ARTN

Summary

ARTN (artemin, HGNC:727) is a protein-coding gene on chromosome 1p34.1, encoding Artemin (Q5T4W7). Growth factor that supports the survival of sensory and sympathetic peripheral neurons in culture and also supports the survival of dopaminergic neurons of the ventral mid-brain.

This gene encodes a secreted ligand of the glial cell line-derived neurotrophic factor (GDNF) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein signals through the RET receptor and GFR alpha 3 coreceptor, and supports the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. This protein has also been shown to promote tumor growth, metastasis, and drug resistance in mammary carcinoma.

Source: NCBI Gene 9048 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 46 total — 3 pathogenic
• MANE Select transcript: NM_057091

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:727
Approved symbol	ARTN
Name	artemin
Location	1p34.1
Locus type	gene with protein product
Status	Approved
Aliases	NBN, EVN, ENOVIN
Ensembl gene	ENSG00000117407
Ensembl biotype	protein_coding
OMIM	603886
Entrez	9048

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 16 protein_coding

ENST00000372354, ENST00000372359, ENST00000414809, ENST00000438616, ENST00000471394, ENST00000472435, ENST00000474592, ENST00000477048, ENST00000479128, ENST00000491846, ENST00000498139, ENST00000925268, ENST00000925269, ENST00000925270, ENST00000963410, ENST00000963411

RefSeq mRNA: 3 — MANE Select: NM_057091 NM_001136215, NM_057090, NM_057091

CCDS: CCDS501, CCDS502

Canonical transcript exons

ENST00000372359 — 5 exons

Exon	Start	End
ENSE00001358432	43934112	43934260
ENSE00001842401	43936302	43937240
ENSE00002181172	43935590	43935716
ENSE00003791220	43936093	43936231
ENSE00003842615	43933801	43933885

Expression profiles

Bgee: expression breadth ubiquitous, 169 present calls, max score 96.29.

FANTOM5 (CAGE): breadth broad, TPM avg 2.2747 / max 72.2354, expressed in 451 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2566	0.8927	234
2563	0.7528	213
2565	0.3170	104
2561	0.1443	75
2562	0.0940	39
2564	0.0738	42

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
olfactory bulb	UBERON:0002264	96.29	gold quality
type B pancreatic cell	CL:0000169	96.13	silver quality
diaphragm	UBERON:0001103	89.74	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.58	gold quality
thymus	UBERON:0002370	82.87	gold quality
cervix epithelium	UBERON:0004801	82.11	gold quality
cervix squamous epithelium	UBERON:0006922	81.36	gold quality
triceps brachii	UBERON:0001509	80.60	silver quality
mucosa of transverse colon	UBERON:0004991	80.55	gold quality
gluteal muscle	UBERON:0002000	80.00	gold quality
tongue squamous epithelium	UBERON:0006919	79.42	gold quality
mucosa of urinary bladder	UBERON:0001259	79.30	gold quality
lower esophagus mucosa	UBERON:0035834	79.15	gold quality
CA1 field of hippocampus	UBERON:0003881	78.57	gold quality
left ventricle myocardium	UBERON:0006566	77.58	gold quality
trachea	UBERON:0003126	77.06	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	76.96	gold quality
cardiac muscle of right atrium	UBERON:0003379	76.75	gold quality
lateral globus pallidus	UBERON:0002476	76.66	silver quality
mucosa of stomach	UBERON:0001199	76.58	gold quality
pituitary gland	UBERON:0000007	76.47	gold quality
hair follicle	UBERON:0002073	75.91	gold quality
superficial temporal artery	UBERON:0001614	75.86	gold quality
orbitofrontal cortex	UBERON:0004167	75.44	gold quality
pericardium	UBERON:0002407	75.35	gold quality
prostate gland	UBERON:0002367	75.11	gold quality
nasal cavity epithelium	UBERON:0005384	74.55	gold quality
upper arm skin	UBERON:0004263	74.52	gold quality
decidua	UBERON:0002450	74.43	gold quality
adenohypophysis	UBERON:0002196	74.12	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.77

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI1

miRNA regulators (miRDB)

8 targeting ARTN, 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-5692A	100.00	74.40	6850
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-4255	99.72	67.70	1541
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-6787-3P	97.75	66.17	1233
HSA-MIR-8086	97.21	64.13	331
HSA-MIR-542-5P	87.47	60.42	76

Literature-anchored findings (GeneRIF, showing 34)

• The results obtained suggest the involvement of NTN, PSP, and ART in processes subserving both the organization of this cortical region during development and the functional activity and maintenance of the mature human hippocampal neurons. (PMID:15829225)
• This study suggests that ART binds heparan sulfate proteoglycans (HSPG) and identifies residues that may be involved in HSPG binding. (PMID:16734417)
• 1.92 A crystal structure of the complex formed between ARTN and its receptor GFRalpha3 was reported. (PMID:16765900)
• Data show that reduced expression levels of ARTN mRNAs are found in patients with major depressive disorder in a current depressive state, but not in a remissive state. (PMID:18313696)
• No differences were found in the allelic frequencies of the variants or in the haplotype distribution between Hirschsprung’s disease patients & controls, nor to any demographic/clinical parameters within the group of patients. (PMID:18970938)
• Artemin and GFRalpha3 expressions may play an important role in perineural invasion of pancreatic carcinoma. (PMID:19304517)
• Forced expression of artemin in mammary carcinoma cells results in increased anchorage-independent growth, increased colony formation in soft agar and in Matrigel, and promotes a scattered cell phenotype with enhanced migration and invasion. (PMID:19363524)
• expression in endometrial carcinoma significantly associated with higher tumor grade and invasiveness (PMID:20118197)
• Forced expression of ARTN in ER-positive human mammary carcinoma cells increased ER transcriptional activity, promoted estrogen-independent growth and produced resistance to tamoxifen. (PMID:20305694)
• Artemin is a key player in the generation of pancreatic neuropathy in pancreatic neoplasms. (PMID:20395845)
• ARTN increased BCL2 expression by transcriptional upregulation, and inhibition of BCL2 abrogated the oncogenic properties of ARTN in non-small cell lung carcinoma cells. (PMID:20530713)
• These results reveal that ARTN, a known tumor metastasis-related gene, is a direct target of miR-223. (PMID:21453483)
• Presenting an efficient method for the recombinant bacterial production of large quantities of highly pure, biologically active ARTN for in vitro and in vivo studies. (PMID:21907286)
• Studies indicate that artemin was highly expressed in squamous cell carcinoma lung cancer. (PMID:22008109)
• ARTN and TWIST1 synergize to produce a worse outcome in ER-MC and combined inhibition of ARTN and phosphatidylinositol 3-kinase/protein kinase B (PI3K/AKT) may therefore provide a novel therapeutic strategy in this subtype of mammary carcinoma. (PMID:22060274)
• artemin lowers the threshold of temperature-dependent itch sensation. (PMID:22770266)
• High artemin promotes motility and invasiveness of pancreatic cancer. (PMID:22901124)
• ARTN promotion of the cancer stem cell-like cell phenotype was mediated by TWIST1 regulation of BCL-2 expression. (PMID:23095743)
• ARTEMIN promotes de novo angiogenesis in ER negative mammary carcinoma through activation of TWIST1-VEGF-A signaling. (PMID:23185544)
• The expression of GFRalpha1 and/or GFRalpha3, especially when combined with ARTN expression, may be useful predictors of disease progression and outcome in specific subtypes of mammary carcinoma. (PMID:23351331)
• conclude that ARTN is one mediator of acquired resistance to trastuzumab in HER2-positive mammary carcinoma cells (PMID:24737320)
• This is the first report of increased levels of a neurotrophic factor and of a glial cell line-derived neurotrophic factor family member in GAD patients. (PMID:24994477)
• Artemin expression promotes invasiveness and neurotrophic function of pancreatic adenocarcinoma cells in vivo and in vitro (PMID:25243385)
• mRNA expression of Artemin (Artn) in the tongue mucosa of patients with burning mouth syndrome was significantly higher than that of control subjects. (PMID:26270588)
• High ARTN increased xenograft tumor size and metastasis in hepatocellular carcinoma. (PMID:26675549)
• Report the activity, pharmacokinetics, conformational dynamics and biophysical properties of different glycoforms of ART. (PMID:26908049)
• AhR activation and ARTN expression were positively correlated in the epidermis of patients with atopic dermatitis. (PMID:27869817)
• The data suggest that ARTN and MMP-9 are involved in the occurrence, development, invasion and metastasis of EC, and play a synergistic role in the development of EC and lymphatic metastasis. (PMID:29254290)
• Artemin induced CXCR4 expression. (PMID:29453972)
• In human skin, either with or without atopic dermatitis (AD), there was negative correlation between the staining intensity of HSD11beta1 and ARTN. The mechanism of skin sensitivity in AD could be explained partly by decreased HSD11beta1 expression and subsequent ARTN overexpression. (PMID:29474943)
• Artemin could promote the proliferation and invasiveness of lung cancer cells in vitro and therefore could be a new potential target to combat lung cancer. (PMID:29575549)
• Attention-deficit/hyperactivity disorder risk alleles correlated with increased expression (and decreased methylation) of ARTN and PIDD1 and with a decreased expression (and increased methylation) of C2orf82. (PMID:31582733)
• Anti-amyloidogenic effect of artemin on alpha-synuclein. (PMID:32673279)
• Human splenic TER cells: A relevant prognostic factor acting via the artemin-GFRalpha3-ERK pathway in pancreatic ductal adenocarcinoma. (PMID:33236361)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	artna	ENSDARG00000096252
mus_musculus	Artn	ENSMUSG00000028539
rattus_norvegicus	Artn	ENSRNOG00000019842

Paralogs (3): PSPN (ENSG00000125650), GDNF (ENSG00000168621), NRTN (ENSG00000171119)

Protein

Protein identifiers

Artemin — Q5T4W7 (reviewed: Q5T4W7)

Alternative names: Enovin, Neublastin

All UniProt accessions (4): E9PIK2, E9PLG3, E9PN22, Q5T4W7

UniProt curated annotations — full annotation on UniProt →

Function. Growth factor that supports the survival of sensory and sympathetic peripheral neurons in culture and also supports the survival of dopaminergic neurons of the ventral mid-brain. Acts by binding to its coreceptor, GFRA3, leading to autophosphorylation and activation of the RET receptor. Strong attractant of gut hematopoietic cells thus promoting the formation Peyer’s patch-like structures, a major component of the gut-associated lymphoid tissue.

Subunit / interactions. Homodimer; disulfide-linked. Interacts with GFRA3 coreceptor and RET: forms a 2:2:2 ternary complex composed of ARTN ligand, GFRA3 and RET receptor.

Subcellular location. Secreted.

Tissue specificity. Ubiquitous. Expressed at high levels in peripheral tissues including prostate, placenta, pancreas, heart, kidney, pituitary gland, lung and testis. Expressed at low levels in the brain.

Similarity. Belongs to the TGF-beta family. GDNF subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q5T4W7-1	1	yes
Q5T4W7-2	2
Q5T4W7-3	3

RefSeq proteins (3): NP_001129687, NP_476431, NP_476432* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001839	TGF-b_C	Domain
IPR029034	Cystine-knot_cytokine	Homologous_superfamily
IPR043401	GDNF_fam	Family

Pfam: PF00019

UniProt features (24 total): strand 6, disulfide bond 4, helix 3, compositionally biased region 3, splice variant 2, signal peptide 1, propeptide 1, sequence variant 1, chain 1, region of interest 1, glycosylation site 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
2ASK	X-RAY DIFFRACTION	1.55
2GYZ	X-RAY DIFFRACTION	1.76
2GH0	X-RAY DIFFRACTION	1.92
2GYR	X-RAY DIFFRACTION	2.6
6Q2S	ELECTRON MICROSCOPY	3.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T4W7-F1	75.83	0.47

Functional residue map

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

Disulfide bonds (4): 154–218, 187, 123–188, 150–216

Glycosylation sites (1): 202

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-419037	NCAM1 interactions
R-HSA-5673001	RAF/MAP kinase cascade
R-HSA-8853659	RET signaling
R-HSA-1266738	Developmental Biology
R-HSA-162582	Signal Transduction
R-HSA-375165	NCAM signaling for neurite out-growth
R-HSA-422475	Axon guidance
R-HSA-5683057	MAPK family signaling cascades
R-HSA-5684996	MAPK1/MAPK3 signaling
R-HSA-9675108	Nervous system development

MSigDB gene sets: 825 (showing top): PID_FANCONI_PATHWAY, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, REACTOME_MEIOTIC_RECOMBINATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_DNA_RECOMBINATION, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, PID_TELOMERASE_PATHWAY, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, MORF_RAB5A, GOBP_REGULATION_OF_DNA_TEMPLATED_DNA_REPLICATION, GOBP_TELOMERE_CAPPING

GO Biological Process (9): signal transduction (GO:0007165), neuroblast proliferation (GO:0007405), axon guidance (GO:0007411), peripheral nervous system development (GO:0007422), glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860), induction of positive chemotaxis (GO:0050930), Peyer’s patch morphogenesis (GO:0061146), lymphocyte migration into lymphoid organs (GO:0097021), nervous system development (GO:0007399)

GO Molecular Function (5): signaling receptor binding (GO:0005102), growth factor activity (GO:0008083), glial cell-derived neurotrophic factor receptor binding (GO:0030116), receptor tyrosine kinase binding (GO:0030971), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Axon guidance	2
NCAM signaling for neurite out-growth	1
MAPK1/MAPK3 signaling	1
Nervous system development	1
Signal Transduction	1
MAPK family signaling cascades	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
system development	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
generation of neurons	1
neural precursor cell proliferation	1
axonogenesis	1
neuron projection guidance	1
nervous system development	1
cell surface receptor protein tyrosine kinase signaling pathway	1
positive regulation of positive chemotaxis	1
Peyer’s patch development	1
tissue morphogenesis	1
lymphocyte migration	1
protein binding	1
receptor ligand activity	1
growth factor receptor binding	1
signaling receptor binding	1
protein tyrosine kinase binding	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

652 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARTN	GFRA3	O60609	999
ARTN	GFRA1	P56159	998
ARTN	RET	P07949	996
ARTN	GFRA2	O00451	995
ARTN	GFRA4	Q9GZZ7	993
ARTN	SDC3	O75056	818
ARTN	NTRK1	P04629	802
ARTN	NGF	P01138	751
ARTN	GDNF	P39905	723
ARTN	NRTN	Q99748	715
ARTN	PSPN	O60542	675
ARTN	NTF3	P20783	656
ARTN	NTRK2	Q16620	645
ARTN	NTRK3	Q16288	626
ARTN	GFRAL	Q6UXV0	618

IntAct

6 interactions, top by confidence:

A	B	Type	Score
ARTN	GFRA3	psi-mi:“MI:0407”(direct interaction)	0.650
ARTN	ARTN	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (1): GFRA3 (Reconstituted Complex)

ESM2 similar proteins: A0A0U1RR11, A0A0U1RRI6, A6NCS6, A6NJG2, B0BN44, D3YXK1, E9PY61, E9Q0B3, F5H4A9, O00220, O00221, P09038, P0DPI3, P22083, P98077, Q08AU9, Q2M2W7, Q2M3V2, Q2TBI2, Q5F267, Q5FW56, Q5IS69, Q5R866, Q5T4W7, Q5TM52, Q5U4P2, Q5VTJ3, Q659K9, Q673H1, Q69ZB3, Q6AYE8, Q6IPT2, Q6PJ61, Q7RTU4, Q7TSX9, Q7YR31, Q80SU3, Q86SH2, Q86Y97, Q8NBR0

Diamond homologs: O60542, O70300, O70301, P39905, P48540, P97463, Q06PM8, Q07731, Q5T4W7, Q6AYE8, Q98TU0, Q99748, Q9Z0L2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ARTN	up-regulates	GFRA3	binding

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	42
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
3247692	NC_000001.10:g.(?44201934)(44482805_?)del	Pathogenic
395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	Pathogenic
689310	GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1	Pathogenic

SpliceAI

4257 predictions. Top by Δscore:

Variant	Effect	Δscore
8:89935608:TGTAT:T	acceptor_gain	1.0000
8:89935609:GTAT:G	acceptor_gain	1.0000
8:89935610:TAT:T	acceptor_gain	1.0000
8:89935613:C:CC	acceptor_gain	1.0000
8:89935614:T:C	acceptor_loss	1.0000
8:89943243:T:TA	donor_gain	1.0000
8:89943249:TAACC:T	donor_loss	1.0000
8:89943250:AAC:A	donor_loss	1.0000
8:89943251:A:C	donor_loss	1.0000
8:89943252:C:A	donor_loss	1.0000
8:89943363:TGACC:T	acceptor_loss	1.0000
8:89943367:C:CA	acceptor_loss	1.0000
8:89943368:T:C	acceptor_loss	1.0000
8:89946316:A:AC	acceptor_gain	1.0000
8:89946320:G:C	acceptor_gain	1.0000
8:89946320:G:GC	acceptor_gain	1.0000
8:89947822:A:AC	donor_gain	1.0000
8:89947823:C:CC	donor_gain	1.0000
8:89950189:A:C	donor_gain	1.0000
8:89950204:C:A	donor_gain	1.0000
8:89953242:A:AC	donor_gain	1.0000
8:89953243:C:CG	donor_gain	1.0000
8:89953243:CAGAT:C	donor_gain	1.0000
8:89955551:AATCC:A	acceptor_gain	1.0000
8:89955553:TCC:T	acceptor_gain	1.0000
8:89955554:CC:C	acceptor_gain	1.0000
8:89955554:CCC:C	acceptor_gain	1.0000
8:89955555:CC:C	acceptor_gain	1.0000
8:89955556:C:CC	acceptor_gain	1.0000
8:89955556:CT:C	acceptor_loss	1.0000

AlphaMissense

1351 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:43936542:T:G	F147C	0.999
1:43936694:T:C	F198L	0.999
1:43936695:T:G	F198C	0.999
1:43936696:C:A	F198L	0.999
1:43936696:C:G	F198L	0.999
1:43936717:G:C	W205C	0.999
1:43936717:G:T	W205C	0.999
1:43936695:T:C	F198S	0.998
1:43936542:T:C	F147S	0.997
1:43936541:T:C	F147L	0.996
1:43936543:C:A	F147L	0.996
1:43936543:C:G	F147L	0.996
1:43936547:T:C	F149L	0.995
1:43936549:C:A	F149L	0.995
1:43936549:C:G	F149L	0.995
1:43936551:G:A	C150Y	0.995
1:43936699:G:A	M199I	0.995
1:43936699:G:C	M199I	0.995
1:43936699:G:T	M199I	0.995
1:43936524:C:T	S141F	0.994
1:43936548:T:G	F149C	0.994
1:43936671:C:A	P190H	0.994
1:43936715:T:A	W205R	0.994
1:43936715:T:C	W205R	0.994
1:43936550:T:A	C150S	0.992
1:43936551:G:C	C150S	0.992
1:43936556:G:T	G152C	0.992
1:43936552:C:G	C150W	0.991
1:43936592:A:C	S164R	0.991
1:43936594:C:A	S164R	0.991

dbSNP variants (sampled 300 via entrez): RS1000076687 (1:43935284 G>A,T), RS1000224504 (1:43934925 T>C), RS1000308364 (1:43932217 C>T), RS1000402784 (1:43937696 C>A,T), RS1000680304 (1:43931930 T>G), RS1000683913 (1:43936922 C>A), RS1001818979 (1:43932458 T>C), RS1002164114 (1:43935787 G>C,T), RS1002515156 (1:43935416 C>T), RS1002685839 (1:43933870 G>A), RS1003114417 (1:43937476 G>A), RS1003227766 (1:43933632 G>A,C,T), RS1004173469 (1:43931858 C>G), RS1004436952 (1:43934550 C>G,T), RS1004632302 (1:43935853 G>A,C)

Disease associations

OMIM: gene MIM:603886 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): developmental and epileptic encephalopathy (MONDO:0100620)

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004521_235	Autism spectrum disorder or schizophrenia	4.000000e-10
GCST008529_53	Tea consumption	9.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010091	tea consumption measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	increases abundance, affects cotreatment, decreases reaction, increases expression, increases reaction	5
Estradiol	decreases reaction, increases expression, affects cotreatment	3
Air Pollutants	increases abundance, increases expression	2
Vehicle Emissions	increases expression, increases reaction, decreases reaction, increases abundance	2
Tamoxifen	decreases response to substance, affects cotreatment, decreases reaction, increases expression	2
Tobacco Smoke Pollution	increases expression, decreases expression	2
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
enniatins	increases expression	1
6-formylindolo(3,2-b)carbazole	increases expression	1
YC137	decreases reaction, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
N-(2-(3H-indol-3-yl)ethyl)-9-isopropyl-2-(5-methyl-3-pyridyl)purin-6-amine	increases expression, decreases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Fulvestrant	decreases reaction, increases expression, decreases response to substance	1
Vorinostat	affects cotreatment, increases expression	1
Ethanol	increases abundance, increases expression, affects cotreatment	1
Arsenic	affects expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Camptothecin	decreases response to substance	1
Carmustine	decreases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Gasoline	increases abundance, increases expression, affects cotreatment	1
Lead	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Polycyclic Aromatic Hydrocarbons	increases expression, affects cotreatment, increases abundance	1
Silicon Dioxide	decreases expression	1
Smoke	increases expression	1
Triclosan	decreases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_F1N2	HyCyte BT-549 KO-hARTN	Cancer cell line	Female
CVCL_F1RM	HyCyte MDA-MB-231 KO-hARTN	Cancer cell line	Female
CVCL_F1RT	HyCyte MDA-MB-436 KO-hARTN	Cancer cell line	Female
CVCL_F1S7	HyCyte NCI-H1975 KO-hARTN	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03347526	PHASE3	SUSPENDED	A Novel Approach to Infantile Spasms
NCT03421496	PHASE3	TERMINATED	A Study to Assess Cannabidiol Oral Solution With Vigabatrin as Initial Therapy in Participants With Infantile Spasms
NCT06719141	PHASE3	RECRUITING	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathies (DEE)
NCT06908226	PHASE3	ENROLLING_BY_INVITATION	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE)
NCT04289467	PHASE2	RECRUITING	Treatment of Refractory Infantile Spasms With Fenfluramine
NCT05626634	PHASE2	COMPLETED	Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
NCT04727970	PHASE1	COMPLETED	Tricaprilin Infantile Spasms Pilot Study
NCT06700811	PHASE1	RECRUITING	Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
NCT03876444	PHASE2/PHASE3	UNKNOWN	Intravenous Methylprednisolone Versus Oral Prednisolone for Infantile Spasms
NCT05279118	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Ketogenic Diet vs ACTH for the Treatment of Children With West Syndrome
NCT05364021	PHASE1/PHASE2	COMPLETED	Study to Investigate LP352 in Subjects With Developmental and Epileptic Encephalopathies
NCT06983158	PHASE1/PHASE2	SUSPENDED	A Clinical Trial of CAP-002 Gene Therapy in Pediatric Patients With Syntaxin-Binding Protein 1 (STXBP1) Encephalopathy
NCT04937062	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy
NCT04302116	Not specified	RECRUITING	Vigabatrin With High Dose Prednisolone Combination Therapy vs Vigabatrin Alone for Infantile Spasm
NCT05538936	Not specified	COMPLETED	The Effect of Spa and Massage on Babies on Colic Symptoms
NCT06149663	Not specified	AVAILABLE	Intermediate-Size Expanded Access Protocol (EAP) for LP352
NCT06266234	Not specified	RECRUITING	Characterization by Automated System on Infantile Spasmes
NCT06380192	Not specified	RECRUITING	Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data
NCT07396883	Not specified	NOT_YET_RECRUITING	Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
NCT07413211	Not specified	RECRUITING	Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
NCT07531511	Not specified	NOT_YET_RECRUITING	SLC6A1-NDD Prospective Longitudinal Natural History Study
NCT07585643	Not specified	NOT_YET_RECRUITING	IBIS - Investigating Reliability of BIS and SEDLINE Monitoring in Children With Developmental and Epileptic Encephalopathies (DEE).