	1.0000
7:740942:AGG:A	donor_loss	1.0000
7:740943:GG:G	donor_loss	1.0000
7:740944:G:A	donor_loss	1.0000
7:754581:C:CA	acceptor_gain	1.0000
7:754584:TCCA:T	acceptor_loss	1.0000
7:754586:CAG:C	acceptor_gain	1.0000
7:754586:CAGAG:C	acceptor_loss	1.0000
7:754587:A:AG	acceptor_gain	1.0000
7:754587:AGA:A	acceptor_gain	1.0000
7:754587:AGAGC:A	acceptor_gain	1.0000
7:754588:G:GA	acceptor_gain	1.0000
7:754588:GA:G	acceptor_gain	1.0000
7:754588:GAG:G	acceptor_gain	1.0000
7:754588:GAGC:G	acceptor_gain	1.0000
7:754588:GAGCG:G	acceptor_gain	1.0000
7:754801:G:GT	donor_gain	1.0000
7:754814:TCCA:T	donor_gain	1.0000
7:754817:AAAGT:A	donor_gain	1.0000
7:754818:AAGT:A	donor_gain	1.0000
7:754819:AGTGT:A	donor_loss	1.0000
7:754820:GT:G	donor_gain	1.0000
7:754821:TG:T	donor_loss	1.0000

AlphaMissense

5450 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:754677:G:C	W371C	0.996
7:754677:G:T	W371C	0.996
7:729737:C:A	R224S	0.995
7:740852:T:A	W272R	0.995
7:740852:T:C	W272R	0.995
7:741366:T:A	W309R	0.995
7:741366:T:C	W309R	0.995
7:741379:G:A	G313D	0.994
7:741387:T:A	W316R	0.994
7:741387:T:C	W316R	0.994
7:754675:T:A	W371R	0.994
7:754675:T:C	W371R	0.994
7:727276:A:C	S186R	0.993
7:727278:C:A	S186R	0.993
7:727278:C:G	S186R	0.993
7:741378:G:C	G313R	0.993
7:754691:G:C	R376P	0.992
7:740820:T:A	V261D	0.991
7:754613:G:C	R350P	0.991
7:754619:T:C	L352P	0.991
7:729755:G:C	A230P	0.990
7:754709:T:C	L382P	0.990
7:754606:G:C	G348R	0.989
7:754622:T:A	V353D	0.989
7:729669:T:C	F201S	0.988
7:740856:T:C	L273P	0.988
7:740873:C:A	R279S	0.988
7:727255:T:C	F179L	0.987
7:727257:C:A	F179L	0.987
7:727257:C:G	F179L	0.987

dbSNP variants (sampled 300 via entrez): RS1000055280 (7:762445 C>A,G), RS1000087432 (7:757806 G>A), RS1000122338 (7:727238 G>A), RS1000193368 (7:750247 C>T), RS1000215655 (7:737642 T>G), RS1000224139 (7:750351 C>A,T), RS1000272451 (7:762622 T>C), RS1000298928 (7:770070 G>C), RS1000304517 (7:781735 G>A), RS1000340129 (7:784718 G>A), RS1000350265 (7:766724 T>G), RS1000378297 (7:781608 T>A), RS1000385357 (7:754340 G>A,C), RS1000474638 (7:745647 A>G), RS1000485034 (7:784577 C>G,T)

Disease associations

OMIM: gene MIM:614864 | disease phenotypes: MIM:244400, MIM:614874, MIM:181500, MIM:310300

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 18	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 18	Definitive	AR

Mondo (4): primary ciliary dyskinesia (MONDO:0016575), primary ciliary dyskinesia 18 (MONDO:0013940), schizophrenia (MONDO:0005090), Emery-Dreifuss muscular dystrophy (MONDO:0016830)

Orphanet (3): Primary ciliary dyskinesia (Orphanet:244), Emery-Dreifuss muscular dystrophy (Orphanet:261), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

61 total (30 of 61 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:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0004469	Chronic bronchitis
HP:0005301	Persistent left superior vena cava

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004070_14	Cerebrospinal P-tau181p levels	5.000000e-07
GCST005023_26	Initial pursuit acceleration	4.000000e-06
GCST90011892_5	Retinitis pigmentosa	8.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004763	p-tau measurement
EFO:0008434	initial pursuit acceleration

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
D020389	Muscular Dystrophy, Emery-Dreifuss	C05.651.534.500.350; C10.668.491.175.500.350; C16.320.322.625; C16.320.577.350

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects expression, increases expression, affects cotreatment	3
bisphenol F	increases methylation, decreases expression, affects cotreatment	2
bisphenol A	decreases methylation, increases expression	2
sodium arsenite	decreases expression, increases expression	2
bisphenol S	decreases methylation, affects cotreatment, decreases expression	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
TAK-243	increases sumoylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
beta-methylcholine	affects expression	1
perfluoro-n-nonanoic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
perfluorohexanesulfonic acid	increases expression	1
NSC 689534	affects binding, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Bortezomib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Copper	affects binding, decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Hydralazine	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Phthalic Acids	decreases methylation	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	affects methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00169039	PHASE4	TERMINATED	Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065	PHASE4	COMPLETED	Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091	PHASE4	TERMINATED	Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423	PHASE4	COMPLETED	Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436	PHASE4	COMPLETED	Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients
NCT00177008	PHASE4	COMPLETED	Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety