POGZ

Summary

POGZ (pogo transposable element derived with ZNF domain, HGNC:18801) is a protein-coding gene on chromosome 1q21.3, encoding Pogo transposable element with ZNF domain (Q7Z3K3). Plays a role in mitotic cell cycle progression and is involved in kinetochore assembly and mitotic sister chromatid cohesion. It is a selective cancer dependency (DepMap: 26.1% of cell lines) and haploinsufficient (ClinGen: sufficient evidence).

The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed.

Source: NCBI Gene 23126 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome (Definitive, ClinGen)
• GWAS associations: 4
• Clinical variants (ClinVar): 959 total — 115 pathogenic, 89 likely-pathogenic (top 3% of genes corpus-wide)
• Regional missense constraint (gnomAD): 4 of 10 regions constrained (≈12% of expected missense variation)
• GTEx eGene: eQTL in 44 tissues, sQTL in 2 (q < 0.05)
• Phenotypes (HPO): 161
• Cancer dependency (DepMap): dependent in 26.1% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.20 (highly constrained)
• MANE Select transcript: NM_015100

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18801
Approved symbol	POGZ
Name	pogo transposable element derived with ZNF domain
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0461, ZNF635, ZNF280E
Ensembl gene	ENSG00000143442
Ensembl biotype	protein_coding
OMIM	614787
Entrez	23126

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 15 protein_coding, 8 retained_intron, 1 nonsense_mediated_decay

MANE Select: ENST00000271715

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 4, TSL 2: 6, TSL 3: 4, TSL 4: 2, TSL 5: 4

ENST00000271715, ENST00000358476, ENST00000368863, ENST00000392723, ENST00000409503, ENST00000439756, ENST00000441516, ENST00000450842, ENST00000467287, ENST00000476128, ENST00000482678, ENST00000485040, ENST00000491586, ENST00000492528, ENST00000495253, ENST00000497787, ENST00000529669, ENST00000531094, ENST00000533351, ENST00000533461, ENST00000594456, ENST00000703168, ENST00000703169, ENST00000710270

RefSeq mRNA: 6 — MANE Select: NM_015100 NM_001194937, NM_001194938, NM_001410860, NM_015100, NM_145796, NM_207171

CCDS: CCDS44222, CCDS53365, CCDS53366, CCDS91052, CCDS997, CCDS998

Canonical transcript exons

ENST00000271715 — 19 exons

Exon	Start	End
ENSE00001149109	151406607	151406631
ENSE00001149118	151406911	151407023
ENSE00002116752	151442081	151442205
ENSE00003459168	151429603	151429711
ENSE00003488949	151412296	151412396
ENSE00003509277	151407235	151407291
ENSE00003525195	151430666	151430841
ENSE00003558167	151424955	151425061
ENSE00003569754	151402724	151406464
ENSE00003587994	151408409	151408581
ENSE00003597500	151428123	151428413
ENSE00003626420	151408694	151408828
ENSE00003639343	151408100	151408240
ENSE00003654039	151427823	151428041
ENSE00003660918	151423397	151423551
ENSE00003661027	151411625	151411771
ENSE00003668984	151423949	151424286
ENSE00003689512	151440928	151441086
ENSE00004010818	151459152	151459494

Expression profiles

Bgee: expression breadth ubiquitous, 298 present calls, max score 98.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.0739 / max 152.6600, expressed in 1807 samples.

Highest expression (Bgee): uterine tube, hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex, cerebellum.

Genetic regulation across tissues (GTEx eQTL / sQTL)

POGZ is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 44 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 46 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Nerve Tibial	eqtl	4.1e-44	+0.23	1:151458279:T:C
Whole Blood	eqtl	6.5e-34	-0.26	1:151452495:T:C
Artery Tibial	eqtl	1.9e-26	+0.21	1:151458279:T:C
Muscle Skeletal	eqtl	9.4e-26	-0.31	1:151470383:C:T
Cells Cultured fibroblasts	eqtl	2.3e-25	-0.21	1:151423306:T:C
Testis	eqtl	2.5e-22	+0.26	1:151420952:C:G
Adipose Subcutaneous	eqtl	7.2e-20	+0.18	1:151458279:T:C
Esophagus Gastroesophageal Junction	eqtl	9.3e-20	+0.25	1:151458279:T:C
Artery Aorta	eqtl	1.9e-18	+0.20	1:151458279:T:C
Breast Mammary Tissue	eqtl	6.6e-17	+0.22	1:151458279:T:C
Thyroid	eqtl	1.5e-16	+0.16	1:151410845:C:T
Skin Not Sun Exposed Suprapubic	eqtl	2.1e-16	+0.23	1:151463465:C:T
Brain Cerebellum	eqtl	2.0e-15	-0.47	1:151412235:A:G
Adipose Visceral Omentum	eqtl	1.0e-14	+0.16	1:151420952:C:G
Skin Sun Exposed Lower leg	eqtl	5.7e-14	-0.21	1:151402069:C:T
Esophagus Mucosa	eqtl	1.3e-13	+0.16	1:151410845:C:T
Brain Cerebellar Hemisphere	eqtl	4.3e-13	-0.34	1:151458228:A:G
Colon Sigmoid	eqtl	1.0e-12	+0.19	1:151458279:T:C
Esophagus Muscularis	eqtl	1.7e-11	-0.15	1:151423306:T:C
Heart Atrial Appendage	eqtl	3.1e-09	+0.20	1:151458279:T:C

FANTOM5 promoters

9 alternative TSS:

Promoter ID	TPM avg	Samples expressed
14447	11.6812	1772
14444	4.3967	1549
14442	2.5734	1077
14446	0.8466	523
14445	0.5798	363
14437	0.4385	206
201730	0.2383	87
14443	0.1777	78
14440	0.1416	58

Top tissues by expression

showing 100 of 302 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.00	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.31	gold quality
cerebellar hemisphere	UBERON:0002245	97.21	gold quality
cerebellar cortex	UBERON:0002129	97.18	gold quality
cerebellum	UBERON:0002037	97.10	gold quality
buccal mucosa cell	CL:0002336	97.00	gold quality
sural nerve	UBERON:0015488	96.61	gold quality
left ovary	UBERON:0002119	96.57	gold quality
pituitary gland	UBERON:0000007	96.37	gold quality
ovary	UBERON:0000992	95.98	gold quality
right ovary	UBERON:0002118	95.89	gold quality
adenohypophysis	UBERON:0002196	95.76	gold quality
ganglionic eminence	UBERON:0004023	95.76	gold quality
right lobe of thyroid gland	UBERON:0001119	95.66	gold quality
nerve	UBERON:0001021	95.64	gold quality
tibial nerve	UBERON:0001323	95.64	gold quality
thyroid gland	UBERON:0002046	95.61	gold quality
left lobe of thyroid gland	UBERON:0001120	95.58	gold quality
body of uterus	UBERON:0009853	95.43	gold quality
colonic epithelium	UBERON:0000397	95.40	gold quality
corpus callosum	UBERON:0002336	95.28	gold quality
cortical plate	UBERON:0005343	95.13	gold quality
embryo	UBERON:0000922	95.08	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.06	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.92	gold quality
lower esophagus	UBERON:0013473	94.90	gold quality
tibia	UBERON:0000979	94.89	gold quality
lateral globus pallidus	UBERON:0002476	94.85	gold quality
ventricular zone	UBERON:0003053	94.79	gold quality
endocervix	UBERON:0000458	94.77	gold quality
caput epididymis	UBERON:0004358	94.74	gold quality
paraflocculus	UBERON:0005351	94.69	gold quality
muscle layer of sigmoid colon	UBERON:0035805	94.65	gold quality
metanephros cortex	UBERON:0010533	94.64	gold quality
corpus epididymis	UBERON:0004359	94.34	gold quality
hair follicle	UBERON:0002073	94.17	gold quality
mucosa of stomach	UBERON:0001199	94.11	gold quality
adrenal tissue	UBERON:0018303	94.11	gold quality
Brodmann (1909) area 10	UBERON:0013541	94.06	gold quality
right frontal lobe	UBERON:0002810	93.98	gold quality
fundus of stomach	UBERON:0001160	93.95	gold quality
inferior olivary complex	UBERON:0002127	93.82	gold quality
right coronary artery	UBERON:0001625	93.80	gold quality
cauda epididymis	UBERON:0004360	93.80	gold quality
inferior vagus X ganglion	UBERON:0005363	93.79	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.73	gold quality
left uterine tube	UBERON:0001303	93.72	gold quality
right adrenal gland	UBERON:0001233	93.71	gold quality
right adrenal gland cortex	UBERON:0035827	93.67	gold quality
renal medulla	UBERON:0000362	93.65	gold quality
superficial temporal artery	UBERON:0001614	93.55	gold quality
endometrium epithelium	UBERON:0004811	93.50	gold quality
CA1 field of hippocampus	UBERON:0003881	93.49	gold quality
bone marrow cell	CL:0002092	93.48	gold quality
prostate gland	UBERON:0002367	93.45	gold quality
spinal cord	UBERON:0002240	93.43	gold quality
vagina	UBERON:0000996	93.41	gold quality
middle frontal gyrus	UBERON:0002702	93.41	gold quality
subthalamic nucleus	UBERON:0001906	93.37	gold quality
body of pancreas	UBERON:0001150	93.29	gold quality
cerebellar vermis	UBERON:0004720	93.26	gold quality
sigmoid colon	UBERON:0001159	93.21	gold quality
adrenal cortex	UBERON:0001235	93.21	gold quality
right testis	UBERON:0004534	93.19	gold quality
female reproductive system	UBERON:0000474	93.17	gold quality
myometrium	UBERON:0001296	93.16	gold quality
trigeminal ganglion	UBERON:0001675	93.13	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	93.13	gold quality
left adrenal gland cortex	UBERON:0035825	93.13	gold quality
Brodmann (1909) area 46	UBERON:0006483	93.10	gold quality
primary visual cortex	UBERON:0002436	93.06	gold quality
ectocervix	UBERON:0012249	93.05	gold quality
stomach	UBERON:0000945	93.04	gold quality
stromal cell of endometrium	CL:0002255	92.95	gold quality
left adrenal gland	UBERON:0001234	92.91	gold quality
medulla oblongata	UBERON:0001896	92.90	gold quality
left testis	UBERON:0004533	92.90	gold quality
uterus	UBERON:0000995	92.82	gold quality
occipital lobe	UBERON:0002021	92.81	gold quality
adrenal gland	UBERON:0002369	92.80	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.76	gold quality
central nervous system	UBERON:0001017	92.72	gold quality
body of stomach	UBERON:0001161	92.72	gold quality
testis	UBERON:0000473	92.71	gold quality
brain	UBERON:0000955	92.70	gold quality
minor salivary gland	UBERON:0001830	92.59	gold quality
caudate nucleus	UBERON:0001873	92.57	gold quality
postcentral gyrus	UBERON:0002581	92.49	gold quality
esophagus	UBERON:0001043	92.48	gold quality
popliteal artery	UBERON:0002250	92.47	gold quality
tibial artery	UBERON:0007610	92.47	gold quality
cardia of stomach	UBERON:0001162	92.46	gold quality
nucleus accumbens	UBERON:0001882	92.46	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.43	gold quality
parietal lobe	UBERON:0001872	92.41	gold quality
descending thoracic aorta	UBERON:0002345	92.33	gold quality
dorsal plus ventral thalamus	UBERON:0001897	92.30	gold quality
peritoneum	UBERON:0002358	92.26	gold quality
omental fat pad	UBERON:0010414	92.26	gold quality
coronary artery	UBERON:0001621	92.23	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Postcentral gyrus	tissue	80.4
Nucleus accumbens	tissue	80.1
Locus coeruleus	tissue	73.0
Hippocampus	tissue	72.5	high
Choroid plexus	tissue	64.0
Pituitary gland	tissue	58.4
Epididymis	tissue	46.5	high
Retina	tissue	41.5
Ovary	tissue	35.1	medium
Bone marrow	tissue	34.5	high
Endometrium 1	tissue	31.2	high
Vagina	tissue	31.0	high
Fallopian tube	tissue	29.6	medium
Parathyroid gland	tissue	28.6	medium
Skin 1	tissue	28.0	high
Cerebellum	tissue	26.1	high
Smooth muscle	tissue	25.5	medium
Breast	tissue	23.8	high
Thymus	tissue	23.7
Testis	tissue	23.1	high
Thyroid gland	tissue	22.7	high
Skeletal muscle	tissue	22.6	medium
Seminal vesicle	tissue	21.5	medium
Spleen	tissue	21.2	medium
Olfactory bulb	tissue	21.1
Caudate putamen	tissue	20.2
Cervix	tissue	19.9	high
Prostate	tissue	19.8	low
Tonsil	tissue	19.7	medium
Salivary gland	tissue	19.6	high
Gallbladder	tissue	19.6	high
Tongue	tissue	19.0
Adrenal gland	tissue	18.9	high
Lymph node	tissue	18.7	medium
Lung	tissue	18.5	high
Basal ganglia	tissue	18.3	high
Pancreas	tissue	18.2	low
Spinal cord	tissue	18.2
Hippocampal formation	tissue	18.2
Rectum	tissue	18.0	high
Hypothalamus	tissue	17.9
Ventral forebrain	tissue	17.9
Septum	tissue	17.8
Midbrain	tissue	17.1
Thalamus	tissue	17.1
Corpus callosum	tissue	17.0
Prefrontal cortex	tissue	16.9
Cerebral cortex	tissue	16.9	high
Somatosensory cortex	tissue	16.9
Putamen	tissue	16.6
Superior colliculi	tissue	16.6
Periaqueductal gray	tissue	16.5
Substantia nigra	tissue	16.4
Motor cortex	tissue	16.3
Amygdala	tissue	16.3
Entorhinal cortex	tissue	16.3
Occipital cortex	tissue	16.2
Insular cortex	tissue	16.2
Adipose tissue	tissue	16.1	medium
Medulla oblongata	tissue	16.1

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Parieto-temporal junction (white matter) (137.2), Temporal white matter (127.7), Flocculonodular lobe (117.5), Cerebellar cortex (113.2), Corpus callosum, splenium (white matter) (113.2).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

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

showing 30 of 174 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
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-548N	99.98	71.94	4170

Functional genomics

gnomAD constraint: pLI 1, LOEUF 0.198, missense Z 4.15 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000271715 splits into 10 regions with different missense tolerance; 4 are missense-constrained (≈12% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
1:151,404,805–151,405,056	107 / 97.9	1.09	no
1:151,405,057–151,405,322	67 / 105.8	0.63	no
1:151,405,323–151,405,361	3 / 18.1	0.17	yes (p 3.8e-04)
1:151,405,362–151,405,804	161 / 185.4	0.87	no
1:151,405,805–151,405,972	24 / 69.6	0.34	yes (p 4.6e-08)
1:151,405,973–151,406,989	214 / 255.5	0.84	no
1:151,406,990–151,408,231	34 / 95.5	0.36	yes (p 3.1e-10)
1:151,408,232–151,412,392	149 / 237.5	0.63	no
1:151,412,393–151,442,147	541 / 680.5	0.80	no
1:151,442,148–151,442,204	6 / 23.9	0.25	yes (p 2.5e-04)
ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
DepMap (CRISPR cell-line fitness): dependent in 26.1% of screened cell lines.

Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): NZM42 (-1.343), LNZTA3WT4 (-1.1), UM-UC9 (-1.096), CCK-81 (-1.083), NCI-H1573 (-1.016), Caov-4 (-0.998), KYAE-1 (-0.974), RERF-GC-1B (-0.971), Caki-1 (-0.969), HEC-116 (-0.964), Hs 695T (-0.96), SK-N-FI (-0.953), JURKAT (-0.951), JEG-3 (-0.951), MHH-NB-11 (-0.92).

Literature-anchored findings (GeneRIF, showing 20)

• LEDGF/p75 has a role in DDE domain protein function and interacts with the transposase-derived DDE domain of PogZ (PMID:19244240)
• The results reveal POGZ as an essential protein that links HP1alpha dissociation with Aurora B kinase activation during mitosis. (PMID:20562864)
• common LEDGF/p75 interaction interface shared by JPO2, PogZ, MLL1, IWS1 and HIV IN (PMID:26245978)
• Data suggest that loss of function variants in POGZ lead to an identifiable syndrome of neurodevelopmental disorders with specific phenotypic traits including intellectual disability. (PMID:26739615)
• In silico analysis and western blotting revealed this frameshift mutation generating truncated protein in peripheral blood lymphocytes, and this may disrupt several important domains of POGZ gene. Our finding broadens the spectrum of POGZ mutations and may help to understand the molecular basis of Intellectual disability (ID) and aid genetic counseling. (PMID:26763879)
• We find that POGZ is constitutively expressed across most tissues and has significantly higher levels of expression in the cerebellum and the pituitary gland. Disruption of POGZ is associated with intellectual disability and autism spectrum disorders (PMID:26942287)
• the important roles of rare inherited missense variants of POGZ in ASD risk and neuronal development (PMID:31196716)
• De novo likely gene-disrupting variants of POGZ cause autism spectrum disorder (ASD) and intellectual disability. (PMID:31347273)
• Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). (PMID:31782611)
• A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations. (PMID:32359026)
• Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations. (PMID:33277917)
• Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZ(WT/Q1038R) mouse model of autism spectrum disorder. (PMID:33726803)
• Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature. (PMID:34206215)
• Identification of abnormally high expression of POGZ as a new biomarker associated with a poor prognosis in osteosarcoma. (PMID:34474553)
• POGZ promotes homology-directed DNA repair in an HP1-dependent manner. (PMID:34758190)
• Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes. (PMID:34879283)
• Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. (PMID:35052493)
• Loss of POGZ alters neural differentiation of human embryonic stem cells. (PMID:35367590)
• Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome stability regulation via interaction with CHAMP1 and POGZ. (PMID:36658409)
• Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder. (PMID:38350721)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pogz	ENSMUSG00000038902
rattus_norvegicus	Pogz	ENSRNOG00000053599

Paralogs (12): CENPB (ENSG00000125817), TIGD7 (ENSG00000140993), POGK (ENSG00000143157), TIGD6 (ENSG00000164296), TIGD4 (ENSG00000169989), TIGD3 (ENSG00000173825), TIGD5 (ENSG00000179886), TIGD2 (ENSG00000180346), JRKL (ENSG00000183340), TIGD1 (ENSG00000221944), JRK (ENSG00000234616), (ENSG00000293642)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2442117) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 26 distinct phenotype terms.

Mouse phenotype (MP)	Records
liver hypoplasia	1
decreased brain size	1
abnormal somatosensory cortex morphology	1
decreased body weight	1
decreased body size	1
increased grooming behavior	1
abnormal vocalization	1
anemia	1
abnormal associative learning	1
decreased brain weight	1
abnormal response to novel object	1
decreased fetal size	1
abnormal behavior	1
impaired contextual conditioning behavior	1
decreased birth body size	1
ventricular septal defect	1
prenatal lethality, complete penetrance	1
preweaning lethality, complete penetrance	1
embryonic lethality during organogenesis, incomplete penetrance	1
lethality throughout fetal growth and development, incomplete penetrance	1
abnormal behavioral response to light	1
decreased forebrain size	1
increased excitatory postsynaptic current frequency	1
abnormal response to social novelty	1
increased dendritic spine density	1

+1 more (showing top 25).

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
PSMB4	protein-coding	5692
CGN	protein-coding	57530
MIR554	ncRNA	693139
TUFT1	protein-coding	7286
SELENBP1	protein-coding	8991
RFX5-AS1	ncRNA	101927886
PI4KB	protein-coding	5298
RFX5	protein-coding	5993
SNX27	protein-coding	81609

Protein

Protein identifiers

Pogo transposable element with ZNF domain — Q7Z3K3 (reviewed: Q7Z3K3)

Alternative names: Suppressor of hairy wing homolog 5, Zinc finger protein 280E, Zinc finger protein 635

All UniProt accessions (11): A0A0G2JHK5, A0A8V8TQ67, A0A8V8TQQ8, A0AA34QVU4, A6PW30, E9PIR8, E9PJY9, Q7Z3K3, H0YCT3, H7C238, M0R2X2

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in mitotic cell cycle progression and is involved in kinetochore assembly and mitotic sister chromatid cohesion. Probably through its association with CBX5 plays a role in mitotic chromosome segregation by regulating aurora kinase B/AURKB activation and AURKB and CBX5 dissociation from chromosome arms. Promotes the repair of DNA double-strand breaks through the homologous recombination pathway.

Subunit / interactions. Interacts with CBX1, CBX3, MAD2L2 and CHAMP1. Interacts with CBX5; POGZ competes with PXVXL motif-containing proteins such as INCENP and TRIM28 for interaction with CBX5. Interacts (via IBM motif) with PSIP1 isoform 1 (via IBD domain); phosphorylation increases its affinity for PSIP1. Interacts with HDGFL2.

Subcellular location. Nucleus. Chromosome. Cytoplasm.

Post-translational modifications. Phosphorylation increases its interaction with PSIP1.

Disease relevance. Defects in POGZ may be associated with neuropsychiatric disorders such as autism spectrum disorders (ASD), bipolar affective disorders and early dementia onset. ASD are characterized by impairments in reciprocal social interaction and communication as well as restricted and stereotyped patterns of interest and activities. ASD include forms with moderate to severe cognitive impairment and milder forms with higher cognitive ability (Asperger syndrome). White-Sutton syndrome (WHSUS) [MIM:616364] An autosomal dominant syndrome characterized by developmental delay, intellectual disability, hypotonia, behavioral abnormalities, and dysmorphic facial features. Variable features include short stature, microcephaly, strabismus and hearing loss. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (7)

UniProt ID	Names	Canonical?
Q7Z3K3-1	1	yes
Q7Z3K3-2	2
Q7Z3K3-3	3
Q7Z3K3-4	4
Q7Z3K3-5	5, CRA_e
Q7Z3K3-6	6
Q7Z3K3-7	7

RefSeq proteins (6): NP_001181866, NP_001181867, NP_001397789, NP_055915, NP_665739, NP_997054 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004875	DDE_SF_endonuclease_dom	Domain
IPR006600	HTH_CenpB_DNA-bd_dom	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR013087	Zf-C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR050527
IPR057618	Znf_POGZ/Z280C-D-like	Domain
IPR059074	Znf-C2H2_Z280C_D	Domain

Pfam: PF03184, PF03221, PF25414, PF25429

UniProt features (87 total): modified residue 17, sequence conflict 12, zinc finger region 9, cross-link 9, region of interest 8, mutagenesis site 8, compositionally biased region 6, splice variant 6, helix 3, domain 2, sequence variant 2, turn 2, chain 1, coiled-coil region 1, short sequence motif 1

Structure

Experimental structures (PDB)

3 structures by resolution:

PDB	Title	Method	Resolution (Å)
2E72	Solution structure of the zinc finger domain of human KIAA0461	SOLUTION NMR
2N3A	Solution structure of LEDGF/p75 IBD in complex with POGZ peptide (1389-1404)	SOLUTION NMR
6EMP	Solution structure of the LEDGF/p75 IBD - POGZ (aa 1370-1404) complex	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z3K3-F1	58.48	0.09

Human Protein Atlas

Protein class: Predicted intracellular proteins, Plasma proteins, Transcription factors, Zinc-coordinating DNA-binding domains, Disease related genes

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; basal body; cytosol; plasma membrane

Antibody reliability (HPA): IH enhanced · 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 (26)

Type	Positions
Phosphoserine	333, 363, 425, 445, 856, 1338, 1364, 1367, 1373, 1374, 1392, 1396
Phosphothreonine	439, 463, 1368, 1378, 1394
Glycyl lysine isopeptide (lys-gly) (interchain with g-cter in sumo2)	319, 359, 422, 449, 489, 629, 677, 801, 883

Mutagenesis-validated functional residues (8)

Position	Phenotype
817	diminishes interaction with cbx5 and abolishes interaction with cbx1 and cbx5; when associated with a-820; a-833 and a-840.
820	abolishes interaction with cbx1, cbx3 and cbx5; when associated with when associated with a-817; a-833 and a-840.
833	abolishes interaction with cbx1, cbx3 and cbx5; when associated with a-817; a-820 and a-840.
840	abolishes interaction with cbx1, cbx3 and cbx5; when associated with a-817; a-820 and a-833.
1392	loss of phosphorylation. loss of interaction with psip1; when associated with a-1396.
1392	phosphomimetic mutant. significant increase in interaction with psip1; when associated with d-1396.
1396	loss of phosphorylation. loss of interaction with psip1; when associated with a-1392.
1396	phosphomimetic mutant. significant increase in interaction with psip1; when associated with d-1392.

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 549 (showing top): GOBP_CHROMOSOME_ORGANIZATION, GCM_MAP4K4, WANG_CLIM2_TARGETS_UP, HNF3ALPHA_Q6, GCM_GSPT1, CMYB_01, MAZ_Q6, CHX10_01, GGGTGGRR_PAX4_03, FOXD3_01, FREAC3_01, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_SISTER_CHROMATID_COHESION, HFH8_01, FOXJ2_01

GO Biological Process (8): double-strand break repair via homologous recombination (GO:0000724), regulation of DNA-templated transcription (GO:0006355), mitotic sister chromatid cohesion (GO:0007064), cell division (GO:0051301), kinetochore assembly (GO:0051382), DNA repair (GO:0006281), DNA recombination (GO:0006310), DNA damage response (GO:0006974)

GO Molecular Function (7): transcription cis-regulatory region binding (GO:0000976), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), nucleic acid binding (GO:0003676), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), chromosome (GO:0005694)

GO top-level categories

29 GO namespaces:

Category	Terms
cellular anatomical structure	4
DNA metabolic process	2
binding	2
recombinational repair	1
double-strand break repair	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
sister chromatid cohesion	1
cellular process	1
kinetochore organization	1
protein-containing complex assembly	1
membraneless organelle assembly	1
DNA damage response	1
cellular response to stress	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
transcription cis-regulatory region binding	1
regulation of DNA-templated transcription	1
transcription regulator activity	1
transition metal ion binding	1
nucleic acid binding	1
cation binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 8 of 21 annotations. The rest are phylogenetic / computational / electronic (IEA).

8 experimentally-supported GO terms:

GO term	NS	Evidence
double-strand break repair via homologous recombination	BP	mutant phenotype
kinetochore assembly	BP	mutant phenotype
mitotic sister chromatid cohesion	BP	mutant phenotype
chromatin	CC	direct assay
cytoplasm	CC	direct assay
cytosol	CC	direct assay
nucleoplasm	CC	direct assay
nucleus	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 1,188 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POGZ	PSIP1	O75475	537
POGZ	TIGD2	Q4W5G0	529
POGZ	JRKL	Q9Y4A0	521
POGZ	ZNF81	P51508	479
POGZ	MEN1	O00255	472
POGZ	CHAMP1	Q96JM3	468
POGZ	RASIP1	Q5U651	452
POGZ	CBX5	P45973	449
POGZ	CBX1	P23197	433
POGZ	CDCA7L	Q96GN5	425
POGZ	UPF3B	Q9BZI7	423
POGZ	CENPBD1P	B2RD01	422
POGZ	CBX3	Q13185	407
POGZ	CHD4	Q14839	407
POGZ	SP1	P08047	404

IntAct

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

showing 30 of 86 partners by confidence:

Partner	Interaction type	MIscore	Records
BANP	physical association	0.780	21
CBX5	association	0.780	3
DAZAP2	physical association	0.720	8
ZBTB24	physical association	0.720	8
HGS	physical association	0.720	6
NRF1	physical association	0.700	10
RBPMS	physical association	0.700	8
QRICH1	physical association	0.700	7
ZXDC	physical association	0.670	4
FNDC3B	physical association	0.560	6
NFYA	physical association	0.560	6
C10orf55	physical association	0.560	5
GABPB1	physical association	0.560	5
KRTAP6-2	physical association	0.560	5
KRTAP8-1	physical association	0.560	5
RBFOX1	physical association	0.560	5
NFYC	physical association	0.560	4
A1CF	physical association	0.560	3
ACTMAP	physical association	0.560	3
AGR2	physical association	0.560	3
ANKRD10	physical association	0.560	3
AOC1	physical association	0.560	3
ASB13	physical association	0.560	3
ATXN1	physical association	0.560	3
BOLL	physical association	0.560	3
CERCAM	physical association	0.560	3
CRX	physical association	0.560	3
DAB1	physical association	0.560	3
DMXL1	physical association	0.560	3
DTX2	physical association	0.560	3

BioGRID (369 interactions; top human partners by supporting records): CBX3 (Affinity Capture-MS; 10 records), CBX5 (Affinity Capture-MS; 8 records), MAD2L2 (Affinity Capture-MS; 8 records), CBX1 (Affinity Capture-MS; 7 records), CHAMP1 (Affinity Capture-MS; 5 records), CREB1 (Two-hybrid; 4 records), HDGFRP2 (Affinity Capture-MS; 4 records), BANP (Two-hybrid; 3 records), NFYC (Two-hybrid; 3 records), NRF1 (Two-hybrid; 3 records), PARP1 (Proximity Label-MS; 3 records), RBPMS (Two-hybrid; 3 records), RNF2 (Affinity Capture-MS; 3 records), TMEM171 (Affinity Capture-MS; 3 records), ZNF428 (Affinity Capture-MS; 3 records)

SIGNOR signaling

2 signaling interactions:

A	Effect	B	Mechanism
POGZ	“down-regulates activity”	CBX5	binding
POGZ	“up-regulates activity”	AURKB	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 86 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
PPARA activates gene expression	6	12.9×	2e-03

Disease & clinical

Genetic variants

Variant evidence for POGZ: 959 ClinVar records (204 pathogenic / likely pathogenic); 4 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	115
Likely pathogenic	89
Uncertain significance	400
Likely benign	169
Benign	58

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 204 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
373048	NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	16
218149	NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	8
224724	NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	6
280468	NM_015100.4(POGZ):c.2350C>T (p.Arg784Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	5
218146	NM_015100.4(POGZ):c.2321_2324del (p.Ser774fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	4
426598	NM_015100.4(POGZ):c.3022C>T (p.Arg1008Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	4
620444	NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	4
987080	NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	4
451792	NM_015100.4(POGZ):c.1608C>A (p.Tyr536Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
559853	NM_015100.4(POGZ):c.2646_2647del (p.Asn882fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
620406	NM_015100.4(POGZ):c.712C>T (p.Arg238Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
978966	NM_015100.4(POGZ):c.2310C>G (p.Tyr770Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
1032656	NM_015100.4(POGZ):c.2768dup (p.His923fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
1184127	NM_015100.4(POGZ):c.3312del (p.Phe1104fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
1705564	NM_015100.4(POGZ):c.2709del (p.Pro903_Leu904insTer)	Pathogenic	criteria provided, multiple submitters, no conflicts	2

Per-variant reference — Sugi Variant

Explore POGZ’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; 29 predictions of 1,159):

Position(s)	Effect	Δscore	Sites
1:151406465–151406466	acceptor_loss	1.0000	2
1:151406909–151406910	donor_loss	1.0000	5
1:151407024–151407025	acceptor_loss	1.0000	4
1:151408099	donor_loss	1.0000	2
1:151408241–151408242	acceptor_loss	1.0000	3
1:151408243	acceptor_gain	1.0000
1:151408413	donor_gain	1.0000
1:151408692–151408693	donor_loss	1.0000	5
1:151408829–151408830	acceptor_loss	1.0000	5
1:151408834	acceptor_gain	1.0000

AlphaMissense

3,800 missense substitutions predicted likely pathogenic (of 9,223 scored), across 832 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
M790	9	0.998	1.000
M579	9	0.996	1.000
M588	9	0.996	1.000
M510	9	0.988	0.999
M8	9	0.958	0.998
M467	9	0.957	0.999
M830	9	0.950	0.999
M513	9	0.910	0.998
M394	9	0.859	0.982
H512	8	1.000	1.000
H516	8	1.000	1.000
H548	8	1.000	1.000
H583	8	1.000	1.000
H766	8	1.000	1.000
H789	8	1.000	1.000
H794	8	1.000	1.000
H553	8	0.999	1.000
H578	8	0.999	1.000
H608	8	0.999	1.000
H613	8	0.999	1.000

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Disease associations

OMIM: gene MIM:614787 | disease phenotypes: MIM:616364, MIM:160700

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Definitive	Autosomal dominant	5

ClinGen Gene-Disease Validity

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

1 validity classifications:

Disease	Classification	Inheritance
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Definitive	AD

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (8 panels, 6 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

8 panels:

Panel	Rating
DDG2P	green
Fetal anomalies	green
Hypotonic infant	green
Intellectual disability	green
Leukodystrophy, childhood onset	green
Severe microcephaly	green
Clefting	amber
Paediatric disorders	amber

Mondo (11): intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome (MONDO:0014606), intellectual disability (MONDO:0001071), neurodevelopmental disorder (MONDO:0700092), autism spectrum disorder (MONDO:0005258), myopia (MONDO:0001384), hearing loss disorder (MONDO:0005365), hypothyroidism (MONDO:0005420), microcephaly (MONDO:0001149), strabismus (MONDO:0003432), sensorineural hearing loss disorder (MONDO:0020678), obesity disorder (MONDO:0011122)

Orphanet (6): White-Sutton syndrome (Orphanet:468678), Non-syndromic bicoronal craniosynostosis (Orphanet:35099), Obesity due to melanocortin 4 receptor deficiency (Orphanet:71529), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), NON RARE IN EUROPE: Autism (Orphanet:106), NON RARE IN EUROPE: Non rare obesity (Orphanet:521399)

HPO phenotypes

showing 60 of 161 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000054	Micropenis
HP:0000081	Duplicated collecting system
HP:0000154	Wide mouth
HP:0000158	Macroglossia
HP:0000160	Narrow mouth
HP:0000175	Cleft palate
HP:0000193	Bifid uvula
HP:0000194	Open mouth
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000232	Everted lower lip vermilion
HP:0000233	Thin vermilion border
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000272	Malar flattening
HP:0000278	Retrognathia
HP:0000286	Epicanthus
HP:0000297	Facial hypotonia
HP:0000303	Mandibular prognathia
HP:0000307	Pointed chin
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000337	Broad forehead
HP:0000341	Narrow forehead
HP:0000347	Micrognathia
HP:0000356	Abnormality of the outer ear
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000396	Overfolded helix
HP:0000403	Recurrent otitis media
HP:0000407	Sensorineural hearing impairment
HP:0000437	Depressed nasal tip
HP:0000447	Pear-shaped nose
HP:0000455	Broad nasal tip
HP:0000470	Short neck
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000540	Hypermetropia
HP:0000545	Myopia
HP:0000577	Exotropia
HP:0000582	Upslanted palpebral fissure
HP:0000589	Coloboma
HP:0000609	Optic nerve hypoplasia
HP:0000612	Iris coloboma
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000649	Abnormality of visual evoked potentials
HP:0000718	Aggressive behavior
HP:0000722	Compulsive behaviors
HP:0000729	Autistic behavior
HP:0000733	Motor stereotypy

GWAS associations

4 associations:

Study	Trait	p-value
GCST002041_2	Blood trace element (Cu levels)	3e-20
GCST005951_48	Body mass index	4e-9
GCST007269_175	Pulse pressure	4e-8
GCST010397_41	Gut microbiota (bacterial taxa, rank normal transformation method)	2e-6

EFO canonical traits (from GWAS)

4 canonical traits:

EFO ID	Trait name
EFO:0005267	serum copper measurement
EFO:0004340	body mass index
EFO:0005763	pulse pressure measurement
EFO:0007874	gut microbiome measurement

MeSH disease descriptors

7 disease descriptors:

Descriptor	Name	Tree numbers
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
D007037	Hypothyroidism	C19.874.482
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D009216	Myopia	C11.744.636
D065886	Neurodevelopmental Disorders	F03.625
D013285	Strabismus	C10.292.562.887; C11.590.810

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	6
sodium arsenite	affects cotreatment, decreases expression, increases abundance	2
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	2
Acrolein	affects cotreatment, increases expression, increases abundance	2
Arsenic	affects cotreatment, decreases expression, increases abundance	2
Ozone	increases expression, increases abundance, affects cotreatment	2
Cadmium Chloride	increases abundance, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
TAK-243	decreases sumoylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
sodium arsenate	decreases expression	1
beta-lapachone	decreases expression, increases expression	1
arsenite	affects binding, decreases reaction	1
coumarin	affects phosphorylation	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
Irinotecan	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects cotreatment, increases abundance, increases expression	1
Atrazine	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Dexamethasone	affects cotreatment, increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TE85	HAP1 POGZ (-) 1	Cancer cell line	Male
CVCL_TE86	HAP1 POGZ (-) 2	Cancer cell line	Male
CVCL_TE87	HAP1 POGZ (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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

showing 60 of 299 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
NCT04586348	Phase 4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	Phase 4	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,
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
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NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
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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
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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