NANOS1

Summary

NANOS1 (nanos C2HC-type zinc finger 1, HGNC:23044) is a protein-coding gene on chromosome 10q26.11, encoding Nanos homolog 1 (Q8WY41). May act as a translational repressor which regulates translation of specific mRNAs by forming a complex with PUM2 that associates with the 3’-UTR of mRNA targets.

This gene encodes a CCHC-type zinc finger protein that is a member of the nanos family. This protein co-localizes with the RNA-binding protein pumilio RNA-binding family member 2 and may be involved in regulating translation as a post-transcriptional repressor. Mutations in this gene are associated with spermatogenic impairment.

Source: NCBI Gene 340719 — RefSeq curated summary.

At a glance

• Gene–disease (curated): male infertility with azoospermia or oligozoospermia due to single gene mutation (Supportive, GenCC) — +2 more curated relationships
• GWAS associations: 19
• Clinical variants (ClinVar): 319 total — 1 pathogenic
• Phenotypes (HPO): 20
• MANE Select transcript: NM_199461

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23044
Approved symbol	NANOS1
Name	nanos C2HC-type zinc finger 1
Location	10q26.11
Locus type	gene with protein product
Status	Approved
Aliases	NOS1
Ensembl gene	ENSG00000188613
Ensembl biotype	protein_coding
OMIM	608226
Entrez	340719

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000340087, ENST00000425699

RefSeq mRNA: 1 — MANE Select: NM_199461 NM_199461

CCDS: CCDS7607

Canonical transcript exons

ENST00000425699 — 1 exons

Exon	Start	End
ENSE00001595403	119029714	119033730

Expression profiles

Bgee: expression breadth ubiquitous, 199 present calls, max score 98.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.2255 / max 228.4067, expressed in 1008 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
107298	3.2255	1008

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.44	gold quality
oocyte	CL:0000023	95.82	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	92.14	gold quality
vastus lateralis	UBERON:0001379	91.86	gold quality
biceps brachii	UBERON:0001507	91.84	gold quality
quadriceps femoris	UBERON:0001377	90.74	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	89.84	gold quality
hindlimb stylopod muscle	UBERON:0004252	88.80	gold quality
skeletal muscle tissue	UBERON:0001134	88.75	gold quality
pigmented layer of retina	UBERON:0001782	86.70	gold quality
gastrocnemius	UBERON:0001388	85.44	gold quality
muscle of leg	UBERON:0001383	85.02	gold quality
deltoid	UBERON:0001476	84.97	gold quality
muscle tissue	UBERON:0002385	83.66	gold quality
tibialis anterior	UBERON:0001385	82.83	silver quality
left adrenal gland cortex	UBERON:0035825	79.76	gold quality
islet of Langerhans	UBERON:0000006	79.59	gold quality
heart left ventricle	UBERON:0002084	79.41	gold quality
cardiac ventricle	UBERON:0002082	78.94	gold quality
left adrenal gland	UBERON:0001234	78.68	gold quality
mucosa of stomach	UBERON:0001199	78.47	gold quality
adrenal cortex	UBERON:0001235	78.46	gold quality
heart right ventricle	UBERON:0002080	78.11	gold quality
apex of heart	UBERON:0002098	78.06	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.92	gold quality
placenta	UBERON:0001987	77.77	gold quality
right adrenal gland	UBERON:0001233	77.17	gold quality
adrenal gland	UBERON:0002369	76.43	gold quality
right adrenal gland cortex	UBERON:0035827	75.89	gold quality
germinal epithelium of ovary	UBERON:0001304	75.62	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-7249	no	127.12
E-MTAB-6386	no	4.95
E-ANND-3	no	2.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

148 targeting NANOS1, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3646	100.00	73.56	5283
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-551B-5P	99.96	71.28	3493

Literature-anchored findings (GeneRIF, showing 7)

• Findings describe a new function for hNanos1 as a downstream effector of E-cadherin loss contributing to tumor progression. (PMID:17047063)
• The E-cadherin-repressed hNanos1 gene induces tumor cell invasion by upregulating MT1-MMP expression. (PMID:18223680)
• Data demonstrated that SNAPIN interacts additionally with NANOS1 protein. This is the first report demonstrating that the N-terminal region of NANOS1 is necessary for protein binding. (PMID:19168546)
• NANOS1-PUMILIO2 complex, together with GEMIN3 and small noncoding RNAs, possibly regulate mRNA translation within the chromatoid body of the human germ cells. (PMID:21800163)
• A group of 195 patients manifesting non-obstructive azoospermia or oligozoospermia were tested for mutations of the NANOS1 gene. (PMID:23315541)
• Single nucleotide polymorphisms in CYP26B1, NANOS1 and STRA8 genes support involvement of meiotic program initiation in modifying azoospermia and oligozoospermia risk in a Han-Chinese population (PMID:23320086)
• High NANOS expression is associated with retinoblastoma. (PMID:25100735)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	nanos1	ENSDARG00000109337
mus_musculus	Nanos1	ENSMUSG00000072437
rattus_norvegicus	Nanos1	ENSRNOG00000082455
drosophila_melanogaster	nanos	FBGN0002962
caenorhabditis_elegans		WBGENE00003783
caenorhabditis_elegans		WBGENE00003784

Paralogs (2): NANOS3 (ENSG00000187556), NANOS2 (ENSG00000188425)

Protein

Protein identifiers

Nanos homolog 1 — Q8WY41 (reviewed: Q8WY41)

Alternative names: EC_Rep1a

All UniProt accessions (2): Q5T9H5, Q8WY41

UniProt curated annotations — full annotation on UniProt →

Function. May act as a translational repressor which regulates translation of specific mRNAs by forming a complex with PUM2 that associates with the 3’-UTR of mRNA targets. Capable of interfering with the proadhesive and anti-invasive functions of E-cadherin. Up-regulates the production of MMP14 to promote tumor cell invasion.

Subunit / interactions. Interacts with PUM2, SNAPIN and CTNNB1. Interacts (via N-terminal region) with CTNND1. Interacts with DDX20 (via N-terminal region).

Subcellular location. Cytoplasm. Perinuclear region.

Tissue specificity. Testis and ovary (at protein level). Predominantly expressed in testis. Specifically expressed during germline development. In adult tissues, it is mainly expressed in spermatogonia, the stem cells of the germline. Also expressed during meiosis in spermatocytes. Not present in late, post-meiotic stage germ cells. Expressed in fetal ovaries, while it is weakly or not expressed in mature postmeiotic oocytes, suggesting that it may be expressed in premeiotic female germ cells. Expressed at high levels only in the E-cadherin deficient cell lines. Highly expressed in lung carcinomas and mostly detected in invasive tumor cells and its expression correlates with tumor aggressiveness.

Disease relevance. Spermatogenic failure 12 (SPGF12) [MIM:615413] An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Non-obstructive azoospermia, oligozoospermia and oligo-astheno-teratozoospermia are features observed in SPGF12 patients. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The Nanos-type zinc finger is composed of two C2HC motifs, each motif binding one molecule of zinc. It is essential for the translation repression activity of the protein. The N-terminal region and C-terminal zinc-finger RNA-binding domain are both necessary for interaction with SNAPIN.

Induction. Down-regulated by E-cadherin.

Similarity. Belongs to the nanos family.

RefSeq proteins (1): NP_955631* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008705	Nanos/Xcar2	Family
IPR024161	Znf_nanos-typ	Domain
IPR038129	Nanos_sf	Homologous_superfamily

Pfam: PF05741

UniProt features (27 total): binding site 8, sequence variant 5, compositionally biased region 4, region of interest 4, short sequence motif 2, chain 1, zinc finger region 1, helix 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4CQO	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WY41-F1	61.90	0.18

Functional residue map

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

Ligand- & substrate-binding residues (8): 214; 217; 230; 241; 249; 252; 260; 265

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 211 (showing top): GOBP_HINDBRAIN_DEVELOPMENT, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_GROWTH, GOBP_OOGENESIS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, AP4_Q6, GOBP_NEUROGENESIS, CAGCTG_AP4_Q5, GOBP_NEGATIVE_REGULATION_OF_TRANSLATION, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, AGGCACT_MIR5153P, GOBP_TRANSLATION

GO Biological Process (10): regulation of cell growth (GO:0001558), tissue homeostasis (GO:0001894), post-transcriptional regulation of gene expression (GO:0010608), epithelial cell migration (GO:0010631), cell migration (GO:0016477), negative regulation of translation (GO:0017148), oogenesis (GO:0048477), mRNA destabilization (GO:0061157), cerebellar neuron development (GO:0098749), regulation of translation (GO:0006417)

GO Molecular Function (7): mRNA binding (GO:0003729), enzyme activator activity (GO:0008047), zinc ion binding (GO:0008270), translation repressor activity (GO:0030371), RNA binding (GO:0003723), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): cytoplasm (GO:0005737), perinuclear region of cytoplasm (GO:0048471)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
translation	2
negative regulation of gene expression	2
cellular anatomical structure	2
cell growth	1
regulation of growth	1
regulation of cellular component organization	1
multicellular organismal-level homeostasis	1
anatomical structure homeostasis	1
regulation of gene expression	1
ameboidal-type cell migration	1
epithelium migration	1
cell motility	1
regulation of translation	1
negative regulation of protein metabolic process	1
germ cell development	1
female gamete generation	1
regulation of mRNA stability	1
RNA destabilization	1
positive regulation of mRNA catabolic process	1
cerebellum development	1
central nervous system neuron development	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1
RNA binding	1
catalytic activity	1
enzyme regulator activity	1
molecular function activator activity	1
transition metal ion binding	1
negative regulation of translation	1
translation regulator activity	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1084 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NANOS1	PUM2	Q8TB72	978
NANOS1	DND1	Q8IYX4	755
NANOS1	CNOT1	A5YKK6	750
NANOS1	SAMD4B	Q5PRF9	722
NANOS1	TDRD7	Q8NHU6	715
NANOS1	DAZL	Q92904	590
NANOS1	DAZ1	Q9NQZ3	567
NANOS1	TEKT1	Q969V4	501
NANOS1	EIF4ENIF1	Q9NRA8	481
NANOS1	PIWIL1	Q96J94	475
NANOS1	DDX25	Q9UHL0	470
NANOS1	TEX11	Q8IYF3	452
NANOS1	CNOT4	O95628	452
NANOS1	PIWIL4	Q7Z3Z4	435
NANOS1	SOHLH1	Q5JUK2	428

IntAct

5 interactions, top by confidence:

A	B	Type	Score
CTNND1	NANOS1	psi-mi:“MI:0915”(physical association)	0.520
NANOS1	CTNND1	psi-mi:“MI:0915”(physical association)	0.520
NANOS1	CTNND1	psi-mi:“MI:0915”(physical association)	0.400
NANOS1	CNOT1	psi-mi:“MI:0914”(association)	0.350

BioGRID (23): CNOT1 (Affinity Capture-Western), CNOT3 (Affinity Capture-Western), CNOT1 (Reconstituted Complex), CNOT1 (Co-crystal Structure), NANOS1 (Affinity Capture-RNA), NANOS1 (Two-hybrid), C17orf70 (Affinity Capture-MS), PAK1 (Affinity Capture-MS), CNOT10 (Affinity Capture-MS), CNOT7 (Affinity Capture-MS), TNKS1BP1 (Affinity Capture-MS), CNOT6 (Affinity Capture-MS), CNOT11 (Affinity Capture-MS), KLHDC8B (Affinity Capture-MS), CNOT8 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GUA5, A0A286YF58, A0A494C0N9, A0A494C0Y3, A0A7I2V3R4, A0JNN8, A2ARS0, A2VDX9, A5PJP1, A6NGB7, A8MVW0, C9JTQ0, O14511, O14559, O35392, O35569, O43541, O60548, O70220, P0DPE3, Q08102, Q14V87, Q19A40, Q29RK8, Q2HJ59, Q3TYP4, Q5BLP8, Q5T442, Q63244, Q6F5E0, Q6QNY0, Q6VUP9, Q80WY3, Q80XF7, Q8BQU6, Q8K025, Q8K071, Q8TD94, Q8WY41, Q8WZ71

Diamond homologs: E7FDB3, P25724, P60321, P60322, P60323, P60324, Q07937, Q80WY3, Q8WY41, Q90WW1, Q90ZZ5, Q90ZZ6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
“CCR4-NOT complex”	“down-regulates quantity by repression”	NANOS1	“post transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	215
Likely benign	53
Benign	26

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
65391	NM_199461.4(NANOS1):c.502GCC[5] (p.Ala173del)	Pathogenic

SpliceAI

4301 predictions. Top by Δscore:

Variant	Effect	Δscore
12:117215275:CAAAA:C	donor_gain	1.0000
12:117218044:A:AC	donor_gain	1.0000
12:117218044:ACT:A	donor_gain	1.0000
12:117218045:C:CA	donor_gain	1.0000
12:117218045:CT:C	donor_gain	1.0000
12:117218045:CTC:C	donor_gain	1.0000
12:117218045:CTCA:C	donor_gain	1.0000
12:117218045:CTCAT:C	donor_gain	1.0000
12:117218048:A:AC	donor_gain	1.0000
12:117218048:AT:A	donor_gain	1.0000
12:117218049:T:C	donor_gain	1.0000
12:117218163:TC:T	acceptor_gain	1.0000
12:117218163:TCCTA:T	acceptor_loss	1.0000
12:117218164:CC:C	acceptor_gain	1.0000
12:117218164:CCT:C	acceptor_loss	1.0000
12:117218165:C:CC	acceptor_gain	1.0000
12:117218165:C:CG	acceptor_loss	1.0000
12:117218166:T:G	acceptor_loss	1.0000
12:117220070:CTCA:C	donor_loss	1.0000
12:117220071:TCACC:T	donor_loss	1.0000
12:117220072:CA:C	donor_loss	1.0000
12:117220073:A:AC	donor_gain	1.0000
12:117220073:AC:A	donor_gain	1.0000
12:117220073:ACC:A	donor_gain	1.0000
12:117220073:ACCCT:A	donor_gain	1.0000
12:117220074:C:CA	donor_gain	1.0000
12:117220074:CC:C	donor_gain	1.0000
12:117220074:CCC:C	donor_gain	1.0000
12:117220074:CCCT:C	donor_gain	1.0000
12:117220074:CCCTC:C	donor_gain	1.0000

AlphaMissense

1842 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:119030447:T:C	F216L	1.000
10:119030448:T:C	F216S	1.000
10:119030448:T:G	F216C	1.000
10:119030449:C:A	F216L	1.000
10:119030449:C:G	F216L	1.000
10:119030450:T:C	C217R	1.000
10:119030496:T:A	L232H	1.000
10:119030500:G:C	K233N	1.000
10:119030500:G:T	K233N	1.000
10:119030522:T:C	C241R	1.000
10:119030546:T:C	C249R	1.000
10:119030555:T:A	C252S	1.000
10:119030555:T:C	C252R	1.000
10:119030556:G:A	C252Y	1.000
10:119030556:G:C	C252S	1.000
10:119030579:C:G	H260D	1.000
10:119030581:C:A	H260Q	1.000
10:119030581:C:G	H260Q	1.000
10:119030592:A:G	Y264C	1.000
10:119030441:T:C	C214R	0.999
10:119030442:G:A	C214Y	0.999
10:119030443:C:G	C214W	0.999
10:119030447:T:A	F216I	0.999
10:119030447:T:G	F216V	0.999
10:119030450:T:A	C217S	0.999
10:119030451:G:A	C217Y	0.999
10:119030451:G:C	C217S	0.999
10:119030451:G:T	C217F	0.999
10:119030452:C:G	C217W	0.999
10:119030489:C:G	H230D	0.999

dbSNP variants (sampled 300 via entrez): RS1000030871 (10:119029386 A>C), RS1000314389 (10:119032133 G>A,T), RS1000704746 (10:119033157 C>G), RS1000876409 (10:119033574 TAA>T), RS1000985885 (10:119032099 A>G), RS1001092083 (10:119029073 T>C,G), RS1001255827 (10:119028703 C>A,T), RS1002199561 (10:119032972 CG>C), RS1002375540 (10:119032467 C>T), RS1002420655 (10:119033275 T>C), RS1002473353 (10:119027914 G>A), RS1002766980 (10:119028232 A>C), RS1002995009 (10:119028425 C>A), RS1003085302 (10:119030721 C>G,T), RS1003201539 (10:119031647 A>G)

Disease associations

OMIM: gene MIM:608226 | disease phenotypes: MIM:179010, MIM:615413

GenCC curated gene-disease

Disease	Classification	Inheritance
male infertility with azoospermia or oligozoospermia due to single gene mutation	Supportive	Autosomal dominant
idiopathic achalasia	Supportive	Autosomal recessive
spermatogenic failure 12	Limited	Unknown

Mondo (4): pyloric stenosis, infantile hypertrophic, 1 (MONDO:0008355), spermatogenic failure 12 (MONDO:0014172), (MONDO:0018393), idiopathic achalasia (MONDO:0019635)

Orphanet (0):

HPO phenotypes

20 total (20 of 20 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000027	Azoospermia
HP:0000118	Phenotypic abnormality
HP:0000789	Infertility
HP:0000837	Increased circulating gonadotropin level
HP:0001824	Weight loss
HP:0002015	Dysphagia
HP:0002020	Gastroesophageal reflux
HP:0002100	Recurrent aspiration pneumonia
HP:0004395	Malnutrition
HP:0008669	Abnormal spermatogenesis
HP:0008734	Decreased testicular size
HP:0011961	Non-obstructive azoospermia
HP:0011962	Obstructive azoospermia
HP:0012387	Bronchitis
HP:0012735	Cough
HP:0012863	Abnormal male germ cell morphology
HP:0030828	Wheezing
HP:0031085	Decreased circulating prealbumin concentration
HP:0100749	Chest pain

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST003017_11	Colorectal cancer	3.000000e-08
GCST003017_3	Colorectal cancer	3.000000e-08
GCST004860_11	Alcoholic chronic pancreatitis	6.000000e-06
GCST004860_130	Alcoholic chronic pancreatitis	7.000000e-06
GCST004860_135	Alcoholic chronic pancreatitis	5.000000e-06
GCST004860_156	Alcoholic chronic pancreatitis	2.000000e-07
GCST004860_41	Alcoholic chronic pancreatitis	7.000000e-06
GCST004946_147	Schizophrenia	2.000000e-08
GCST005232_84	Neuroticism	8.000000e-11
GCST005925_1	Baseline cortisol levels in response to low dose short synacthen test in corticosteroid treated asthma	3.000000e-07
GCST007201_178	Schizophrenia	1.000000e-07
GCST007201_342	Schizophrenia	1.000000e-06
GCST007709_308	General factor of neuroticism	2.000000e-08
GCST007856_80	Colorectal cancer or advanced adenoma	2.000000e-06
GCST009526_4	Disability (impaired activities of daily living)	3.000000e-06
GCST012354_43	Anxiety	2.000000e-14
GCST012355_10	Depression	4.000000e-11
GCST90011900_46	Serum alkaline phosphatase levels	3.000000e-08
GCST90013442_16	Keratoconus	4.000000e-12

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007660	neuroticism measurement
EFO:0005843	cortisol measurement
EFO:0009175	response to synacthen
EFO:0008451	activities of daily living score measurement
EFO:0009863	anxiety measurement
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation, affects cotreatment, decreases expression, affects expression	7
trichostatin A	affects cotreatment, decreases expression, increases expression	3
Benzo(a)pyrene	increases methylation, increases expression	3
Tretinoin	decreases expression, increases expression	3
Cyclosporine	decreases expression, increases expression	3
(+)-JQ1 compound	decreases expression, increases expression	2
Panobinostat	affects cotreatment, decreases expression	2
Dexamethasone	increases expression, affects cotreatment	2
Tetrachlorodibenzodioxin	affects expression, decreases expression	2
Aflatoxin B1	affects expression, increases expression	2
Particulate Matter	increases abundance, increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
propionaldehyde	increases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	affects cotreatment, increases expression	1
deoxynivalenol	decreases expression	1
hydroxyhydroquinone	decreases expression, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
ochratoxin A	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	decreases expression, affects cotreatment	1
resorcinol	increases expression	1
4-aminobenzhydrazide	decreases expression, decreases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
nutlin 3	affects cotreatment, increases expression	1
belinostat	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	1
licochalcone B	increases expression	1
jinfukang	affects cotreatment, increases expression, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01560559	PHASE3	COMPLETED	Peroral Endoscopic Myotomy for Primary Esophageal Achalasia
NCT03784365	PHASE3	UNKNOWN	Single-Versus Multiple-dose Antimicrobial Prophylaxis for Peroral Endoscopic Myotomy in Achalasia
NCT06189859	PHASE3	RECRUITING	Electrosurgical Modes for Endoscopic Submucosal Dissection in Peroral Endoscopic Esophageal Myotomy
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT02025790	Not specified	UNKNOWN	POEM Versus Pneumatic Dilatation in Achalasia Cardia
NCT03186248	Not specified	COMPLETED	Randomized Clinical Trial Comparing Short Versus Long Oesophageal Myotomy in POEM for Achalasia Cardia.
NCT03438838	Not specified	UNKNOWN	Randomised Trial Between LHM Alone Vs LHM With Anterior Fundoplication In Achalasia Cardia
NCT04951739	Not specified	COMPLETED	To Investigate the Incidence of Reflux in Patients After Per-oral Endoscopic Myotomy in Achalasia Cardia Patients
NCT05729971	Not specified	COMPLETED	Nasogastric Tube After Laparoscopic Heller-Dor Myotomy
NCT06290882	Not specified	ACTIVE_NOT_RECRUITING	Endoscopic Versus Robotic Myotomy for Treatment of Achalasia
NCT07022886	Not specified	ACTIVE_NOT_RECRUITING	INCIDENCE, PREVALENCE AND OVERALL RISK OF ESOPHAGEAL CANCER IN ACHALASIA: A PROPENSITY-MATCHED POPULATION-BASED STUDY FROM A LARGE MULTICENTER DATABASE
NCT07167355	Not specified	NOT_YET_RECRUITING	Comparison of Balloon Dilatation and Per Oral Endoscopic Myotomy in Children With Achalasia Cardia
NCT07177222	Not specified	COMPLETED	Compare the Quality of Life of Patients With Achalasia Cardia (AC) After Laparoscopic and Open Esophagocardiomyotomy.
NCT07399652	Not specified	RECRUITING	Artificial Intelligence-Guided Detection of Blood Vessels to Enhance Safety in Third-Space Endoscopic Procedures
NCT07451301	Not specified	COMPLETED	Serum Anti-enteric Neuronal Antibodies in Patients With Achalasia and Their Association With Clinical Profiles