EVI2A

Summary

EVI2A (ecotropic viral integration site 2A, HGNC:3499) is a protein-coding gene on chromosome 17q11.2, encoding Protein EVI2A (P22794). May complex with itself or/and other proteins within the membrane, to function as part of a cell-surface receptor.

Predicted to enable transmembrane signaling receptor activity. Located in several cellular components, including Golgi apparatus; cilium; and cytosol.

Source: NCBI Gene 2123 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 116 total — 56 pathogenic, 7 likely-pathogenic
• MANE Select transcript: NM_014210

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3499
Approved symbol	EVI2A
Name	ecotropic viral integration site 2A
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Aliases	EVDA
Ensembl gene	ENSG00000126860
Ensembl biotype	protein_coding
OMIM	158380
Entrez	2123

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000247270, ENST00000461237, ENST00000462804, ENST00000895991

RefSeq mRNA: 2 — MANE Select: NM_014210 NM_001003927, NM_014210

CCDS: CCDS32608, CCDS42293

Canonical transcript exons

ENST00000462804 — 2 exons

Exon	Start	End
ENSE00002709648	31321495	31321622
ENSE00003899186	31316410	31319023

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 99.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.9874 / max 1331.4671, expressed in 988 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165235	32.7119	986
165236	0.1659	70
165234	0.1096	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	99.49	gold quality
inferior vagus X ganglion	UBERON:0005363	99.09	gold quality
endothelial cell	CL:0000115	98.90	gold quality
monocyte	CL:0000576	98.82	gold quality
mononuclear cell	CL:0000842	98.81	gold quality
leukocyte	CL:0000738	98.73	gold quality
subthalamic nucleus	UBERON:0001906	98.55	gold quality
lateral globus pallidus	UBERON:0002476	98.55	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.40	gold quality
spinal cord	UBERON:0002240	98.26	gold quality
pons	UBERON:0000988	98.25	gold quality
substantia nigra pars reticulata	UBERON:0001966	98.01	gold quality
superior vestibular nucleus	UBERON:0007227	97.54	gold quality
globus pallidus	UBERON:0001875	97.31	gold quality
dorsal plus ventral thalamus	UBERON:0001897	97.14	gold quality
medial globus pallidus	UBERON:0002477	96.93	gold quality
medulla oblongata	UBERON:0001896	96.76	gold quality
cranial nerve II	UBERON:0000941	96.47	gold quality
substantia nigra pars compacta	UBERON:0001965	96.31	gold quality
granulocyte	CL:0000094	96.19	gold quality
ventral tegmental area	UBERON:0002691	96.09	gold quality
midbrain	UBERON:0001891	96.06	gold quality
substantia nigra	UBERON:0002038	95.96	gold quality
lateral nuclear group of thalamus	UBERON:0002736	94.77	gold quality
vermiform appendix	UBERON:0001154	94.65	gold quality
putamen	UBERON:0001874	94.32	gold quality
Ammon’s horn	UBERON:0001954	94.20	gold quality
lymph node	UBERON:0000029	94.19	gold quality
periodontal ligament	UBERON:0008266	93.84	gold quality
bone marrow	UBERON:0002371	93.53	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-HCAD-8	yes	47.16
E-GEOD-134144	yes	27.17
E-CURD-112	yes	26.33
E-HCAD-11	yes	17.26
E-MTAB-6701	yes	16.63
E-GEOD-84465	yes	10.72
E-ANND-3	yes	8.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

121 targeting EVI2A, 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-8485	100.00	77.57	4731
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-1277-5P	100.00	73.95	5056
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-4795-3P	100.00	74.62	4024
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509

Literature-anchored findings (GeneRIF, showing 3)

• Increased expression of ecotropic viral integration site 2A promotes osteosarcoma evolution through activating MEK/ERK pathway. (PMID:31774019)
• Prognostic Value of DNA Methylation-Driven Genes in Clear Cell Renal Cell Carcinoma: A Study Based on Methylation and Transcriptome Analyses. (PMID:32733620)
• SMYD2 Imparts Gemcitabine Resistance to Pancreatic Adenocarcinoma Cells by Upregulating EVI2A. (PMID:37812330)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Evi2a	ENSMUSG00000078771
rattus_norvegicus	Evi2a	ENSRNOG00000022764

Protein

Protein identifiers

Protein EVI2A — P22794 (reviewed: P22794)

Alternative names: Ecotropic viral integration site 2A protein homolog

All UniProt accessions (1): P22794

UniProt curated annotations — full annotation on UniProt →

Function. May complex with itself or/and other proteins within the membrane, to function as part of a cell-surface receptor.

Subcellular location. Membrane.

Similarity. Belongs to the EVI2A family.

Isoforms (2)

UniProt ID	Names	Canonical?
P22794-1	1	yes
P22794-2	2

RefSeq proteins (2): NP_001003927, NP_055025* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008608	Ectropic_vir_integratn_site_2A	Family

Pfam: PF05399

UniProt features (14 total): glycosylation site 5, topological domain 2, signal peptide 1, chain 1, splice variant 1, transmembrane region 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P22794-F1	56.81	0.03

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 (1): 211

Glycosylation sites (5): 49, 73, 112, 31, 38

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 302 (showing top): WALLACE_PROSTATE_CANCER_RACE_UP, MCLACHLAN_DENTAL_CARIES_UP, LU_IL4_SIGNALING, MODULE_45, MODULE_64, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, RACCACAR_AML_Q6, chr17q11, RODRIGUES_NTN1_TARGETS_DN, GOLDRATH_ANTIGEN_RESPONSE, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, MODULE_66

GO Biological Process (0):

GO Molecular Function (2): transmembrane signaling receptor activity (GO:0004888), protein binding (GO:0005515)

GO Cellular Component (6): Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), cilium (GO:0005929), ciliary transition zone (GO:0035869), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
signaling receptor activity	1
binding	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

652 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EVI2A	EVI2B	P34910	973
EVI2A	OMG	P23515	869
EVI2A	RNF135	Q8IUD6	809
EVI2A	NF1	P21359	791
EVI2A	ADAP2	Q9NPF8	765
EVI2A	FHDC1	Q9C0D6	639
EVI2A	CRLF3	Q8IUI8	611
EVI2A	TEFM	Q96QE5	609
EVI2A	AK3	Q9UIJ7	602
EVI2A	UTP6	Q9NYH9	596
EVI2A	AK4	P27144	589
EVI2A	SSH2	Q76I76	584
EVI2A	RAB11FIP4	Q86YS3	580
EVI2A	LRRC37B	Q96QE4	580
EVI2A	COPRS	Q9NQ92	579

IntAct

27 interactions, top by confidence:

A	B	Type	Score
EVI2A	MALL	psi-mi:“MI:0915”(physical association)	0.560
MAL	EVI2A	psi-mi:“MI:0915”(physical association)	0.560
EVI2A	RTP2	psi-mi:“MI:0915”(physical association)	0.560
EVI2A	PLP2	psi-mi:“MI:0915”(physical association)	0.560
EVI2A	ATP6V0C	psi-mi:“MI:0915”(physical association)	0.560
EVI2A	PLPP4	psi-mi:“MI:0915”(physical association)	0.560
EVI2A	UBIAD1	psi-mi:“MI:0915”(physical association)	0.560
EVI2A	GOPC	psi-mi:“MI:0915”(physical association)	0.500
EVI2A	RORC	psi-mi:“MI:0915”(physical association)	0.370
RNF114	EVI2A	psi-mi:“MI:0915”(physical association)	0.370
EVI2A	NF1	psi-mi:“MI:0914”(association)	0.350
MAL	EVI2A	psi-mi:“MI:0915”(physical association)	0.000
RTP2	EVI2A	psi-mi:“MI:0915”(physical association)	0.000
PLP2	EVI2A	psi-mi:“MI:0915”(physical association)	0.000
ATP6V0C	EVI2A	psi-mi:“MI:0915”(physical association)	0.000
UBIAD1	EVI2A	psi-mi:“MI:0915”(physical association)	0.000
MALL	EVI2A	psi-mi:“MI:0915”(physical association)	0.000
PLPP4	EVI2A	psi-mi:“MI:0915”(physical association)	0.000
EVI2A		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (26): GOPC (Affinity Capture-MS), FGFR1 (Affinity Capture-MS), NCEH1 (Affinity Capture-MS), ARRB2 (Affinity Capture-MS), ARL6IP5 (Affinity Capture-MS), DOK2 (Affinity Capture-MS), GOPC (Affinity Capture-MS), ARL6IP5 (Affinity Capture-MS), DOK2 (Affinity Capture-MS), FGFR1 (Affinity Capture-MS), NCEH1 (Affinity Capture-MS), EVI2A (Two-hybrid), EVI2A (Two-hybrid), MALL (Two-hybrid), MAL (Two-hybrid)

ESM2 similar proteins: A0A1B0GTR0, A0A1B0GVN3, A6H7F9, A6NFE2, A7TZG1, A7TZG3, A7XV04, A7XV14, B0ZE70, B1B212, B2RTN2, B3F0J0, D2HQI1, O97687, P01586, P06740, P16745, P22794, P40221, P40933, P48092, P48346, P97604, Q01151, Q28028, Q29RT9, Q3TB92, Q3Y5G8, Q4GZL1, Q4U0U2, Q5BK38, Q5DT36, Q5DT37, Q5RBQ2, Q5RFR2, Q5UKY4, Q5WQV8, Q62875, Q68D85, Q75SZ9

Diamond homologs: P20934, P22794

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	56
Likely pathogenic	7
Uncertain significance	41
Likely benign	7
Benign	2

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1070145	NC_000017.10:g.(?29559081)(29701173_?)del	Pathogenic
1070146	NC_000017.10:g.(?29586040)(29701173_?)del	Pathogenic
1070147	NC_000017.10:g.(?29587381)(29662055_?)del	Pathogenic
1070266	NC_000017.10:g.(?29527428)(29657848_?)del	Pathogenic
1071967	NC_000017.10:g.(?29422055)(29701173_?)del	Pathogenic
1072078	NC_000017.10:g.(?29422322)(29664606_?)del	Pathogenic
1072079	NC_000017.10:g.(?29422322)(29665163_?)del	Pathogenic
1072219	NC_000017.10:g.(?29587625)(29669475_?)del	Pathogenic
1072220	NC_000017.10:g.(?29588709)(29701193_?)del	Pathogenic
1072221	NC_000017.10:g.(?29592237)(29653280_?)del	Pathogenic
1073833	NC_000017.10:g.(?29422322)(29701178_?)del	Pathogenic
1433157	NC_000017.10:g.(?29527488)(29703830_?)del	Pathogenic
1454789	NC_000017.10:g.(?29622128)(29667673_?)del	Pathogenic
1458070	NC_000017.10:g.(?29585342)(29665843_?)del	Pathogenic
1458077	NC_000017.10:g.(?29496899)(29701173_?)del	Pathogenic
1460273	NC_000017.10:g.(?29546003)(29701173_?)del	Pathogenic
217072	NM_000267.3(NF1):c.2048_5041del	Pathogenic
217085	NM_000267.3(NF1):c.4773-22561_6311del	Pathogenic
2422715	NC_000017.10:g.(?29422055)(29662069_?)del	Pathogenic
2422717	NC_000017.10:g.(?29541449)(29701173_?)del	Pathogenic
2422719	NC_000017.10:g.(?29556833)(29701173_?)del	Pathogenic
2422721	NC_000017.10:g.(?29562619)(29701173_?)del	Pathogenic
2422722	NC_000017.10:g.(?29575982)(29665843_?)del	Pathogenic
2422723	NC_000017.10:g.(?29585352)(29670163_?)del	Pathogenic
2422724	NC_000017.10:g.(?29592237)(29701173_?)del	Pathogenic
2422725	NC_000017.10:g.(?29622027)(29654877_?)del	Pathogenic
2422726	NC_000017.10:g.(?29645324)(29679452_?)del	Pathogenic
2422730	NC_000017.10:g.(?29527420)(29701173_?)del	Pathogenic
2422742	NC_000017.10:g.(?29559879)(29685283_?)del	Pathogenic
3242852	NC_000017.10:g.(?29422055)(29679452_?)del	Pathogenic

SpliceAI

469 predictions. Top by Δscore:

Variant	Effect	Δscore
17:31319021:AATC:A	acceptor_loss	0.9900
17:31319022:ATCTG:A	acceptor_loss	0.9900
17:31319023:TCTGT:T	acceptor_loss	0.9900
17:31319024:C:CC	acceptor_gain	0.9900
17:31319024:CT:C	acceptor_loss	0.9900
17:31319025:T:G	acceptor_loss	0.9900
17:31319304:T:TA	donor_gain	0.9900
17:31319020:CAAT:C	acceptor_gain	0.9800
17:31319026:G:C	acceptor_loss	0.9800
17:31320514:C:CC	acceptor_gain	0.9800
17:31318311:T:C	donor_gain	0.9700
17:31321490:CCTA:C	donor_loss	0.9700
17:31321491:CTAC:C	donor_loss	0.9700
17:31321492:TAC:T	donor_loss	0.9700
17:31321493:A:AT	donor_loss	0.9700
17:31321494:C:CA	donor_loss	0.9700
17:31318307:CCTAT:C	donor_gain	0.9600
17:31318336:T:TA	donor_gain	0.9600
17:31319022:AT:A	acceptor_gain	0.9600
17:31318608:G:C	donor_gain	0.9500
17:31318612:AG:A	donor_gain	0.9500
17:31318643:T:TA	donor_gain	0.9500
17:31320512:TA:T	acceptor_gain	0.9500
17:31318355:T:A	donor_gain	0.9400
17:31319021:AAT:A	acceptor_gain	0.9400
17:31320470:T:C	acceptor_gain	0.9400
17:31318613:G:C	donor_gain	0.9300
17:31319019:GCAAT:G	acceptor_gain	0.9300
17:31319020:CAATC:C	acceptor_gain	0.9300
17:31321005:C:CC	acceptor_gain	0.9300

AlphaMissense

1553 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:31318569:A:G	C149R	0.991
17:31318602:A:G	C138R	0.983
17:31318586:G:T	A143E	0.980
17:31318466:A:C	F183C	0.971
17:31318447:C:A	W189C	0.968
17:31318447:C:G	W189C	0.968
17:31318567:A:C	C149W	0.964
17:31318477:G:C	S179R	0.963
17:31318477:G:T	S179R	0.963
17:31318479:T:G	S179R	0.963
17:31318580:A:C	L145R	0.963
17:31318466:A:G	F183S	0.962
17:31318536:C:G	A160P	0.962
17:31318568:C:T	C149Y	0.961
17:31318449:A:G	W189R	0.958
17:31318449:A:T	W189R	0.958
17:31318580:A:T	L145H	0.957
17:31318474:A:C	N180K	0.956
17:31318474:A:T	N180K	0.956
17:31318465:A:C	F183L	0.953
17:31318465:A:T	F183L	0.953
17:31318467:A:G	F183L	0.953
17:31318470:C:G	D182H	0.951
17:31318559:A:G	L152P	0.950
17:31318574:A:C	L147R	0.950
17:31318559:A:C	L152R	0.948
17:31318480:T:A	R178S	0.947
17:31318480:T:G	R178S	0.947
17:31318535:G:T	A160E	0.947
17:31318580:A:G	L145P	0.947

dbSNP variants (sampled 300 via entrez): RS1000103404 (17:31322694 T>C), RS1000328636 (17:31321720 A>G), RS1000345069 (17:31316512 T>C), RS1000666845 (17:31317234 C>G,T), RS1000699680 (17:31316884 G>C), RS1000922625 (17:31318013 T>G), RS1000930613 (17:31323156 G>A), RS1001396208 (17:31317744 T>C), RS1003199634 (17:31319128 A>C), RS1003374058 (17:31320107 A>G), RS1004034830 (17:31320168 A>G), RS1005826964 (17:31318717 G>A,C), RS1006086091 (17:31317683 T>G), RS1006148295 (17:31318436 G>A,C), RS1007011107 (17:31322571 G>C)

Disease associations

OMIM: gene MIM:158380 | disease phenotypes: MIM:162200, MIM:607785

GenCC curated gene-disease

Mondo (4): neurofibromatosis type 1 (MONDO:0018975), juvenile myelomonocytic leukemia (MONDO:0011908), hereditary neoplastic syndrome (MONDO:0015356), hereditary breast ovarian cancer syndrome (MONDO:0003582)

Orphanet (4): Neurofibromatosis type 1 (Orphanet:636), Inherited cancer-predisposing syndrome (Orphanet:140162), Juvenile myelomonocytic leukemia (Orphanet:86834), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST006464_23	Endometrial cancer	4.000000e-08
GCST006465_1	Endometrial cancer (endometrioid histology)	1.000000e-07
GCST010703_342	Brain morphology (MOSTest)	4.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431
D054429	Leukemia, Myelomonocytic, Juvenile	C04.557.337.539.525; C15.378.190.615.520; C15.378.508.539.525
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
D009456	Neurofibromatosis 1	C04.557.580.600.580.590.650; C04.700.631.650; C10.562.600.500; C10.574.500.549.400; C10.668.829.675; C16.320.400.560.400; C16.320.700.633.650

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
Estradiol	affects expression, affects cotreatment, decreases expression	2
Nickel	increases expression	2
Progesterone	decreases expression, increases expression, affects cotreatment	2
aristolochic acid I	increases expression	1
sotorasib	affects cotreatment, decreases expression	1
ethylbenzene	increases expression	1
triphenyl phosphate	affects expression	1
bis(tri-n-butyltin)oxide	increases expression	1
bisphenol A	affects cotreatment, increases expression	1
deoxynivalenol	increases expression	1
butyraldehyde	increases expression	1
ochratoxin A	decreases expression	1
2-xylene	increases expression	1
1-nitropyrene	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
incobotulinumtoxinA	increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Anisomycin	increases expression	1
Benzene	increases expression	1
Hexachlorocyclohexane	increases expression	1
Calcitriol	decreases expression	1
Cyclophosphamide	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Fluoxetine	increases expression	1
Indomethacin	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00169611	PHASE4	COMPLETED	NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate
NCT03975829	PHASE4	RECRUITING	Pediatric Long-Term Follow-up and Rollover Study
NCT02471339	PHASE3	COMPLETED	Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain
NCT03871257	PHASE3	ACTIVE_NOT_RECRUITING	A Study of the Drugs Selumetinib Versus Carboplatin/Vincristine in Patients With Neurofibromatosis and Low-Grade Glioma
NCT04461886	PHASE3	TERMINATED	A Long-term Study of NPC-12G Gel in Neurofibromatosis Type I
NCT04924608	PHASE3	ACTIVE_NOT_RECRUITING	Efficacy and Safety of Selumetinib in Adults With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas
NCT05913037	PHASE3	ACTIVE_NOT_RECRUITING	FCN-159 in Adult Patients With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas
NCT00021541	PHASE2	COMPLETED	R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas
NCT00030264	PHASE2	COMPLETED	Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas
NCT00076102	PHASE2	COMPLETED	Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas
NCT00304083	PHASE2	COMPLETED	Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors
NCT00326872	PHASE2	TERMINATED	AZD2171 in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibroma and/or Neurofibroma Near the Spine
NCT00589784	PHASE2	COMPLETED	Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma
NCT00634270	PHASE2	COMPLETED	A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas
NCT00754780	PHASE2	COMPLETED	Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1
NCT00846430	PHASE2	COMPLETED	Medical Treatment of High-Risk Neurofibromas
NCT00853580	PHASE2	COMPLETED	A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1
NCT01125046	PHASE2	COMPLETED	Bevacizumab in Treating Patients With Recurrent or Progressive Meningiomas
NCT01402817	PHASE2	TERMINATED	Study of Sutent®/Sunitinib (SU11248) in Subjects With NF-1 Plexiform Neurofibromas
NCT01412892	PHASE2	COMPLETED	Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas
NCT01553149	PHASE2	COMPLETED	Low-Dose or High-Dose Lenalidomide in Treating Younger Patients With Recurrent, Refractory, or Progressive Pilocytic Astrocytoma or Optic Pathway Glioma
NCT01673009	PHASE2	COMPLETED	Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas
NCT01968590	PHASE2	TERMINATED	Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1)
NCT02096471	PHASE2	COMPLETED	MEK Inhibitor PD-0325901 Trial in Adolescents and Adults With NF1
NCT02101736	PHASE2	COMPLETED	Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults
NCT02332902	PHASE2	COMPLETED	Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T
NCT02407405	PHASE2	ACTIVE_NOT_RECRUITING	MEK 1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas
NCT02728388	PHASE2	RECRUITING	Photodynamic Therapy for Benign Dermal Neurofibromas- Phase II
NCT02839720	PHASE2	COMPLETED	Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma
NCT02964884	PHASE2	ACTIVE_NOT_RECRUITING	Interventions for Reading Disabilities in NF1
NCT03090971	PHASE2	COMPLETED	Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1
NCT03109301	PHASE2	WITHDRAWN	Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST)
NCT03190915	PHASE2	ACTIVE_NOT_RECRUITING	Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia
NCT03231306	PHASE2	COMPLETED	Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas
NCT03433183	PHASE2	COMPLETED	SARC031: MEK Inhibitor Selumetinib (AZD6244) in Combination With the mTOR Inhibitor Sirolimus for Patients With Malignant Peripheral Nerve Sheath Tumors
NCT03741101	PHASE2	UNKNOWN	Treatment of NF1-related Plexiform Neurofibroma With Trametinib
NCT03962543	PHASE2	ACTIVE_NOT_RECRUITING	MEK Inhibitor Mirdametinib (PD-0325901) in Patients With Neurofibromatosis Type 1 Associated Plexiform Neurofibromas
NCT04435665	PHASE2	COMPLETED	NFX-179 Topical Gel Treatment in Adults With Neurofibromatosis 1 (NF1) and Cutaneous Neurofibromas (cNF)
NCT04481035	PHASE2	COMPLETED	Antioxidant Therapy With N-acetylcysteine for Learning and Motor Behavior in Children With Neurofibromatosis Type 1
NCT04481048	PHASE2	ACTIVE_NOT_RECRUITING	Antioxidant Therapy With N-acetylcysteine for Children With Neurofibromatosis Type 1