PBX1

Summary

PBX1 (PBX homeobox 1, HGNC:8632) is a protein-coding gene on chromosome 1q23.3, encoding Pre-B-cell leukemia transcription factor 1 (P40424). Transcription factor which binds the DNA sequence 5’-TGATTGAT-3’ as part of a heterodimer with HOX proteins such as HOXA1, HOXA5, HOXB7 and HOXB8. It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 5087 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (Definitive, ClinGen)
• GWAS associations: 24
• Clinical variants (ClinVar): 211 total — 32 pathogenic, 30 likely-pathogenic
• Phenotypes (HPO): 68
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 64 downstream targets (CollecTRI)
• MANE Select transcript: NM_002585

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8632
Approved symbol	PBX1
Name	PBX homeobox 1
Location	1q23.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000185630
Ensembl biotype	protein_coding
OMIM	176310
Entrez	5087

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 16 protein_coding, 6 protein_coding_CDS_not_defined, 3 retained_intron

ENST00000340699, ENST00000367897, ENST00000420696, ENST00000465089, ENST00000467023, ENST00000468104, ENST00000474046, ENST00000482110, ENST00000485769, ENST00000496120, ENST00000498497, ENST00000540236, ENST00000558796, ENST00000558837, ENST00000559240, ENST00000559560, ENST00000559578, ENST00000560469, ENST00000560641, ENST00000605467, ENST00000627490, ENST00000699845, ENST00000699846, ENST00000699847, ENST00000699848

RefSeq mRNA: 5 — MANE Select: NM_002585 NM_001204961, NM_001204963, NM_001353130, NM_001353131, NM_002585

CCDS: CCDS1246, CCDS55653, CCDS55654

Canonical transcript exons

ENST00000420696 — 9 exons

Exon	Start	End
ENSE00001654393	164846584	164851831
ENSE00001705647	164559184	164560013
ENSE00003640225	164563238	164563311
ENSE00003696367	164811990	164812149
ENSE00003699196	164821537	164821626
ENSE00003700624	164820072	164820184
ENSE00003701783	164807542	164807677
ENSE00003786106	164792494	164792738
ENSE00003788310	164799699	164799889

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 98.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.0944 / max 795.9808, expressed in 1411 samples.

FANTOM5 promoters (23 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6355	13.3590	1284
6356	3.9872	1106
6354	3.9026	1138
6360	3.0839	510
6353	3.0656	1019
6358	2.7316	907
6362	1.4583	699
6357	1.4246	687
6352	1.0117	464
6363	0.6634	332

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	98.90	gold quality
cauda epididymis	UBERON:0004360	98.59	gold quality
body of uterus	UBERON:0009853	98.18	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.81	gold quality
ganglionic eminence	UBERON:0004023	97.59	gold quality
buccal mucosa cell	CL:0002336	97.53	gold quality
cranial nerve II	UBERON:0000941	97.41	gold quality
myometrium	UBERON:0001296	97.33	gold quality
endocervix	UBERON:0000458	97.10	gold quality
adrenal tissue	UBERON:0018303	97.00	gold quality
seminal vesicle	UBERON:0000998	96.92	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.88	gold quality
embryo	UBERON:0000922	96.74	gold quality
nipple	UBERON:0002030	96.68	gold quality
ventricular zone	UBERON:0003053	96.60	gold quality
colonic epithelium	UBERON:0000397	96.49	gold quality
substantia nigra pars compacta	UBERON:0001965	96.46	gold quality
parietal pleura	UBERON:0002400	96.46	gold quality
left uterine tube	UBERON:0001303	96.16	gold quality
ectocervix	UBERON:0012249	96.01	gold quality
right uterine tube	UBERON:0001302	95.85	gold quality
mammary duct	UBERON:0001765	95.79	gold quality
medial globus pallidus	UBERON:0002477	95.78	gold quality
adult organism	UBERON:0007023	95.71	gold quality
epithelium of mammary gland	UBERON:0003244	95.59	gold quality
pancreatic ductal cell	CL:0002079	95.52	gold quality
urinary bladder	UBERON:0001255	95.37	gold quality
fallopian tube	UBERON:0003889	95.31	gold quality
caput epididymis	UBERON:0004358	95.30	gold quality
pleura	UBERON:0000977	95.28	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	56.20
E-CURD-112	yes	39.69
E-HCAD-6	yes	31.01
E-CURD-119	yes	28.98
E-ANND-3	yes	20.18
E-MTAB-9067	yes	10.89
E-HCAD-25	yes	9.48
E-CURD-114	yes	6.81
E-MTAB-6678	yes	4.26
E-ENAD-17	no	260.37

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

64 targets.

Target	Regulation
ABCB1
ALDH1A2
ALPL	Activation
ALX1	Activation
ANGPT2
ANXA5	Activation
BGLAP	Repression
CD44	Activation
CDH1	Activation
CDKN1A	Activation
CDKN2A	Activation
CDKN2B	Activation
CFTR	Unknown
CYBB
CYP17A1	Unknown
DCC
EPHA7
ESR1
FGF10	Activation
FGF19	Activation
FGF8	Unknown
FPGS
FSHB
GFM1
GLI3	Activation
HOXB1	Activation
HOXB7	Activation
IBSP	Repression
IGF1R	Activation
IGFBP2	Repression

JASPAR motifs

Motif	Name	Family
MA0070.1	PBX1	TALE-type homeo domain factors
MA0070.2	PBX1	TALE-type homeo domain factors

JASPAR matrix evidence (PMIDs): PMID:7910944

Upstream regulators (CollecTRI, top): ESR1, ESR2, FOXO1, HOXB1, MECOM, NR0B1, NR5A1, PBX1, ZBTB16

miRNA regulators (miRDB)

230 targeting PBX1, 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-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4803	99.98	71.99	3117
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-607	99.97	73.62	5593

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Pbx1 interacts with Pax6 and enhances its transcriptional activity. This interaction was modeled on a demonstrated interaction between zebrafish Pax6 and human Pbx1. (PMID:11069920)
• In Mice, Pbx1 inactivation disrupts pancreas development and in Ipf1-deficient mice promotes diabetes mellitus. (PMID:11912494)
• these studies demonstrate that the homeodomain proteins, MEIS1, PBX1B, and PBX2, play an important role in megakaryocytic gene expression (PMID:12609849)
• PBX1 complexed with HOXA9 and DNA, so that the posterior Hox hexapeptide adopts an altered conformation. (PMID:12923056)
• E2a-Pbx1 and Bmi-1 are likely to play a role in the pathogenesis of human lymphoid leukemias through downregulation of the INK4A-ARF gene (PMID:14536079)
• E2A-PBX1 interacts directly with the KIX domain of CBP/p300 in the induction of proliferation in primary hematopoietic cells (PMID:15507449)
• HoxD9 and Pbx1 are inappropriately expressed in most human esophageal squamous cell carcinoma. Understanding the role of Hox genes in esophageal epithelial cell carcinogenesis may not only augment early detection but also offer possiblde treatment. (PMID:15770739)
• In pancreatic exocrine tissue from obese non-diabetic subjects with increased islet mass, we found that Pbx-1 and Pdx-1 were up-regulated (5.9+/-1.2 and 2.4+/-0.6 versus non-obese). (PMID:15979049)
• No coding variant was associated with diabetes and no association was found among African American subjects. Three variants in Caucasians were associated with T2DM. Three variants were significant determinants of insulin sensitivity (PMID:16140554)
• The patients with immunophenotype of Pre-B-acute lymphoblastic leukemia were found to carry: E2A/PBX1 and E2A/HLF. (PMID:16215946)
• Required for pro-angiogenic homeobox Hox DNA binding and transcriptional activity in endothelial cells. (PMID:16328158)
• Androgen-independent cell line DU145 cells lack PLZF gene expression, resulting in the upregulation of Pbx1 and HoxC8 expression. The Pbx1-HoxC8 heterocomplex may lead to androgen-independent growth in prostate cancer. (PMID:16637071)
• Targeted-E2A-PBX1 inhibition leads to reduced expression of the EB-1 and Wnt16b genes; aberrant expression of these genes may be a key step in leukemogenesis in t(1;19)-positive pre-B leukemia. (PMID:16769578)
• Amino acid substitutions that prevent helix formation prevent both the interaction with KIX domain of cyclic AMP response element-binding protein (CBP) and cell immortalization by E2A-PBX1. (PMID:16914730)
• Expanded polyhistidine repeats in HOXA1 enhance aggregation and cell death, resulting in impaired neuronal differentiation and cooperative binding with PBX1. (PMID:17131398)
• PBX1 plays a crucial role in valosin-containing protein (VCP) expression and function and the PBX-VCP pathway might be important for cell survival under cytokine stress (PMID:17200190)
• Interleukin-10 expression in macrophages during phagocytosis of apoptotic cells is mediated by homeodomain proteins Pbx1 and Prep-1. (PMID:18093541)
• The available data does not support a major influence of common PBX1 variants on type 2 diabetes susceptibility or quantitative metabolic traits (PMID:18312624)
• The prevalence of the E2A-PBX1 fusion gene is one of the highest that has been described thus far in childhood acute lymphoblastic leukemia. (PMID:18455790)
• co-expression of PBX1 and MEIS1/2 in granulosa cells in normal human ovaries suggested that MEIS1/2 might control PBX1 sublocalization, as seen in other systems (PMID:18973687)
• findings indicate that Pbx1 is a direct Notch3-regulated gene that mediates the survival signal of Notch3 in ovarian cancer (PMID:18974129)
• CITED2 and PBX1 are likely to be important mediators of adrenal development and function in humans, but mutations in these genes are not common causes of adrenal failure. (PMID:18984668)
• PBX1 showed genetic and functional association with bone mineral density in Asian population. (PMID:19064610)
• Gfi1 integrates 2 events during normal myeloid differentiation; the suppression of a HoxA9-Pbx1-Meis1 progenitor program and the induction of a granulopoietic transcription program. (PMID:19346496)
• Data showed that both KLF4 and PBX1 mRNA and protein expression were downregulated during hESC differentiation. Overexpression of KLF4 and PBX1 upregulated NANOG promoter activity and NANOG protein expression. (PMID:19522013)
• Pbx1 is a target gene of Evi-1 involved in Evi-1-mediated leukemogenesis. (PMID:19767769)
• Data show that binding of DHS with sequences of HNF1, CDX2, and PBX1 in vitro contribute to understanding of the complexity of cell-type-specific CFTR regulatory mechanisms. (PMID:19782160)
• Data demonstrated that overexpressed PBX1 and MEIS1 increased endogenous SOX3 protein expression in both uninduced and RA-induced NT2/D1 cells. (PMID:19799567)
• The C-terminal extension of PBX1 folds to form a fourth alpha-helix to a level of 5-10%, even in the absence of binding partners. This suggests that PBX1 transiently preorganizes prior to binding DNA. (PMID:21087615)
• Identified 2 known single nucleotide polymorphisms, which indicates that mutations in the coding sequence of PBX1 are not responsible for Mullerian duct abnormalities in Chinese women. (PMID:21575942)
• Klf4 recruits a complex of Meis and Pbx proteins to DNA, resulting in Meis2 transcriptional activation domain-dependent activation of a subset of Klf4 target genes. (PMID:21746878)
• vthe importance of the Hox-Pbx interaction for the oncogenic activity of Hoxa1 (PMID:21957483)
• PBX1 is a novel pioneer factor defining aggressive ERalpha-positive breast tumors, as it guides ERalpha genomic activity to unique genomic regions promoting a transcriptional program favorable to breast cancer progression. (PMID:22125492)
• Splice isoform PBX1-d is expressed more frequently in CD4+ T cells from lupus patients than from healthy controls. Its presence correlates with an increased central memory T cell population. (PMID:22180614)
• The results demonstrate that MEOX1 is a critical target gene and cofactor of PBX1 in ovarian cancers. (PMID:22567123)
• Data indicate that among 31 thymus development-related genes, PBX1 copy number gain and FOXC1 copy number loss were presented in 43.0% and 39.5% of the tumors, respectively. (PMID:23444221)
• E2a-pbx1-positive patients are associated with more aggressive acute lymphoblastic leukemia. (PMID:23511488)
• E2A-PBX1 fusion gene caused by t(1;19)(q23;p13) may be a common genetic change in AIS and a survival determinant for female AIS patients at early stage. (PMID:23688269)
• In this study, we showed that TCF3-PBX1 positive pediatric BCP-ALL patients treated according to the JACLS ALL02 and CCLSG ALL2004 protocol had favorable outcomes (PMID:24578304)
• Induction of PBX1 expression was associated with 13-cisRA responsiveness in neuroblastoma. (PMID:24947929)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pbx1	ENSMUSG00000052534
rattus_norvegicus	Pbx1	ENSRNOG00000070119
drosophila_melanogaster	exd	FBGN0000611
drosophila_melanogaster	hth	FBGN0001235
drosophila_melanogaster	vis	FBGN0033748
drosophila_melanogaster	achi	FBGN0033749
caenorhabditis_elegans		WBGENE00000443
caenorhabditis_elegans		WBGENE00006796
caenorhabditis_elegans		WBGENE00017690

Paralogs (13): MEIS3 (ENSG00000105419), PBX4 (ENSG00000105717), TGIF2 (ENSG00000118707), MEIS2 (ENSG00000134138), MEIS1 (ENSG00000143995), TGIF2LX (ENSG00000153779), PKNOX1 (ENSG00000160199), PKNOX2 (ENSG00000165495), PBX3 (ENSG00000167081), TGIF2LY (ENSG00000176679), TGIF1 (ENSG00000177426), MEIS3P2 (ENSG00000188013), PBX2 (ENSG00000204304)

Protein

Protein identifiers

Pre-B-cell leukemia transcription factor 1 — P40424 (reviewed: P40424)

Alternative names: Homeobox protein PBX1, Homeobox protein PRL

All UniProt accessions (11): A0A8V8TPF7, F8WA05, P40424, H0YKH1, H0YLB0, H0YLD4, H0YLF5, H0YLM3, H0YLT4, Q53YC7, S4R377

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor which binds the DNA sequence 5’-TGATTGAT-3’ as part of a heterodimer with HOX proteins such as HOXA1, HOXA5, HOXB7 and HOXB8. Binds to the DNA sequence 5’-TGATTGAC-3’ in complex with a nuclear factor which is not a class I HOX protein. Has also been shown to bind the DNA sequence 5’-ATCAATCAA-3’ cooperatively with HOXA5, HOXB7, HOXB8, HOXC8 and HOXD4. Acts as a transcriptional activator of PF4 in complex with MEIS1. Also activates transcription of SOX3 in complex with MEIS1 by binding to the 5’-TGATTGAC-3’ consensus sequence. In natural killer cells, binds to the NFIL3 promoter and acts as a transcriptional activator of NFIL3, promoting natural killer cell development. Plays a role in the cAMP-dependent regulation of CYP17A1 gene expression via its cAMP-regulatory sequence (CRS1). Probably in complex with MEIS2, involved in transcriptional regulation by KLF4. Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B. Together with NKX2-5, required for spleen development through a mechanism that involves CDKN2B repression. As part of a PDX1:PBX1b:MEIS2B complex in pancreatic acinar cells, is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element.

Subunit / interactions. Forms a heterodimer with MEIS1 which binds DNA. The PBX1-MEIS1 heterodimer binds a cAMP-responsive sequence in CYP17. It also binds a consensus region in the SOX3 promoter. PBX1 forms heterotrimers with MEIS1 and a number of HOX proteins including HOXA9, HOXD4, HOXD9 and HOXD10. Forms heterodimers with HOXA1, HOXA5, HOXB7 and HOXB8 which bind the 5’-TGATTGAT-3’ consensus sequence. Also forms heterodimers with HOXA5, HOXB7, HOXB8, HOXC8 and HOXD4 which bind the 5’-ATCAATCAA-3’ consensus sequence. Interacts with PBXIP1. Interacts with TLX1. Interacts with FOXC1. Interacts with MN1. Interacts with MEIS2 isoform 4, SP1, SP3 and KLF4. Part of a PDX1:PBX1b:MEIS2B complex; PBX1b recruits MEIS2B to the complex.

Subcellular location. Nucleus.

Tissue specificity. Expressed in the kidney. Expressed in the endothelial cells of the glomeruli and interstitium (at protein level). Expressed in all tissues except in cells of the B and T lineage. Expressed strongly in kidney and brain.

Disease relevance. Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED) [MIM:617641] An autosomal dominant disorder characterized by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay. The disease is caused by variants affecting the gene represented in this entry. A chromosomal aberration involving PBX1 is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL). Translocation t(1;19)(q23;p13.3) with TCF3. TCF3-PBX1 transforms cells by constitutively activating transcription of genes regulated by PBX1 or by other members of the PBX protein family. TCF3-PBX1 binds the DNA sequence 5’-ATCAATCAA-3'.

Domain organisation. The homeobox is required for PBX1 nuclear localization and for transcriptional activation of NFIL3.

Similarity. Belongs to the TALE/PBX homeobox family.

Isoforms (3)

UniProt ID	Names	Canonical?
P40424-1	PBX1a	yes
P40424-2	PBX1b
P40424-3	3

RefSeq proteins (5): NP_001191890, NP_001191892, NP_001340059, NP_001340060, NP_002576* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR005542	PBX_PBC_dom	Domain
IPR008422	KN_HD	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR050224	TALE_homeobox	Family

Pfam: PF03792, PF05920

UniProt features (24 total): region of interest 5, helix 4, splice variant 3, site 2, sequence variant 2, turn 2, compositionally biased region 2, chain 1, domain 1, sequence conflict 1, DNA-binding region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
1PUF	X-RAY DIFFRACTION	1.9
1B72	X-RAY DIFFRACTION	2.35

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P40424-F1	71.31	0.34

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 (2): 88–89 (breakpoint for translocation to form tcf3-pbx1 oncogene); 286 (required for binding to the nfil3 promoter)

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-452723	Transcriptional regulation of pluripotent stem cells
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-9013508	NOTCH3 Intracellular Domain Regulates Transcription

MSigDB gene sets: 0 (showing top):

GO Biological Process (31): G2/M transition of mitotic cell cycle (GO:0000086), eye development (GO:0001654), urogenital system development (GO:0001655), branching involved in ureteric bud morphogenesis (GO:0001658), natural killer cell differentiation (GO:0001779), steroid biosynthetic process (GO:0006694), brain development (GO:0007420), sex differentiation (GO:0007548), animal organ morphogenesis (GO:0009887), anterior/posterior pattern specification (GO:0009952), proximal/distal pattern formation (GO:0009954), positive regulation of G2/M transition of mitotic cell cycle (GO:0010971), regulation of ossification (GO:0030278), adrenal gland development (GO:0030325), embryonic limb morphogenesis (GO:0030326), embryonic hemopoiesis (GO:0035162), obsolete negative regulation of DNA-binding transcription factor activity (GO:0043433), negative regulation of neuron differentiation (GO:0045665), positive regulation of transcription by RNA polymerase II (GO:0045944), spleen development (GO:0048536), thymus development (GO:0048538), embryonic organ development (GO:0048568), neuron development (GO:0048666), embryonic skeletal system development (GO:0048706), stem cell proliferation (GO:0072089), positive regulation of stem cell proliferation (GO:2000648), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), cell population proliferation (GO:0008283), cell differentiation (GO:0030154), regulation of cell population proliferation (GO:0042127)

GO Molecular Function (14): 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), transcription coregulator binding (GO:0001221), transcription corepressor binding (GO:0001222), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), DNA-binding transcription factor binding (GO:0140297), sequence-specific double-stranded DNA binding (GO:1990837), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), transcription coregulator activity (GO:0003712), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), RNA polymerase II transcription regulator complex (GO:0090575), transcription regulator complex (GO:0005667)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Developmental Biology	1
Activation of HOX genes during differentiation	1
Signaling by NOTCH3	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
cellular anatomical structure	3
animal organ development	2
regionalization	2
regulation of transcription by RNA polymerase II	2
transcription factor binding	2
transcription cis-regulatory region binding	2
transcription regulator activity	2
mitotic cell cycle	1
mitotic cell cycle phase transition	1
cell cycle G2/M phase transition	1
sensory organ development	1
visual system development	1
system development	1
renal system development	1
branching morphogenesis of an epithelial tube	1
ureteric bud morphogenesis	1
lymphocyte differentiation	1
natural killer cell activation	1
steroid metabolic process	1
lipid biosynthetic process	1
central nervous system development	1
head development	1
developmental process involved in reproduction	1
anatomical structure morphogenesis	1
G2/M transition of mitotic cell cycle	1
regulation of G2/M transition of mitotic cell cycle	1
positive regulation of mitotic cell cycle phase transition	1
positive regulation of cell cycle G2/M phase transition	1
ossification	1
regulation of multicellular organismal process	1
endocrine system development	1
gland development	1
limb morphogenesis	1
embryonic appendage morphogenesis	1
hemopoiesis	1
embryonic organ development	1
neuron differentiation	1
negative regulation of cell differentiation	1
regulation of neuron differentiation	1

Protein interactions and networks

STRING

2010 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PBX1	PKNOX1	P55347	988
PBX1	MEIS1	O00470	983
PBX1	HOXB1	P14653	983
PBX1	HOXA9	P31269	980
PBX1	TCF3	P15883	961
PBX1	PDX1	P52945	873
PBX1	RUNX1	Q01196	857
PBX1	FOXA1	P55317	855
PBX1	AFF1	P51825	851
PBX1	MEIS2	O14770	837
PBX1	HOXB7	P09629	812
PBX1	ETV6	P41212	796
PBX1	HOXB8	P17481	780
PBX1	KMT2A	Q03164	762
PBX1	HOXA10	P31260	756

IntAct

91 interactions, top by confidence:

A	B	Type	Score
PBX1	PKNOX1	psi-mi:“MI:0915”(physical association)	0.810
PKNOX1	PBX1	psi-mi:“MI:0915”(physical association)	0.810
FOXC1	PBX1	psi-mi:“MI:0915”(physical association)	0.700
PBX1	FOXC1	psi-mi:“MI:0915”(physical association)	0.700
FOXC1	PBX1	psi-mi:“MI:0403”(colocalization)	0.700
MEIS2	PBX1	psi-mi:“MI:0915”(physical association)	0.680
MEIS1	CREB1	psi-mi:“MI:0914”(association)	0.680
PBX1	MEIS2	psi-mi:“MI:0915”(physical association)	0.680
MEIS2	PBX1	psi-mi:“MI:0915”(physical association)	0.660
MEIS2	PBX1	psi-mi:“MI:0914”(association)	0.660
CCDC120	AIP	psi-mi:“MI:0914”(association)	0.640
PBX1	BRMS1L	psi-mi:“MI:0915”(physical association)	0.560
PBX1	EFHC1	psi-mi:“MI:0915”(physical association)	0.560
PBX1	PIN1	psi-mi:“MI:0915”(physical association)	0.560
HOXB5	PBX1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (120): PBX1 (Affinity Capture-MS), PBX1 (Affinity Capture-MS), PBX1 (Affinity Capture-MS), PBX1 (Affinity Capture-MS), PBX1 (Affinity Capture-MS), PBX1 (Affinity Capture-MS), PBX1 (PCA), PBX1 (Affinity Capture-MS), PBX1 (Affinity Capture-MS), PBX1 (Affinity Capture-MS), PBX1 (Affinity Capture-MS), PBX1 (Affinity Capture-MS), PBX1 (Affinity Capture-MS), PKNOX1 (Affinity Capture-Western), PBX1 (Affinity Capture-Western)

ESM2 similar proteins: A3KMR8, A7Z017, B3DM47, B4R090, D3ZNT6, O35317, O35984, O42290, O57342, O75030, O75444, P10083, P23091, P25932, P40424, P40425, P40426, P41778, P54841, P54842, P54843, P54844, P56224, P57102, P61295, P61296, P79745, P79746, Q05192, Q0V9K1, Q27350, Q2PFS4, Q32NP8, Q4U1U2, Q504L8, Q61039, Q6DE84, Q6PFG8, Q789F3, Q7RTU3

Diamond homologs: A1YER0, A2D5H2, A6NDR6, A8K0S8, A8WL06, B3DM47, B4F6V6, O00470, O04134, O04135, O14770, O17894, O22299, O35317, O35984, O42406, O46339, O65034, O73916, O80416, O93307, O95343, O95475, P10842, P24345, P40424, P40425, P40426, P40427, P41778, P41779, P41817, P46608, P46609, P46639, P46640, P48731, P53147, P56661, P56662

SIGNOR signaling

13 interactions.

A	Effect	B	Mechanism
PBX1	“up-regulates activity”	MYOD1	binding
PBX1	“form complex”	“MYOD1/SWI/SNF complex”	binding
MECOM	“up-regulates quantity by expression”	PBX1	“transcriptional regulation”
HOXB8	“up-regulates activity”	PBX1	binding
KLF4	“up-regulates activity”	PBX1	binding
PBX1	“up-regulates quantity by expression”	CDKN2A	“transcriptional regulation”
PBX1	“up-regulates quantity by expression”	CDH1	“transcriptional regulation”
PBXIP1	“down-regulates activity”	PBX1	binding
PBX1	“down-regulates quantity by repression”	FGF8	“transcriptional regulation”
PKNOX1	“up-regulates activity”	PBX1	binding
PBX1	“up-regulates activity”	HOXB1	binding
ZNF462	“down-regulates activity”	PBX1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 56 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.

GO biological processes:

GO term	Partners	Fold	FDR
eye development	6	41.3×	2e-06
anatomical structure morphogenesis	7	19.1×	7e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	32
Likely pathogenic	30
Uncertain significance	88
Likely benign	37
Benign	8

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1074696	NM_002585.4(PBX1):c.140del (p.Leu47fs)	Pathogenic
1098351	NM_002585.4(PBX1):c.52G>T (p.Gly18Ter)	Pathogenic
1251927	NM_002585.4(PBX1):c.67del (p.Ser23fs)	Pathogenic
1430515	NM_002585.4(PBX1):c.790G>T (p.Glu264Ter)	Pathogenic
1686006	NM_002585.4(PBX1):c.318dup (p.Arg107fs)	Pathogenic
2430577	NM_002585.4(PBX1):c.862C>T (p.Arg288Ter)	Pathogenic
2441873	NM_002585.4(PBX1):c.630_631del (p.Ile211fs)	Pathogenic
2505899	NM_002585.4(PBX1):c.660C>A (p.Cys220Ter)	Pathogenic
2576953	NM_002585.4(PBX1):c.844A>G (p.Asn282Asp)	Pathogenic
2582616	NM_002585.4(PBX1):c.121C>T (p.Gln41Ter)	Pathogenic
3235971	NM_002585.4(PBX1):c.667dup (p.Val223fs)	Pathogenic
3342249	NM_002585.4(PBX1):c.939dup (p.Thr314fs)	Pathogenic
3374741	NM_002585.4(PBX1):c.191+1G>A	Pathogenic
3414607	NM_002585.4(PBX1):c.518del (p.Asn173fs)	Pathogenic
4071981	NM_002585.4(PBX1):c.240_241del (p.Leu81fs)	Pathogenic
4071982	NM_002585.4(PBX1):c.837+1dup	Pathogenic
4073620	NM_002585.4(PBX1):c.869G>T (p.Arg290Leu)	Pathogenic
4088187	NM_002585.4(PBX1):c.874A>G (p.Lys292Glu)	Pathogenic
4131524	NM_002585.4(PBX1):c.395_396dup (p.Ala133fs)	Pathogenic
437835	NM_002585.4(PBX1):c.428del (p.Asn143fs)	Pathogenic
437836	NM_002585.4(PBX1):c.550C>T (p.Arg184Ter)	Pathogenic
437837	NM_002585.4(PBX1):c.511-2A>G	Pathogenic
4532142	NM_002585.4(PBX1):c.620dup (p.Phe208fs)	Pathogenic
488567	NM_002585.4(PBX1):c.413_419del (p.Gly138fs)	Pathogenic
523088	NM_002585.4(PBX1):c.680G>C (p.Arg227Pro)	Pathogenic
523090	NM_002585.4(PBX1):c.704G>A (p.Arg235Gln)	Pathogenic
523091	NM_002585.4(PBX1):c.783dup (p.Ser262fs)	Pathogenic
620254	NM_002585.4(PBX1):c.422C>G (p.Ser141Ter)	Pathogenic
807456	NM_002585.4(PBX1):c.661G>T (p.Glu221Ter)	Pathogenic
817312	NM_002585.4(PBX1):c.370_371dup (p.Gly125fs)	Pathogenic

SpliceAI

3566 predictions. Top by Δscore:

Variant	Effect	Δscore
1:164559792:G:GT	donor_gain	1.0000
1:164559904:G:GT	donor_gain	1.0000
1:164682393:C:G	donor_gain	1.0000
1:164682397:G:GG	donor_gain	1.0000
1:164792489:TGTA:T	acceptor_loss	1.0000
1:164792490:GTA:G	acceptor_loss	1.0000
1:164792491:TA:T	acceptor_loss	1.0000
1:164792492:A:AC	acceptor_loss	1.0000
1:164792492:A:AG	acceptor_gain	1.0000
1:164792493:G:GG	acceptor_gain	1.0000
1:164792493:G:GT	acceptor_loss	1.0000
1:164792493:GTT:G	acceptor_gain	1.0000
1:164792493:GTTT:G	acceptor_gain	1.0000
1:164792493:GTTTT:G	acceptor_gain	1.0000
1:164798854:G:GT	donor_gain	1.0000
1:164799692:A:AG	acceptor_gain	1.0000
1:164799885:GCGCG:G	donor_gain	1.0000
1:164799887:GCG:G	donor_gain	1.0000
1:164799887:GCGGT:G	donor_loss	1.0000
1:164799888:CGG:C	donor_loss	1.0000
1:164799889:GGTGA:G	donor_loss	1.0000
1:164799890:G:GA	donor_loss	1.0000
1:164799890:G:GG	donor_gain	1.0000
1:164799891:T:A	donor_loss	1.0000
1:164799892:GA:G	donor_loss	1.0000
1:164807538:A:AG	acceptor_gain	1.0000
1:164807675:CAGGT:C	donor_loss	1.0000
1:164807676:AGG:A	donor_loss	1.0000
1:164807677:GGT:G	donor_loss	1.0000
1:164807678:GT:G	donor_loss	1.0000

AlphaMissense

2816 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:164559962:T:C	L47S	1.000
1:164559971:T:A	I50N	1.000
1:164559971:T:C	I50T	1.000
1:164559971:T:G	I50S	1.000
1:164559980:T:A	I53N	1.000
1:164559980:T:C	I53T	1.000
1:164559980:T:G	I53S	1.000
1:164559983:C:T	T54I	1.000
1:164559995:T:C	L58S	1.000
1:164559995:T:G	L58W	1.000
1:164560003:G:C	A61P	1.000
1:164560007:A:C	Q62P	1.000
1:164560009:G:C	A63P	1.000
1:164563239:A:G	K65E	1.000
1:164563240:A:T	K65I	1.000
1:164563241:A:C	K65N	1.000
1:164563241:A:T	K65N	1.000
1:164563249:T:C	L68S	1.000
1:164563257:C:G	H71D	1.000
1:164563258:A:G	H71R	1.000
1:164563259:C:A	H71Q	1.000
1:164563259:C:G	H71Q	1.000
1:164563266:A:G	K74E	1.000
1:164563268:G:C	K74N	1.000
1:164563268:G:T	K74N	1.000
1:164563276:T:C	L77S	1.000
1:164563276:T:G	L77W	1.000
1:164563278:T:A	F78I	1.000
1:164563278:T:C	F78L	1.000
1:164563279:T:C	F78S	1.000

dbSNP variants (sampled 300 via entrez): RS1000015457 (1:164756206 C>T), RS1000017037 (1:164649455 A>T), RS1000031652 (1:164864975 T>A), RS1000032194 (1:164842086 G>A,T), RS1000042476 (1:164621861 A>C,G), RS1000049570 (1:164649152 C>G,T), RS1000056621 (1:164578817 A>G), RS1000059126 (1:164858275 G>A,T), RS1000060382 (1:164849367 C>T), RS1000060645 (1:164798381 T>A), RS1000071694 (1:164776994 C>A,G,T), RS1000076457 (1:164823079 C>T), RS1000083685 (1:164865152 T>A), RS1000087090 (1:164731012 A>C), RS1000088969 (1:164791577 G>A)

Disease associations

OMIM: gene MIM:176310 | disease phenotypes: MIM:617641

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	Definitive	AD

Mondo (2): congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (MONDO:0060549), autism spectrum disorder (MONDO:0005258)

Orphanet (2): PBX1-related congenital anomalies of kidney-urinary tract syndrome (Orphanet:656130), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

68 total (30 of 68 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000028	Cryptorchidism
HP:0000054	Micropenis
HP:0000062	Ambiguous genitalia
HP:0000076	Vesicoureteral reflux
HP:0000083	Renal insufficiency
HP:0000085	Horseshoe kidney
HP:0000086	Ectopic kidney
HP:0000089	Renal hypoplasia
HP:0000093	Proteinuria
HP:0000104	Renal agenesis
HP:0000107	Renal cyst
HP:0000110	Renal dysplasia
HP:0000122	Unilateral renal agenesis
HP:0000219	Thin upper lip vermilion
HP:0000275	Narrow face
HP:0000276	Long face
HP:0000286	Epicanthus
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000377	Abnormal pinna morphology
HP:0000391	Thickened helices
HP:0000431	Wide nasal bridge
HP:0000463	Anteverted nares
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000540	Hypermetropia
HP:0000639	Nystagmus
HP:0000750	Delayed speech and language development
HP:0000776	Congenital diaphragmatic hernia

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST000839_7	Height	3.000000e-06
GCST001816_2	Breast cancer (prognosis)	4.000000e-06
GCST002408_18	Response to methotrexate in juvenile idiopathic arthritis	6.000000e-06
GCST003542_187	Night sleep phenotypes	8.000000e-06
GCST003997_32	Myopia	3.000000e-19
GCST004049_31	Cough in response to angiotensin-converting enzyme inhibitor drugs	3.000000e-06
GCST004138_12	Early-onset Parkinson’s disease	1.000000e-10
GCST005212_19	Asthma	9.000000e-06
GCST006291_107	Spherical equivalent or myopia (age of diagnosis)	1.000000e-18
GCST008758_50	Pre-treatment viral load in HIV-1 infection	2.000000e-21
GCST010002_397	Refractive error	9.000000e-48
GCST011704_3	Smoking status (current vs never)	2.000000e-08
GCST012403_126	High myopia	5.000000e-09
GCST012489_103	Heel bone mineral density x serum urate levels interaction	1.000000e-08
GCST012490_4	Femur bone mineral density x serum urate levels interaction	3.000000e-15
GCST90002388_632	Lymphocyte count	2.000000e-09
GCST90002395_541	Mean platelet volume	3.000000e-15
GCST90002396_151	Mean reticulocyte volume	3.000000e-11
GCST90002403_48	Red blood cell count	1.000000e-09
GCST90020024_611	A body shape index	1.000000e-11
GCST90020025_1251	Waist-to-hip ratio adjusted for BMI	3.000000e-08
GCST90020027_1812	Waist-hip index	5.000000e-08
GCST90020027_1813	Waist-hip index	2.000000e-08
GCST90020029_1233	Waist circumference adjusted for body mass index	3.000000e-11

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0005325	response to angiotensin-converting enzyme inhibitor
EFO:0004847	age at onset
EFO:0010125	viral load
EFO:0006527	smoking status measurement
EFO:0004531	urate measurement
EFO:0009270	heel bone mineral density
EFO:0004587	lymphocyte count
EFO:0010701	mean reticulocyte volume
EFO:0004305	erythrocyte count
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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	decreases expression, affects cotreatment, increases abundance, increases expression	7
Valproic Acid	decreases expression, increases expression	4
bisphenol A	affects cotreatment, increases methylation, decreases methylation, increases expression	3
Tobacco Smoke Pollution	decreases expression	3
Aflatoxin B1	decreases methylation, increases methylation, affects expression	3
Estradiol	affects cotreatment, decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	increases expression	2
TAK-243	increases sumoylation	1
methylmercuric chloride	decreases expression, increases expression	1
triphenyl phosphate	affects expression	1
geraniol	decreases expression	1
methylselenic acid	increases expression	1
sodium arsenate	decreases expression	1
sulforaphane	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
aflatoxin B2	decreases methylation, increases methylation	1
nickel sulfate	increases expression	1
hydroquinone	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
antimonite	decreases expression, increases abundance	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation, affects methylation, affects cotreatment	1
NSC 689534	affects binding, decreases expression	1
Dasatinib	increases expression	1

Cellosaurus cell lines

26 cell lines: 21 cancer cell line, 3 embryonic stem cell, 2 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_0079	697	Cancer cell line	Male
CVCL_0089	MHH-CALL-3	Cancer cell line	Female
CVCL_0590	Kasumi-2	Cancer cell line	Male
CVCL_1851	RCH-ACV	Cancer cell line	Female
CVCL_9247	THP-4	Cancer cell line	Male
CVCL_A079	YAMN-90R	Cancer cell line	Male
CVCL_A080	YAMN-92	Cancer cell line	Male
CVCL_A087	YCUB-6	Cancer cell line	Male
CVCL_A326	KOPN-34	Cancer cell line	Male
CVCL_A328	KOPN-36	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder