PCGF2

Summary

PCGF2 (polycomb group ring finger 2, HGNC:12929) is a protein-coding gene on chromosome 17q12, encoding Polycomb group RING finger protein 2 (P35227). Transcriptional repressor.

The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryogenesis, cell cycles, and tumorigenesis. This protein was shown to act as a negative regulator of transcription and has tumor suppressor activity. The expression of this gene was detected in various tumor cells, but is limited in neural organs in normal tissues. Knockout studies in mice suggested that this protein may negatively regulate the expression of different cytokines, chemokines, and chemokine receptors, and thus plays an important role in lymphocyte differentiation and migration, as well as in immune responses.

Source: NCBI Gene 7703 — RefSeq curated summary.

At a glance

• Gene–disease (curated): turnpenny-fry syndrome (Definitive, ClinGen)
• Clinical variants (ClinVar): 235 total — 2 likely-pathogenic
• GTEx eGene: eQTL in 37 tissues, sQTL in 14 (q < 0.05)
• Phenotypes (HPO): 82
• Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.44 (moderately constrained)
• MANE Select transcript: NM_007144

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12929
Approved symbol	PCGF2
Name	polycomb group ring finger 2
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	MEL-18
Ensembl gene	ENSG00000277258
Ensembl biotype	protein_coding
OMIM	600346
Entrez	7703

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 23 protein_coding

MANE Select: ENST00000620225

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

ENST00000620225, ENST00000610747, ENST00000611883, ENST00000616129, ENST00000616199, ENST00000618506, ENST00000618941, ENST00000894201, ENST00000894202, ENST00000894203, ENST00000894204, ENST00000894205, ENST00000894206, ENST00000894207, ENST00000939014, ENST00000939015, ENST00000939016, ENST00000939017, ENST00000939018, ENST00000939019, ENST00000939020, ENST00000939021, ENST00001138691

RefSeq mRNA: 3 — MANE Select: NM_007144 NM_001369614, NM_001369615, NM_007144

CCDS: CCDS32638

Canonical transcript exons

ENST00000610440 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 96.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.7508 / max 879.8990, expressed in 1625 samples.

Highest expression (Bgee): cortical plate, ganglionic eminence, stromal cell of endometrium, ventricular zone, pituitary gland.

Genetic regulation across tissues (GTEx eQTL / sQTL)

PCGF2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 37 tissues and its splicing (sQTL) in 14 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 51 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Skin Sun Exposed Lower leg	eqtl	3.4e-91	+0.87	17:38748486:GC:G
Artery Tibial	eqtl	1.4e-87	+0.96	17:38748486:GC:G
Cells Cultured fibroblasts	eqtl	5.3e-79	+0.94	17:38748486:GC:G
Skin Not Sun Exposed Suprapubic	eqtl	5.9e-60	+0.74	17:38748486:GC:G
Esophagus Mucosa	eqtl	5.2e-59	+0.74	17:38748486:GC:G
Artery Aorta	eqtl	2.1e-55	+0.86	17:38748486:GC:G
Lung	eqtl	7.0e-52	+0.75	17:38748486:GC:G
Nerve Tibial	eqtl	9.7e-33	+0.52	17:38748486:GC:G
Adipose Subcutaneous	eqtl	5.8e-32	+0.51	17:38748486:GC:G
Colon Transverse	eqtl	1.0e-30	+0.66	17:38748486:GC:G
Heart Atrial Appendage	eqtl	6.8e-28	+0.61	17:38748486:GC:G
Pancreas	eqtl	2.4e-27	+0.81	17:38748486:GC:G
Colon Sigmoid	eqtl	3.3e-27	+0.65	17:38748486:GC:G
Esophagus Muscularis	eqtl	2.9e-23	+0.54	17:38748486:GC:G
Brain Cerebellum	eqtl	3.2e-22	-0.71	17:38748486:GC:G
Brain Cerebellar Hemisphere	eqtl	4.4e-22	-0.62	17:38748486:GC:G
Esophagus Gastroesophageal Junction	eqtl	1.9e-20	+0.56	17:38748486:GC:G
Stomach	eqtl	2.3e-19	+0.70	17:38748486:GC:G
Artery Coronary	eqtl	1.2e-18	+0.77	17:38748486:GC:G
Thyroid	eqtl	1.6e-18	+0.40	17:38748486:GC:G

FANTOM5 promoters

showing 10 of 14 alternative TSS:

Promoter ID	TPM avg	Samples expressed
165550	24.4881	1570
165555	2.6683	955
165556	1.5120	808
165541	1.1751	681
165544	0.9306	581
165545	0.7985	493
165549	0.7963	473
165548	0.6954	449
165551	0.6051	352
165552	0.3455	149

Top tissues by expression

showing 100 of 134 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	96.55	gold quality
ganglionic eminence	UBERON:0004023	96.36	gold quality
stromal cell of endometrium	CL:0002255	95.03	gold quality
ventricular zone	UBERON:0003053	95.03	gold quality
pituitary gland	UBERON:0000007	94.17	gold quality
adenohypophysis	UBERON:0002196	93.99	gold quality
metanephros cortex	UBERON:0010533	93.98	gold quality
cortex of kidney	UBERON:0001225	93.22	gold quality
endocervix	UBERON:0000458	92.96	gold quality
adult mammalian kidney	UBERON:0000082	92.34	gold quality
body of uterus	UBERON:0009853	91.88	gold quality
left lobe of thyroid gland	UBERON:0001120	91.70	gold quality
right lobe of thyroid gland	UBERON:0001119	91.69	gold quality
thyroid gland	UBERON:0002046	91.51	gold quality
apex of heart	UBERON:0002098	91.49	gold quality
ascending aorta	UBERON:0001496	91.37	gold quality
thoracic aorta	UBERON:0001515	91.31	gold quality
ectocervix	UBERON:0012249	91.25	gold quality
uterine cervix	UBERON:0000002	91.23	gold quality
right adrenal gland cortex	UBERON:0035827	91.22	gold quality
right ovary	UBERON:0002118	91.19	gold quality
lower esophagus mucosa	UBERON:0035834	91.17	gold quality
right adrenal gland	UBERON:0001233	91.14	gold quality
left adrenal gland cortex	UBERON:0035825	91.06	gold quality
right uterine tube	UBERON:0001302	90.81	gold quality
left adrenal gland	UBERON:0001234	90.78	gold quality
myometrium	UBERON:0001296	90.73	gold quality
ovary	UBERON:0000992	90.71	gold quality
descending thoracic aorta	UBERON:0002345	90.66	gold quality
right coronary artery	UBERON:0001625	90.63	gold quality
left ovary	UBERON:0002119	90.62	gold quality
kidney	UBERON:0002113	90.56	gold quality
left uterine tube	UBERON:0001303	90.43	gold quality
prostate gland	UBERON:0002367	90.29	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.19	gold quality
upper lobe of left lung	UBERON:0008952	90.01	gold quality
cerebellum	UBERON:0002037	90.00	gold quality
cerebellar hemisphere	UBERON:0002245	89.96	gold quality
right lung	UBERON:0002167	89.95	gold quality
omental fat pad	UBERON:0010414	89.95	gold quality
mucosa of stomach	UBERON:0001199	89.93	gold quality
cerebellar cortex	UBERON:0002129	89.91	gold quality
right atrium auricular region	UBERON:0006631	89.61	gold quality
placenta	UBERON:0001987	89.39	gold quality
thoracic mammary gland	UBERON:0005200	89.37	gold quality
fundus of stomach	UBERON:0001160	89.36	gold quality
tibial nerve	UBERON:0001323	89.30	gold quality
fallopian tube	UBERON:0003889	89.22	gold quality
left coronary artery	UBERON:0001626	89.18	gold quality
lower esophagus	UBERON:0013473	88.95	gold quality
lower esophagus muscularis layer	UBERON:0035833	88.94	gold quality
adipose tissue	UBERON:0001013	88.92	gold quality
adrenal gland	UBERON:0002369	88.79	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.70	gold quality
vagina	UBERON:0000996	88.59	gold quality
heart left ventricle	UBERON:0002084	88.44	gold quality
heart	UBERON:0000948	88.25	gold quality
subcutaneous adipose tissue	UBERON:0002190	88.20	gold quality
popliteal artery	UBERON:0002250	88.09	gold quality
tibial artery	UBERON:0007610	88.08	gold quality
lung	UBERON:0002048	87.98	gold quality
body of stomach	UBERON:0001161	87.92	gold quality
mucosa of transverse colon	UBERON:0004991	87.85	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.86	gold quality
esophagus	UBERON:0001043	86.76	gold quality
saliva-secreting gland	UBERON:0001044	86.66	gold quality
minor salivary gland	UBERON:0001830	86.65	gold quality
stomach	UBERON:0000945	86.60	gold quality
islet of Langerhans	UBERON:0000006	86.49	gold quality
muscle layer of sigmoid colon	UBERON:0035805	86.40	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.14	gold quality
spleen	UBERON:0002106	86.14	gold quality
transverse colon	UBERON:0001157	85.88	gold quality
skin of leg	UBERON:0001511	85.81	gold quality
primary visual cortex	UBERON:0002436	85.61	gold quality
small intestine Peyer’s patch	UBERON:0003454	85.52	gold quality
right frontal lobe	UBERON:0002810	85.41	gold quality
gall bladder	UBERON:0002110	85.34	gold quality
zone of skin	UBERON:0000014	85.26	gold quality
pancreas	UBERON:0001264	85.23	gold quality
small intestine	UBERON:0002108	85.08	gold quality
esophagus mucosa	UBERON:0002469	85.04	gold quality
frontal cortex	UBERON:0001870	84.98	gold quality
prefrontal cortex	UBERON:0000451	84.85	gold quality
brain	UBERON:0000955	84.85	gold quality
colon	UBERON:0001155	84.85	gold quality
urinary bladder	UBERON:0001255	84.85	gold quality
hypothalamus	UBERON:0001898	84.79	gold quality
skin of abdomen	UBERON:0001416	84.69	gold quality
intestine	UBERON:0000160	84.46	gold quality
body of pancreas	UBERON:0001150	84.38	gold quality
smooth muscle tissue	UBERON:0001135	84.36	gold quality
anterior cingulate cortex	UBERON:0009835	84.13	gold quality
cerebral cortex	UBERON:0000956	84.12	gold quality
multicellular organism	UBERON:0000468	83.86	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.81	gold quality
superior frontal gyrus	UBERON:0002661	83.49	gold quality
temporal lobe	UBERON:0001871	83.40	gold quality
amygdala	UBERON:0001876	83.30	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	83.13	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.49

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 75 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Pituitary gland	tissue	49.4
Vagina	tissue	27.2
Hypothalamus	tissue	26.1
Cerebellum	tissue	25.2
Olfactory bulb	tissue	24.3
Septum	tissue	21.8
Spinal cord	tissue	21.2
Hippocampal formation	tissue	20.9
Superior colliculi	tissue	20.7
Thalamus	tissue	20.6
Pons	tissue	19.9
Midbrain	tissue	19.8
Medulla oblongata	tissue	19.7
Periaqueductal gray	tissue	19.6
Substantia nigra	tissue	19.3
Ventral forebrain	tissue	19.0
Cerebral cortex	tissue	18.2
Occipital cortex	tissue	18.2
Amygdala	tissue	18.0
Basal ganglia	tissue	17.7
Prefrontal cortex	tissue	17.2
Somatosensory cortex	tissue	17.1
Entorhinal cortex	tissue	17.0
Corpus callosum	tissue	16.9
Motor cortex	tissue	16.7
Putamen	tissue	15.7
Retrosplenial cortex	tissue	15.5
Postcentral gyrus	tissue	15.4
Insular cortex	tissue	15.4
Retrosplenial and cingulate cortex	tissue	15.3
Temporal cortex	tissue	15.3
Choroid plexus	tissue	14.8
Locus coeruleus	tissue	10.5
Hippocampus	tissue	10.1
Frontal cortex	tissue	9.6
Nucleus accumbens	tissue	9.4
Caudate putamen	tissue	9.2
Heart muscle	tissue	8.6
Adrenal gland	tissue	8.5
Salivary gland	tissue	8.0
Kidney	tissue	7.7
Thyroid gland	tissue	6.9
Retina	tissue	6.6
Placenta	tissue	6.3
Spleen	tissue	6.3
Stomach 1	tissue	6.0
Adipose tissue	tissue	5.8
Gallbladder	tissue	5.7
Pancreas	tissue	5.6
Small intestine	tissue	5.5
Prostate	tissue	5.1
Endometrium 1	tissue	4.6
Skeletal muscle	tissue	4.5
Appendix	tissue	4.3
Lung	tissue	4.2
Ovary	tissue	4.0
Esophagus	tissue	3.9
Urinary bladder	tissue	3.8
Duodenum	tissue	3.5
Skin 1	tissue	3.4

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Blood vessel (35.9), Flocculonodular lobe (21.5), Dorsal spinal cord (21.2), Subiculum (20.9), Vermis (20.3).

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets:

Target	Regulation
HOXA7	Activation
ZEB1	Repression
ZEB2	Repression

Upstream regulators (CollecTRI, top): HOXA7, ID1, SPI1

miRNA regulators (miRDB)

Targeting PCGF2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 100 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-6739-5P	99.80	67.87	2806

Functional genomics

gnomAD constraint: pLI 0.997, LOEUF 0.443, missense Z -0.109 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000620225 splits into 3 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
17:38,735,226–38,738,354	227 / 212.9	1.07	no
17:38,738,355–38,738,444	20 / 43.7	0.46	no
17:38,738,445–38,740,402	189 / 219.3	0.86	no

Literature-anchored findings (GeneRIF, showing 28)

• The mouse counterpart of this gene regulates the expression of Th2 cytokines, and plays a critical role in Th2 cell differentiation and Th-2 dependent immune responses. (PMID:11520462)
• The mouse counterpart of this gene regulates the expression of various chemokines and chemokine receptors, which may be important for T cell migration and differentiation. (PMID:11750047)
• The oncogenic role of MEL-18 in human primary breast carcinomas is determined by its capacity to inhibit INK4a/ARF proteins(p16INK4a, p14ARF, or h-TERT) or to induce telomerase activity. (PMID:17145810)
• Our data suggest that Mel-18 regulates Bmi-1 expression during senescence via down-regulation of c-Myc. (PMID:17151361)
• These results suggest that Bmi-1 and Mel-18 may have overlapping functions in cancer cell growth. (PMID:17452456)
• Mel-18 and Bmi-1 may regulate the Akt pathway in breast cancer cells, and that Mel-18 functions as a tumor suppressor by repressing the expression of Bmi-1 and consequently down-regulating Akt activity. (PMID:17545584)
• validated occurrence of an unusual TG 3’ splice site in intron 1 (PMID:17672918)
• Results show that a phosphorylated form of Mel-18 targets the Ring1B histone H2A ubiquitin ligase to chromatin. (PMID:17936708)
• The results of this study strengthen the conclusion that mel-18 functions as an anti-SUMO E3 factor, and extend its targets to include regulation of the sumoylation of the important cellular protein RanGAP1. (PMID:18706886)
• Loss of Mel-18 is associated with prostate cancer. (PMID:19395284)
• Single Nucleotide Polymorphism and down regulation of Mel-18 is associated with prostate cancer. (PMID:19585577)
• An association of Mel18 with emerin was observed in Hutchinson-Gilford progeria syndrome, but not in WT cells. (PMID:19727227)
• BMI1 acts as an oncogene and Mel-18 functions as a tumor suppressor via downregulation of BMI1. (PMID:20170541)
• Mel-18 may serve as a useful marker in prognostic evaluation for patients with breast cancer. (PMID:20444850)
• Our analysis showed correlation between BMI1 and PCGF2 gene’s expression and survival in children with medulloblastoma. (PMID:20717685)
• Mel-18 plays a significant role in the angiogenic function of endothelial cells by regulating endothelial gene expression. (PMID:20801102)
• Decreased Mel-18 and increased Bmi-1 mRNA expression was associated with the carcinogenesis and progression of gastric cancer (PMID:21059209)
• Bmi-1/Mel-18 ratio can be potentially used as a tool for stratifying women at risk of developing breast malignancy. (PMID:21162745)
• these findings provide that Mel-18 is a novel regulator of tumor angiogenesis through regulating HIF-1alpha and its target VEGF expressions mediated by the PTEN/PI3K/Akt pathway, suggesting a new tumor-suppressive role of Mel-18 in human breast cancer. (PMID:21602890)
• PCGF2, a PRC1 gene, played a negative role in the granulocytic differentiation of human APL cells. (PMID:22085718)
• Findings suggest that Mel-18 is a novel negative regulator of breast cancer stem cell (CSC) that inhibits the stem cell population and in vitro and in vivo self-renewal through the inactivation of Wnt-mediated Notch signaling. (PMID:22954590)
• Mel-18 functions as a tumor suppressor by its novel negative control of the epithelial-mesenchymal transition in breast cancer. (PMID:23474752)
• It was therefore concluded that the lower Mel-18 expression might contribute to colorectal cancer development/progression. (PMID:24964959)
• Mel-18 underexpression in luminal breast cancer cells caused ER-alpha downregulation.Its overexpression restored it in triple-negative breast cancer cells. MEL-18 suppressed SUMOylation of the ESR1 transactivators p53 and SP1. (PMID:25822021)
• Suggest a novel role of PCGF2 in arsenic trioxide-mediated degradation of PML-RARA that PCGF2 might act as a negative regulator of UBE2I via direct interaction. (PMID:27030546)
• Low expression of Mel-18 is correlated with gastric cancer. (PMID:27542229)
• AKT-mediated regulation of chromatin ubiquitylation and tumorigenesis through Mel18 phosphorylation. (PMID:33664452)
• SLCO4A1-AS1 triggers the malignant behaviours of melanoma cells via sponging miR-1306-5p to enhance PCGF2. (PMID:35427425)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pcgf2	ENSMUSG00000018537
rattus_norvegicus	Pcgf2	ENSRNOG00000012705
rattus_norvegicus	LOC134479587	ENSRNOG00000076687
rattus_norvegicus	LOC103692755	ENSRNOG00000086586
drosophila_melanogaster	Psc	FBGN0005624
drosophila_melanogaster	Su(z)2	FBGN0265623

Paralogs (7): PCGF1 (ENSG00000115289), RNF2 (ENSG00000121481), PCGF6 (ENSG00000156374), BMI1 (ENSG00000168283), PCGF5 (ENSG00000180628), PCGF3 (ENSG00000185619), RING1 (ENSG00000204227)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:99161) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 27 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal rib morphology	2
cervical vertebral transformation	2
lumbar vertebral transformation	2
thoracic vertebral transformation	2
abnormal supraoccipital bone morphology	1
abnormal exoccipital bone morphology	1
rib fusion	1
abnormal spleen morphology	1
small spleen	1
decreased thymocyte number	1
abnormal testis morphology	1
small testis	1
postnatal growth retardation	1
premature death	1
abnormal axial skeleton morphology	1
vertebral transformation	1
abnormal lumbar vertebrae morphology	1
sacral vertebral transformation	1
abnormal odontoid process morphology	1
decreased lymphocyte cell number	1
abnormal occipital bone morphology	1
abnormal T-helper 2 physiology	1
abnormal sternocostal joint morphology	1
abnormal sternum ossification	1
increased bone mineral content	1

+2 more (showing top 25).

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
Pongo abelii	Q5R8L2	100.0%	Diamond
Felis catus	Q9TST0	99.4%	Diamond
Bos taurus	Q32KX7	99.1%	Diamond
Xenopus tropicalis	Q28H21	98.1%	Diamond
Xenopus laevis	Q4QR06	98.1%	Diamond
Gallus gallus	Q5SDR3	88.3%	Diamond
Danio rerio	Q8JIR0	81.8%	Diamond
Arabidopsis thaliana	Q94AY3	67.1%	Diamond
Caenorhabditis elegans	Q03605	64.0%	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
CISD3	protein-coding	284106
PSMB3	protein-coding	5691
PIP4K2B	protein-coding	8396
TRN-GTT2-5	tRNA	100189176
MIR4726	ncRNA	100616153
MLLT6	protein-coding	4302
MIR4734	ncRNA	100616203
CWC25	protein-coding	54883
EPOP	protein-coding	100170841

Protein

Protein identifiers

Polycomb group RING finger protein 2 — P35227 (reviewed: P35227)

Alternative names: DNA-binding protein Mel-18, RING finger protein 110, Zinc finger protein 144

All UniProt accessions (4): A0A087X0Y6, A0A087X259, P35227, J3KT13

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor. Binds specifically to the DNA sequence 5’-GACTNGACT-3’. Has tumor suppressor activity. May play a role in control of cell proliferation and/or neural cell development. Regulates proliferation of early T progenitor cells by maintaining expression of HES1. Also plays a role in antero-posterior specification of the axial skeleton and negative regulation of the self-renewal activity of hematopoietic stem cells. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A ‘Lys-119’, rendering chromatin heritably changed in its expressibility. Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity.

Subunit / interactions. Exists as both a monomer and homodimer. Component of a PRC1-like complex. Interacts with CBX8, RING1 and RNF2. Interacts with CBX7. Interacts with PHC2.

Subcellular location. Nucleus.

Tissue specificity. Detected in all tissues examined with high expression found in placenta lung and kidney and low expression, in liver, pancreas and skeletal muscle.

Post-translational modifications. Phosphorylated. Homodimer formation is regulated by phosphorylation with only unphosphorylated proteins forming homodimers.

Disease relevance. Turnpenny-Fry syndrome (TPFS) [MIM:618371] A syndrome characterized by facial dysmorphism, intellectual disability, feeding problems, impaired growth, and a range of brain, cardiovascular, and skeletal abnormalities. Craniofacial features include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic ears. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (3): NP_001356543, NP_001356544, NP_009075* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR032443	RAWUL	Domain

Pfam: PF13923, PF16207

UniProt features (12 total): compositionally biased region 3, sequence variant 2, cross-link 2, chain 1, zinc finger region 1, region of interest 1, short sequence motif 1, modified residue 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P35227-F1	75.30	0.51

Human Protein Atlas

Protein class: Predicted intracellular proteins, Disease related genes, Human disease related genes, Congenital malformations, Congenital malformations of the nervous system

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm

Antibody reliability (HPA): IH uncertain · 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 (3)

Type	Positions
Phosphothreonine	344
Glycyl lysine isopeptide (lys-gly) (interchain with g-cter in sumo2)	51, 88

Function

Pathways and Gene Ontology

Reactome pathways

5 curated (TAS) of 16; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

16 pathways:

ID	Pathway	Evidence
R-HSA-3108214	SUMOylation of DNA damage response and repair proteins	curated
R-HSA-4570464	SUMOylation of RNA binding proteins	curated
R-HSA-4551638	SUMOylation of chromatin organization proteins	curated
R-HSA-3899300	SUMOylation of transcription cofactors	curated
R-HSA-8953750	Transcriptional Regulation by E2F6	curated
R-HSA-5619507	Activation of HOX genes during differentiation	—
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis	electronic
R-HSA-1266738	Developmental Biology	—
R-HSA-74160	Gene expression (Transcription)	—
R-HSA-212436	Generic Transcription Pathway	—
R-HSA-392499	Metabolism of proteins	—
R-HSA-597592	Post-translational protein modification	—
R-HSA-73857	RNA Polymerase II Transcription	—
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins	—
R-HSA-2990846	SUMOylation	—
R-HSA-4655427	SUMOylation of DNA methylation proteins	electronic

MSigDB gene sets: 389 (showing top): FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GOLDRATH_IMMUNE_MEMORY, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, SP1_Q2_01, GTGCCTT_MIR506, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC

GO Biological Process (6): negative regulation of transcription by RNA polymerase II (GO:0000122), chromatin remodeling (GO:0006338), DNA-templated transcription (GO:0006351), heterochromatin formation (GO:0031507), negative regulation of DNA-templated transcription (GO:0045892), chromatin organization (GO:0006325)

GO Molecular Function (5): DNA binding (GO:0003677), zinc ion binding (GO:0008270), promoter-specific chromatin binding (GO:1990841), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (7): chromatin (GO:0000785), sex chromatin (GO:0001739), nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear body (GO:0016604), PcG protein complex (GO:0031519), PRC1 complex (GO:0035102)

Reactome top-level categories

9 top-level categories:

Category	Pathways
SUMO E3 ligases SUMOylate target proteins	5
Activation of HOX genes during differentiation	1
Generic Transcription Pathway	1
RNA Polymerase II Transcription	1
Post-translational protein modification	1
SUMOylation	1
Developmental Biology	1
Metabolism of proteins	1
Gene expression (Transcription)	1

GO top-level categories

30 GO namespaces:

Category	Terms
cellular anatomical structure	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
chromatin organization	1
gene expression	1
RNA biosynthetic process	1
cellular component assembly	1
heterochromatin boundary formation	1
negative regulation of gene expression, epigenetic	1
heterochromatin organization	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
cellular component organization	1
nucleic acid binding	1
transition metal ion binding	1
chromatin binding	1
binding	1
cation binding	1
chromosome	1
heterochromatin	1
sex chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
nucleoplasm	1
intracellular membraneless organelle	1
nuclear protein-containing complex	1
nuclear ubiquitin ligase complex	1
PcG protein complex	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 7 of 18 annotations. The rest are phylogenetic / computational / electronic (IEA).

7 experimentally-supported GO terms:

GO term	NS	Evidence
chromatin remodeling	BP	mutant phenotype
negative regulation of transcription by RNA polymerase II	BP	mutant phenotype
PRC1 complex	CC	direct assay
PcG protein complex	CC	direct assay
chromatin	CC	direct assay
nucleoplasm	CC	direct assay
nucleus	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 871 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PCGF2	PHC1	P78364	869
PCGF2	CBX2	Q14781	829
PCGF2	PHC2	Q8IXK0	798
PCGF2	RING1	Q06587	771
PCGF2	CITED2	Q99967	738
PCGF2	H2AC20	Q16777	735
PCGF2	RYBP	Q8N488	735
PCGF2	H2AC19	P20670	734
PCGF2	YAF2	Q8IY57	729
PCGF2	BMI1	P35226	723
PCGF2	R4GMX3	R4GMX3	723
PCGF2	EED	O75530	721
PCGF2	CBX7	O95931	689
PCGF2	CBX8	Q9HC52	688
PCGF2	RNF2	Q99496	687

IntAct

Human interaction partners of PCGF2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 31 partners by confidence:

Partner	Interaction type	MIscore	Records
RNF2	physical association	0.950	9
RING1	physical association	0.940	8
CBX8	direct interaction	0.930	2
PHC1	physical association	0.920	6
PHC2	association	0.890	4
CBX4	association	0.840	7
CBX7	direct interaction	0.840	2
CBX6	direct interaction	0.810	1
CCND2	physical association	0.590	4
USP11	physical association	0.590	4
USP7	physical association	0.590	3
PELI2	physical association	0.560	3
STX2	physical association	0.560	3
TRAF2	physical association	0.560	3
MOV10	physical association	0.500	1
UBC	physical association	0.500	1
E2F6	physical association	0.400	1
ABHD6	physical association	0.370	1
CD247	physical association	0.370	1
CTNNAL1	physical association	0.370	1
GJB5	physical association	0.370	1
HOXC9	physical association	0.370	1
RBCK1	physical association	0.370	1
SPDEF	physical association	0.370	1
UBE2E2	physical association	0.370	1
UBE2Q2	physical association	0.370	1
UBE2T	physical association	0.370	1
UBE2U	physical association	0.370	1
VHL	association	0.350	2
HIF1A	association	0.350	1

BioGRID (246 interactions; top human partners by supporting records): RNF2 (Affinity Capture-MS; 21 records), CBX8 (Affinity Capture-MS; 12 records), RING1 (Two-hybrid; 12 records), PHC1 (Affinity Capture-MS; 11 records), PHC2 (Two-hybrid; 11 records), CBX2 (Affinity Capture-MS; 10 records), RYBP (Affinity Capture-MS; 10 records), CBX4 (Affinity Capture-MS; 9 records), CBX7 (Affinity Capture-MS; 8 records), PHC3 (Affinity Capture-MS; 8 records), YAF2 (Affinity Capture-MS; 8 records), CBX6 (Affinity Capture-MS; 5 records), UBE2I (Affinity Capture-Western; 5 records), AKT1 (Affinity Capture-Western; 4 records), BMI1 (Affinity Capture-MS; 4 records)

SIGNOR signaling

4 signaling interactions:

A	Effect	B	Mechanism
PCGF2	“down-regulates activity”	HSF2	sumoylation
PCGF2	“down-regulates activity”	UBE2I	binding
PCGF2	“form complex”	“Polycomb repressive complex 1”	binding
Ub:E2	“up-regulates activity”	PCGF2	ubiquitination

Protein complexes (CORUM) (5)

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

5 complexes by size:

Complex	Subunits	Members
PRC1.2c complex	11	SCML1, CBX4, PHC2, PHC3, RING1, SCMH1, CBX2, CBX8, PCGF2, PHC1, RNF2
PRC1.2a complex	4	PCGF2, RING1, RNF2, RYBP
PRC1.2b complex	4	PCGF2, RING1, RNF2, YAF2
PCGF2-RING1A complex	2	PCGF2, RING1
PCGF2-RING1B complex	2	PCGF2, RNF2

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 31 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
SUMOylation of DNA methylation proteins	6	155.0×	3e-10
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	7	80.9×	3e-10
SUMOylation of transcription cofactors	7	65.4×	7e-10
SUMOylation of RNA binding proteins	6	54.9×	3e-08
Regulation of PTEN gene transcription	7	48.0×	5e-09
SUMOylation of chromatin organization proteins	7	42.7×	1e-08
SUMOylation of DNA damage response and repair proteins	7	39.4×	1e-08
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	7	39.4×	1e-08

Disease & clinical

Genetic variants

Variant evidence for PCGF2: 235 ClinVar records (2 pathogenic / likely pathogenic). Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	84
Likely benign	98
Benign	15

Top pathogenic / likely-pathogenic (2)

Showing all 2 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
624617	NM_007144.3(PCGF2):c.193C>T (p.Pro65Ser)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	3
1298700	NM_007144.3(PCGF2):c.194C>G (p.Pro65Arg)	Likely pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore PCGF2’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 805):

Position(s)	Effect	Δscore	Sites
17:38735601–38735602	acceptor_loss	1.0000	5
17:38735612	acceptor_gain	1.0000
17:38736171–38736172	acceptor_loss	1.0000	4
17:38738352	donor_loss	1.0000	2
17:38738863	acceptor_loss	1.0000
17:38739254–38739255	acceptor_loss	1.0000	5
17:38739683–38739684	acceptor_loss	1.0000	4
17:38739684	acceptor_gain	1.0000
17:38739690–38739692	acceptor_gain	1.0000	2
17:38740289–38740290	donor_loss	1.0000	2

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

4 prognostic cancer types:

Cancer	Prognostic	p-value
Liver Hepatocellular Carcinoma (validation)	unfavorable	3.6e-05
Head and Neck Squamous Cell Carcinoma (TCGA)	unfavorable	0.000199
Rectum Adenocarcinoma (TCGA)	unfavorable	0.000313
Kidney Renal Clear Cell Carcinoma (validation)	favorable	0.000525

Disease associations

OMIM: gene MIM:600346 | disease phenotypes: MIM:618371

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
turnpenny-fry syndrome	Strong	Autosomal dominant	5

ClinGen Gene-Disease Validity

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

1 validity classifications:

Disease	Classification	Inheritance
turnpenny-fry syndrome	Definitive	AD

Genomics England panels (PanelApp)

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

6 panels:

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

Mondo (2): intellectual disability (MONDO:0001071), turnpenny-fry syndrome (MONDO:0032707)

Orphanet (2): Turnpenny-Fry syndrome (Orphanet:688642), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

showing 60 of 82 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000160	Narrow mouth
HP:0000164	Abnormality of the dentition
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000260	Wide anterior fontanel
HP:0000272	Malar flattening
HP:0000276	Long face
HP:0000297	Facial hypotonia
HP:0000303	Mandibular prognathia
HP:0000337	Broad forehead
HP:0000369	Low-set ears
HP:0000405	Conductive hearing impairment
HP:0000473	Torticollis
HP:0000494	Downslanted palpebral fissures
HP:0000629	Periorbital fullness
HP:0000678	Dental crowding
HP:0000687	Widely spaced teeth
HP:0000689	Dental malocclusion
HP:0000691	Microdontia
HP:0000729	Autistic behavior
HP:0000767	Pectus excavatum
HP:0000768	Pectus carinatum
HP:0000774	Narrow chest
HP:0000879	Short sternum
HP:0000995	Melanocytic nevus
HP:0001054	Numerous nevi
HP:0001181	Adducted thumb
HP:0001182	Tapered finger
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001320	Cerebellar vermis hypoplasia
HP:0001328	Specific learning disability
HP:0001344	Absent speech
HP:0001357	Plagiocephaly
HP:0001382	Joint hypermobility
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001561	Polyhydramnios
HP:0001631	Atrial septal defect
HP:0001634	Mitral valve prolapse
HP:0001643	Patent ductus arteriosus
HP:0001659	Aortic regurgitation
HP:0001704	Tricuspid valve prolapse
HP:0001761	Pes cavus
HP:0001845	Overlapping toe
HP:0002007	Frontal bossing
HP:0002019	Constipation
HP:0002020	Gastroesophageal reflux
HP:0002079	Hypoplasia of the corpus callosum
HP:0002205	Recurrent respiratory infections
HP:0002209	Sparse scalp hair
HP:0002307	Drooling
HP:0002389	Cavum septum pellucidum
HP:0002714	Downturned corners of mouth

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects expression, increases methylation, affects cotreatment	6
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
Cadmium	decreases expression, increases abundance, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
dicrotophos	increases expression	1
trichostatin A	decreases expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dimethylarsinous acid	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
Vorinostat	decreases expression	1
Acetaminophen	decreases expression	1
Cannabidiol	decreases expression	1
Demecolcine	decreases expression	1
Succimer	affects cotreatment, increases expression	1
Formaldehyde	decreases expression	1
Ozone	decreases expression	1
Piroxicam	increases expression	1
Smoke	decreases expression	1
Vincristine	decreases expression	1
Chlorodiphenyl (54% Chlorine)	decreases expression	1
Magnetite Nanoparticles	affects cotreatment, increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_1661	ZR-75-30	Cancer cell line	Female
CVCL_E2G8	HAP1 PCGF2 (-)	Cancer cell line	Male

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
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