TFE3

Summary

TFE3 (transcription factor binding to IGHM enhancer 3, HGNC:11752) is a protein-coding gene on chromosome Xp11.23, encoding Transcription factor E3 (P19532). Transcription factor that acts as a master regulator of lysosomal biogenesis and immune response.

This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 7030 — RefSeq curated summary.

At a glance

• Gene–disease (curated): X-linked syndromic complex neurodevelopmental disorder (Definitive, ClinGen) — +2 more curated relationships
• Clinical variants (ClinVar): 164 total — 10 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 64
• Druggable target: yes
• Transcription factor: yes — 43 downstream targets (CollecTRI)
• MANE Select transcript: NM_006521

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11752
Approved symbol	TFE3
Name	transcription factor binding to IGHM enhancer 3
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Aliases	TFEA, bHLHe33
Ensembl gene	ENSG00000068323
Ensembl biotype	protein_coding
OMIM	314310
Entrez	7030

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000315869, ENST00000481606, ENST00000487451, ENST00000493583, ENST00000495940, ENST00000874969, ENST00000912302

RefSeq mRNA: 2 — MANE Select: NM_006521 NM_001282142, NM_006521

CCDS: CCDS14315

Canonical transcript exons

ENST00000315869 — 10 exons

Exon	Start	End
ENSE00001818374	49043111	49043357
ENSE00003461306	49033465	49033540
ENSE00003487180	49038197	49038442
ENSE00003528623	49039107	49039410
ENSE00003543099	49028726	49030601
ENSE00003572756	49031397	49031544
ENSE00003581547	49033726	49033782
ENSE00003598966	49034134	49034251
ENSE00003640780	49038010	49038114
ENSE00003709104	49040455	49040568

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 97.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.8393 / max 520.7560, expressed in 1823 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
199223	44.1266	1821
199224	4.4118	1712
199222	1.1997	846
199225	0.6829	365
209679	0.4183	211

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
inferior olivary complex	UBERON:0002127	97.32	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	96.78	gold quality
olfactory bulb	UBERON:0002264	96.66	gold quality
seminal vesicle	UBERON:0000998	96.60	gold quality
stromal cell of endometrium	CL:0002255	95.83	gold quality
secondary oocyte	CL:0000655	95.55	gold quality
left uterine tube	UBERON:0001303	95.54	gold quality
cartilage tissue	UBERON:0002418	95.52	gold quality
lateral globus pallidus	UBERON:0002476	95.51	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.49	gold quality
lower esophagus	UBERON:0013473	95.47	gold quality
right adrenal gland cortex	UBERON:0035827	95.46	gold quality
saphenous vein	UBERON:0007318	95.44	gold quality
blood	UBERON:0000178	95.39	gold quality
right adrenal gland	UBERON:0001233	95.33	gold quality
cauda epididymis	UBERON:0004360	95.32	gold quality
left adrenal gland	UBERON:0001234	95.25	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.25	gold quality
adrenal cortex	UBERON:0001235	95.20	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.13	gold quality
type B pancreatic cell	CL:0000169	95.08	gold quality
left adrenal gland cortex	UBERON:0035825	95.06	gold quality
mucosa of stomach	UBERON:0001199	94.88	gold quality
adipose tissue	UBERON:0001013	94.87	gold quality
adipose tissue of abdominal region	UBERON:0007808	94.73	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.71	gold quality
CA1 field of hippocampus	UBERON:0003881	94.66	gold quality
omental fat pad	UBERON:0010414	94.66	gold quality
peritoneum	UBERON:0002358	94.64	gold quality
pericardium	UBERON:0002407	94.64	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.29

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

43 targets.

Target	Regulation
ACP5	Activation
ASAH1	Activation
ASPSCR1
ATP11C
BEST1	Unknown
CD40
CD40LG	Activation
CDH1	Activation
CDH17
CEL
COL1A2
CTSK	Activation
CYP17A1
DCT
ERF
FLCN
FNIP2	Activation
GCK
GPNMB	Activation
IRS2	Unknown
KHDRBS1
LAMC1
MAFB
MET
MYH9	Activation
MYOG
NOTCH1
PKLR
PNPLA2
SERPINE1	Unknown

JASPAR motifs

Motif	Name	Family
MA0831.1	TFE3	bHLH-ZIP
MA0831.2	TFE3	bHLH-ZIP
MA0831.3	TFE3	bHLH-ZIP

JASPAR matrix evidence (PMIDs): PMID:23933270

Upstream regulators (CollecTRI, top): E2F3, FLCN, TFE3

miRNA regulators (miRDB)

112 targeting TFE3, 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-5193	100.00	67.26	1744
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785

Literature-anchored findings (GeneRIF, showing 40)

• Data suggest that the physical interaction of TFE3 and E2F3 facilitates transcriptional activation of the p68 gene and provides strong evidence for the specificity of E2F function. (PMID:12748276)
• Many cases of RCC in children reported under the terms “papillary” and “clear cell” likely represent Xp11.2 translocation/TFE3 gene fusion-associated RCC. (PMID:15747097)
• this is the first report of ASPS of the female genital tract with immunoreactivity for TFE3 (PMID:15782069)
• role for endogenous TFE3 in the direct regulation of CYCLIN E expression in an E2F3-dependent manner (PMID:16737956)
• MITF and TFE3 reciprocally rescue one another in lines derived from CCS or pediatric renal carcinoma. (PMID:16766266)
• Tfe3 is able to induce mono-macrophagic differentiation of U937 cells, in association with a decrease of cell proliferation and an increase of apoptosis. Also Tfe3 does not act physiologically during commitment of CD34+ hematopoietic stem cells (HSCs). (PMID:17046750)
• A renal cell carcinoma was associated with TFE3 overexpression (related to TFE3 gene fusion). The genetic abnormality in this case was likely an ASPL-TFE3 translocation. (PMID:17905124)
• Immunohistochemical discrimination between the ASPL-TFE3 fusion proteins of alveolar soft part sarcoma (PMID:18176180)
• Translocation involving the TFE3 gene is associated with renal cell carcinoma. (PMID:18278810)
• May have a role in the etiology of perivascular epithelioid cell tumors. (PMID:18510571)
• identified a Tfe3-binding site (EBox) in the MAFB promoter region (PMID:19332055)
• overexpression of TFE3 or TFEB in renal cell carinomas activates the expression of genes normally regulated by microphthalmia transcription factor in other cell types. (PMID:19396149)
• Our data suggest a scenario in which, during the course of renal cell carcinoma development, an initial PRCCTFE3-induced cell cycle delay must be numbed, thus permitting continued proliferation and progression towards full-blown malignancy. (PMID:19422821)
• The first case of nasal perivascular epithelioid cell tumor (PEComa) showing TFE3 protein is reported. (PMID:19788626)
• Melanotic Xp11 translocation renal cancer: a case with PSF-TFE3 gene fusion and up-regulation of melanogenetic transcripts. (PMID:19809274)
• The immunocytochemistry of TFE3 protein may be a powerful tool for accurate diagnosis when renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion is suspected. (PMID:20014561)
• A novel case of t(X;1)(p11.2;p34) in a renal cell carcinoma with TFE3 rearrangement and favorable outcome in a 57-year-old patient. (PMID:20620589)
• In conclusion, a subset of lesions currently classified as PEComas harbors TFE3 gene fusions. (PMID:20871214)
• TFE3-positive renal cell carcinoma occurs in adults, is more aggressive, and presents at a higher clinical stage than in paediatric cases. (PMID:21070573)
• Immuno-detection of TFE3 and RT-PCR-based identification of ASPL/TFE3 fusion transcripts are powerful tools in the diagnosis of alveolar soft part sarcoma. (PMID:21279521)
• Report variable expression of TFE3 in different variants of renal cell carcinoma. (PMID:21299348)
• TFE3 is a functional target gene of the BACH1 transcription factor according to ChIP-seq and knockdown analysis in HEK 293 cells. (PMID:21555518)
• Demonstrate here the differential expression of cathepsin K among neoplasms harboring TFE3 gene fusions. (PMID:21602817)
• In alveolar soft part sarcomas with unusual locations or histology, we consider that the detection of the ASPSCR1-TFE3 fusion transcript would be the highly effective diagnostic technique. (PMID:21835426)
• TFE3 overexpressing tumours show an aggressive behaviour and Xp11 translocation is only one of several possible underlying genomic alterations. (PMID:22037260)
• TFE3 is a useful immunohistochemical marker for diagnosis of an alveolar soft part sarcoma. (PMID:22173238)
• fusion of the TFE3 gene with several different genes, including ASPL(17q25), PRCC(1q21), PSF(1q34), NonO (Xq12) and CLTC (17q23) have been identified to date[review] (PMID:22207547)
• The potential role of TFE3 in regulating metabolic genes and glucose metabolism within skeletal muscle suggests that it may be used for treating metabolic diseases (PMID:22297304)
• Describes the clinical and histopathologic features of TFE3 and TFEB translocation renal cell carcinoma. (PMID:22446944)
• Perivascular epithelioid cell tumors with TFE3 gene fusions demonstrated intact, robust tuberin protein labeling and no TSC2 loss of heterozygosity. (PMID:22456611)
• Results suggest that adult renal cell carcinoma with TFE3 rearrangement may be a clinically aggressive tumor. (PMID:22498819)
• TFE3 translocation is associated with relapsed metastatic renal cell carcinoma. (PMID:22995920)
• Renal cell carcinoma associated with Xp11.2 translocation is characterized by at least 6 different chromosomal translocations that all result in gene fusion of the TFE3 transcription factor present at Xp11.2. (PMID:23192203)
• Results support a gain-of-function role for ASPSCR1-TFE3 contributing to proliferation and survival of cancer cells. (PMID:23288701)
• Our results support the clinical application of a TFE3 break-apart FISH assay for diagnosis and confirmation of Xp11.2 Renal cell carcinoma (PMID:23598965)
• cutaneous PEComas consistently lack TFE3 expression (PMID:23711163)
• TFE3 FISH is highly useful in renal tumor consultation material, often resolving cases with equivocal TFE3 immunohistochemistry results. (PMID:23715164)
• In summary, we are reporting a novel subset of EHE occurring in young adults, showing a distinct phenotype and YAP1-TFE3 fusions. (PMID:23737213)
• Report TFE3 rearrangement in Xp11.2 renal cell carcinoma and alveolar soft part sarcoma. (PMID:23828314)
• Typical Xp11-RCC manifests as an advanced, solid renal mass with mild persistent enhancement, a prevalence of intertumor hemorrhage/calcification, and a cortical epicenter location. (PMID:24136829)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	tfe3b	ENSDARG00000019457
danio_rerio	tfe3a	ENSDARG00000098903
mus_musculus	Tfe3	ENSMUSG00000000134
rattus_norvegicus	Tfe3	ENSRNOG00000009605
drosophila_melanogaster	Mitf	FBGN0263112
caenorhabditis_elegans		WBGENE00020930

Paralogs (3): TFEC (ENSG00000105967), TFEB (ENSG00000112561), MITF (ENSG00000187098)

Protein

Protein identifiers

Transcription factor E3 — P19532 (reviewed: P19532)

Alternative names: Class E basic helix-loop-helix protein 33

All UniProt accessions (1): P19532

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that acts as a master regulator of lysosomal biogenesis and immune response. Specifically recognizes and binds E-box sequences (5’-CANNTG-3’); efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF. Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, TFE3 phosphorylation by MTOR promotes its inactivation. Upon starvation or lysosomal stress, inhibition of MTOR induces TFE3 dephosphorylation, resulting in transcription factor activity. Specifically recognizes and binds the CLEAR-box sequence (5’-GTCACGTGAC-3’) present in the regulatory region of many lysosomal genes, leading to activate their expression, thereby playing a central role in expression of lysosomal genes. Maintains the pluripotent state of embryonic stem cells by promoting the expression of genes such as ESRRB; mTOR-dependent TFE3 cytosolic retention and inactivation promotes exit from pluripotency. Required to maintain the naive pluripotent state of hematopoietic stem cell; mTOR-dependent cytoplasmic retention of TFE3 promotes the exit of hematopoietic stem cell from pluripotency. TFE3 activity is also involved in the inhibition of neuronal progenitor differentiation. Acts as a positive regulator of browning of adipose tissue by promoting expression of target genes; mTOR-dependent phosphorylation promotes cytoplasmic retention of TFE3 and inhibits browning of adipose tissue. In association with TFEB, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer. It also binds very well to a USF/MLTF site. Promotes TGF-beta-induced transcription of COL1A2; via its interaction with TSC22D1 at E-boxes in the gene proximal promoter. May regulate lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1.

Subunit / interactions. Homodimer and heterodimer; with TFEB or MITF. Interacts with RRAGC/RagC GDP-bound and RRAGD/RagD GDP-bound; promoting its recruitment to lysosomal membrane in the presence of nutrients. Interacts with TSC22D1; the interaction is enhanced in the presence of TGF-beta.

Subcellular location. Cytoplasm. Cytosol. Nucleus. Lysosome membrane.

Tissue specificity. Ubiquitous in fetal and adult tissues.

Post-translational modifications. Sumoylated; does not affect dimerization with MITF. Phosphorylation ar Ser-47 and Ser-321 by MTOR via non-canonical mTORC1 pathway regulates its stability and subcellular location, respectively. When nutrients are present, phosphorylation by MTOR at Ser-47 promotes ubiquitination by the SCF(BTRC) complex, followed by degradation. When nutrients are present, phosphorylation by MTOR at Ser-321 also promotes association with 14-3-3/YWHA adapters and retention in the cytosol. Phosphorylation at Ser-47 plays a more critical role than phosphorylation at Ser-321 for TFE3 inactivation. Inhibition of mTORC1, starvation and lysosomal disruption, promotes dephosphorylation and transcription factor activity. Ubiquitinated by the SCF(BTRC) and SCF(FBXW11) complexes following phosphorylation at Ser-47 by MTOR, leading to its degradation by the proteasome.

Disease relevance. Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MRXSPF) [MIM:301066] A disorder characterized by severe developmental delay with impaired intellectual development and poor speech, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females. The disease is caused by variants affecting the gene represented in this entry. A chromosomal aberration involving TFE3 is found in patients with alveolar soft part sarcoma. Translocation t(X;17)(p11;q25) with ASPSCR1 forms a ASPSCR1-TFE3 fusion protein. Renal cell carcinoma Xp11-associated (RCCX1) [MIM:300854] Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. RCCX1 histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed. Disease susceptibility is associated with variants affecting the gene represented in this entry. Chromosomal aberrations involving TFE3 are found in patients with papillary renal cell carcinoma. Translocation t(X;1)(p11.2;q21.2) with PRCC; translocation t(X;1)(p11.2;p34) with PSF; inversion inv(X)(p11.2;q12) that fuses NONO to TFE3.

Similarity. Belongs to the MiT/TFE family.

Isoforms (2)

UniProt ID	Names	Canonical?
P19532-1	1	yes
P19532-2	2

RefSeq proteins (2): NP_001269071, NP_006512* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011598	bHLH_dom	Domain
IPR021802	MiT/TFE_C	Domain
IPR024100	bHLHzip_TFE3	Domain
IPR031867	MiT/TFE_N	Domain
IPR036638	HLH_DNA-bd_sf	Homologous_superfamily

Pfam: PF00010, PF11851, PF15951

UniProt features (55 total): sequence variant 14, modified residue 9, sequence conflict 8, region of interest 6, mutagenesis site 4, compositionally biased region 3, site 3, splice variant 2, helix 2, chain 1, domain 1, cross-link 1, short sequence motif 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7F09	X-RAY DIFFRACTION	2.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P19532-F1	60.54	0.21

Functional residue map

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

Catalytic / active sites (3): 178–179 (breakpoint for translocation to form prcc-tfe3 oncogene); 260–261 (breakpoint for translocation to form aspscr1-tfe3 oncogene); 295–296 (breakpoint for translocation to form nono-tfe3, psf-tfe3 and aspscr1-tfe3 oncogenes)

Post-translational modifications (10): 47, 188, 321, 542, 548, 554, 556, 560, 568, 339

Mutagenesis-validated functional residues (4):

Position	Phenotype
47	impaired phosphorylation by mtor, leading to abolished ubiquitination and degradation by the scf(btrc) complex.
112–113	abolished interaction with interacts with small gtpases rag and recruitment to the lysosomal membrane.
321	accumulates in the nucleus due to impaired phosphorylation. does not affect ubiquitination by the scf(btrc) complex.
356–359	abolished localization to the nucleus.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-9856649	Transcriptional and post-translational regulation of MITF-M expression and activity
R-HSA-1266738	Developmental Biology
R-HSA-9730414	MITF-M-regulated melanocyte development

MSigDB gene sets: 374 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, CREL_01, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION, GOBP_VACUOLE_ORGANIZATION, GOCC_VACUOLAR_MEMBRANE, ENK_UV_RESPONSE_KERATINOCYTE_UP, SP3_Q3, GOBP_POSITIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_BROWN_FAT_CELL_DIFFERENTIATION, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, GCGCTTT_MIR518B_MIR518C_MIR518D, CEBPB_01, NFKB_Q6

GO Biological Process (12): adaptive immune response (GO:0002250), regulation of transcription by RNA polymerase II (GO:0006357), humoral immune response (GO:0006959), lysosome organization (GO:0007040), regulation of osteoclast differentiation (GO:0045670), positive regulation of cell adhesion (GO:0045785), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of brown fat cell differentiation (GO:0090336), negative regulation of cold-induced thermogenesis (GO:0120163), immune system process (GO:0002376), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (9): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), protein dimerization activity (GO:0046983), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (8): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), lysosomal membrane (GO:0005765), cytosol (GO:0005829), lysosome (GO:0005764), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
MITF-M-regulated melanocyte development	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
regulation of DNA-templated transcription	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
immune response	2
transcription by RNA polymerase II	2
DNA-templated transcription	2
regulation of transcription by RNA polymerase II	2
lytic vacuole organization	1
regulation of myeloid leukocyte differentiation	1
osteoclast differentiation	1
cell adhesion	1
regulation of cell adhesion	1
positive regulation of cellular process	1
positive regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
positive regulation of fat cell differentiation	1
brown fat cell differentiation	1
regulation of brown fat cell differentiation	1
negative regulation of multicellular organismal process	1
cold-induced thermogenesis	1
regulation of cold-induced thermogenesis	1
biological_process	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
protein binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
chromosome	1

Protein interactions and networks

STRING

2114 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TFE3	ASPSCR1	Q9BZE9	985
TFE3	PRCC	Q92733	964
TFE3	MITF	O75030	905
TFE3	SFPQ	P23246	873
TFE3	E2F3	O00716	839
TFE3	CTSK	P43235	810
TFE3	TBC1D25	Q3MII6	803
TFE3	CLTC	Q00610	758
TFE3	CAMTA1	Q9Y6Y1	714
TFE3	FLCN	Q8NFG4	712
TFE3	TYR	P14679	688
TFE3	AMACR	Q9UHK6	666
TFE3	YAP1	P46937	656
TFE3	NONO	P30807	645
TFE3	SYP	P08247	630

IntAct

88 interactions, top by confidence:

A	B	Type	Score
TFE3	LAMTOR3	psi-mi:“MI:0915”(physical association)	0.560
MITF	TFE3	psi-mi:“MI:0915”(physical association)	0.560
MITF	TFEB	psi-mi:“MI:0914”(association)	0.560
TFEB	MITF	psi-mi:“MI:0914”(association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
TFE3	IPO8	psi-mi:“MI:0915”(physical association)	0.400
TFE3	SUMO1	psi-mi:“MI:0915”(physical association)	0.400
Arrb2	TCOF1	psi-mi:“MI:0914”(association)	0.350
TFEB	PPM1G	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
TFEB	TFEC	psi-mi:“MI:0914”(association)	0.350
MITF	TFEB	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
BMI1	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAQ	FOXO6	psi-mi:“MI:0914”(association)	0.350
CREB3L2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
INSR	BLTP3B	psi-mi:“MI:0914”(association)	0.350
ATF3	ILVBL	psi-mi:“MI:0914”(association)	0.350
CEBPA	MYO1C	psi-mi:“MI:0914”(association)	0.350
ATF1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ATF2	ABLIM1	psi-mi:“MI:0914”(association)	0.350
ATF3	TMEM223	psi-mi:“MI:0914”(association)	0.350
CEBPD	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (76): TFE3 (Proximity Label-MS), TFE3 (Affinity Capture-MS), TFE3 (Affinity Capture-MS), TFE3 (Affinity Capture-MS), TFE3 (Affinity Capture-MS), TFE3 (Affinity Capture-MS), AKR1B1 (Affinity Capture-MS), CLTC (Affinity Capture-MS), PHB2 (Affinity Capture-MS), ACLY (Affinity Capture-MS), CUL2 (Affinity Capture-MS), EPRS (Affinity Capture-MS), PFAS (Affinity Capture-MS), VARS (Affinity Capture-MS), NEDD8 (Affinity Capture-MS)

ESM2 similar proteins: A5PK23, A6NKF2, A6PWV5, A7X8B9, A7X8C2, A7X8C4, A7X8C9, A7X8D2, A7X8D4, A7XW16, A7XW20, P09086, P19091, P19532, P42128, P51179, P55198, P84550, P84551, P85037, Q00196, Q05B92, Q06416, Q16254, Q29013, Q2KI85, Q2MJB4, Q2TAL5, Q3B8N7, Q3UHD9, Q5XGD9, Q5XI28, Q62431, Q62901, Q64092, Q6GQD7, Q7TN02, Q8BX46, Q8CGU4, Q8CI12

Diamond homologs: A0A286LEZ9, A2T713, A2T7L8, A4IFU7, O02818, O14948, O75030, O88368, P0DPB0, P17106, P19484, P19532, P22415, P49379, Q05B92, Q07957, Q08874, Q10186, Q5A1E3, Q5XFQ6, Q61069, Q63302, Q64092, Q6XBT4, Q9R210, Q9WTW4, H2KZZ2, P38165, O97676, A3KNA7, Q6GQ26, Q84LH8

SIGNOR signaling

28 interactions.

A	Effect	B	Mechanism
TFE3	“up-regulates quantity by expression”	MYH9	“transcriptional regulation”
CDK4	“up-regulates activity”	TFE3	phosphorylation
CDK6	“up-regulates activity”	TFE3	phosphorylation
TFE3	“up-regulates quantity by expression”	PIP4P1	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	ATG16L1	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	ATG9B	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	ATP6V0D1	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	ATP6V0D2	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	ATP6V1C1	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	CD63	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	CLCN3	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	CLCN7	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	CTSA	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	CTSD	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	CTSF	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	CTSS	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	FLCN	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	GAA	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	GABARAPL1	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	GBA	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	GLA	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	HEXA	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	LAMP1	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	MCOLN1	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	RRAGC	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	UVRAG	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	WIPI1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 89 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Transcriptional and post-translational regulation of MITF-M expression and activity	9	23.6×	6e-08
Hh mutants are degraded by ERAD	5	17.9×	7e-04
SPOP-mediated proteasomal degradation of PD-L1(CD274)	5	16.8×	9e-04
Defective CFTR causes cystic fibrosis	5	16.1×	9e-04
Hedgehog ligand biogenesis	5	15.6×	1e-03
MITF-M-regulated melanocyte development	9	15.1×	2e-06
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha	5	14.5×	1e-03
AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274)	5	14.2×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
DNA replication	6	12.2×	2e-03
proteasome-mediated ubiquitin-dependent protein catabolic process	8	5.2×	9e-03

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	10
Likely pathogenic	9
Uncertain significance	89
Likely benign	25
Benign	3

Top pathogenic / likely-pathogenic (19)

Variant ID	HGVS	Classification
1064791	NM_006521.6(TFE3):c.350G>A (p.Arg117Gln)	Pathogenic
1301857	NM_006521.6(TFE3):c.356A>C (p.Gln119Pro)	Pathogenic
1301858	NM_006521.6(TFE3):c.602A>C (p.Gln201Pro)	Pathogenic
1301861	NM_006521.6(TFE3):c.560C>G (p.Thr187Arg)	Pathogenic
1301863	NM_006521.6(TFE3):c.780+1G>A	Pathogenic
1320026	NM_006521.6(TFE3):c.559A>G (p.Thr187Ala)	Pathogenic
1702666	NM_006521.6(TFE3):c.349C>T (p.Arg117Trp)	Pathogenic
2444265	NM_006521.6(TFE3):c.560C>A (p.Thr187Lys)	Pathogenic
3338578	NM_006521.6(TFE3):c.572T>C (p.Leu191Pro)	Pathogenic
3340595	NM_006521.6(TFE3):c.338G>A (p.Arg113Lys)	Pathogenic
1320027	NM_006521.6(TFE3):c.569A>G (p.His190Arg)	Likely pathogenic
1710361	NM_006521.6(TFE3):c.556C>T (p.Pro186Ser)	Likely pathogenic
1711709	NM_006521.6(TFE3):c.554A>G (p.Asn185Ser)	Likely pathogenic
1804071	NM_006521.6(TFE3):c.374_379del (p.123AQ[1])	Likely pathogenic
2505508	NM_006521.6(TFE3):c.556C>A (p.Pro186Thr)	Likely pathogenic
4056438	NM_006521.6(TFE3):c.608T>C (p.Leu203Pro)	Likely pathogenic
4633007	NM_006521.6(TFE3):c.350_358del (p.Arg117_Gln119del)	Likely pathogenic
977615	NM_006521.6(TFE3):c.566A>G (p.Tyr189Cys)	Likely pathogenic
992855	NM_006521.6(TFE3):c.557C>T (p.Pro186Leu)	Likely pathogenic

SpliceAI

1277 predictions. Top by Δscore:

Variant	Effect	Δscore
X:49031393:AAAC:A	donor_loss	1.0000
X:49031395:AC:A	donor_loss	1.0000
X:49031396:CC:C	donor_loss	1.0000
X:49031541:CTCC:C	acceptor_gain	1.0000
X:49031542:TCC:T	acceptor_gain	1.0000
X:49031543:CC:C	acceptor_gain	1.0000
X:49031543:CCC:C	acceptor_gain	1.0000
X:49031544:CCTG:C	acceptor_gain	1.0000
X:49031545:C:CC	acceptor_gain	1.0000
X:49031546:T:A	acceptor_loss	1.0000
X:49031554:CCAAG:C	acceptor_gain	1.0000
X:49031555:C:CT	acceptor_gain	1.0000
X:49031555:C:T	acceptor_gain	1.0000
X:49031556:A:T	acceptor_gain	1.0000
X:49031558:G:C	acceptor_gain	1.0000
X:49031558:G:GC	acceptor_gain	1.0000
X:49033463:A:AC	donor_gain	1.0000
X:49033464:C:CC	donor_gain	1.0000
X:49033464:CGGGT:C	donor_gain	1.0000
X:49033543:T:TC	acceptor_gain	1.0000
X:49033724:A:AC	donor_gain	1.0000
X:49033725:C:CC	donor_gain	1.0000
X:49033728:A:AC	donor_gain	1.0000
X:49033729:G:C	donor_gain	1.0000
X:49033783:C:CC	acceptor_gain	1.0000
X:49038000:AGGG:A	donor_gain	1.0000
X:49038004:CCT:C	donor_loss	1.0000
X:49038006:TCA:T	donor_loss	1.0000
X:49038007:CAC:C	donor_loss	1.0000
X:49038008:A:AC	donor_gain	1.0000

AlphaMissense

3682 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:49030597:A:G	L430P	1.000
X:49031404:C:G	R426P	1.000
X:49031413:A:G	L423P	1.000
X:49031482:T:G	Q400P	1.000
X:49031485:A:G	L399P	1.000
X:49031491:C:G	R397P	1.000
X:49031494:A:C	I396S	1.000
X:49031494:A:G	I396T	1.000
X:49031494:A:T	I396N	1.000
X:49031498:A:C	Y395D	1.000
X:49031503:A:T	V393E	1.000
X:49031506:G:A	S392F	1.000
X:49031506:G:T	S392Y	1.000
X:49031507:A:G	S392P	1.000
X:49031510:C:G	A391P	1.000
X:49031511:C:A	K390N	1.000
X:49031511:C:G	K390N	1.000
X:49031513:T:C	K390E	1.000
X:49031515:A:C	L389R	1.000
X:49031515:A:G	L389P	1.000
X:49031515:A:T	L389Q	1.000
X:49031516:G:C	L389V	1.000
X:49031518:A:C	I388S	1.000
X:49031518:A:G	I388T	1.000
X:49031518:A:T	I388N	1.000
X:49031519:T:A	I388F	1.000
X:49031524:C:A	G386V	1.000
X:49031524:C:G	G386A	1.000
X:49031524:C:T	G386D	1.000
X:49031525:C:A	G386C	1.000

dbSNP variants (sampled 300 via entrez): RS1000946234 (X:49037653 C>T), RS1002431841 (X:49028971 T>C), RS1002846987 (X:49040741 C>T), RS1002878408 (X:49041177 T>C), RS1003909329 (X:49043171 G>A,T), RS1004095655 (X:49034318 C>T), RS1004963112 (X:49044958 G>T), RS1005292714 (X:49044603 C>T), RS1005954998 (X:49028357 G>A), RS1006108251 (X:49038959 C>A,T), RS1006545120 (X:49030735 T>C), RS1007027388 (X:49031055 A>G), RS1007083534 (X:49040247 G>A,T), RS1007116319 (X:49040666 C>A,G,T), RS1008081117 (X:49042156 G>C)

Disease associations

OMIM: gene MIM:314310 | disease phenotypes: MIM:301066, MIM:300854

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Definitive	X-linked
complex neurodevelopmental disorder	Moderate	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
X-linked syndromic complex neurodevelopmental disorder	Definitive	XL

Mondo (6): neurodevelopmental disorder (MONDO:0700092), intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MONDO:0859080), renal cell carcinoma, Xp11-associated (MONDO:0010456), intellectual disability (MONDO:0001071), renal cell carcinoma (MONDO:0005086), complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (2): Renal cell carcinoma (Orphanet:217071), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

64 total (30 of 64 shown, HPO-id order):

HPO	Term
HP:0000175	Cleft palate
HP:0000194	Open mouth
HP:0000232	Everted lower lip vermilion
HP:0000256	Macrocephaly
HP:0000272	Malar flattening
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000316	Hypertelorism
HP:0000358	Posteriorly rotated ears
HP:0000403	Recurrent otitis media
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000508	Ptosis
HP:0000545	Myopia
HP:0000646	Amblyopia
HP:0000664	Synophrys
HP:0000718	Aggressive behavior
HP:0000729	Autistic behavior
HP:0000733	Motor stereotypy
HP:0000736	Short attention span
HP:0000750	Delayed speech and language development
HP:0000826	Precocious puberty
HP:0000885	Broad ribs
HP:0000956	Acanthosis nigricans
HP:0001010	Hypopigmentation of the skin
HP:0001081	Cholelithiasis
HP:0001082	Cholecystitis
HP:0001182	Tapered finger
HP:0001230	Broad metacarpals

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D002292	Carcinoma, Renal Cell	C04.557.470.200.025.390; C04.588.945.947.535.160; C12.050.351.937.820.535.160; C12.050.351.968.419.473.160; C12.200.758.820.750.160; C12.200.777.419.473.160; C12.900.820.535.160; C12.950.419.473.160; C12.950.983.535.160
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295726 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects localization, decreases phosphorylation, decreases reaction, affects reaction, increases expression	3
Cyclosporine	increases expression	3
bisphenol A	affects expression, affects cotreatment, increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
Acetylcysteine	decreases expression, decreases reaction, affects localization, decreases phosphorylation	2
Valproic Acid	increases expression, increases methylation	2
Aflatoxin B1	affects methylation, decreases methylation	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
TAK-243	decreases sumoylation	1
dicrotophos	increases expression	1
chloroacetaldehyde	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
pyrimidin-2-one beta-ribofuranoside	increases expression	1
terbufos	increases methylation	1
beta-lapachone	increases expression	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
nickel sulfate	decreases expression	1
coumarin	decreases phosphorylation	1
leucyl-leucine-methyl ester	affects localization	1
N-acetylsphingosine	affects localization, decreases phosphorylation	1
cylindrospermopsin	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
ON 01910	affects expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4223726	Binding	Inhibition of LPS-induced TFE3 nuclear translocation in human THP1 cells at 50 to 100 uM preincubated for 1 hr followed by LPS stimulation measured after 12 hrs by Western blot method	Terpenoids isolated from Chinese liverworts Lepidozia reptans and their anti-inflammatory activity. — Bioorg Med Chem

Cellosaurus cell lines

20 cell lines: 16 cancer cell line, 3 embryonic stem cell, 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_6997	FU-UR-1	Cancer cell line	Male
CVCL_A7I4	SEES3-1V human TFE3, clone1	Embryonic stem cell	Male
CVCL_A7I5	SEES3-1V human TFE3, clone2	Embryonic stem cell	Male
CVCL_A7I6	SEES3-1V human TFE3, clone3	Embryonic stem cell	Male
CVCL_B087	UOK109	Cancer cell line	Male
CVCL_B099	UOK120	Cancer cell line	Male
CVCL_B105	UOK124	Cancer cell line	Female
CVCL_B122	UOK145	Cancer cell line	Female
CVCL_B123	UOK146	Cancer cell line	Female
CVCL_D6XS	GM28531	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development