CPTP

Summary

CPTP (ceramide-1-phosphate transfer protein, HGNC:28116) is a protein-coding gene on chromosome 1p36.33, encoding Ceramide-1-phosphate transfer protein (Q5TA50). Mediates the intracellular transfer of ceramide-1-phosphate (C1P) between organelle membranes and the cell membrane.

Enables ceramide 1-phosphate binding activity and ceramide 1-phosphate transfer activity. Involved in ceramide 1-phosphate transport; negative regulation of NLRP3 inflammasome complex assembly; and negative regulation of metabolic process. Located in cytosol.

Source: NCBI Gene 80772 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_001029885

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28116
Approved symbol	CPTP
Name	ceramide-1-phosphate transfer protein
Location	1p36.33
Locus type	gene with protein product
Status	Approved
Aliases	MGC10334
Ensembl gene	ENSG00000224051
Ensembl biotype	protein_coding
OMIM	615467
Entrez	80772

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 9 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000343938, ENST00000464957, ENST00000488011, ENST00000900278, ENST00000900279, ENST00000900280, ENST00000900281, ENST00000900282, ENST00000900283, ENST00000956293

RefSeq mRNA: 1 — MANE Select: NM_001029885 NM_001029885

CCDS: CCDS30555

Canonical transcript exons

ENST00000343938 — 3 exons

Exon	Start	End
ENSE00001714593	1327241	1328896
ENSE00001831550	1324802	1325102
ENSE00002725815	1326836	1327032

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 97.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.3689 / max 189.8881, expressed in 1810 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84	28.2937	1810
87	0.0752	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	97.48	gold quality
lower esophagus mucosa	UBERON:0035834	95.85	gold quality
heart left ventricle	UBERON:0002084	94.77	gold quality
cardiac ventricle	UBERON:0002082	94.64	gold quality
left testis	UBERON:0004533	94.37	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.16	gold quality
mucosa of transverse colon	UBERON:0004991	94.12	gold quality
right testis	UBERON:0004534	93.97	gold quality
parotid gland	UBERON:0001831	92.73	gold quality
right lobe of liver	UBERON:0001114	92.55	gold quality
testis	UBERON:0000473	92.28	gold quality
triceps brachii	UBERON:0001509	91.92	gold quality
diaphragm	UBERON:0001103	91.25	gold quality
heart right ventricle	UBERON:0002080	90.99	gold quality
esophagus mucosa	UBERON:0002469	90.64	gold quality
gluteal muscle	UBERON:0002000	90.45	gold quality
tendon of biceps brachii	UBERON:0008188	90.25	gold quality
heart	UBERON:0000948	89.94	gold quality
vastus lateralis	UBERON:0001379	89.70	gold quality
buccal mucosa cell	CL:0002336	89.62	gold quality
cervix squamous epithelium	UBERON:0006922	89.57	gold quality
metanephros cortex	UBERON:0010533	89.52	gold quality
body of stomach	UBERON:0001161	89.14	gold quality
saliva-secreting gland	UBERON:0001044	89.01	gold quality
transverse colon	UBERON:0001157	88.94	gold quality
quadriceps femoris	UBERON:0001377	88.86	gold quality
corpus epididymis	UBERON:0004359	88.84	gold quality
left ventricle myocardium	UBERON:0006566	88.63	gold quality
skin of leg	UBERON:0001511	88.62	gold quality
gastrocnemius	UBERON:0001388	88.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

34 targeting CPTP, 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-1184	99.99	68.19	1458
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-499A-3P	99.18	69.20	1392
HSA-MIR-499B-3P	99.18	69.27	1391
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-6868-5P	99.06	65.69	1284
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-615-5P	98.10	63.76	591
HSA-MIR-6842-3P	98.07	66.33	1325
HSA-MIR-4469	97.93	65.81	1319
HSA-MIR-6787-3P	97.75	66.17	1233
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-4675	97.69	64.82	774
HSA-MIR-4741	97.69	64.14	883
HSA-MIR-4430	97.47	65.61	1813

Literature-anchored findings (GeneRIF, showing 6)

• a ubiquitously expressed lipid transfer protein, human GLTPD1, named here CPTP, is shown to specifically transfer C1P between membranes. (PMID:23863933)
• These findings identify human CPTP as an endogenous regulator of early-stage autophagosome assembly and inflammasome-driven, pro-inflammatory cytokine generation and release. (PMID:29164996)
• Ceramide-1-phosphate transfer protein (CPTP) regulation by phosphoinositides. (PMID:33781749)
• Ceramide-1-phosphate and its transfer proteins in eukaryotes. (PMID:34499882)
• Ceramide-1-phosphate transfer protein promotes sphingolipid reorientation needed for binding during membrane interaction. (PMID:34808193)
• Human CPTP promotes growth and metastasis via sphingolipid metabolite ceramide and PI4KA/AKT signaling in pancreatic cancer cells. (PMID:35982909)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	cptp	ENSDARG00000052537
danio_rerio	gltpd2a	ENSDARG00000054218
danio_rerio	gltpd2b	ENSDARG00000067889
mus_musculus	Cptp	ENSMUSG00000029073
rattus_norvegicus	Cptp	ENSRNOG00000022455
rattus_norvegicus		ENSRNOG00000064148
drosophila_melanogaster	CG6299	FBGN0030641
caenorhabditis_elegans	tag-296	WBGENE00018632
caenorhabditis_elegans		WBGENE00022347
caenorhabditis_elegans	F49D11.10	WBGENE00045433

Paralogs (5): PLEKHA8 (ENSG00000106086), CERT1 (ENSG00000113163), PLEKHA3 (ENSG00000116095), GLTP (ENSG00000139433), GLTPD2 (ENSG00000182327)

Protein

Protein identifiers

Ceramide-1-phosphate transfer protein — Q5TA50 (reviewed: Q5TA50)

Alternative names: Glycolipid transfer protein domain-containing protein 1

All UniProt accessions (3): Q5TA50, J3KST3, S4S694

UniProt curated annotations — full annotation on UniProt →

Function. Mediates the intracellular transfer of ceramide-1-phosphate (C1P) between organelle membranes and the cell membrane. Required for normal structure of the Golgi stacks. Can bind phosphoceramides with a variety of aliphatic chains, but has a preference for lipids with saturated C16:0 or monounsaturated C18:1 aliphatic chains, and is inefficient with phosphoceramides containing lignoceryl (C24:0). Plays a role in the regulation of the cellular levels of ceramide-1-phosphate, and thereby contributes to the regulation of phospholipase PLA2G4A activity and the release of arachidonic acid. Has no activity with galactosylceramide, lactosylceramide, sphingomyelin, phosphatidylcholine, phosphatidic acid and ceramide. C1P transfer is stimulated by phosphatidylserine in C1P source vesicles. Regulates autophagy, inflammasome mediated IL1B and IL18 processing, and pyroptosis, but not apoptosis.

Subcellular location. Cytoplasm. Cytosol. Golgi apparatus. trans-Golgi network membrane. Cell membrane. Endosome membrane. Nucleus outer membrane.

Tissue specificity. Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes.

Similarity. Belongs to the GLTP family.

RefSeq proteins (1): NP_001025056* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR014830	Glycolipid_transfer_prot_dom	Domain
IPR036497	GLTP_sf	Homologous_superfamily

Pfam: PF08718

Catalyzed reactions (Rhea), 2 shown:

• N-(hexadecanoyl)-sphing-4-enine-1-phosphate(in) = N-(hexadecanoyl)-sphing-4-enine-1-phosphate(out) (RHEA:45680)
• N-(9Z-octadecenoyl)-sphing-4-enine-1-phosphate(in) = N-(9Z-octadecenoyl)-sphing-4-enine-1-phosphate(out) (RHEA:45688)

UniProt features (35 total): mutagenesis site 14, helix 13, binding site 5, strand 2, chain 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
4K84	X-RAY DIFFRACTION	1.9
4KBS	X-RAY DIFFRACTION	1.9
4K85	X-RAY DIFFRACTION	1.9
4K80	X-RAY DIFFRACTION	2.05
4K8N	X-RAY DIFFRACTION	3.1
4KF6	X-RAY DIFFRACTION	3.19

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5TA50-F1	93.93	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.

Ligand- & substrate-binding residues (5): 56; 60; 106; 110; 150

Mutagenesis-validated functional residues (14):

Position	Phenotype
56	slightly decreases phosphoceramide transfer.
60	nearly abolishes phosphoceramide transfer. induces autophagy in a dominant negative manner.
97	no effect.
106	nearly abolishes phosphoceramide transfer. induces autophagy in a dominant negative manner.
110	reduces phosphoceramide transfer.
113	strongly reduces phosphoceramide transfer.
117	slightly reduces phosphoceramide transfer.
118	abolishes phosphoceramide transfer.
149	reduces phosphoceramide transfer.
158	abolishes phosphoceramide transfer.
42	increases phosphoceramide transfer.
43	nearly abolishes phosphoceramide transfer.
50	slightly reduces phosphoceramide transfer.
53	slightly decreases phosphoceramide transfer.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9845576	Glycosphingolipid transport

MSigDB gene sets: 149 (showing top): GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_NEGATIVE_REGULATION_OF_INTERLEUKIN_1_PRODUCTION, GOBP_INFLAMMATORY_RESPONSE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_INTERLEUKIN_1_PRODUCTION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_AUTOPHAGY, GOBP_REGULATION_OF_IMMUNE_RESPONSE

GO Biological Process (7): negative regulation of autophagy (GO:0010507), negative regulation of interleukin-1 beta production (GO:0032691), ceramide transport (GO:0035627), intermembrane lipid transfer (GO:0120009), negative regulation of NLRP3 inflammasome complex assembly (GO:1900226), ceramide 1-phosphate transport (GO:1902389), lipid transport (GO:0006869)

GO Molecular Function (5): phospholipid binding (GO:0005543), ceramide 1-phosphate binding (GO:1902387), ceramide 1-phosphate transfer activity (GO:1902388), lipid binding (GO:0008289), lipid transfer activity (GO:0120013)

GO Cellular Component (12): nuclear outer membrane (GO:0005640), Golgi apparatus (GO:0005794), centriole (GO:0005814), cytosol (GO:0005829), plasma membrane (GO:0005886), endosome membrane (GO:0010008), perinuclear theca (GO:0033011), sperm midpiece (GO:0097225), nucleus (GO:0005634), cytoplasm (GO:0005737), endosome (GO:0005768), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
lipid transport	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
autophagy	1
negative regulation of catabolic process	1
regulation of autophagy	1
interleukin-1 beta production	1
regulation of interleukin-1 beta production	1
negative regulation of interleukin-1 production	1
nitrogen compound transport	1
membrane organization	1
negative regulation of protein-containing complex assembly	1
NLRP3 inflammasome complex assembly	1
negative regulation of inflammasome-mediated signaling pathway	1
regulation of NLRP3 inflammasome complex assembly	1
phospholipid transport	1
ceramide transport	1
transport	1
lipid localization	1
lipid binding	1
phospholipid binding	1
anion binding	1
ceramide binding	1
phospholipid transfer activity	1
ceramide transfer activity	1
ceramide 1-phosphate transport	1
binding	1
transporter activity	1
lipid carrier activity	1
intermembrane lipid transfer	1
nuclear membrane	1
organelle outer membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
microtubule organizing center	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
endosome	1

Protein interactions and networks

STRING

494 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CPTP	GLTP	Q9NZD2	709
CPTP	CERK	Q8TCT0	571
CPTP	CERT1	Q9Y5P4	510
CPTP	NOL9	Q5SY16	454
CPTP	ACER1	Q8TDN7	395
CPTP	TAS1R3	Q7RTX0	375
CPTP	ZBTB48	P10074	364
CPTP	ASAH2	Q9NR71	357
CPTP	SPTLC1	O15269	344
CPTP	PAX7	P23759	344
CPTP	PAX3	P23760	328
CPTP	TAS1R1	Q7RTX1	327
CPTP	DVL1	O14640	325
CPTP	ALDH4A1	P30038	322
CPTP	TAS1R2	Q8TE23	322

IntAct

9 interactions, top by confidence:

A	B	Type	Score
CPTP	LRRK2	psi-mi:“MI:0407”(direct interaction)	0.440
CPTP	CD7	psi-mi:“MI:0915”(physical association)	0.370
CPTP	ECM1	psi-mi:“MI:0915”(physical association)	0.370
CPTP	SMAD3	psi-mi:“MI:0915”(physical association)	0.370
ELOC	CPTP	psi-mi:“MI:0915”(physical association)	0.370
ZNF451	CPTP	psi-mi:“MI:0915”(physical association)	0.370
CPTP	INPP5K	psi-mi:“MI:0915”(physical association)	0.370
PHF13	CPTP	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (9): CPTP (Affinity Capture-RNA), CPTP (Protein-peptide), CPTP (Two-hybrid), ZNF451 (Two-hybrid), CPTP (Two-hybrid), SMAD3 (Two-hybrid), TCEB1 (Two-hybrid), INPP5K (Two-hybrid), PHF13 (Two-hybrid)

ESM2 similar proteins: A0A223HDI2, A2BG43, B0BLT4, B0BNM9, B0YN54, O22797, O64587, O94360, P40124, P68265, P68266, Q01518, Q08163, Q0VCQ0, Q2WBN3, Q3SYV4, Q3T1J9, Q4R4I6, Q54XJ0, Q5F495, Q5HZ92, Q5RAE0, Q5RDB1, Q5TA50, Q5XIS2, Q63ZQ3, Q66JG2, Q6DBQ8, Q6NLQ3, Q6NU44, Q6PEB6, Q6Z6S1, Q70IA6, Q7L9L4, Q8BPB0, Q8BS40, Q8GYX0, Q8VI63, Q921Y0, Q949G5

Diamond homologs: A6NH11, Q0VCQ0, Q5HZ92, Q5TA50, Q5XIS2, Q66JG2, Q6DBQ8, Q8BS40, Q8K0R6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

558 predictions. Top by Δscore:

Variant	Effect	Δscore
1:1326830:A:AG	acceptor_gain	0.9900
1:1326835:GAAA:G	acceptor_gain	0.9900
1:1324883:G:GT	donor_gain	0.9800
1:1325098:CCCAG:C	donor_loss	0.9800
1:1325099:CCAG:C	donor_loss	0.9800
1:1325100:CAGGT:C	donor_loss	0.9800
1:1325101:AGG:A	donor_loss	0.9800
1:1325102:GGT:G	donor_loss	0.9800
1:1325103:G:A	donor_loss	0.9800
1:1325104:T:G	donor_loss	0.9800
1:1326829:C:G	acceptor_gain	0.9800
1:1326831:C:G	acceptor_gain	0.9800
1:1326834:A:AG	acceptor_gain	0.9800
1:1326835:G:GG	acceptor_gain	0.9800
1:1326904:T:G	acceptor_gain	0.9800
1:1327236:CACA:C	acceptor_loss	0.9800
1:1327239:A:C	acceptor_loss	0.9800
1:1327240:G:GA	acceptor_loss	0.9800
1:1326831:CACAG:C	acceptor_loss	0.9700
1:1326832:ACAG:A	acceptor_loss	0.9700
1:1326833:CA:C	acceptor_loss	0.9700
1:1326834:A:T	acceptor_loss	0.9700
1:1326906:A:AG	acceptor_gain	0.9700
1:1326907:A:G	acceptor_gain	0.9700
1:1326983:G:GT	donor_gain	0.9700
1:1327030:CAG:C	donor_loss	0.9700
1:1327031:AGGTG:A	donor_loss	0.9700
1:1327033:GT:G	donor_loss	0.9700
1:1324879:TCCGG:T	donor_gain	0.9600
1:1326828:A:AG	acceptor_gain	0.9600

AlphaMissense

1381 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:1327013:A:C	S35R	0.990
1:1327015:C:A	S35R	0.990
1:1327015:C:G	S35R	0.990
1:1327016:T:A	W36R	0.985
1:1327016:T:C	W36R	0.985
1:1327456:G:C	R113P	0.985
1:1327600:C:A	A161D	0.985
1:1327566:C:G	H150D	0.981
1:1327455:C:A	R113S	0.977
1:1327467:T:A	W117R	0.977
1:1327467:T:C	W117R	0.977
1:1327375:A:T	E86V	0.972
1:1327568:C:A	H150Q	0.972
1:1327568:C:G	H150Q	0.972
1:1327471:T:C	L118P	0.971
1:1327266:T:C	F50L	0.969
1:1327268:C:A	F50L	0.969
1:1327268:C:G	F50L	0.969
1:1327243:T:C	F42S	0.968
1:1327566:C:A	H150N	0.968
1:1327298:G:C	K60N	0.965
1:1327298:G:T	K60N	0.965
1:1327276:T:A	I53N	0.962
1:1327429:G:A	G104D	0.962
1:1327431:T:C	C105R	0.962
1:1327462:T:C	L115P	0.962
1:1327542:T:G	Y142D	0.962
1:1327530:T:C	C138R	0.961
1:1327588:C:A	A157D	0.961
1:1327630:T:C	F171S	0.960

dbSNP variants (sampled 300 via entrez): RS1000003240 (1:1324638 G>A,T), RS1000073352 (1:1325526 C>A,T), RS1000113484 (1:1328688 G>A), RS1000143029 (1:1328848 C>T), RS1000438273 (1:1324775 G>A), RS1001160690 (1:1326806 C>G,T), RS1001331534 (1:1325810 C>T), RS1001651729 (1:1324275 G>C), RS1001720675 (1:1323712 G>A), RS1001777686 (1:1327968 G>A,C,T), RS1001993670 (1:1322804 A>G), RS1002711481 (1:1325058 ACCGGTGCCCATCCAGT>A), RS1003003262 (1:1324823 G>C), RS1003250227 (1:1326317 G>A,C), RS1003794406 (1:1325988 G>A,T)

Disease associations

OMIM: gene MIM:615467 | disease phenotypes: MIM:615373, MIM:182212

GenCC curated gene-disease

Mondo (2): left ventricular noncompaction 8 (MONDO:0014152), Shprintzen-Goldberg syndrome (MONDO:0008426)

Orphanet (3): Familial isolated dilated cardiomyopathy (Orphanet:154), Left ventricular noncompaction (Orphanet:54260), Shprintzen-Goldberg syndrome (Orphanet:2462)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004131_103	Inflammatory bowel disease	2.000000e-07
GCST004133_40	Ulcerative colitis	3.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	2
bisphenol A	decreases expression, affects cotreatment	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
ferrous chloride	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
eprenetapopt	affects expression, affects reaction	1
MT19c compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Manganese	increases expression, affects cotreatment, increases abundance	1
Plant Extracts	decreases expression, affects cotreatment	1
Rotenone	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01322165	Not specified	COMPLETED	National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
NCT03440697	Not specified	ACTIVE_NOT_RECRUITING	Pathogenetic Basis of Aortopathy and Aortic Valve Disease