Affinage

POGZ

Pogo transposable element with ZNF domain · UniProt Q7Z3K3

Length
1410 aa
Mass
155.3 kDa
Annotated
2026-06-10
48 papers in source corpus 23 papers cited in narrative 23 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

POGZ is a multifunctional nuclear chromatin regulator that couples heterochromatin organization to genome stability, transcriptional control, and neurodevelopment (PMID:20562864, PMID:34879283). It engages HP1α through a non-canonical zinc-finger-like motif that competes with PxVxL ligands, driving HP1α release from mitotic chromosome arms and correct Aurora B activation during M phase (PMID:20562864), and through its transposase-derived DDE domain it binds LEDGF/p75 at the same interface targeted by HIV-1 integrase (PMID:19244240). In DNA repair, POGZ promotes HP1 deposition at double-strand breaks and retains the BRCA1/BARD1 complex there to drive homology-directed repair; its loss delays break resolution and sensitizes cells to cisplatin and PARP inhibition (PMID:34758190). Acting in a complex with CHAMP1, POGZ promotes end resection and BRCA1/CtIP/RPA2 recruitment, counteracting the 53BP1/Shieldin axis (PMID:35393543). As a sequence-specific chromatin factor, POGZ functions as both activator and repressor: it associates with the esBAF/SWI-SNF remodeler to open enhancers and activate neural progenitor and synaptic genes (PMID:34879283, PMID:35650610), yet recruits TRIM28/SETDB1 to silence the 2C program and endogenous retroviruses via H3K9me3/H4K20me3 (PMID:37494184) and operates within the PRC1.6 complex to elicit RING1B-dependent repression of neuronal differentiation programs (PMID:41483451). POGZ also binds the BCL11A locus to silence embryonic β-globin (PMID:29898395) and the OXTR promoter to regulate social behavior (PMID:33726803). POGZ is required for cortical neurogenesis, neuronal migration, and dendritic maturation, and ASD-associated de novo loss-of-function mutations disrupt its DNA binding, localization, and neuronal functions, producing autism- and intellectual-disability-related phenotypes (PMID:27103995, PMID:32103003, PMID:35367590).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2009 High

    Established a direct protein interaction defining POGZ's transposase-derived DDE domain as a functional binding module, revealing it shares the LEDGF/p75 interface used by HIV-1 integrase.

    Evidence In vitro binding, Co-IP, competition assays, and yeast two-hybrid

    PMID:19244240

    Open questions at the time
    • Biological consequence of POGZ-LEDGF/p75 binding not defined
    • No structure of the complex
  2. 2010 High

    Answered how POGZ engages heterochromatin machinery, showing it binds HP1α via a non-canonical zinc-finger-like motif to displace HP1α from mitotic chromosomes and enable Aurora B regulation.

    Evidence Proteomics/Co-IP, RNAi depletion, mitotic progression and Aurora B localization assays

    PMID:20562864

    Open questions at the time
    • Structural basis of the zinc-finger/HP1α interaction not solved
    • How mitotic role links to interphase chromatin functions unclear
  3. 2016 Medium

    Connected ASD-associated mutations to molecular dysfunction by showing they impair POGZ DNA binding to the CENP-B box.

    Evidence In vitro DNA-binding assay with wild-type and mutant proteins

    PMID:27103995

    Open questions at the time
    • Single in vitro method
    • Genomic targets of CENP-B-box binding in vivo not mapped
  4. 2018 High

    Placed POGZ upstream of BCL11A in hemoglobin switching, defining a role in repressing embryonic β-globin.

    Evidence ChIP, conditional KO mouse, shRNA in human erythroblasts, qRT-PCR, flow cytometry

    PMID:29898395

    Open questions at the time
    • Chromatin mechanism at the BCL11A locus not detailed
    • Cofactor requirements at erythroid regulatory regions unknown
  5. 2019 Medium

    Linked POGZ to neuronal morphogenesis by identifying L1CAM as a downstream effector whose reduction rescues neurite defects, and established predominantly nuclear with synaptic localization.

    Evidence Pogz knockdown in primary neurons, rescue experiments, L1cam analysis; IHC and brain fractionation

    PMID:31196716 PMID:31430754

    Open questions at the time
    • Direct vs indirect regulation of L1CAM not resolved
    • Functional role of axonal/synaptic POGZ pool unknown
  6. 2020 Medium

    Defined POGZ as a transcriptional repressor in vivo and tied its loss to cortical/cerebellar transcriptomic and electrophysiological dysfunction and reversible ASD-like behavior.

    Evidence Luciferase reporter, conditional and knock-in mouse models, RNA-seq, Purkinje cell electrophysiology, pharmacological rescue

    PMID:32103003 PMID:33203851

    Open questions at the time
    • Direct vs indirect transcriptional targets not fully separated
    • Mechanism coupling excitability changes to behavior incomplete
  7. 2021 High

    Resolved POGZ's role in genome maintenance, showing it retains BRCA1/BARD1 at breaks in an HP1-dependent manner to drive HDR, and identified ADNP as a chromatin-opening partner for synaptic gene activation.

    Evidence siRNA/laser micro-irradiation, drug sensitivity, CRISPR mouse; ChIP-seq, ATAC-seq, RNA-seq, Co-IP

    PMID:34758190 PMID:34879283

    Open questions at the time
    • How HP1 directs BRCA1/BARD1 retention mechanistically unknown
    • POGZ-ADNP stoichiometry and DNA-sequence specificity unresolved
  8. 2022 High

    Expanded the repair and remodeling roles, showing the CHAMP1-POGZ complex promotes resection against the Shieldin axis and POGZ recruits esBAF/BRG1 to activate neural enhancers.

    Evidence siRNA, recruitment immunofluorescence, PARPi sensitivity; Co-IP, ChIP-seq, ATAC-seq in ESC differentiation

    PMID:35393543 PMID:35650610

    Open questions at the time
    • Order of events linking POGZ-HP1 to resection machinery unclear
    • How POGZ switches between esBAF activation and repressive complexes unknown
  9. 2022 Medium

    Established cell-intrinsic requirements for POGZ in human cortical development and a shared inflammatory/synaptic dysfunction signature with ADNP.

    Evidence CRISPR KO in hESC neural differentiation; AAV regional knockdown, RNA-seq, microglia IHC, electrophysiology

    PMID:35367590 PMID:35775424

    Open questions at the time
    • Direct chromatin targets driving proliferation/migration not pinpointed
    • Cell-autonomous vs microglial contributions to inflammation unresolved
  10. 2023 High

    Defined a retrotransposon-silencing mechanism in which POGZ recruits TRIM28/SETDB1 to deposit H3K9me3/H4K20me3 at Dux and ERV loci, restraining the 2C-like state.

    Evidence Co-IP, ChIP-seq (H3K9me3/H4K20me3), RNA-seq, ATAC-seq in Pogz KO ESCs

    PMID:37494184

    Open questions at the time
    • Sequence determinants of POGZ targeting to ERVs not defined
    • Link between ERV activation and neural gene dysregulation correlative
  11. 2023 Medium

    Positioned POGZ within a pericentromeric mitotic module by identifying CDYL2 as a CHAMP1-POGZ partner required for CHAMP1 localization and genome stability.

    Evidence Mass spectrometry, Co-IP, RNAi rescue, pericentromere immunofluorescence

    PMID:36658409

    Open questions at the time
    • Direct vs CHAMP1-bridged POGZ-CDYL2 contact not distinguished
    • Single lab
  12. 2024 Medium

    Extended POGZ heterochromatin function to replication stress, showing the CHAMP1/POGZ/HP1α/SETDB1 complex protects stalled forks and promotes ORC recruitment, and identified a TGFβ-suppressive role in breast cancer.

    Evidence Co-IP, ChIP, fork protection and ORC recruitment assays (preprint); TNBC loss/gain-of-function, TGFβ reporters, xenografts

    PMID:39137399 PMID:bio_10.1101_2024.09.23.614480

    Open questions at the time
    • Fork-protection findings remain in preprint, not peer-reviewed
    • Mechanism linking POGZ chromatin role to TGFβ signaling unclear
  13. 2024 Medium

    Embedded POGZ in the circadian system, showing DBP drives its rhythmic transcription and POGZ enhances CREB activity for light-induced phase resetting.

    Evidence ISH/IF, ChIP/reporter assays, Co-IP, transcription assays, circadian behavior and c-Fos in Pogz KO mice

    PMID:41842994

    Open questions at the time
    • Whether circadian role uses POGZ chromatin functions unknown
    • Single lab
  14. 2025 Medium

    Identified POGZ as a PRC1.6 component eliciting RING1B-dependent repression of BMP signaling to control neuronal differentiation, and reported additional cancer-context partners (TGM2, MAD2L2).

    Evidence Co-IP, RING1B-dependent repression assays, ChIP-seq co-occupancy, Pogz KO RNA-seq; Co-IP and functional rescue in cervical/thyroid cancer models

    PMID:40071126 PMID:41307447 PMID:41483451

    Open questions at the time
    • How POGZ partitions among PRC1.6, esBAF, and SETDB1 complexes unknown
    • MAD2L2 interaction rests on single low-confidence Co-IP

Open questions

Synthesis pass · forward-looking unresolved questions
  • How POGZ is targeted to specific genomic loci and dynamically partitioned between activating (esBAF) and repressive (PRC1.6, TRIM28/SETDB1) complexes remains unresolved.
  • No structural model of POGZ-chromatin or POGZ-HP1 interactions
  • DNA sequence specificity in vivo unmapped
  • Mechanism selecting activator vs repressor outcomes unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140110 transcription regulator activity 4 GO:0003677 DNA binding 3 GO:0042393 histone binding 1
Localization
GO:0005634 nucleus 3 GO:0005694 chromosome 2
Pathway
R-HSA-1266738 Developmental Biology 3 R-HSA-4839726 Chromatin organization 3 R-HSA-73894 DNA Repair 3 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-1640170 Cell Cycle 2
Partners
ADNPCHAMP1CREBHP1ΑLEDGF/P75RING1BSETDB1TRIM28
Complex memberships
CHAMP1-POGZ-HP1α-SETDB1 complexPRC1.6esBAF/SWI-SNF

Evidence

Reading pass · 23 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2010 POGZ binds HP1α through a zinc-finger-like motif (distinct from the canonical PxVxL motif used by other HP1-binding proteins), competing with PxVxL proteins and destabilizing the HP1α-chromatin interaction. POGZ depletion impairs normal mitotic progression, HP1α dissociation from mitotic chromosome arms, and correct Aurora B kinase activation and dissociation from chromosome arms during M phase. Proteomics/Co-IP identification, depletion experiments (RNAi), cell biology assays of mitotic progression and Aurora B localization Nature cell biology High 20562864
2009 POGZ interacts with LEDGF/p75 through its transposase-derived DDE domain; the DDE domain of POGZ overlaps with the binding site used by HIV-1 integrase on LEDGF/p75, and HIV-1 integrase can displace POGZ from LEDGF/p75 in competition experiments. In vitro binding assays, co-immunoprecipitation, competition experiments, yeast two-hybrid The Journal of biological chemistry High 19244240
2016 ASD-associated de novo mutations in POGZ (Q1042R and R1008X) disrupt its DNA-binding activity toward the CENP-B box sequence in vitro, providing a functional basis for loss-of-function in ASD. In vitro DNA-binding assay using wild-type and mutant POGZ proteins with CENP-B box sequence Journal of molecular psychiatry Medium 27103995
2018 POGZ binds to the Bcl11a promoter and erythroid-specific intragenic regulatory regions; targeted deletion of Pogz in adult hematopoietic cells causes persistence of embryonic β-like globin expression. Knockdown of POGZ in human CD34+ erythroblasts reduces BCL11A expression and increases fetal hemoglobin, placing POGZ upstream of BCL11A in hemoglobin silencing. ChIP (POGZ binding to Bcl11a locus), conditional knockout mouse model, shRNA knockdown in primary human erythroblasts, qRT-PCR, flow cytometry Cell reports High 29898395
2021 POGZ promotes the presence of HP1 at DNA double-strand breaks (DSBs) and is required for homology-directed DNA repair (HDR). Mechanistically, POGZ retains the BRCA1/BARD1 complex at DSBs in an HP1-dependent manner. POGZ depletion delays DSB resolution, sensitizes cells to cisplatin and talazoparib, and CRISPR inactivation of Pogz is embryonically lethal in mice; haploinsufficiency results in radiosensitivity and DSB accumulation in diverse tissues. siRNA depletion, laser micro-irradiation DSB assays, drug sensitivity assays (cisplatin, talazoparib), CRISPR mouse model, immunofluorescence of BRCA1/BARD1 recruitment EMBO reports High 34758190
2022 CHAMP1 forms a complex with POGZ and together they promote DNA end resection for homologous recombination at DSB sites; depletion of either CHAMP1 or POGZ impairs recruitment of phosphorylated RPA2 and CtIP to DSB sites and reduces BRCA1 recruitment, counteracting the 53BP1/REV7-Shieldin inhibitory axis on HR. siRNA depletion, laser micro-irradiation DSB assays, immunofluorescence of RPA2/CtIP/BRCA1 recruitment, PARP inhibitor sensitivity assays Oncogene High 35393543
2021 POGZ physically associates with ADNP in the developing forebrain and co-occupies genomic loci; POGZ promotes chromatin accessibility (open chromatin state) and transcription of clustered synaptic genes in neurons. Loss of Pogz in mice reduces expression of these genes. ChIP-seq (POGZ and ADNP genomic binding), ATAC-seq (chromatin accessibility in Pogz-/- mice), RNA-seq, Co-IP (POGZ-ADNP interaction) Cell reports High 34879283
2020 POGZ functions as a negative regulator of transcription as demonstrated by luciferase reporter assay; Pogz deficiency in conditional brain knockout mice leads to significant upregulation of gene expression in the cerebellum, affecting neurogenesis and synaptic pathway genes, and causes altered Purkinje cell electrophysiology (reduced simple/complex spike firing, increased inhibitory synaptic input amplitude). Luciferase reporter assay, conditional knockout mouse, RNA-seq, electrophysiological recordings of cerebellar Purkinje cells Nature communications High 33203851
2022 POGZ physically associates with the SWI/SNF (esBAF) chromatin remodeler complex in embryonic stem cells; together they modulate enhancer activities via chromatin remodeling and histone modification (H3K27ac). During ESC neural induction, POGZ-mediated recruitment of esBAF/BRG1 and H3K27ac is required for proper expression of neural progenitor genes. Co-immunoprecipitation (POGZ-esBAF), ChIP-seq (POGZ, BRG1, H3K27ac), ATAC-seq, Pogz knockout ESC differentiation assays Molecular autism High 35650610
2023 POGZ silences the 2C transcriptional program and endogenous retroviruses (ERVs) in ESCs by associating with and recruiting TRIM28 and SETDB1; loss of POGZ decreases H3K9me3/H4K20me3 at Dux and ERV loci (IAPEy directly, MERVL indirectly), leading to upregulation of 2C transcripts and ESC transition to a 2C-like state. Activation of POGZ-bound ERVs is associated with upregulation of nearby neural disease genes. Co-immunoprecipitation (POGZ-TRIM28/SETDB1), ChIP-seq (H3K9me3, H4K20me3), RNA-seq, ATAC-seq in Pogz knockout ESCs Cell reports High 37494184
2023 CDYL2 interacts with CHAMP1 and POGZ (identified by mass spectrometry); CDYL2 is required for CHAMP1 localization at pericentromeres and both the CDYL2 chromodomain and the CHAMP1-POGZ interacting region of CDYL2 are required and together sufficient for CDYL2 regulation of mitosis and genome stability. Mass spectrometry of CDYL2-interacting proteins, Co-IP, RNAi rescue assays, immunofluorescence of pericentromeric localization Cellular and molecular life sciences : CMLS Medium 36658409
2019 Two rare inherited missense variants of POGZ influence the cellular localization of POGZ and fail to rescue defects in neurite and dendritic spine development caused by Pogz knockdown in mouse primary cortical neurons; L1CAM is identified as a downstream target of POGZ (reduced by POGZ deficiency), and reduced L1cam expression partially rescues neurite length defects caused by Pogz knockdown. Immunofluorescence (localization of mutant POGZ), Pogz knockdown in primary neurons, neurite/spine morphology assays, L1cam expression analysis, rescue experiments Journal of genetics and genomics = Yi chuan xue bao Medium 31196716
2021 POGZ binds the promoter region of OXTR (oxytocin receptor) and regulates its transcription, as demonstrated by ChIP assay; POGZWT/Q1038R mice show reduced OXTR expression and social behavioral deficits, and intranasal oxytocin administration rescues impaired social behavior. Chromatin immunoprecipitation (ChIP) at OXTR promoter, qRT-PCR of OXTR expression, behavioral assays in knock-in mice, pharmacological rescue Molecular brain Medium 33726803
2020 POGZ is required for normal cortical neuronal development; ASD-related de novo POGZ mutations impair neuronal development in developing mouse brain and iPSC-derived neurons from an ASD patient. The heterozygous POGZWT/Q1038R mouse model exhibits ASD-like social deficits reversible by compensatory inhibition of elevated neuronal excitability. In utero electroporation, iPSC differentiation, knock-in mouse model, behavioral assays, pharmacological rescue of excitability Nature communications Medium 32103003
2022 Pogz deficiency in mouse prefrontal cortex causes upregulation of overlapping pro-inflammatory/neuroinflammatory genes (similar to ADNP deficiency), pro-phagocytic microglial activation, decreased glutamatergic transmission, and decreased postsynaptic protein expression, linking POGZ chromatin regulation to transcriptional and synaptic dysfunction. Viral-based gene transfer (AAV) for prefrontal cortex-specific Adnp/Pogz knockdown, RNA-seq, immunohistochemistry of microglia, electrophysiology of glutamatergic transmission Brain : a journal of neurology Medium 35775424
2024 POGZ suppresses metastasis in triple-negative breast cancer by attenuating TGFβ pathway activation; loss of POGZ potentiates TGFβ signaling, increasing mesenchymal and migratory properties. POGZ knockdown/overexpression in TNBC cell lines, TGFβ pathway reporter and signaling assays, migration/invasion assays, in vivo xenograft models Cancer research Medium 39137399
2024 The CHAMP1 complex (CHAMP1, POGZ, HP1α, and SETDB1) is recruited to stalled replication forks upon replication stress, facilitates H3K9me3 deposition at stalled forks, shields forks from MRE11-mediated degradation, and promotes ORC recruitment to sites of replication stress including telomeric heterochromatin in ALT-positive tumor cells. Co-immunoprecipitation (complex components), ChIP (H3K9me3 at stalled forks), replication stress assays, fork protection assays, ORC2 recruitment immunofluorescence bioRxivpreprint Medium bio_10.1101_2024.09.23.614480
2025 POGZ is a component of the PRC1.6 complex (PRC1.6-POGZ complex); POGZ elicits transcriptional repression dependent on RING1B expression. POGZ colocalizes with RING1B and HP1γ at regulatory genes in embryonic mouse cortical cells. In neuronal progenitor cells, POGZ ablation leads to widespread transcriptomic dysregulation and failed activation of key neuronal genes. PRC1.6-POGZ represses the BMP signaling pathway to regulate neuronal differentiation. Co-immunoprecipitation (POGZ-PRC1.6 components), functional transcriptional repression assays (RING1B-dependent), ChIP-seq data analysis (RING1B, HP1γ, POGZ co-occupancy), Pogz KO in neuronal progenitors, RNA-seq Stem cell reviews and reports Medium 41483451
2025 TGM2 physically interacts with POGZ in the nucleus following ionizing radiation and upregulates POGZ protein levels; TGM2-mediated radioresistance in cervical cancer requires POGZ, as POGZ knockdown reverses the radioresistance and reduction in DSBs caused by TGM2 overexpression, and TGM2 knockdown impairs BRCA1 recruitment to DSB sites (phenocopying POGZ depletion). Co-immunoprecipitation (TGM2-POGZ interaction), siRNA knockdown rescue experiments, BRCA1 recruitment immunofluorescence, clonogenic survival assays, xenograft mouse model Cancer science Medium 41307447
2024 POGZ is expressed in the suprachiasmatic nucleus (SCN) and exhibits circadian oscillations in hypothalamus and liver; its transcription is directly regulated by the circadian molecule DBP through a D-box element in its proximal enhancer. POGZ interacts with and enhances the transcriptional activity of CREB, a key regulator of light-induced phase resetting. Pogz-deficient mice show prolonged circadian period, impaired light-induced phase shift, and reduced SCN c-Fos activation in response to light. In situ hybridization/immunofluorescence (SCN expression), ChIP/reporter assay (DBP-D-box regulation), Co-IP (POGZ-CREB interaction), transcription activity assay, circadian behavioral assays in Pogz KO mice, c-Fos immunostaining JCI insight Medium 41842994
2022 Loss of POGZ in human embryonic stem cells reduces neural stem cell proliferation in excitatory cortex-patterned neural rosettes, reduces generation of intermediate progenitor cells and early-born neurons, perturbs neuronal migration, and results in simplified dendritic architecture in cortical-like excitatory neurons. CRISPR/Cas9 knockout of POGZ in hESCs, neural differentiation, immunofluorescence of proliferation/migration markers, dendritic morphology analysis Molecular and cellular neurosciences Medium 35367590
2019 POGZ protein localizes predominantly to the nucleus in hippocampal neurons but is also detectable in axons, dendrites, and partially at synapses, as confirmed by biochemical fractionation of mouse brain tissue. Immunohistochemistry, immunofluorescence in primary cultured neurons, subcellular biochemical fractionation of mouse brain tissue Developmental neuroscience Medium 31430754
2025 POGZ interacts with MAD2L2 protein as demonstrated by Co-IP assay; POGZ inhibits proliferation and motility of thyroid cancer cells, and silencing MAD2L2 reverses these effects, placing MAD2L2 downstream of POGZ in this pathway. Co-immunoprecipitation (POGZ-MAD2L2), siRNA knockdown, CCK-8/clone formation/Transwell assays, xenograft mouse model 3 Biotech Low 40071126

Source papers

Stage 0 corpus · 48 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2010 Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation. Nature cell biology 218 20562864
2016 Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. American journal of human genetics 129 26942287
2009 Lens epithelium-derived growth factor/p75 interacts with the transposase-derived DDE domain of PogZ. The Journal of biological chemistry 81 19244240
2020 Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes. Nature communications 72 32103003
2015 De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. Cold Spring Harbor molecular case studies 51 27148570
2021 Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes. Cell reports 47 34879283
2020 Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice. Nature communications 46 33203851
2015 A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. Journal of human genetics 41 25694107
2016 A novel de novo POGZ mutation in a patient with intellectual disability. Journal of human genetics 32 26763879
2018 POGZ Is Required for Silencing Mouse Embryonic β-like Hemoglobin and Human Fetal Hemoglobin Expression. Cell reports 29 29898395
2020 Altered hippocampal-prefrontal communication during anxiety-related avoidance in mice deficient for the autism-associated gene Pogz. eLife 28 33155545
2017 Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. American journal of medical genetics. Part A 27 28480548
2022 A convergent mechanism of high risk factors ADNP and POGZ in neurodevelopmental disorders. Brain : a journal of neurology 26 35775424
2016 De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ. Journal of molecular psychiatry 26 27103995
2021 Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZWT/Q1038R mouse model of autism spectrum disorder. Molecular brain 25 33726803
2021 POGZ promotes homology-directed DNA repair in an HP1-dependent manner. EMBO reports 24 34758190
2019 POGZ-related epilepsy: Case report and review of the literature. American journal of medical genetics. Part A 24 31136090
2019 Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development. Journal of genetics and genomics = Yi chuan xue bao 20 31196716
2022 Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. Genes 17 35052493
2022 CHAMP1-POGZ counteracts the inhibitory effect of 53BP1 on homologous recombination and affects PARP inhibitor resistance. Oncogene 17 35393543
2022 Autism-associated protein POGZ controls ESCs and ESC neural induction by association with esBAF. Molecular autism 17 35650610
2023 POGZ suppresses 2C transcriptional program and retrotransposable elements. Cell reports 14 37494184
2020 Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations. Clinical genetics 14 33277917
2019 POGZ de novo missense variants in neuropsychiatric disorders. Molecular genetics & genomic medicine 14 31347273
2019 Expression Analyses of POGZ, A Responsible Gene for Neurodevelopmental Disorders, during Mouse Brain Development. Developmental neuroscience 14 31430754
2022 Loss of POGZ alters neural differentiation of human embryonic stem cells. Molecular and cellular neurosciences 12 35367590
2020 A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations. American journal of medical genetics. Part A 12 32359026
2022 A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. American journal of medical genetics. Part A 8 35396900
2023 Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome stability regulation via interaction with CHAMP1 and POGZ. Cellular and molecular life sciences : CMLS 4 36658409
2021 A case of White-Sutton syndrome arising from a maternally-inherited mutation in POGZ. Psychiatric genetics 4 34133408
2024 Analyses of Conditional Knockout Mice for Pogz, a Gene Responsible for Neurodevelopmental Disorders in Excitatory and Inhibitory Neurons in the Brain. Cells 3 38534384
2024 The Neurodevelopmental Protein POGZ Suppresses Metastasis in Triple-Negative Breast Cancer by Attenuating TGFβ Signaling. Cancer research 3 39137399
2023 Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation. European journal of endocrinology 3 37619992
2022 A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity. The application of clinical genetics 3 35821784
2025 Denovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous families. PloS one 1 39775551
2025 The zinc-finger protein POGZ associates with Polycomb repressive complex 1 to regulate bone morphogenetic protein signaling during neuronal differentiation. bioRxiv : the preprint server for biology 1 39829763
2024 Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder. Journal of medical genetics 1 38350721
2026 The Zinc-Finger Protein POGZ Associates with Polycomb Repressive Complex 1 to Regulate Bone Morphogenetic Protein Signaling During Neuronal Differentiation. Stem cell reviews and reports 0 41483451
2026 Transcriptome analysis of patients with loss-of-function POGZ variants in four unrelated Chinese families. Gene 0 41763504
2026 Reciprocal regulation between autism risk gene POGZ and circadian clock. JCI insight 0 41842994
2026 POGZ variants in neurodevelopmental delay: a case series on phenotype-genotype correlation. Translational pediatrics 0 41982961
2025 Broadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene. Gene 0 39761800
2025 POGZ targeted by LINC01355/miR-27b-3p retards thyroid cancer progression via interplaying with MAD2L2. 3 Biotech 0 40071126
2025 Malignant catatonia in an adolescent with pogo transposable element derived with zinc finger domain (POGZ) gene mutation: case report. BJPsych open 0 40746129
2025 CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling. bioRxiv : the preprint server for biology 0 41279137
2025 TGM2 Regulates Radiosensitivity via POGZ-Mediated Repair of DNA Double-Strand Breaks in Cervical Cancer. Cancer science 0 41307447
2024 Investigation of Pogz Gene Variants in Non-Syndromic Autism Spectrum Disorder. Noro psikiyatri arsivi 0 39258134
2024 A novel nonsense variant in POGZ expanding the spectrum of White-Sutton syndrome: A case report. Heliyon 0 39553561

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