Affinage

ZBTB18

Zinc finger and BTB domain-containing protein 18 · UniProt Q99592

Length
522 aa
Mass
58.4 kDa
Annotated
2026-06-11
36 papers in source corpus 20 papers cited in narrative 20 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

ZBTB18 (RP58/ZNF238) is a BTB-POZ/C2H2 zinc-finger transcriptional repressor that controls cell-fate decisions across neural, immune, hematopoietic, hepatic, and muscle lineages by binding DNA through its zinc-finger domain to silence lineage- and proliferation-controlling gene programs (PMID:9568537, PMID:22095278, PMID:31112317). In the developing brain it directly represses the proneurogenic genes Ngn2 and NeuroD1 (and regulates Pax6), and its loss causes microencephaly, corpus callosum agenesis, cerebellar hypoplasia, and a shift from neuronal toward glial differentiation (PMID:22095278); it acts as an antiproliferative, pro-differentiation factor that lowers cyclin D1 and raises p27 and neuronal markers (PMID:20103640). Disease-associated missense variants clustered at DNA-contact residues of the zinc fingers alter DNA-binding specificity and transcriptional activity and impair neuronal radial migration, mechanistically tying specific residues to ZBTB18 function (PMID:31112317, PMID:32598555). Repression is achieved through chromatin-modifying partners: ZBTB18 binds CTBP1/2 and LSD1 to scaffold repressive complexes and reduce LSD1 demethylase activity at target promoters, and genome-wide it reduces chromatin accessibility, compacting promoters of metastasis-driving genes such as Tgfbr2 to block TGFβ pathway activation and invasion (PMID:36414381, PMID:36608120). Across other tissues ZBTB18 directly represses class I PI3K regulatory subunits to dampen PI3K signaling and restrain plasma cell differentiation (PMID:33608456), co-represses cKit with p21 to govern hematopoietic stem cell self-renewal (PMID:38721703), and is induced by IL-9 to drive memory B cell development by repressing cyclin/CDK, pro-apoptotic (Bid, Casp3), and the retention receptor S1pr2 genes (PMID:40107273). In glioblastoma ZBTB18 is silenced by promoter methylation and functions as a tumor suppressor whose re-expression reverses the aggressive phenotype (PMID:28512252); calpain cleavage generates a cytoplasmic N-terminal fragment that loses repressor activity and instead, via CTBP1/2, activates HIF1A target genes to promote lipid uptake and metabolic reprogramming (PMID:35800763). In hepatocytes ZBTB18 transcriptionally activates FXR and CLTC to promote fatty acid oxidation and limit NLRP3 inflammasome activity, protecting against NAFLD (PMID:38263084).

Mechanistic history

Synthesis pass · year-by-year structured walk · 19 steps
  1. 1997 Medium

    Establishing ZBTB18 as a neuron-enriched protein with a defined BTB/zinc-finger architecture set the structural basis for its candidacy as a sequence-specific transcriptional regulator.

    Evidence cDNA cloning, sequence analysis, and Northern/in situ expression mapping in brain

    PMID:9568537

    Open questions at the time
    • No DNA target or transcriptional activity demonstrated
    • Functional role inferred only from expression pattern
  2. 2010 Medium

    Loss- and gain-of-function in neural cells answered whether ZBTB18 controls proliferation versus differentiation, defining it as an antiproliferative, pro-differentiation factor.

    Evidence shRNA knockdown in primary granule neuron precursors and overexpression in medulloblastoma/glioblastoma lines with marker readouts and xenograft assay

    PMID:20103640

    Open questions at the time
    • Direct transcriptional targets not identified
    • Mechanism of cyclin D1/p27 regulation not resolved
  3. 2011 High

    ChIP plus conditional knockout identified Ngn2 and NeuroD1 as direct repression targets and established ZBTB18 as required for neuronal differentiation and brain expansion.

    Evidence CNS-specific conditional knockout mouse, ChIP target validation, reporter assays, immunohistochemistry

    PMID:22095278

    Open questions at the time
    • Co-repressor machinery at these promoters not defined
    • Whether Pax6 is a direct vs indirect target unresolved
  4. 2019 High

    Mapping disease variants to zinc-finger DNA-contact residues mechanistically connected specific amino acids to DNA binding, transcriptional output, and in vivo neuronal migration.

    Evidence Structural modeling, EMSA/DNA binding, luciferase reporters, in utero electroporation migration assays

    PMID:31112317

    Open questions at the time
    • Genome-wide target consequences of variants not assessed
    • Effect on co-repressor recruitment not tested
  5. 2020 Medium

    Extending variant analysis to population variants clarified that DNA-contact residue mutations preferentially impair function while non-contact variants are often tolerated, refining genotype-function rules.

    Evidence EMSA/DNA binding and reporter transcriptional assays on multiple variants with structural analysis

    PMID:32598555

    Open questions at the time
    • In vivo phenotypic correlation for population variants lacking
    • Single-lab in vitro assays only
  6. 2020 Medium

    Identifying CtBP2 as a physical partner in glioblastoma began defining the co-repressor complexes through which ZBTB18 acts.

    Evidence Co-immunoprecipitation, colocalization, shRNA knockdown, xenograft model in U-87 MG cells

    PMID:32971103

    Open questions at the time
    • Direct vs bridged interaction not distinguished
    • Target genes of the ZBTB18-CtBP2 complex not mapped
  7. 2021 High

    ChIP-seq in B cells answered how ZBTB18 restrains differentiation, showing it directly represses class I PI3K regulatory subunits to dampen PI3K signaling and block plasma cell differentiation.

    Evidence ChIP-seq, reporter assays, loss-of-function mouse and human B cell differentiation assays, mutant analysis

    PMID:33608456

    Open questions at the time
    • Co-repressor requirement at PI3K loci not defined
    • Upstream signals controlling ZBTB18 levels in B cells unaddressed
  8. 2022 High

    Defining ZBTB18-CTBP1/2-LSD1 complexes at SREBP promoters established a chromatin-modifying mechanism linking ZBTB18 to lipid metabolism in glioblastoma.

    Evidence Co-IP, ChIP with histone mark analysis, glucose tracing/mass spectrometry, metabolic assays

    PMID:36414381

    Open questions at the time
    • Direct vs scaffolding contribution of ZBTB18 to LSD1 activity not fully separated
    • Generality beyond SREBP loci unknown
  9. 2022 Medium

    Discovery of calpain cleavage explained how a repressor can be converted to a metabolic activator, generating a cytoplasmic N-terminal fragment that engages CTBP1/2 and activates HIF1A targets.

    Evidence Mass spectrometry, subcellular fractionation, Co-IP, calpain inhibition, lipid assays

    PMID:35800763

    Open questions at the time
    • Cleavage site and regulation of calpain activation not fully mapped
    • Mechanism of cytoplasmic HIF1A target activation unresolved
  10. 2023 High

    Genome-wide chromatin accessibility profiling showed ZBTB18 enforces widespread chromatin closing, repressing Tgfbr2 and blocking TGFβ-driven metastasis, defining loss of ZBTB18 as a metastasis-enabling event.

    Evidence ATAC-seq, RNA-seq, migration/invasion assays, mouse metastasis models, re-expression

    PMID:36608120

    Open questions at the time
    • How ZBTB18 directs broad chromatin compaction mechanistically not resolved
    • Partner requirements for accessibility changes not defined
  11. 2023 Medium

    Haploinsufficient mice revealed a postnatal role in glutamatergic synapse maturation and cognition beyond developmental patterning.

    Evidence Heterozygous knockout mice, LTP and NMDA electrophysiology, Western blot, spine morphology, behavior

    PMID:36721027

    Open questions at the time
    • Direct synaptic gene targets not identified
    • Cell-autonomy of synaptic deficits not established
  12. 2023 Low

    Clinical genetics extended pathogenic variation into the BTB domain and reported a FOXG1-containing repressive complex, broadening the functional domains and partner set.

    Evidence Whole-exome sequencing and clinical analysis in monozygotic twins

    PMID:38056433

    Open questions at the time
    • FOXG1 complex formation asserted but not mechanistically demonstrated
    • BTB-domain variant pathogenicity from clinical association only
  13. 2024 High

    Hepatic genetic models defined a metabolic-protective program in which ZBTB18 activates FXR and CLTC to drive fatty acid oxidation and limit NLRP3 inflammasome activity.

    Evidence Hepatic-specific knockout/overexpression mice, primary hepatocytes, FXR and CLTC deletion epistasis

    PMID:38263084

    Open questions at the time
    • Whether FXR/CLTC are direct ZBTB18 targets via repression or activation mechanistically reconciled with its repressor role unclear
    • Tissue-specificity of activating function not explained
  14. 2024 Medium

    Identifying a ZBTB18-p21 complex repressing cKit established its role in hematopoietic stem cell self-renewal.

    Evidence Co-IP, p21-tdTomato reporter mouse, shRNA knockdown, HSC transplantation/reconstitution

    PMID:38721703

    Open questions at the time
    • Direct cKit promoter binding by ZBTB18 not shown
    • Single-lab interaction data
  15. 2024 Medium

    Haploinsufficient mice linked ZBTB18 loss to defective DNA repair, mitochondrial damage, and microglial activation driving cognitive decline, reversible by minocycline.

    Evidence Heterozygous knockout mice, DNA damage and mitochondrial markers, microglial assays, transcriptome, behavior, drug intervention

    PMID:39396010

    Open questions at the time
    • Direct transcriptional control of DNA-repair genes not demonstrated
    • Whether microglial phenotype is cell-autonomous vs secondary unclear
  16. 2024 Medium

    ZBTB18 re-expression in glioblastoma was shown to reshape the tumor microenvironment by reducing chemoattractant secretion and shifting microglia toward a pro-inflammatory state.

    Evidence Re-expression in GBM cells, conditioned medium assays, in vivo tumor models, RNA-seq of conditioned microglia

    PMID:39516530

    Open questions at the time
    • Direct cytokine gene targets of ZBTB18 not defined
    • Mechanism linking transcriptional repression to secretome change unresolved
  17. 2025 High

    IL-9 induction of ZBTB18 and ChIP target mapping established a cytokine-driven program enabling germinal center memory B cell exit and survival via repression of cyclin/CDK, pro-apoptotic, and S1pr2 genes.

    Evidence Adoptive transfer, radiation chimeras, conditional B cell knockout, ChIP, expression analysis

    PMID:40107273

    Open questions at the time
    • How IL-9 signaling induces ZBTB18 transcription not detailed
    • Co-repressor machinery at these B cell loci not characterized
  18. 2025 Medium

    Integrating ZBTB18 binding at mammalian-specific cis-regulatory elements with conditional knockout connected ZBTB18 to evolutionarily novel cortical neuron diversity and projection identity.

    Evidence ATAC-seq, RNA-seq, ChIP/CUT&RUN, conditional knockout in excitatory neurons, axonal tracing, cross-species CRE analysis (preprint)

    PMID:bio_10.1101_2025.05.20.652233

    Open questions at the time
    • Preprint not yet peer-reviewed
    • Direct vs indirect control of IT/ET identity genes not fully separated
  19. 2026 Medium

    ATAC-seq/RNA-seq plus functional myogenesis assays extended ZBTB18's repressor role to muscle stem cells, showing repression of STAT1 promotes oxidative myofiber differentiation.

    Evidence ATAC-seq, RNA-seq in bovine MuSCs, proliferation/differentiation assays, ZBTB18 perturbation, STAT1 repression validation

    PMID:42256346

    Open questions at the time
    • Conservation of STAT1 repression in human/mouse muscle untested
    • Co-repressor dependence at STAT1 locus not addressed

Open questions

Synthesis pass · forward-looking unresolved questions
  • How ZBTB18 selects its tissue-specific target repertoire and switches between repressive (full-length, chromatin-compacting) and activating (cleaved/cytoplasmic; hepatic FXR/CLTC) outputs remains the central unresolved mechanistic question.
  • No unified model reconciling repressor activity with reported transcriptional activation of FXR/CLTC
  • Structural basis for partner choice (CTBP1/2, LSD1, FOXG1, p21) across tissues unknown
  • Determinants of context-specific cis-element binding not defined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140110 transcription regulator activity 6 GO:0003677 DNA binding 3
Localization
GO:0005634 nucleus 2 GO:0005829 cytosol 1
Pathway
R-HSA-74160 Gene expression (Transcription) 5 R-HSA-1266738 Developmental Biology 3 R-HSA-1430728 Metabolism 3 R-HSA-1643685 Disease 2 R-HSA-168256 Immune System 2
Partners
CDKN1ACTBP1CTBP2FOXG1LSD1ZNF217

Evidence

Reading pass · 20 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1997 ZBTB18 (C2H2-171) encodes a protein with an N-terminal POZ/BTB domain and four C-terminal C2H2 zinc finger domains, is preferentially expressed in brain neurons (highest in cerebellum), and maps to human chromosome 1q44-ter. cDNA cloning, sequence analysis, Northern blotting, in situ hybridization International journal of developmental neuroscience Medium 9568537
2010 ZNF238/ZBTB18 is highly expressed in postmitotic cerebellar granule neurons and differentiated neurons; knockdown in mouse granule neuron precursors (GNPs) decreases MAP2, NeuN, and p27 expression, while re-introduction in medulloblastoma and glioblastoma cells decreases cyclin D1, increases MAP2 and p27, reduces proliferation, and promotes cell death, demonstrating an antiproliferative/pro-differentiation function in neural cells. shRNA knockdown in primary GNPs, overexpression in MB/GBM cell lines, Western blotting, in vivo xenograft tumor suppression assay Cancer research Medium 20103640
2011 RP58/ZBTB18 acts as a transcriptional repressor of proneurogenic genes pax6, ngn2, and neuroD1 (ngn2 and neuroD1 being direct targets), and its CNS-specific conditional knockout causes microencephaly, corpus callosum agenesis, cerebellar hypoplasia, reduced neuronal differentiation, and increased glial differentiation, demonstrating a required role in neuronal differentiation and brain expansion. Conditional knockout mouse (CNS-specific), chromatin immunoprecipitation (direct target validation), reporter assays, immunohistochemistry Cell death and differentiation High 22095278
2017 ZBTB18 is silenced in the mesenchymal subtype of glioblastoma through aberrant promoter methylation; loss of ZBTB18 contributes to aggressive GBM phenotype, and restitution of ZBTB18 expression reverses this phenotype and impairs tumor-forming ability, establishing ZBTB18 as a tumor suppressor regulated epigenetically. Promoter methylation analysis, ZBTB18 re-expression in GBM cells, gene expression profiling, functional assays (proliferation, invasion) Molecular cancer research : MCR Medium 28512252
2019 Disease-associated missense mutations in ZBTB18 (N461S, R495G, and others) that map to DNA-contact residues within the zinc-finger domain alter DNA-binding specificity and transcriptional regulatory activity in vitro, and impair radial migration of newborn neurons in vivo, linking specific zinc-finger residues to DNA contact and neuronal migration. In silico structural modeling, luciferase reporter transcriptional assays, EMSA/DNA binding assays, in utero electroporation for neuronal migration in vivo Human mutation High 31112317
2020 General population ZBTB18 missense variants within the zinc-finger domain alter DNA-binding specificity and transcriptional activity; variants mapping to DNA-contact residues more frequently impair function, whereas variants at non-contact residues are more likely to have negligible functional impact. EMSA/DNA binding assays, luciferase reporter transcriptional assays, structural analysis Human mutation Medium 32598555
2020 CtBP2 physically interacts with ZBTB18 in GBM cells (U-87 MG), and this interaction influences cell proliferation, apoptosis, EMT, and SHH-GLI1 pathway activity in GBM. Co-immunoprecipitation, immunofluorescence colocalization, shRNA knockdown, xenograft tumor model Life sciences Medium 32971103
2021 ZBTB18 directly binds enhancer/promoter regions of genes encoding class I PI3K regulatory subunits (reducing their expression), dampens PI3K signaling, and suppresses plasma cell differentiation in B cells; disease-associated ZBTB18 mutants lose this suppressor activity. ChIP-seq, reporter assays, B cell functional differentiation assays, loss-of-function mouse model, human B cell validation Journal of immunology High 33608456
2022 ZBTB18 interacts with co-activator/co-repressor CTBP1/2 and LSD1 at SREBP gene promoters; ZBTB18 binding is associated with reduced LSD1 demethylase activity (H3K4me2 and H3K9me2) and promotes LSD1 scaffolding with ZNF217, thereby inhibiting SREBP-dependent lipid synthesis in glioblastoma. Co-immunoprecipitation, ChIP, metabolic assays, glucose tracing/mass spectrometry, gene expression analysis Life science alliance High 36414381
2022 In glioblastoma, calpain protease cleaves ZBTB18, generating an N-terminal fragment that localizes to the cytoplasm (unable to repress transcription); this cytoplasmic N-terminal fragment interacts with CTBP1/2 and activates HIF1A-regulated genes, leading to increased lipid uptake, lipid droplet accumulation, and enhanced metabolic activity. Mass spectrometry, subcellular fractionation, co-immunoprecipitation, calpain inhibitor treatment, gene expression analysis, lipid assays iScience Medium 35800763
2023 ZBTB18 acts as a transcriptional repressor that reduces chromatin accessibility at promoters of metastasis-driving genes (e.g., Tgfbr2), preventing TGFβ1 pathway activation, reducing cell migration and invasion, and inducing widespread chromatin closing; loss of ZBTB18 activity defines metastasis-competent cancer cells. ATAC-seq (chromatin accessibility), RNA-seq, cell migration/invasion assays, mouse metastasis models, ZBTB18 re-expression Science advances High 36608120
2023 ZBTB18/RP58 haploinsufficiency in heterozygous knockout mice causes glutamatergic synaptic dysfunction, including reduced glutamate receptor expression, altered NMDA receptor-mediated synaptic responses, decreased LTP saturation, and altered thick-spine morphology, alongside corpus callosum dysplasia and behavioral/cognitive deficits. Heterozygous knockout mouse, electrophysiology (LTP, NMDA currents), Western blotting, spine morphology analysis, behavioral testing Molecular psychiatry Medium 36721027
2024 Hepatic ZBTB18 transcriptionally activates FXR (Farnesoid X receptor) to promote fatty acid oxidation and transcriptionally activates Clathrin Heavy Chain (CLTC) to inhibit NLRP3 inflammasome activity; hepatic ZBTB18 knockout promotes NAFLD features and insulin resistance, while overexpression alleviates hepatosteatosis. Hepatic-specific knockout and overexpression in mice, primary hepatocyte cultures, FXR deletion and forced expression, CLTC deletion, in vitro and in vivo mechanistic assays Signal transduction and targeted therapy High 38263084
2024 ZBTB18 physically interacts with p21 to co-repress expression of cKit in hematopoietic stem cells (HSCs), regulating HSC self-renewal; Zbtb18 knockdown significantly impairs HSC reconstitution capability. Co-immunoprecipitation, p21-tdTomato reporter mouse, shRNA knockdown, HSC transplantation/reconstitution assay Protein & cell Medium 38721703
2024 ZBTB18 haploinsufficiency in mice leads to defective DNA repair, DNA and mitochondrial damage accumulation, and activated microglia in the dentate gyrus, contributing to early cognitive decline; these phenotypes are attenuated by minocycline treatment. Zbtb18 heterozygous knockout mice, DNA damage markers, mitochondrial morphology analysis, microglial activation assay, transcriptome analysis, behavioral testing, minocycline intervention Journal of neuroinflammation Medium 39396010
2024 ZBTB18 regulates cytokine production in glioblastoma cells, impairing secretion of chemoattractants for glioma-associated macrophages/microglia (GAMs); ZBTB18 expression in GBM cells reduces GAM migration and alters microglia commitment from immunosuppressive to pro-inflammatory phenotype in vivo. ZBTB18 re-expression in GBM cells, conditioned medium assays, in vivo tumor models, RNA-seq of conditioned microglia Communications biology Medium 39516530
2025 T cell-derived IL-9 induces ZBTB18 expression in germinal center (GC) memory precursor B cells; ZBTB18 is required for GC-derived memory B cell development and directly represses cyclin and CDK genes, pro-apoptotic genes Bid and Casp3, and the GC-retaining receptor S1pr2, enabling memory B cell exit and survival. Adoptive transfer, radiation chimera models, conditional ZBTB18 knockout in B cells, ChIP, gene expression analysis Immunity High 40107273
2025 ZBTB18 binds mammalian-specific cis-regulatory elements (CREs) associated with intratelencephalic (IT) and extratelencephalic (ET) neuron identity genes; deletion of Zbtb18 in mouse excitatory neurons dysregulates target gene expression, reduces neuronal molecular diversity, diminishes corticospinal and callosal projections, and increases intrahemispheric association projections, resembling non-mammalian dorsal pallium organization. ATAC-seq, RNA-seq, ChIP/CUT&RUN for ZBTB18 binding, conditional Zbtb18 knockout in excitatory neurons, axonal projection tracing, cross-species CRE conservation analysis bioRxivpreprint Medium bio_10.1101_2025.05.20.652233
2023 ZBTB18 forms a transcriptional repressive complex with FOXG1 involved in neuronal differentiation; missense variants within the BTB domain (in addition to the zinc finger domain) can be pathogenic, expanding the known domain regions where mutations disrupt ZBTB18 function. Whole-exome sequencing, clinical genetic analysis; BTB domain variant identified in monozygotic twins Cytogenetic and genome research Low 38056433
2026 ZBTB18 inhibits muscle stem cell (MuSC) proliferation and promotes myogenic differentiation with a bias toward oxidative myofiber formation by acting as a transcriptional repressor of STAT1. ATAC-seq, RNA-seq in bovine MuSCs, functional proliferation/differentiation assays, ZBTB18 overexpression/knockdown, ChIP or reporter assay for STAT1 repression Food chemistry. Molecular sciences Medium 42256346

Source papers

Stage 0 corpus · 36 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2017 Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Human genetics 68 28283832
2011 RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion. Cell death and differentiation 66 22095278
2013 A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. European journal of human genetics : EJHG 43 24193349
2010 ZNF238 is expressed in postmitotic brain cells and inhibits brain tumor growth. Cancer research 43 20103640
2017 Epigenetic Regulation of ZBTB18 Promotes Glioblastoma Progression. Molecular cancer research : MCR 34 28512252
2015 Differential expression of id genes and their potential regulator znf238 in zebrafish adult neural progenitor cells and neurons suggests distinct functions in adult neurogenesis. Gene expression patterns : GEP 30 26107416
2016 Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. Clinical genetics 29 27598823
2013 Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions. American journal of medical genetics. Part A 27 23494996
2018 Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. Molecular genetics & genomic medicine 24 29573576
2024 Hepatic Zbtb18 (Zinc Finger and BTB Domain Containing 18) alleviates hepatic steatohepatitis via FXR (Farnesoid X Receptor). Signal transduction and targeted therapy 23 38263084
2021 CircTP63 promotes hepatocellular carcinoma progression by sponging miR-155-5p and upregulating ZBTB18. Cancer cell international 19 33685441
1997 C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 17 9568537
2023 ZBTB18 restricts chromatin accessibility and prevents transcriptional adaptations that drive metastasis. Science advances 15 36608120
2019 Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex. Human mutation 15 31112317
2022 ZBTB18 inhibits SREBP-dependent lipid synthesis by halting CTBPs and LSD1 activity in glioblastoma. Life science alliance 13 36414381
2025 An interleukin-9-ZBTB18 axis promotes germinal center development of memory B cells. Immunity 12 40107273
2022 Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease. Journal of neurochemistry 10 35083747
2021 Identification of ZBTB18 as a novel colorectal tumor suppressor gene through genome-wide promoter hypermethylation analysis. Clinical epigenetics 9 33892786
2022 Calpain-mediated cleavage generates a ZBTB18 N-terminal product that regulates HIF1A signaling and glioblastoma metabolism. iScience 8 35800763
2020 General population ZBTB18 missense variants influence DNA binding and transcriptional regulation. Human mutation 8 32598555
2020 CtBP2 interacts with ZBTB18 to promote malignancy of glioblastoma. Life sciences 8 32971103
2024 ZBTB18 regulates cytokine expression and affects microglia/macrophage recruitment and commitment in glioblastoma. Communications biology 6 39516530
2017 A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female. American journal of medical genetics. Part A 6 28345786
2021 The Zinc Finger Protein Zbtb18 Represses Expression of Class I Phosphatidylinositol 3-Kinase Subunits and Inhibits Plasma Cell Differentiation. Journal of immunology (Baltimore, Md. : 1950) 5 33608456
2021 Structure-Based Approaches to Classify the Functional Impact of ZBTB18 Missense Variants in Health and Disease. ACS chemical neuroscience 5 33621064
2024 p21/Zbtb18 repress the expression of cKit to regulate the self-renewal of hematopoietic stem cells. Protein & cell 4 38721703
2023 The mouse model of intellectual disability by ZBTB18/RP58 haploinsufficiency shows cognitive dysfunction with synaptic impairment. Molecular psychiatry 4 36721027
2024 Minocycline prevents early age-related cognitive decline in a mouse model of intellectual disability caused by ZBTB18/RP58 haploinsufficiency. Journal of neuroinflammation 3 39396010
2023 Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders. Cytogenetic and genome research 2 38056433
2024 A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review. Medicine 1 38215144
2023 A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability. Neurogenetics 1 37525067
2022 [Analysis of clinical features and ZBTB18 gene variant in a child with autosomal dominant mental disorder type 22]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 35315038
2021 Prenatal diagnosis of a likely pathogenic variant in ZBTB18: Natural evolution of fetal phenotype including the long bones and corpus callosum. American journal of medical genetics. Part A 1 34907638
2026 Identification of De Novo ZBTB18 Variant in a Patient With Global Developmental Delay, Seizures, and Juvenile Facies. International journal of pediatrics 0 42183389
2026 ZBTB18-mediated STAT1 transcriptional repression contributes to bovine myogenesis, implying an association with oxidative myofiber formation and beef eating quality. Food chemistry. Molecular sciences 0 42256346
2025 IL-9 and ZBTB18 are germinal center memory makers. Immunity 0 40203804

Missed literature

Know a paper Affinage missed for ZBTB18? Flag it for the maintainers and the community.

No submissions yet.