GAS2L2

Summary

GAS2L2 (growth arrest specific 2 like 2, HGNC:24846) is a protein-coding gene on chromosome 17q12, encoding GAS2-like protein 2 (Q8NHY3). Involved in the cross-linking of microtubules and microfilaments.

The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle.

Source: NCBI Gene 246176 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliary dyskinesia, primary, 41 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 224 total — 1 pathogenic
• Phenotypes (HPO): 52
• MANE Select transcript: NM_139285

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24846
Approved symbol	GAS2L2
Name	growth arrest specific 2 like 2
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	GAR17
Ensembl gene	ENSG00000270765
Ensembl biotype	protein_coding
OMIM	611398
Entrez	246176

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000604641, ENST00000852135, ENST00000852136

RefSeq mRNA: 1 — MANE Select: NM_139285 NM_139285

CCDS: CCDS11298

Canonical transcript exons

ENST00000604641 — 6 exons

Exon	Start	End
ENSE00000000103	35752466	35753239
ENSE00003526260	35747849	35747945
ENSE00003541267	35749110	35749217
ENSE00003596346	35750077	35750318
ENSE00003599314	35747016	35747268
ENSE00003692937	35744511	35746411

Expression profiles

Bgee: expression breadth ubiquitous, 103 present calls, max score 94.65.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0509 / max 13.6996, expressed in 29 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165387	0.0509	29

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	94.65	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	84.29	gold quality
bronchial epithelial cell	CL:0002328	76.23	gold quality
bronchus	UBERON:0002185	74.62	gold quality
fallopian tube	UBERON:0003889	65.68	gold quality
nasal cavity mucosa	UBERON:0001826	64.46	gold quality
right lung	UBERON:0002167	61.95	gold quality
cauda epididymis	UBERON:0004360	61.81	gold quality
corpus epididymis	UBERON:0004359	61.76	gold quality
decidua	UBERON:0002450	61.62	gold quality
parotid gland	UBERON:0001831	61.54	gold quality
caput epididymis	UBERON:0004358	61.43	gold quality
trabecular bone tissue	UBERON:0002483	60.95	gold quality
nasal cavity epithelium	UBERON:0005384	60.93	gold quality
caudate nucleus	UBERON:0001873	60.63	gold quality
hindlimb stylopod muscle	UBERON:0004252	59.36	gold quality
nucleus accumbens	UBERON:0001882	59.32	gold quality
cortical plate	UBERON:0005343	59.29	silver quality
left uterine tube	UBERON:0001303	59.21	gold quality
cerebellar vermis	UBERON:0004720	59.09	gold quality
gingival epithelium	UBERON:0001949	58.55	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	58.23	gold quality
putamen	UBERON:0001874	57.66	gold quality
pons	UBERON:0000988	57.01	gold quality
muscle of leg	UBERON:0001383	56.84	gold quality
gingiva	UBERON:0001828	56.79	gold quality
mucosa of paranasal sinus	UBERON:0005030	56.73	gold quality
oral cavity	UBERON:0000167	56.14	gold quality
gastrocnemius	UBERON:0001388	56.07	gold quality
buccal mucosa cell	CL:0002336	55.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting GAS2L2, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-4717-3P	99.06	66.34	1072
HSA-MIR-6871-5P	98.90	66.67	671
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-7843-5P	98.12	65.26	1421
HSA-MIR-1245B-3P	98.01	68.91	1387
HSA-MIR-4468	98.01	66.85	1187
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-3198	97.84	65.64	579
HSA-MIR-4309	97.84	65.45	588
HSA-MIR-4632-5P	97.82	65.38	1470
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-5192	96.89	63.35	879
HSA-MIR-7847-3P	96.63	64.58	952
HSA-MIR-571	95.38	66.54	671

Literature-anchored findings (GeneRIF, showing 4)

• The beta isoforms of hGAR17 and hGAR22 appear to be able to crosslink microtubules and microfilaments (PMID:12584248)
• GAS2L1 and GAS2L2 are differentially involved in mediating the crosstalk between F-actin and microtubules. (PMID:24706950)
• results show that a pathogenic variant in GAS2L2 causes a genetic defect in ciliary orientation and impairs mucociliary clearance and results in primary ciliary dyskinesia (PMID:30665704)
• A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia. (PMID:36104176)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gas2l2	ENSMUSG00000020686
rattus_norvegicus	Gas2l2	ENSRNOG00000047546
drosophila_melanogaster	jbug	FBGN0028371

Paralogs (36): SYNE2 (ENSG00000054654), SPTB (ENSG00000070182), ACTN1 (ENSG00000072110), ACTN2 (ENSG00000077522), DSP (ENSG00000096696), DRP2 (ENSG00000102385), SPTBN1 (ENSG00000115306), MACF1 (ENSG00000127603), FLNC (ENSG00000128591), ACTN4 (ENSG00000130402), SYNE1 (ENSG00000131018), MICAL2 (ENSG00000133816), DTNA (ENSG00000134769), MICAL1 (ENSG00000135596), FLNB (ENSG00000136068), SPTBN5 (ENSG00000137877), DTNB (ENSG00000138101), GAS2L3 (ENSG00000139354), DST (ENSG00000151914), UTRN (ENSG00000152818), SPTBN4 (ENSG00000160460), SPTA1 (ENSG00000163554), CLMN (ENSG00000165959), PKHD1 (ENSG00000170927), SPTBN2 (ENSG00000173898), SYNE3 (ENSG00000176438), PLEC (ENSG00000178209), SMTNL2 (ENSG00000188176), FLNA (ENSG00000196924), SPTAN1 (ENSG00000197694), DMD (ENSG00000198947), PKHD1L1 (ENSG00000205038), DYTN (ENSG00000232125), MICAL3 (ENSG00000243156), ACTN3 (ENSG00000248746), EPPK1 (ENSG00000261150)

Protein

Protein identifiers

GAS2-like protein 2 — Q8NHY3 (reviewed: Q8NHY3)

Alternative names: GAS2-related protein on chromosome 17, Growth arrest-specific protein 2-like 2

All UniProt accessions (1): Q8NHY3

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the cross-linking of microtubules and microfilaments. Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking proteins, such as MAPRE1, to regulate microtubule growth along actin stress fibers. Enhances ADORA2-mediated adenylyl cyclase activation by acting as a scaffold to recruit trimeric G-protein complexes to ADORA2A. Regulates ciliary orientation and performance in cells located in the airway.

Subunit / interactions. Interacts with ADORA2A (via its cytoplasmic C-terminal domain). Interacts with GNAS, GNAL, GNAQ, and GNA13. Interacts with MAPRE1.

Subcellular location. Cytoplasm. Cytoskeleton. Cell membrane. Stress fiber. Cilium basal body.

Tissue specificity. Expressed in bronchial and nasal epithelial cells (at protein level). Expressed in brain, kidney, lung, testis, fallopian tubes, and skeletal muscle. Expressed at low levels in stomach and colon.

Disease relevance. Ciliary dyskinesia, primary, 41 (CILD41) [MIM:618449] A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD41 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. Absence of GAS2L2 results in ciliary orientation defect and affects performance of cilia.

Similarity. Belongs to the GAS2 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NHY3-1	1, Beta	yes
Q8NHY3-2	2, Alpha

RefSeq proteins (1): NP_644814* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001715	CH_dom	Domain
IPR003108	GAR_dom	Domain
IPR036534	GAR_dom_sf	Homologous_superfamily
IPR036872	CH_dom_sf	Homologous_superfamily

Pfam: PF00307, PF02187

UniProt features (26 total): compositionally biased region 6, region of interest 6, mutagenesis site 5, sequence variant 4, domain 2, splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NHY3-F1	56.13	0.21

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (5):

Position	Phenotype
369–370	loss of microtubule-end localization, microtubule plus-end tracking, and decreases mapre1 binding; when associated with
458–459	loss of microtubule-end localization, microtubule plus-end tracking, and decreases mapre1 binding; when associated with
503–504	loss of microtubule-end localization, microtubule plus-end tracking, and decreases mapre1 binding; when associated with
590–591	loss of microtubule-end localization, microtubule plus-end tracking, and decreases mapre1 binding; when associated with
795–796	loss of microtubule-end localization, microtubule plus-end tracking, and decreases mapre1 binding; when associated with

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 198 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_MICROTUBULE_DEPOLYMERIZATION, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_DISASSEMBLY, GOBP_PROTEIN_DEPOLYMERIZATION, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOMF_ACTIN_BINDING

GO Biological Process (7): microtubule bundle formation (GO:0001578), negative regulation of microtubule depolymerization (GO:0007026), regulation of microtubule polymerization or depolymerization (GO:0031110), positive regulation of G protein-coupled receptor signaling pathway (GO:0045745), actin crosslink formation (GO:0051764), regulation of cilium beat frequency involved in ciliary motility (GO:0060296), protein localization to microtubule plus-end (GO:1904825)

GO Molecular Function (5): G-protein alpha-subunit binding (GO:0001965), microtubule binding (GO:0008017), cytoskeletal adaptor activity (GO:0008093), actin filament binding (GO:0051015), protein binding (GO:0005515)

GO Cellular Component (10): stress fiber (GO:0001725), cytoplasm (GO:0005737), plasma membrane (GO:0005886), ciliary basal body (GO:0036064), cytoskeleton (GO:0005856), microtubule (GO:0005874), actin filament (GO:0005884), membrane (GO:0016020), microtubule plus-end (GO:0035371), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
polymeric cytoskeletal fiber	2
microtubule cytoskeleton organization	1
microtubule depolymerization	1
negative regulation of microtubule polymerization or depolymerization	1
regulation of microtubule depolymerization	1
negative regulation of protein depolymerization	1
negative regulation of supramolecular fiber organization	1
microtubule polymerization or depolymerization	1
regulation of microtubule cytoskeleton organization	1
G protein-coupled receptor signaling pathway	1
regulation of G protein-coupled receptor signaling pathway	1
positive regulation of signal transduction	1
actin filament organization	1
regulation of cilium beat frequency	1
regulation of cilium movement involved in cell motility	1
regulation of biological quality	1
protein localization to microtubule end	1
protein binding	1
tubulin binding	1
cytoskeletal protein binding	1
protein-macromolecule adaptor activity	1
actin binding	1
protein-containing complex binding	1
binding	1
actomyosin	1
contractile actin filament bundle	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
microtubule organizing center	1
cilium	1
intracellular membraneless organelle	1
microtubule cytoskeleton	1
actin cytoskeleton	1
microtubule end	1

Protein interactions and networks

STRING

862 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GAS2L2	LIPI	Q6XZB0	815
GAS2L2	RASL10A	Q92737	812
GAS2L2	SPA17	Q15506	767
GAS2L2	LRRC56	Q8IYG6	635
GAS2L2	CFAP221	Q4G0U5	507
GAS2L2	DNAH9	Q9NYC9	475
GAS2L2	SHISA3	A0PJX4	468
GAS2L2	DNAH3	Q8TD57	460
GAS2L2	HEATR9	A2RTY3	451
GAS2L2	DNAH11	Q96DT5	449
GAS2L2	TTC12	Q9H892	447
GAS2L2	LDLRAD1	Q5T700	430
GAS2L2	AP1B1	P78436	424
GAS2L2	DNAH6	Q9C0G6	424
GAS2L2	VWDE	Q8N2E2	412

IntAct

251 interactions, top by confidence:

A	B	Type	Score
GAS2L2	PICK1	psi-mi:“MI:0915”(physical association)	0.680
GAS2L2	MAPRE3	psi-mi:“MI:0915”(physical association)	0.670
MAPRE1	GAS2L2	psi-mi:“MI:0915”(physical association)	0.670
MAPRE2	GAS2L2	psi-mi:“MI:0915”(physical association)	0.670
GAS2L2	MAPRE1	psi-mi:“MI:0914”(association)	0.670
ERBIN	GAS2L2	psi-mi:“MI:0915”(physical association)	0.610
GAS2L2	ERBIN	psi-mi:“MI:0407”(direct interaction)	0.610
GAS2L2	DNAAF6	psi-mi:“MI:0915”(physical association)	0.600
DNAAF6	GAS2L2	psi-mi:“MI:0915”(physical association)	0.600
GAS2L2	CCDC120	psi-mi:“MI:0915”(physical association)	0.560
GAS2L2	FXR1	psi-mi:“MI:0915”(physical association)	0.560
GAS2L2	CASQ1	psi-mi:“MI:0915”(physical association)	0.560
GAS2L2	KANK2	psi-mi:“MI:0915”(physical association)	0.560
GAS2L2	TRAF2	psi-mi:“MI:0915”(physical association)	0.560
GAS2L2	LTV1	psi-mi:“MI:0915”(physical association)	0.560
GAS2L2		psi-mi:“MI:0915”(physical association)	0.560
GAS2L2	SNW1	psi-mi:“MI:0915”(physical association)	0.560
FXR1	GAS2L2	psi-mi:“MI:0915”(physical association)	0.560
CASQ1	GAS2L2	psi-mi:“MI:0915”(physical association)	0.560
KANK2	GAS2L2	psi-mi:“MI:0915”(physical association)	0.560
TRAF2	GAS2L2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (59): GAS2L2 (Synthetic Lethality), GAS2L2 (Two-hybrid), GAS2L2 (Two-hybrid), GAS2L2 (Two-hybrid), GAS2L2 (Two-hybrid), GAS2L2 (Two-hybrid), GAS2L2 (Two-hybrid), GAS2L2 (Two-hybrid), GAS2L2 (Two-hybrid), GAS2L2 (Two-hybrid), GAS2L2 (Two-hybrid), GAS2L2 (Two-hybrid), GAS2L2 (Two-hybrid), GAS2L2 (Two-hybrid), GAS2L2 (Two-hybrid)

ESM2 similar proteins: A0A1B0GVZ6, A5D7I0, A6H7B4, A6NDZ8, A6NE82, A6NJ08, A6NJB7, A6NJI1, A6NL46, A6QP24, A8MUA0, A8MUI8, A8MV72, A8MX80, B2RW88, O94850, P0C6A0, P24097, P50617, Q0P5M0, Q0VD86, Q2KIL8, Q3B8N5, Q3SY00, Q3SYA9, Q3UN58, Q5BMD4, Q5JTZ5, Q5RBE4, Q5VZ46, Q66MI6, Q68US1, Q6GQV0, Q6PAC4, Q80TS7, Q80VY2, Q8BFY7, Q8BII1, Q8IXW0, Q8K2F3

Diamond homologs: A0A1L8H8C0, A0A1L8HFX9, D3ZHV2, D3ZUE1, O43903, O94854, P11862, Q03001, Q3UWW6, Q5SSG4, Q69ZZ9, Q86XJ1, Q8JZP9, Q8NHY3, Q91ZU6, Q99501, Q9QXZ0, Q9UPN3, Q9W3Y4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 97 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
Ras activation upon Ca2+ influx through NMDA receptor	5	46.8×	5e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	44.6×	5e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	44.6×	5e-06
Long-term potentiation	5	39.0×	8e-06
Assembly and cell surface presentation of NMDA receptors	7	29.1×	1e-06
Neurexins and neuroligins	7	22.6×	4e-06

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	64.6×	1e-13
receptor clustering	7	48.5×	3e-08
protein localization to synapse	5	42.6×	1e-05
regulation of postsynaptic membrane neurotransmitter receptor levels	7	38.5×	1e-07
cell-cell adhesion	8	9.0×	3e-04
protein-containing complex assembly	6	7.6×	7e-03
chemical synaptic transmission	7	6.0×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	157
Likely benign	41
Benign	22

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2505513	NM_139285.4(GAS2L2):c.208A>G (p.Asn70Asp)	Pathogenic

SpliceAI

1098 predictions. Top by Δscore:

Variant	Effect	Δscore
17:35747104:G:C	donor_gain	1.0000
17:35747284:C:T	acceptor_gain	1.0000
17:35750071:CCTCA:C	donor_loss	1.0000
17:35750072:CTCAC:C	donor_loss	1.0000
17:35750073:TCACC:T	donor_loss	1.0000
17:35750074:CAC:C	donor_loss	1.0000
17:35750075:A:T	donor_loss	1.0000
17:35750076:C:CG	donor_loss	1.0000
17:35750076:CCAT:C	donor_gain	1.0000
17:35750171:T:TA	donor_gain	1.0000
17:35750314:CACCT:C	acceptor_gain	1.0000
17:35750315:ACCT:A	acceptor_gain	1.0000
17:35750316:CCTC:C	acceptor_gain	1.0000
17:35750317:CT:C	acceptor_gain	1.0000
17:35750319:C:CC	acceptor_gain	1.0000
17:35750319:C:CG	acceptor_loss	1.0000
17:35750324:G:C	acceptor_gain	1.0000
17:35750324:G:GC	acceptor_gain	1.0000
17:35750331:C:CT	acceptor_gain	1.0000
17:35750332:G:T	acceptor_gain	1.0000
17:35752461:GTTA:G	donor_loss	1.0000
17:35752462:TTACC:T	donor_loss	1.0000
17:35752464:A:AG	donor_loss	1.0000
17:35752465:CCT:C	donor_loss	1.0000
17:35746410:ACCT:A	acceptor_loss	0.9900
17:35746412:C:CA	acceptor_loss	0.9900
17:35747103:AG:A	donor_gain	0.9900
17:35747131:T:TA	donor_gain	0.9900
17:35747284:C:CT	acceptor_gain	0.9900
17:35747285:G:T	acceptor_gain	0.9900

AlphaMissense

5651 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:35747904:C:A	W259C	0.999
17:35747904:C:G	W259C	0.999
17:35747906:A:G	W259R	0.999
17:35747906:A:T	W259R	0.999
17:35750305:G:C	F133L	0.997
17:35750305:G:T	F133L	0.997
17:35750307:A:G	F133L	0.997
17:35752493:A:G	W120R	0.997
17:35752493:A:T	W120R	0.997
17:35752527:G:C	F108L	0.997
17:35752527:G:T	F108L	0.997
17:35752529:A:G	F108L	0.997
17:35752512:A:C	N113K	0.995
17:35752512:A:T	N113K	0.995
17:35749176:G:C	F223L	0.994
17:35749176:G:T	F223L	0.994
17:35749178:A:G	F223L	0.994
17:35750306:A:G	F133S	0.994
17:35752491:C:A	W120C	0.994
17:35752491:C:G	W120C	0.994
17:35752645:G:T	A69D	0.994
17:35749111:C:G	R245P	0.993
17:35749148:A:C	Y233D	0.993
17:35752501:A:G	F117S	0.993
17:35752730:A:G	W41R	0.993
17:35752730:A:T	W41R	0.993
17:35747905:C:G	W259S	0.992
17:35749147:T:G	Y233S	0.992
17:35749148:A:G	Y233H	0.991
17:35752490:A:G	C121R	0.991

dbSNP variants (sampled 300 via entrez): RS1000531601 (17:35745580 C>A), RS1000770382 (17:35754837 A>G), RS1001223908 (17:35755054 G>C), RS1001591251 (17:35748809 G>A), RS1001807562 (17:35744507 G>A), RS1002155199 (17:35744233 T>G), RS1002285986 (17:35754181 G>T), RS1002499562 (17:35753915 G>C), RS1002857387 (17:35753532 C>A), RS1003239416 (17:35752385 A>G), RS1003604300 (17:35746539 G>A), RS1003656483 (17:35746773 G>T), RS1005957010 (17:35746817 C>G), RS1006349786 (17:35751108 C>T), RS1006402343 (17:35751423 T>C,G)

Disease associations

OMIM: gene MIM:611398 | disease phenotypes: MIM:618449, MIM:608644, MIM:244400

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 41	Strong	Autosomal recessive
primary ciliary dyskinesia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 41	Moderate	AR

Mondo (3): ciliary dyskinesia, primary, 41 (MONDO:0032757), primary ciliary dyskinesia 3 (MONDO:0012085), primary ciliary dyskinesia (MONDO:0016575)

Orphanet (1): Primary ciliary dyskinesia (Orphanet:244)

HPO phenotypes

52 total (30 of 52 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:0000789	Infertility
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:0006536	Airway obstruction

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007001_12	Cerebrospinal AB1-42 levels in normal cognition	4.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004670	beta-amyloid 1-42 measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480
C535278	Primary ciliary dyskinesia, 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases expression	5
ethyl-p-hydroxybenzoate	decreases expression	1
terbufos	increases methylation	1
sodium arsenite	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Fonofos	increases methylation	1
Parathion	increases methylation	1
Smoke	increases abundance, increases expression	1
Aflatoxin B1	increases 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)