AKNA

Summary

AKNA (AT-hook transcription factor, HGNC:24108) is a protein-coding gene on chromosome 9q32, encoding Microtubule organization protein AKNA (Q7Z591). Centrosomal protein that plays a key role in cell delamination by regulating microtubule organization.

Predicted to enable DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in centrosome; cytosol; and nuclear lumen.

Source: NCBI Gene 80709 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia (Limited, GenCC)
• GWAS associations: 12
• Clinical variants (ClinVar): 352 total — 1 pathogenic
• MANE Select transcript: NM_001317950

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24108
Approved symbol	AKNA
Name	AT-hook transcription factor
Location	9q32
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1968
Ensembl gene	ENSG00000106948
Ensembl biotype	protein_coding
OMIM	605729
Entrez	80709

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000223791, ENST00000307564, ENST00000312033, ENST00000374075, ENST00000374079, ENST00000374088, ENST00000490767, ENST00000491133, ENST00000492875, ENST00000902400, ENST00000902401

RefSeq mRNA: 3 — MANE Select: NM_001317950 NM_001317950, NM_001317952, NM_030767

CCDS: CCDS6805

Canonical transcript exons

ENST00000374088 — 22 exons

Exon	Start	End
ENSE00001462441	114387860	114387982
ENSE00001598592	114381060	114381446
ENSE00001599418	114345863	114346009
ENSE00001617470	114350859	114351021
ENSE00001645207	114362406	114362533
ENSE00001657600	114361704	114361911
ENSE00001666039	114357921	114358167
ENSE00001666348	114364560	114364619
ENSE00001667315	114355925	114356136
ENSE00001683321	114376466	114377532
ENSE00001690555	114334156	114337306
ENSE00001719189	114343708	114343803
ENSE00001744783	114359896	114360062
ENSE00001767694	114347724	114347900
ENSE00001771085	114346669	114346784
ENSE00002733215	114359594	114359794
ENSE00003467974	114374093	114374167
ENSE00003498308	114367543	114367697
ENSE00003522436	114368439	114368595
ENSE00003543158	114341533	114341725
ENSE00003649401	114342009	114342125
ENSE00003672693	114356863	114356969

Expression profiles

Bgee: expression breadth ubiquitous, 218 present calls, max score 98.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.3920 / max 393.4527, expressed in 1643 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102156	8.5008	823
102159	5.4987	1304
102158	3.1024	756
102157	0.7796	258
102149	0.2039	97
102148	0.1997	85
102147	0.0563	22
102139	0.0507	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	98.79	gold quality
blood	UBERON:0000178	97.64	gold quality
bone marrow cell	CL:0002092	97.11	gold quality
spleen	UBERON:0002106	97.08	gold quality
leukocyte	CL:0000738	96.19	gold quality
vermiform appendix	UBERON:0001154	96.14	gold quality
monocyte	CL:0000576	95.98	gold quality
lymph node	UBERON:0000029	95.87	gold quality
right uterine tube	UBERON:0001302	95.56	gold quality
colonic epithelium	UBERON:0000397	93.82	gold quality
ileal mucosa	UBERON:0000331	93.47	gold quality
endocervix	UBERON:0000458	93.21	gold quality
thymus	UBERON:0002370	92.82	gold quality
body of uterus	UBERON:0009853	92.59	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.25	gold quality
caecum	UBERON:0001153	91.88	gold quality
upper lobe of left lung	UBERON:0008952	91.24	gold quality
right lung	UBERON:0002167	91.17	gold quality
sural nerve	UBERON:0015488	90.71	gold quality
left uterine tube	UBERON:0001303	90.54	gold quality
small intestine	UBERON:0002108	90.34	gold quality
fallopian tube	UBERON:0003889	90.18	gold quality
upper lobe of lung	UBERON:0008948	90.14	gold quality
oviduct epithelium	UBERON:0004804	90.01	gold quality
smooth muscle tissue	UBERON:0001135	89.87	gold quality
uterine cervix	UBERON:0000002	89.81	gold quality
right ovary	UBERON:0002118	89.68	gold quality
omental fat pad	UBERON:0010414	89.23	gold quality
tonsil	UBERON:0002372	89.21	gold quality
peritoneum	UBERON:0002358	89.18	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	27.30
E-MTAB-6678	yes	23.45
E-ANND-3	yes	12.95
E-CURD-119	yes	5.28
E-GEOD-149689	no	678.42
E-GEOD-150728	no	593.90
E-GEOD-75367	no	231.38
E-GEOD-124858	no	31.39
E-CURD-112	no	3.35

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

Target	Regulation
CD40	Activation
CD40LG

miRNA regulators (miRDB)

28 targeting AKNA, 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-3163	100.00	77.23	8605
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-4758-3P	99.12	63.96	869
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-4710	98.61	65.96	1048
HSA-MIR-4736	97.96	65.89	1287
HSA-MIR-6742-3P	97.95	64.50	1490
HSA-MIR-6817-5P	97.95	67.86	1026
HSA-MIR-1285-3P	97.72	67.02	1932
HSA-MIR-3144-5P	97.64	65.45	646
HSA-MIR-3928-3P	97.61	66.53	1096
HSA-MIR-320E	97.49	65.96	865
HSA-MIR-6886-3P	96.96	66.36	844
HSA-MIR-503-3P	92.89	66.09	537
HSA-MIR-4655-3P	82.43	62.92	60

Literature-anchored findings (GeneRIF, showing 14)

• AKNA expresses multiple transcripts and protein isoforms as a result of alternative promoter usage, splicing, and polyadenylation. (PMID:15869410)
• Data indicate that AKNA appears to be an important genetic factor associated with the risk cervical cancer. (PMID:20507260)
• significantly decreased expression of CD18 and AKNA suggests a role for both proteins in the pathogenesis of Vogt-Koyanagi-Harada syndrome (PMID:21297967)
• Results support the hypothesis that akna is a cervical cancer susceptibility genetic factor and suggest that akna transcriptional regulation has a role in the disease; identified an association between high akna expression levels and cervical cancer and squamous intraepithelial lesion, but its direction differs in each disease stage. (PMID:25373726)
• identified HIF1A Pro582Ser T allele and C/T genotype as well as AKNA -1372C>A polymorphism A/A genotype as genetic factors associated with Primary Sjogren’s Syndrome. (PMID:28484714)
• Authors suggest that regulatory and coding polymorphisms of the inflammatory modulator gene AKNA can influence the development of KOA. (PMID:29368274)
• We studied the expression profile of the 60 genes located at that genomic region. POLE3 and AKNA were the only two genes deregulated in resistant tumors harboring the 9q32-q33.1 gain (PMID:29618620)
• Epithelial-like neural stem cells divide in the ventricular zone at the ventricles of the embryonic brain, self-renew and generate basal progenitors that delaminate and settle in the subventricular zone in enlarged brain regions; the length of time that cells stay in the subventricular zone is essential for controlling further amplification and fate determination; interphase AKNA has a key role in this process (PMID:30787442)
• An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia. (PMID:32367404)
• Evaluation of Common Variants in the AKNA Gene and Susceptibility to Knee Osteoarthritis Among the Han Chinese. (PMID:32460535)
• AKNA Is a Potential Prognostic Biomarker in Gastric Cancer and Function as a Tumor Suppressor by Modulating EMT-Related Pathways. (PMID:32462010)
• A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family. (PMID:34680889)
• Functional Role of AKNA: A Scoping Review. (PMID:34827707)
• Critical Role of the Transcription Factor AKNA in T-Cell Activation: An Integrative Bioinformatics Approach. (PMID:36835622)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Akna	ENSMUSG00000039158
rattus_norvegicus	Akna	ENSRNOG00000008005

Paralogs (1): AKNAD1 (ENSG00000162641)

Protein

Protein identifiers

Microtubule organization protein AKNA — Q7Z591 (reviewed: Q7Z591)

Alternative names: AT-hook-containing transcription factor

All UniProt accessions (1): Q7Z591

UniProt curated annotations — full annotation on UniProt →

Function. Centrosomal protein that plays a key role in cell delamination by regulating microtubule organization. Required for the delamination and retention of neural stem cells from the subventricular zone during neurogenesis. Also regulates the epithelial-to-mesenchymal transition in other epithelial cells. Acts by increasing centrosomal microtubule nucleation and recruiting nucleation factors and minus-end stabilizers, thereby destabilizing microtubules at the adherens junctions and mediating constriction of the apical endfoot. In addition, may also act as a transcription factor that specifically activates the expression of the CD40 receptor and its ligand CD40L/CD154, two cell surface molecules on lymphocytes that are critical for antigen-dependent-B-cell development. Binds to A/T-rich promoters. It is unclear how it can both act as a microtubule organizer and as a transcription factor; additional evidences are required to reconcile these two apparently contradictory functions.

Subunit / interactions. Interacts with DCTN1. Interacts with MAPRE1/EB1. Interacts with ODF2. Interacts with CAMSAP3.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Nucleus.

Tissue specificity. Predominantly expressed by lymphoid tissues. Highly expressed in the spleen, lymph nodes and peripheral blood leukocytes, expressed at lower level in the thymus. Mainly expressed by germinal center B-lymphocytes, a stage in which receptor and ligand interactions are crucial for B-lymphocyte maturation. Expressed by B- and T-lymphocytes, Natural killer cells and CD1a(+)CD14(-) but not CD1a(-)CD14(+) dendritic cells. Weakly or not expressed in fetal liver and in adult bone marrow.

Post-translational modifications. Phosphorylated; phosphorylation regulates dissociation from and reassembly at the centrosome.

Similarity. Belongs to the AKNA family.

Isoforms (8)

UniProt ID	Names	Canonical?
Q7Z591-1	1, B2, D	yes
Q7Z591-2	2, E
Q7Z591-3	3
Q7Z591-4	4
Q7Z591-5	5, F1
Q7Z591-6	6
Q7Z591-7	7, A
Q7Z591-8	8

RefSeq proteins (3): NP_001304879, NP_001304881, NP_110394 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022150	AKNA_dom	Domain
IPR052655	AKNA_Centrosome-Trans_reg	Family

Pfam: PF12443

UniProt features (63 total): modified residue 16, compositionally biased region 14, region of interest 10, splice variant 9, sequence conflict 7, sequence variant 5, chain 1, DNA-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z591-F1	47.46	0.09

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 (16): 52, 316, 499, 534, 767, 770, 848, 886, 997, 1010, 1172, 1173, 1228, 1377, 1387, 1424

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 181 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, TAATAAT_MIR126, GOBP_INFLAMMATORY_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GOBP_NEUROGENESIS, GOBP_CELL_PROLIFERATION_IN_FOREBRAIN, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_NEURAL_PRECURSOR_CELL_PROLIFERATION, GOBP_CELL_CELL_ADHESION, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_DN, GOBP_MESENCHYMAL_CELL_DIFFERENTIATION, GOCC_CENTROSOME, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, ZHAN_MULTIPLE_MYELOMA_LB_DN

GO Biological Process (7): epithelial to mesenchymal transition (GO:0001837), neuroblast division in subventricular zone (GO:0021849), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of inflammatory response (GO:0050727), delamination (GO:0060232), neuroblast delamination (GO:0060234), nervous system development (GO:0007399)

GO Molecular Function (2): DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (10): fibrillar center (GO:0001650), nucleoplasm (GO:0005654), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), microtubule (GO:0005874), membrane (GO:0016020), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
microtubule organizing center	2
intracellular membraneless organelle	2
mesenchymal cell differentiation	1
cell proliferation in forebrain	1
neuroblast division	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
inflammatory response	1
regulation of defense response	1
regulation of response to external stimulus	1
negative regulation of cell-cell adhesion	1
delamination	1
system development	1
nucleic acid binding	1
binding	1
nucleolus	1
nuclear lumen	1
centriole	1
cytoplasm	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

666 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AKNA	CD1A	P06126	687
AKNA	CD1E	P15812	669
AKNA	GSTP1	P09211	647
AKNA	CD1B	P29016	580
AKNA	CD40LG	P29965	562
AKNA	CD1C	P29017	548
AKNA	CD1D	P15813	497
AKNA	CD40	P25942	490
AKNA	TFPT	P0C1Z6	459
AKNA	GMIP	Q9P107	456
AKNA	AHCTF1	Q8WYP5	430
AKNA	PIBF1	Q8WXW3	420
AKNA	NEK1	Q96PY6	405
AKNA	CIBAR2	Q6ZTR7	402
AKNA	CAMSAP3	Q9P1Y5	399

IntAct

10 interactions, top by confidence:

A	B	Type	Score
LMO1	AKNA	psi-mi:“MI:0915”(physical association)	0.560
AKNA	CD2BP2	psi-mi:“MI:0407”(direct interaction)	0.560
CD2BP2	AKNA	psi-mi:“MI:0407”(direct interaction)	0.560
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
CEP63	CIBAR1	psi-mi:“MI:0914”(association)	0.350
LMO1	AKNA	psi-mi:“MI:0915”(physical association)	0.000
ligA	AKNA	psi-mi:“MI:0915”(physical association)	0.000
purL	AKNA	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (26): AKNA (Affinity Capture-MS), AKNA (Affinity Capture-RNA), LMO1 (Two-hybrid), AKNA (Affinity Capture-RNA), AKNA (Protein-peptide), AKNA (Affinity Capture-MS), AKNA (Affinity Capture-MS), AKNA (Proximity Label-MS), AKNA (Affinity Capture-RNA), AKNA (Proximity Label-MS), AKNA (Proximity Label-MS), AKNA (Proximity Label-MS), AKNA (Proximity Label-MS), AKNA (Proximity Label-MS), AKNA (Proximity Label-MS)

ESM2 similar proteins: A0A096LP49, A0A8V8TNH8, A0A8V8TPE2, A2VE02, A5D7I0, A6NDY2, A6NGG8, A6NIJ5, A6NNJ1, A8MXJ8, A8MYA2, B1ASB6, B2RW88, D6RGX4, O60269, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV75, P0DV76, Q2KIS6, Q2NL68, Q3SY00, Q4R736, Q4V8B5, Q5RCQ2, Q5SZB4, Q5VZ46, Q5XIK6, Q658T7, Q66JV7, Q6NS69, Q6PAC4, Q6ZMY3, Q76N32, Q7TSA6, Q7Z591, Q80VW7, Q80X53

Diamond homologs: Q7Z591, Q80VW7, Q5T1N1, Q8WP21

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	280
Likely benign	29
Benign	9

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
442115	GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1	Pathogenic

SpliceAI

3825 predictions. Top by Δscore:

Variant	Effect	Δscore
9:114337118:ATCTG:A	donor_gain	1.0000
9:114337304:TACCT:T	acceptor_loss	1.0000
9:114337305:ACC:A	acceptor_loss	1.0000
9:114337307:CT:C	acceptor_loss	1.0000
9:114337308:T:C	acceptor_loss	1.0000
9:114340823:C:A	donor_gain	1.0000
9:114341531:A:AC	donor_gain	1.0000
9:114341532:C:CC	donor_gain	1.0000
9:114341532:CA:C	donor_gain	1.0000
9:114341532:CACAG:C	donor_gain	1.0000
9:114347719:CCCA:C	donor_loss	1.0000
9:114347720:CCAC:C	donor_loss	1.0000
9:114347721:CAC:C	donor_loss	1.0000
9:114347722:ACCT:A	donor_loss	1.0000
9:114347897:CTGG:C	acceptor_gain	1.0000
9:114347898:TGG:T	acceptor_gain	1.0000
9:114347901:C:CC	acceptor_gain	1.0000
9:114347906:G:GC	acceptor_gain	1.0000
9:114347907:T:C	acceptor_gain	1.0000
9:114347907:T:TC	acceptor_gain	1.0000
9:114347912:G:C	acceptor_gain	1.0000
9:114347912:G:GC	acceptor_gain	1.0000
9:114347919:C:CT	acceptor_gain	1.0000
9:114347920:A:T	acceptor_gain	1.0000
9:114356146:C:CT	acceptor_gain	1.0000
9:114356147:G:C	acceptor_gain	1.0000
9:114359696:T:TA	donor_gain	1.0000
9:114359711:C:A	donor_gain	1.0000
9:114359720:T:TA	donor_gain	1.0000
9:114359723:T:TA	donor_gain	1.0000

AlphaMissense

9263 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:114374131:C:G	A460P	0.998
9:114374151:A:G	L453P	0.994
9:114376470:A:G	L446P	0.994
9:114374109:A:G	L467P	0.992
9:114374137:C:G	A458P	0.992
9:114356931:A:C	F926L	0.989
9:114356931:A:T	F926L	0.989
9:114356933:A:G	F926L	0.989
9:114374118:A:T	I464N	0.989
9:114374148:A:G	L454P	0.988
9:114356937:A:C	S924R	0.987
9:114356937:A:T	S924R	0.987
9:114356939:T:G	S924R	0.987
9:114374107:G:T	R468S	0.987
9:114374106:C:G	R468P	0.984
9:114376482:A:G	L442P	0.984
9:114374136:G:T	A458D	0.983
9:114374130:G:T	A460D	0.982
9:114374141:C:A	K456N	0.982
9:114374141:C:G	K456N	0.982
9:114347883:A:G	L1080P	0.981
9:114376470:A:T	L446H	0.981
9:114376509:A:G	F433S	0.981
9:114374126:C:A	E461D	0.980
9:114374126:C:G	E461D	0.980
9:114374140:A:C	Y457D	0.980
9:114374140:A:G	Y457H	0.978
9:114374115:T:A	D465V	0.977
9:114374139:T:G	Y457S	0.977
9:114374151:A:T	L453H	0.977

dbSNP variants (sampled 300 via entrez): RS1000007741 (9:114390680 T>A,C), RS1000023709 (9:114340138 T>A), RS1000028383 (9:114384303 G>A,C), RS1000117527 (9:114370152 G>A,C), RS1000133345 (9:114346107 C>G,T), RS1000148981 (9:114361007 C>A), RS1000208075 (9:114362370 C>A,T), RS1000265435 (9:114360703 C>T), RS1000334837 (9:114367054 T>C), RS1000417056 (9:114379770 T>C,G), RS1000450684 (9:114334920 C>T), RS1000459912 (9:114378515 G>A), RS1000523496 (9:114344532 T>C), RS1000580030 (9:114350210 G>A), RS1000596507 (9:114362247 T>A)

Disease associations

OMIM: gene MIM:605729 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia	Limited	Autosomal recessive

Mondo (1): primary ciliary dyskinesia (MONDO:0016575)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST005998_19	Alanine transaminase levels	2.000000e-34
GCST005999_18	Aspartate aminotransferase levels	2.000000e-18
GCST006614_85	Total cholesterol levels	3.000000e-08
GCST010241_50	Apolipoprotein A1 levels	5.000000e-15
GCST010242_329	HDL cholesterol levels	2.000000e-13
GCST011351_13	Aspartate aminotransferase levels	1.000000e-16
GCST011352_33	Alanine aminotransferase levels	1.000000e-40
GCST90011898_116	Alanine aminotransferase levels	8.000000e-124
GCST90011899_175	Aspartate aminotransferase levels	1.000000e-51
GCST90013405_134	Liver enzyme levels (alanine transaminase)	1.000000e-136
GCST90013663_38	Alanine aminotransferase levels	4.000000e-107
GCST90013664_15	Aspartate aminotransferase levels	8.000000e-39

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004736	aspartate aminotransferase measurement
EFO:0004574	total cholesterol measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2250242	AKNA, ORM2	3	1.00	1	docetaxel

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	3
bisphenol A	affects expression, increases expression	2
Air Pollutants	affects expression, increases abundance, increases expression	2
Tunicamycin	increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
Particulate Matter	increases expression, increases abundance	2
GSK-J4	decreases expression	1
sotorasib	decreases expression, affects cotreatment	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	increases expression	1
perfluorooctanoic acid	decreases expression	1
benzo(e)pyrene	affects methylation	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
belinostat	decreases expression	1
jinfukang	increases expression	1
prothioconazole	increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	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)