BTF3

Summary

BTF3 (basic transcription factor 3, HGNC:1125) is a protein-coding gene on chromosome 5q13.2, encoding Transcription factor BTF3 (P20290). When associated with NACA, prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). It is a selective cancer dependency (DepMap: 69.9% of cell lines).

This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes.

Source: NCBI Gene 689 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 36 total — 1 likely-pathogenic
• GTEx eGene: eQTL in 32 tissues, sQTL in 0 (q < 0.05)
• Cancer dependency (DepMap): dependent in 69.9% of screened cell lines
• Constraint (gnomAD): pLI 0.01 (LoF-tolerant), LOEUF 0.93 (unconstrained)
• MANE Select transcript: NM_001037637
• Interaction hub: 2,892 STRING partners (top 3% of genes corpus-wide)

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1125
Approved symbol	BTF3
Name	basic transcription factor 3
Location	5q13.2
Locus type	gene with protein product
Status	Approved
Aliases	BTF3a, BTF3b
Ensembl gene	ENSG00000145741
Ensembl biotype	protein_coding
OMIM	602542
Entrez	689

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 9 protein_coding, 7 retained_intron, 5 nonsense_mediated_decay

MANE Select: ENST00000380591

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 3, TSL 5: 3

ENST00000380591, ENST00000335895, ENST00000507081, ENST00000508901, ENST00000509708, ENST00000510787, ENST00000512257, ENST00000514360, ENST00000514505, ENST00000676856, ENST00000676862, ENST00000677654, ENST00000678135, ENST00000679077, ENST00000991301, ENST00001079155, ENST00001079157, ENST00001079160, ENST00001102730, ENST00001102731, ENST00001135975

RefSeq mRNA: 4 — MANE Select: NM_001037637 NM_001037637, NM_001207, NM_001393652, NM_001393653

CCDS: CCDS34185, CCDS4019

Canonical transcript exons

ENST00000380591 — 6 exons

Exon	Start	End
ENSE00001182158	73498442	73498799
ENSE00001485570	73505192	73505667
ENSE00003520230	73502916	73503117
ENSE00003575504	73502488	73502601
ENSE00003758849	73499134	73499202
ENSE00003789657	73504347	73504403

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 709.5357 / max 11079.8979, expressed in 1827 samples.

Highest expression (Bgee): mucosa of sigmoid colon, mammary duct, penis, colonic mucosa, ovary.

Genetic regulation across tissues (GTEx eQTL / sQTL)

BTF3 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 32 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 32 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Muscle Skeletal	eqtl	4.3e-39	-0.49	5:73519514:G:C
Nerve Tibial	eqtl	6.8e-25	-0.32	5:73463797:C:T
Artery Tibial	eqtl	4.8e-20	-0.28	5:73438227:G:T
Skin Not Sun Exposed Suprapubic	eqtl	4.6e-19	-0.36	5:73456599:G:A
Adipose Visceral Omentum	eqtl	1.0e-17	-0.36	5:73438227:G:T
Colon Sigmoid	eqtl	1.2e-17	-0.50	5:73478501:C:T
Esophagus Gastroesophageal Junction	eqtl	4.9e-16	-0.36	5:73453609:C:T
Adipose Subcutaneous	eqtl	1.1e-15	-0.32	5:73483613:T:C
Skin Sun Exposed Lower leg	eqtl	1.2e-13	-0.26	5:73519514:G:C
Pancreas	eqtl	3.0e-12	-0.40	5:73482171:T:C
Thyroid	eqtl	5.9e-12	-0.27	5:73463797:C:T
Esophagus Muscularis	eqtl	3.4e-10	-0.24	5:73519514:G:C
Esophagus Mucosa	eqtl	6.1e-10	-0.21	5:73478501:C:T
Colon Transverse	eqtl	9.3e-09	-0.35	5:73482171:T:C
Heart Atrial Appendage	eqtl	1.4e-08	-0.29	5:73478501:C:T
Heart Left Ventricle	eqtl	5.2e-07	-0.24	5:73438227:G:T
Stomach	eqtl	1.2e-06	-0.32	5:73478501:C:T
Ovary	eqtl	1.2e-05	-0.42	5:73432947:A:T
Artery Aorta	eqtl	3.0e-05	-0.20	5:73463797:C:T
Breast Mammary Tissue	eqtl	4.6e-05	-0.22	5:73463797:C:T

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
57042	709.5357	1827

Top tissues by expression

showing 100 of 295 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of sigmoid colon	UBERON:0004993	99.76	gold quality
mammary duct	UBERON:0001765	99.74	gold quality
penis	UBERON:0000989	99.72	gold quality
colonic mucosa	UBERON:0000317	99.71	gold quality
left ovary	UBERON:0002119	99.70	gold quality
embryo	UBERON:0000922	99.69	gold quality
mammalian vulva	UBERON:0000997	99.69	gold quality
ganglionic eminence	UBERON:0004023	99.69	gold quality
oral cavity	UBERON:0000167	99.68	gold quality
ovary	UBERON:0000992	99.68	gold quality
trabecular bone tissue	UBERON:0002483	99.68	gold quality
epithelium of mammary gland	UBERON:0003244	99.67	gold quality
mammary gland	UBERON:0001911	99.66	gold quality
thoracic mammary gland	UBERON:0005200	99.66	gold quality
endometrium	UBERON:0001295	99.65	gold quality
right ovary	UBERON:0002118	99.65	gold quality
cartilage tissue	UBERON:0002418	99.65	gold quality
upper leg skin	UBERON:0004262	99.65	gold quality
zone of skin	UBERON:0000014	99.64	gold quality
skin of abdomen	UBERON:0001416	99.64	gold quality
cauda epididymis	UBERON:0004360	99.64	gold quality
seminal vesicle	UBERON:0000998	99.63	gold quality
skin of leg	UBERON:0001511	99.63	gold quality
caput epididymis	UBERON:0004358	99.63	gold quality
cortical plate	UBERON:0005343	99.63	gold quality
pharyngeal mucosa	UBERON:0000355	99.62	gold quality
jejunal mucosa	UBERON:0000399	99.62	gold quality
skin of hip	UBERON:0001554	99.62	gold quality
superficial temporal artery	UBERON:0001614	99.62	gold quality
adult organism	UBERON:0007023	99.62	gold quality
endocervix	UBERON:0000458	99.61	gold quality
ventricular zone	UBERON:0003053	99.61	gold quality
body of uterus	UBERON:0009853	99.61	gold quality
uterus	UBERON:0000995	99.60	gold quality
sigmoid colon	UBERON:0001159	99.60	gold quality
germinal epithelium of ovary	UBERON:0001304	99.60	gold quality
esophagus squamous epithelium	UBERON:0006920	99.60	gold quality
monocyte	CL:0000576	99.59	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	99.59	gold quality
mucosa of stomach	UBERON:0001199	99.59	gold quality
urinary bladder	UBERON:0001255	99.59	gold quality
gluteal muscle	UBERON:0002000	99.59	gold quality
ectocervix	UBERON:0012249	99.59	gold quality
leukocyte	CL:0000738	99.58	gold quality
mononuclear cell	CL:0000842	99.58	gold quality
urethra	UBERON:0000057	99.58	gold quality
female reproductive system	UBERON:0000474	99.58	gold quality
epithelium of esophagus	UBERON:0001976	99.58	gold quality
biceps brachii	UBERON:0001507	99.57	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.57	gold quality
uterine cervix	UBERON:0000002	99.56	gold quality
lymph node	UBERON:0000029	99.56	gold quality
nasal cavity mucosa	UBERON:0001826	99.56	gold quality
popliteal artery	UBERON:0002250	99.56	gold quality
corpus epididymis	UBERON:0004359	99.56	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.56	gold quality
cervix squamous epithelium	UBERON:0006922	99.56	gold quality
tibial artery	UBERON:0007610	99.56	gold quality
lower esophagus	UBERON:0013473	99.56	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.56	gold quality
vagina	UBERON:0000996	99.55	gold quality
esophagus	UBERON:0001043	99.55	gold quality
smooth muscle tissue	UBERON:0001135	99.55	gold quality
left uterine tube	UBERON:0001303	99.55	gold quality
palpebral conjunctiva	UBERON:0001812	99.55	gold quality
esophagus mucosa	UBERON:0002469	99.55	gold quality
upper arm skin	UBERON:0004263	99.55	gold quality
rectum	UBERON:0001052	99.54	gold quality
tibialis anterior	UBERON:0001385	99.54	gold quality
right lung	UBERON:0002167	99.54	gold quality
descending thoracic aorta	UBERON:0002345	99.54	gold quality
tonsil	UBERON:0002372	99.54	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.54	gold quality
granulocyte	CL:0000094	99.53	gold quality
body of pancreas	UBERON:0001150	99.53	gold quality
peritoneum	UBERON:0002358	99.53	gold quality
adipose tissue of abdominal region	UBERON:0007808	99.53	gold quality
omental fat pad	UBERON:0010414	99.53	gold quality
bronchial epithelial cell	CL:0002328	99.52	gold quality
large intestine	UBERON:0000059	99.52	gold quality
aorta	UBERON:0000947	99.52	gold quality
left lobe of thyroid gland	UBERON:0001120	99.52	gold quality
colon	UBERON:0001155	99.52	gold quality
body of stomach	UBERON:0001161	99.52	gold quality
myometrium	UBERON:0001296	99.52	gold quality
deltoid	UBERON:0001476	99.52	gold quality
thyroid gland	UBERON:0002046	99.52	gold quality
jejunum	UBERON:0002115	99.52	gold quality
subcutaneous adipose tissue	UBERON:0002190	99.52	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.52	gold quality
squamous epithelium	UBERON:0006914	99.52	gold quality
intestine	UBERON:0000160	99.51	gold quality
left coronary artery	UBERON:0001626	99.51	gold quality
gall bladder	UBERON:0002110	99.51	gold quality
synovial joint	UBERON:0002217	99.51	gold quality
prostate gland	UBERON:0002367	99.51	gold quality
pericardium	UBERON:0002407	99.51	gold quality
mucosa of paranasal sinus	UBERON:0005030	99.51	gold quality
stromal cell of endometrium	CL:0002255	99.50	gold quality
adipose tissue	UBERON:0001013	99.50	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	37.11
E-CURD-88	yes	32.29
E-MTAB-10042	yes	14.28
E-GEOD-130148	yes	7.76
E-CURD-112	yes	5.34
E-CURD-98	no	2496.40
E-HCAD-1	no	2383.04
E-CURD-79	no	2077.58
E-MTAB-8207	no	1460.42
E-HCAD-4	no	103.42
E-CURD-114	no	62.75
E-HCAD-10	no	34.51
E-GEOD-125970	no	18.16
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 74 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Ovary	tissue	1059.7	low
Bone marrow	tissue	811.7	medium
Breast	tissue	713.5	high
Tonsil	tissue	710.3	high
Skeletal muscle	tissue	628.3	medium
Vagina	tissue	608.5	high
Lymph node	tissue	602.2	medium
Thymus	tissue	586.3
Urinary bladder	tissue	583.2	high
Skin 1	tissue	581.4	high
Esophagus	tissue	562.9	high
Tongue	tissue	560.1
Rectum	tissue	506.7	high
Fallopian tube	tissue	499.7	high
Cerebellum	tissue	498.5	medium
Liver	tissue	487.9	high
Endometrium 1	tissue	483.6	high
Salivary gland	tissue	468.3	high
Heart muscle	tissue	444.4	medium
Corpus callosum	tissue	439.5
Colon	tissue	434.8	high
Duodenum	tissue	433.1	high
Cervix	tissue	432.6	medium
Smooth muscle	tissue	428.6	high
Pancreas	tissue	427.7	medium
Small intestine	tissue	420.4	high
Thyroid gland	tissue	411.7	medium
Adrenal gland	tissue	409.3	high
Placenta	tissue	403.1	medium
Epididymis	tissue	398.2	medium
Pons	tissue	397.9
Adipose tissue	tissue	394.3	low
Parathyroid gland	tissue	377.6	high
Stomach 1	tissue	376.4	medium
Kidney	tissue	369.9	high
Seminal vesicle	tissue	367.8	high
Gallbladder	tissue	352.7	high
Appendix	tissue	352.3	high
Basal ganglia	tissue	347.0	high
Septum	tissue	347.0
Spleen	tissue	344.4	medium
Prostate	tissue	342.3	low
Hypothalamus	tissue	336.4
Midbrain	tissue	332.6
Olfactory bulb	tissue	332.6
Hippocampal formation	tissue	320.1
Thalamus	tissue	316.7
Cerebral cortex	tissue	311.5	high
Somatosensory cortex	tissue	311.5
Caudate putamen	tissue	297.1
Lung	tissue	291.8	medium
Ventral forebrain	tissue	288.6
Occipital cortex	tissue	287.5
Amygdala	tissue	284.3
Entorhinal cortex	tissue	281.7
Frontal cortex	tissue	281.4
Pituitary gland	tissue	276.0
Retrosplenial and cingulate cortex	tissue	270.1
Medulla oblongata	tissue	190.6
Spinal cord	tissue	188.8

Brain sub-regions (HPA Brain Atlas): detected in 288; highest nTPM — Blood vessel (687.7), White matter (439.5), Cerebellar white matter (210.7), Lateral funiculus (white matter) (202.6), Supraoptic nucleus (199.9).

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

9 targets:

Target	Regulation
ABL2	Activation
ATM	Activation
EPHB2	Activation
HPSE2	Activation
IRAG1	Repression
MADCAM1	Repression
NFKB1	Repression
RRAS2	Repression
SSPN	Repression

miRNA regulators (miRDB)

Targeting BTF3 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 35 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-892A	99.54	68.16	1141
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-3606-3P	99.11	69.84	3254
HSA-MIR-361-5P	98.95	70.16	1340
HSA-MIR-374A-3P	98.87	67.82	1531
HSA-MIR-219A-2-3P	98.62	68.78	797
HSA-MIR-4274	98.59	66.10	630
HSA-MIR-4511	98.32	67.97	1500
HSA-MIR-4659A-5P	98.03	66.42	819
HSA-MIR-4659B-5P	98.03	66.84	979
HSA-MIR-6529-5P	97.85	66.47	673

Functional genomics

gnomAD constraint: pLI 0.00696, LOEUF 0.925, missense Z 0.72 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000380591 splits into 2 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
5:73,498,668–73,499,188	116 / 84.7	1.37	no
5:73,499,189–73,505,235	99 / 171.2	0.58	no
DepMap (CRISPR cell-line fitness): dependent in 69.9% of screened cell lines.

Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): COR-L105 (-1.317), ST486 (-1.268), K029AX (-1.261), JL-1 (-1.257), TM-87 (-1.227), G-401 (-1.195), KNS-81 (-1.178), JVM-3 (-1.172), NMC-G1 (-1.169), J82 (-1.168), KMS-34 (-1.165), DK-MG (-1.162), TCC-PAN2 (-1.137), NOMO-1 (-1.131), U-118 MG (-1.106).

Literature-anchored findings (GeneRIF, showing 19)

• BTF3 is overexpressed in pancreatic ductal adenocarcinoma , where it acts as a transcriptional regulator rather than a direct modulator of apoptosis. (PMID:17312387)
• BTF3 interacts with ERalpha that has been activated either by 17beta-estradiol (ligand-dependent activation) or by epidermal growth factor (ligand-independent activation). (PMID:18025262)
• In addition to RNA polymerase II (otherwise RNA pol II, RNA polymerase B), four general transcription factors are required for initiation of transcription: BTF1 (also referred to as TFIID) which has recently been cloned from yeast, BTF2, BTF3 and STF. (PMID:2320128)
• may have a functional role in protecting against caries (PMID:23363935)
• BTF3 overexpression may be an early event in colorectal cancer development and could be useful biomarker for the early stage of colorectal cancers (CRC); BTF3 has positive correlations with NF-kappaB, RAD50, MRE11, NBS1 and AEG-1 and might influence complex signal pathways in CRC (PMID:23532689)
• BTF3 expression is associated with enhanced cell proliferation, reduced cell cycle regulation and apoptosis and its silencing decreased colony forming and proliferation of gastric cancer cells. (PMID:23901224)
• BTF3, HINT1, NDRG1 and ODC1 protein over-expression in human prostate cancer tissue (PMID:24386364)
• Findings provide a novel understanding of the mechanism of gastric cancer and highlight the important role of BTF3/FOXM1 in tumor growth and BTF3/JAK2/STAT3 in EMT and metastasis (PMID:28276310)
• TCGA analysis reveals high expression levels of BTF3 in luminal/ER + breast cancer and cell line models harboring ERalpha overexpression. Concordantly, BTF3 expression is highly and strongly associated with ESR1 expression in multiple breast cancer cohorts. (PMID:30315845)
• Study showed that BTF3 is overexpressed in prostate cancer (PCa) tissues and correlates with stem-like traits. Cancer stem-like characteristics in PCa including self-renewal and metastatic potential were impaired by BTF3 loss. BTF3 could stabilize BMI1, a crucial regulator of prostate stem cell self-renewal. More importantly, data revealed that BTF3 is highly predictive of poor prognosis. (PMID:31138311)
• BTF3 is positively related to CRC and BTF3-siRNA attenuated the tumorigenicity of colorectal cancer cells via MAD2L2, MCM3 and PLK1 activity reduction. (PMID:31263147)
• Expression of BTF3 is upregulated in hypopharyngeal squamous cell carcinoma and this upregulation is positively correlated with lymph node metastasis of this malignancy. (PMID:31404775)
• miR802 inhibits the epithelialmesenchymal transition, migration and invasion of cervical cancer by regulating BTF3. (PMID:32582971)
• BTF3 promotes stemness and inhibits TypeInterferon signaling pathway in triple-negative breast cancer. (PMID:33383560)
• BTF3 confers oncogenic activity in prostate cancer through transcriptional upregulation of Replication Factor C. (PMID:33414468)
• BTF3-mediated regulation of BMI1 promotes colorectal cancer through influencing epithelial-mesenchymal transition and stem cell-like traits. (PMID:34293363)
• BTF3 promotes proliferation and glycolysis in hepatocellular carcinoma by regulating GLUT1. (PMID:37382415)
• Ubiquitination-specific protease 7 enhances stemness of hepatocellular carcinoma by stabilizing basic transcription factor 3. (PMID:38340226)
• METTL3-driven m6A modification of lncRNA FAM230B suppresses ferroptosis by modulating miR-27a-5p/BTF3 axis in gastric cancer. (PMID:39278369)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	btf3	ENSDARG00000035400
rattus_norvegicus	Btf3	ENSRNOG00000016912
caenorhabditis_elegans		WBGENE00002045

Paralogs (3): TAB2 (ENSG00000055208), BTF3L4 (ENSG00000134717), TAB3 (ENSG00000157625)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1202875) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 13 distinct phenotype terms.

Mouse phenotype (MP)	Records
decreased hematocrit	1
decreased leukocyte cell number	1
enlarged lymph nodes	1
abnormal eye morphology	1
decreased mean corpuscular volume	1
decreased lymphocyte cell number	1
decreased mean corpuscular hemoglobin	1
increased mean corpuscular hemoglobin concentration	1
empty decidua capsularis	1
embryonic lethality between implantation and somite formation, complete penetrance	1
preweaning lethality, complete penetrance	1
enlarged urinary bladder	1
embryonic lethality prior to organogenesis	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Saccharomyces cerevisiae YJM789	A6ZWL1	100.0%	Diamond
Cryptococcus deneoformans JEC21	P0CP08	100.0%	Diamond
Cryptococcus deneoformans B-3501A	P0CP09	100.0%	Diamond
Saccharomyces cerevisiae S288C	Q02642	100.0%	Diamond
Xenopus laevis	Q4KLF5	100.0%	Diamond
Xenopus tropicalis	Q5M8V0	100.0%	Diamond
Pongo abelii	Q5RC59	100.0%	Diamond
Mus musculus	Q9CQH7	100.0%	Diamond
Botrytis cinerea B05.10	A6S6B0	98.7%	Diamond
Sclerotinia sclerotiorum 1980 UF-70	A7F9B8	98.7%	Diamond
Bos taurus	Q2KIY7	98.7%	Diamond
Gallus gallus	Q5ZJG3	98.7%	Diamond
Aspergillus oryzae RIB40	Q2U6N1	97.2%	Diamond
Aspergillus fumigatus Af293	Q4WCX4	97.1%	Diamond
Aspergillus fischeri NRRL 181	A1DL98	95.7%	Diamond
Aspergillus clavatus NRRL 1	A1CMP1	95.2%	Diamond
Aspergillus niger CBS 513.88	A2R091	93.9%	Diamond
Aspergillus terreus NIH2624	Q0CGL5	93.7%	Diamond
Coccidioides immitis RS	Q1DI23	91.9%	Diamond
Chaetomium globosum CBS 148.51	Q2H4X9	89.8%	Diamond
Fusarium graminearum PH-1	Q4I283	89.8%	Diamond
Neurospora crassa OR74A	Q7SDU4	88.2%	Diamond
Histoplasma mississippiense	A6R5Z3	88.0%	Diamond
Lodderomyces elongisporus NRRL YB-4239	A5DT59	87.3%	Diamond
Candida albicans SC5314	Q59TU0	87.3%	Diamond
Aspergillus nidulans FGSC A4	Q5ASI4	87.3%	Diamond
Arabidopsis thaliana	Q9CAT7	87.3%	Diamond
Parastagonospora nodorum SN15	Q0ULD0	85.5%	Diamond
Scheffersomyces stipitis CBS 6054	A3GHR2	84.5%	Diamond
Debaryomyces hansenii CBS767	Q6BLV1	84.5%	Diamond
Nakaseomyces glabratus CBS 138	Q6FKD1	82.8%	Diamond
Pyricularia oryzae 70-15	A4RC23	81.9%	Diamond
Meyerozyma guilliermondii ATCC 6260	A5DF06	81.2%	Diamond
Kluyveromyces lactis NRRL Y-1140	Q6CR46	75.9%	Diamond
Eremothecium gossypii ATCC 10895	Q751F1	75.9%	Diamond
Mycosarcoma maydis	Q4P9Y9	71.5%	Diamond
Schizosaccharomyces pombe 972h-	Q92371	62.6%	Diamond
Yarrowia lipolytica CLIB122	Q6C2F3	51.4%	Diamond
Dictyostelium discoideum	Q54TR8	46.6%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
BTF3-DT	ncRNA	118568828
FOXD1	protein-coding	2297
LINC01386	ncRNA	104355294
ANKRA2	protein-coding	57763
ARHGEF28-AS1	ncRNA	107986423
ARHGEF28	protein-coding	64283
UTP15	protein-coding	84135

Protein

Protein identifiers

Transcription factor BTF3 — P20290 (reviewed: P20290)

Alternative names: Nascent polypeptide-associated complex subunit beta, RNA polymerase B transcription factor 3

All UniProt accessions (6): A0A7I2V3T6, A0A7I2V5Y3, A0A7I2YQL2, D6RDG3, P20290, H0Y9Y1

UniProt curated annotations — full annotation on UniProt →

Function. When associated with NACA, prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. BTF3 is also a general transcription factor that can form a stable complex with RNA polymerase II. Required for the initiation of transcription.

Subunit / interactions. Part of the nascent polypeptide-associated complex (NAC), which is a heterodimer of NACA and BTF3 (via NAC-A/B domains). NAC associates with ribosomes through the BTF3/NACB subunit. Both subunits can contact nascent polypeptide chains.

Subcellular location. Cytoplasm. Nucleus.

Similarity. Belongs to the NAC-beta family.

Isoforms (2)

UniProt ID	Names	Canonical?
P20290-1	1, BTF3a	yes
P20290-2	2, BTF3b

RefSeq proteins (4): NP_001032726, NP_001198, NP_001380581, NP_001380582 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002715	Nas_poly-pep-assoc_cplx_dom	Domain
IPR038187	NAC_A/B_dom_sf	Homologous_superfamily
IPR039370	BTF3	Family

Pfam: PF01849

UniProt features (29 total): modified residue 6, helix 6, strand 6, sequence conflict 4, region of interest 2, chain 1, domain 1, splice variant 1, turn 1, compositionally biased region 1

Structure

Experimental structures (PDB)

showing 30 of 56 structures by resolution:

PDB	Title	Method	Resolution (Å)
3MCB	Crystal structure of NAC domains of human nascent polypeptide-associated complex (NAC)	X-RAY DIFFRACTION	1.9
9I2D	NMT1-NAC bound human RNC with 10 amino acid ARF1-linker	ELECTRON MICROSCOPY	2.19
9PBE	In situ human 80S ribosome (composite map)	ELECTRON MICROSCOPY	2.19
9S3D	NAC bound human RNC with 58 amino acid ARF1-linker	ELECTRON MICROSCOPY	2.32
9S3B	NMT1-NAC bound human RNC with 58 amino acid ARF1-linker - State 1	ELECTRON MICROSCOPY	2.38
9PKD	In situ CHX and HHT treated 80S consensus ribosome	ELECTRON MICROSCOPY	2.42
9S3C	NMT1-NAC bound human RNC with 58 amino acid ARF1-linker - State 2	ELECTRON MICROSCOPY	2.42
9QLO	NMT1-NAC bound human RNC with full length ARF1 - State 1	ELECTRON MICROSCOPY	2.47
9P8B	In situ human eEF1A-A/T-P-E state 80S ribosome	ELECTRON MICROSCOPY	2.48
3LKX	Human nac dimerization domain	X-RAY DIFFRACTION	2.5
9P7D	In situ human Hibernating class4 80S ribosome	ELECTRON MICROSCOPY	2.57
9QLQ	NMT1-NAC bound human RNC with full length ARF1 - alternative State	ELECTRON MICROSCOPY	2.57
9P7E	In situ human Hibernating class5 80S ribosome	ELECTRON MICROSCOPY	2.59
9MR4	NAC: Ribosome nascent chain complex(Oxa1L)	ELECTRON MICROSCOPY	2.65
9P7O	In situ human AT-P-Z state ribosome	ELECTRON MICROSCOPY	2.65
9P73	In situ human eEF2-A/P-P/E state 80S ribosome	ELECTRON MICROSCOPY	2.66
9PA7	In situ human 80S consensus ribosome with EBP1	ELECTRON MICROSCOPY	2.67
28LN	XBP1u-stalled RPL4 RNC in complex with NAC	ELECTRON MICROSCOPY	2.7
9RG7	In vitro reconstituted NAA40-NAC bound 80S	ELECTRON MICROSCOPY	2.72
9P7Y	In situ human A-P-E state 80S ribosome	ELECTRON MICROSCOPY	2.75
9QLP	NMT1-NAC bound human RNC with full length ARF1 - State 2	ELECTRON MICROSCOPY	2.75
9P9I	In situ human unrotated hibernating without CCDC124 state 80S ribosome	ELECTRON MICROSCOPY	2.77
9P7C	In situ human Hibernating class3 80S ribosome	ELECTRON MICROSCOPY	2.78
9P72	In situ human P-E state 80S ribosome	ELECTRON MICROSCOPY	2.8
9P7K	In situ human post eEF1A-A/T-P-E state 80S ribosome	ELECTRON MICROSCOPY	2.8
9QQA	Ternary complex of translating ribosome, NAC and NMT1	ELECTRON MICROSCOPY	2.8
9P7A	In situ human hibernating class2 80S ribosome	ELECTRON MICROSCOPY	2.81
9NDP	Structure of stalled ribosome and nascent chain in complex with NMT2 and NAC	ELECTRON MICROSCOPY	2.82
7QWQ	Ternary complex of ribosome nascent chain with SRP and NAC	ELECTRON MICROSCOPY	2.83
9P76	In situ human eEF1A-A/T-P state 80S ribosome	ELECTRON MICROSCOPY	2.83

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P20290-F1	73.08	0.28

Human Protein Atlas

Protein class: Predicted intracellular proteins, Plasma proteins, Essential proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol

Antibody reliability (HPA): IH approved · IF supported

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 (6)

Type	Positions
Phosphoserine	173, 30
Omega-n-methylarginine	19
N6-methyllysine	46, 54
Phosphothreonine	160

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 1; 1 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

1 pathways:

ID	Pathway	Evidence
R-HSA-9918487	Dengue Virus Genome Translation and Replication ⚕	curated

MSigDB gene sets: 216 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, WANG_CLIM2_TARGETS_UP, MODULE_151, ENK_UV_RESPONSE_KERATINOCYTE_UP, MORF_UBE2I, MORF_HDAC1, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, ACTGCAG_MIR173P, YY1_Q6, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, PUJANA_CHEK2_PCC_NETWORK, GOBP_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, MORF_SKP1A, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, MORF_CCNI

GO Biological Process (3): DNA-templated transcription (GO:0006351), protein transport (GO:0015031), negative regulation of protein localization to endoplasmic reticulum (GO:1905551)

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), nascent polypeptide-associated complex (GO:0005854)

Reactome top-level categories

1 top-level categories:

Category	Pathways
Dengue Virus Infection	1

GO top-level categories

15 GO namespaces:

Category	Terms
cellular anatomical structure	2
cytoplasm	2
gene expression	1
RNA biosynthetic process	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
protein localization to endoplasmic reticulum	1
negative regulation of protein localization	1
regulation of protein localization to endoplasmic reticulum	1
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
protein-containing complex	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 4 of 9 annotations. The rest are phylogenetic / computational / electronic (IEA).

4 experimentally-supported GO terms:

GO term	NS	Evidence
negative regulation of protein localization to endoplasmic reticulum	BP	direct assay
cytoplasm	CC	direct assay
cytosol	CC	direct assay
RNA binding	MF	high-throughput assay

Protein interactions and networks

STRING

showing 15 of 2,892 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BTF3	CLN5	O75503	790
BTF3	A0A3B3ITS8	A0A3B3ITS8	579
BTF3	MICALL2	Q8IY33	459
BTF3	DNAJC2	Q99543	427
BTF3	FOXK1	P85037	424
BTF3	TAF15	Q92804	423
BTF3	CARHSP1	Q9Y2V2	401
BTF3	RPSA	P08865	385
BTF3	SUMO1	P55856	378
BTF3	MYOM2	P54296	370
BTF3	PEX6	Q13608	370
BTF3	PEX12	O00623	370
BTF3	TNF	P01375	370
BTF3	FANCM	Q8IYD8	369
BTF3	CTSB	P07858	369

IntAct

Human interaction partners of BTF3 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

15 partners by confidence:

Partner	Interaction type	MIscore	Records
TXLNA	physical association	0.670	3
TXLNB	physical association	0.560	3
IFTAP	physical association	0.510	4
ATG9A	association	0.350	1
HSPA8	association	0.350	1
NACAD	association	0.350	1
VPS37C	association	0.350	1
ARF6	physical association	0.000	1
EIF6	physical association	0.000	1
HLA-B	physical association	0.000	1
IKBKE	physical association	0.000	1
PAK2	physical association	0.000	1
PINX1	physical association	0.000	1
TRAF6	physical association	0.000	1
VHL	physical association	0.000	1

BioGRID (923 interactions; top human partners by supporting records in a sample of 600 records): NACA (Reconstituted Complex; 8 records), RPL10 (Affinity Capture-MS; 3 records), ANK3 (Proximity Label-MS; 2 records), BTF3L4 (Co-fractionation; 2 records), CAPZB (Positive Genetic; 2 records), CDC42 (Reconstituted Complex; 2 records), CORO6 (Affinity Capture-MS; 2 records), CSNK2B (Two-hybrid; 2 records), CTNNB1 (Affinity Capture-MS; 2 records), ERH (Positive Genetic; 2 records), IFI16 (Affinity Capture-MS; 2 records), MATR3 (Co-fractionation; 2 records), NAA40 (Two-hybrid; 2 records), NACA2 (Co-fractionation; 2 records), PCM1 (Proximity Label-MS; 2 records)

SIGNOR signaling

10 signaling interactions:

A	Effect	B	Mechanism
BTF3	“up-regulates quantity by expression”	HPSE2	“transcriptional regulation”
BTF3	“down-regulates quantity by repression”	RRAS2	“transcriptional regulation”
BTF3	“down-regulates quantity by repression”	MADCAM1	“transcriptional regulation”
BTF3	“down-regulates quantity by repression”	IRAG1	“transcriptional regulation”
BTF3	“up-regulates quantity by expression”	ABL2	“transcriptional regulation”
BTF3	“up-regulates quantity by expression”	ATM	“transcriptional regulation”
BTF3	“up-regulates quantity by expression”	EPHB2	“transcriptional regulation”
BTF3	“down-regulates quantity by repression”	NFKB1	“transcriptional regulation”
BTF3	“down-regulates quantity by repression”	SSPN	“transcriptional regulation”
IFTAP	“down-regulates activity”	BTF3	binding

Protein complexes (CORUM) (1)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

1 complexes by size:

Complex	Subunits	Members
NACA-BTF3 complex	2	NACA, BTF3

Disease & clinical

Genetic variants

Variant evidence for BTF3: 36 ClinVar records (1 pathogenic / likely pathogenic); 2 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	14
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	Likely pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore BTF3’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 27 predictions of 421):

Position(s)	Effect	Δscore	Sites
5:73499200	donor_gain	1.0000
5:73502486–73502487	acceptor_loss	1.0000	6
5:73502914–73502915	acceptor_loss	1.0000	2
5:73503118	donor_loss	1.0000
5:73504344	acceptor_gain	1.0000
5:73504346	acceptor_loss	1.0000
5:73504404–73504405	donor_loss	1.0000	5
5:73499132–73499133	acceptor_loss	0.9900	4
5:73499203–73499204	donor_loss	0.9900	5
5:73499291	acceptor_gain	0.9900

AlphaMissense

869 missense substitutions predicted likely pathogenic (of 1,335 scored), across 154 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M108	9	0.945	1.000
M146	9	0.914	0.999
M50	9	0.883	0.990
F118	8	0.998	1.000
D84	8	0.996	1.000
F197	8	0.996	1.000
H117	8	0.995	1.000
H78	8	0.994	1.000
F109	8	0.994	1.000
D85	8	0.992	1.000
N107	8	0.988	1.000
F132	8	0.988	1.000
D198	8	0.978	0.998
N130	8	0.967	0.999
S158	8	0.944	0.999
N196	8	0.939	0.998
H137	8	0.931	0.996
D157	8	0.925	0.997
F90	8	0.903	0.987
N51	8	0.889	0.976

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

7 prognostic cancer types:

Cancer	Prognostic	p-value
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	5.43e-06
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	0.000125
Liver Hepatocellular Carcinoma (validation)	favorable	0.000199
Liver Hepatocellular Carcinoma (validation)	unfavorable	0.00026
Kidney Chromophobe (TCGA)	unfavorable	0.000498
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	0.000533
Liver Hepatocellular Carcinoma (TCGA)	favorable	0.000924

Disease associations

OMIM: gene MIM:602542 | disease phenotypes:

GWAS associations

2 associations:

Study	Trait	p-value
GCST003476_4	Eyebrow thickness	3e-7
GCST003477_4	Monobrow thickness	4e-7

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066943 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

1 measured of 1 human assays (1 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
CHEMBL5653589	KD	1440 nM

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.62	Kd	237.6	nM	CHEMBL5653589
6.62	ED50	237.6	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147962: Binding affinity to human BTF3 incubated for 45 mins by Kinobead based pull down assay	kd	0.2376	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
arsenite	affects binding, increases reaction, decreases expression, increases abundance	2
sodium arsenite	decreases expression, increases abundance	2
Tretinoin	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
bisphenol A	decreases expression	1
geraniol	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
quinoline	decreases expression	1
diallyl trisulfide	increases expression	1
epigallocatechin gallate	increases expression, affects cotreatment	1
tamibarotene	affects expression	1
antimonite	decreases expression, increases abundance	1
chloropicrin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Antimony Potassium Tartrate	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases expression	1
Cadmium	decreases expression	1
Caffeine	decreases phosphorylation	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651004	Binding	Binding affinity to human BTF3 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — *ChemMedChem*

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 204 trials:

NCT	Phase	Status	Title
NCT05657860	Phase 4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	Phase 4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	Phase 4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	Phase 4	RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	Phase 3	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
NCT02304302	Phase 2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	Phase 2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	Phase 2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	Phase 2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	Phase 1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	Phase 1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	Phase 1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	Phase 1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	Phase 1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	Phase 2/3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	Phase 1/2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	Early Phase 1	TERMINATED	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders
NCT02862808	Not specified	COMPLETED	Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
NCT02881333	Not specified	UNKNOWN	Various Type of Genetic Events in Patients With Intellectual Disability
NCT02889068	Not specified	COMPLETED	Targeted Next Generation Sequencing and Intellectual Disability
NCT02914951	Not specified	ENROLLING_BY_INVITATION	Cognitive-Behavioral Therapy for Irritability in Children With Autism Spectrum Disorder and Intellectual Disability
NCT02919826	Not specified	COMPLETED	Dialectical Behaviour Group Therapy for Adults With Intellectual Disabilities
NCT02934854	Not specified	WITHDRAWN	Biomarker for Creatine Deficiency Syndromes (BioCDS)
NCT03033797	Not specified	UNKNOWN	Augmentative and Alternative Communication in Games With Virtual Reality in Intellectual Disabilities
NCT03135236	Not specified	COMPLETED	Parents as the Primary Sexuality Educators for Their Young Adults With Down Syndrome
NCT03139760	Not specified	COMPLETED	POWERSforID: A Telehealth Weight Management System for Adults With Intellectual Disability
NCT03203226	Not specified	COMPLETED	The Feldenkrais Method for People With Intellectual Disability
NCT03212092	Not specified	COMPLETED	Reducing Aggression Among People With an Intellectual Disability
NCT03218462	Not specified	COMPLETED	Effect of Sensory Adapted Dental Environment on Dental Anxiety of Children With Intellectual and Developmental Disabilities
NCT03234231	Not specified	UNKNOWN	Supervised Brushing Programme for Intellectual Disabled Students
NCT03348124	Not specified	UNKNOWN	Prevention Among Young People With Intellectual Disability
NCT03424772	Not specified	UNKNOWN	Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
NCT03426059	Not specified	COMPLETED	Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
NCT03492060	Not specified	RECRUITING	Longitudinal Study of Neurogenetic Disorders
NCT03501914	Not specified	COMPLETED	A Pilot Trial of Mindfulness Based Intervention Program for People With Intellectual Disabilities in a Low Income Setting
NCT03522337	Not specified	COMPLETED	Oral Health Promotion Among Preschool Children With Special Needs
NCT03525431	Not specified	COMPLETED	Clinical Utility of Pediatric Whole Exome Sequencing

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for BTF3 across ~30M SureChEMBL compounds — explore on Sugi Predict.