Affinage

SETD5

Histone-lysine N-methyltransferase SETD5 · UniProt Q9C0A6

Length
1442 aa
Mass
157.5 kDa
Annotated
2026-06-10
46 papers in source corpus 16 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/7 claims corpus-supported (86%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SETD5 is a chromatin regulator that couples transcriptional output to histone modification at active genes and developmental loci, with its disruption driving neurodevelopmental disease [PMID:31515109, PMID:bio_10.1101_2025.05.30.657039]. Although it carries a SET domain and deposits H3K36me3 on active gene bodies to support proper RNA elongation, maturation, and splicing (PMID:31515109), a parallel body of work shows SETD5 also acts largely as a scaffold that nucleates HDAC-containing co-repressor assemblies: it co-immunoprecipitates with the PAF1 co-transcriptional complex and the NCoR–HDAC3 co-repressor complex, and its loss raises histone acetylation around transcription start sites (PMID:27864380). Through HDAC3 recruitment it represses target chromatin in multiple contexts — silencing genes to drive MEK-inhibitor resistance in pancreatic cancer (PMID:32442403), removing H4K16ac and the repressor TIP5 at the rDNA promoter to positively control rRNA transcription and translation (PMID:32299058), and holding adipogenic enhancers (Cebpa, Pparg) in a hypoacetylated primed state until APC/C-CDC20 triggers SETD5 proteasomal degradation (PMID:34857762). SETD5 further controls release of promoter-proximal paused RNA Pol II at E2F target genes in cooperation with HCF-1 and PAF1 (PMID:34853439). TBLR1 bridges SETD5 and ANKRD11 into a mammalian SET3C-like assembly within the NCoR complex, and pathogenic SETD5 missense mutations or engineered mutations that block SETD5 incorporation into SET3C cause severe developmental impairment [PMID:bio_10.1101_2025.05.30.657039]; reciprocally, ANKRD11 recruits WDR5 to the Setd5 promoter to drive SETD5 transcription and downstream rRNA synthesis (PMID:40520101). SET-domain-independent activities include regulation of Sema3A expression via the bromodomain protein BRD2 (PMID:29180574). Structure-function dissection shows the SETD5–HDAC3/PAF1 interaction is specifically required for cell survival, whereas proliferation can be supported independently (PMID:36349512).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 2014 Medium

    Established SETD5 as a functionally regulated gene whose expression has cell-biological consequences, providing an early handle on its role before its chromatin mechanism was known.

    Evidence miR-126-5p gain/loss-of-function with target protectors and leucocyte adhesion assays in endothelial cells

    PMID:24562769

    Open questions at the time
    • Does not define a molecular activity for SETD5
    • No chromatin or complex data
  2. 2016 High

    Revealed that SETD5 acts not solely as a methyltransferase but as a regulator of co-transcriptional histone acetylation through physical association with PAF1 and the NCoR–HDAC3 co-repressor complex.

    Evidence Reciprocal Co-IP with PAF1 and NCoR components plus ChIP for histone acetylation in KO mouse embryos and ESCs

    PMID:27864380

    Open questions at the time
    • Did not resolve whether SETD5 has intrinsic catalytic activity
    • Direct vs. indirect recruitment of HDAC complex unresolved
  3. 2018 Medium

    Demonstrated a SET-domain-independent gene-regulatory function, showing SETD5 partners with BRD2 to control a specific developmental target gene.

    Evidence Co-IP of SETD5–BRD2, ChIP at the Sema3a locus, and SET-domain deletion mutant analysis

    PMID:29180574

    Open questions at the time
    • Generality beyond Sema3a unknown
    • Mechanism of BRD2 dependence not resolved
  4. 2019 High

    Provided the strongest evidence that SETD5 directly deposits H3K36me3 on active gene bodies and that its loss impairs RNA elongation, maturation, and splicing, linking the enzyme to transcriptional fidelity in neural development.

    Evidence ChIP-seq, RNA-seq, and genetic KO/haploinsufficiency across neural stem cells, zebrafish, and mice

    PMID:31515109

    Open questions at the time
    • Apparent conflict with reports of absent HMT activity not reconciled
    • Direct vs. indirect contribution to H3K36me3 not fully isolated
  5. 2020 High

    Reframed SETD5 as a catalytically inactive scaffold for an HDAC3/G9a co-repressor complex that silences genes to confer therapeutic resistance, directly challenging the methyltransferase model.

    Evidence In vitro enzymatic assay showing no HMT activity, Co-IP of HDAC3/G9a, and genetic deletion plus pharmacological co-targeting in pancreatic cancer models

    PMID:32442403

    Open questions at the time
    • Does not reconcile with H3K36me3-deposition findings
    • Scope of scaffold vs. enzymatic roles across tissues unclear
  6. 2020 High

    Connected SETD5–HDAC3 recruitment to a defined locus, showing it strips H4K16ac and the repressor TIP5 from the rDNA promoter to positively regulate rRNA transcription, translation, and neural proliferation.

    Evidence Co-IP, ChIP at rDNA promoter, siRNA knockdown, and TIP5-depletion epistasis rescue with ribosome profiling in Setd5+/- mouse brain

    PMID:32299058

    Open questions at the time
    • How SETD5 is targeted to rDNA not defined
    • Link between rDNA control and behavioral phenotypes indirect
  7. 2021 High

    Showed SETD5 protein abundance is itself controlled by APC/C-CDC20-mediated degradation, providing a switch that converts primed hypoacetylated enhancers into active ones during adipogenesis.

    Evidence Co-IP of SETD5–NCoR–HDAC3, ChIP-seq for enhancer acetylation, and degradation assays with APC/C-CDC20 inhibition

    PMID:34857762

    Open questions at the time
    • Degron and ubiquitination sites on SETD5 not mapped
    • Generality of APC/C control beyond adipogenesis unknown
  8. 2021 Medium

    Defined a Pol II pause-release function for SETD5 at E2F targets requiring HCF-1 and PAF1, linking the protein to cell quiescence control in hematopoietic stem cells.

    Evidence Conditional KO, RNA-seq, paused-Pol II ChIP, Co-IP of SETD5–HCF-1–PAF1, and transplantation assays

    PMID:34853439

    Open questions at the time
    • Mechanistic resolution limited
    • Direct vs. indirect role in pause release unresolved
  9. 2021 Medium

    Established a lineage-specific developmental requirement for Setd5 in cardiopharyngeal mesoderm during heart morphogenesis.

    Evidence Conditional Cre-lox deletion with cardiac phenotyping and negative genetic epistasis with Tbx1

    PMID:34050709

    Open questions at the time
    • Molecular mechanism in cardiac lineage not defined
    • Relevant chromatin targets unknown
  10. 2022 Medium

    Dissected SETD5 into separable functions, showing the SETD5–HDAC3/PAF1 interaction is specifically required for cell survival while proliferation can be supported by a truncation mutant lacking it.

    Evidence shRNA knockdown in mouse retinal explants with SET-domain deletion and S1257* truncation mutant rescue

    PMID:36349512

    Open questions at the time
    • Molecular basis of the survival-specific requirement unclear
    • Single organ system
  11. 2023 Medium

    Tied SETD5 to RNA Pol II modification by linking SETD5–Pol II association to OGT-catalyzed O-GlcNAcylation in colorectal cancer.

    Evidence Co-IP of SETD5–Pol II and SETD5–OGT, OGT depletion, and Pol II ChIP at target promoters

    PMID:37963940

    Open questions at the time
    • Causal direction between SETD5 and OGT activity not resolved
    • Single lab, single cancer context
  12. 2023 Low

    Placed SETD5 H3K36me3 writing upstream of an m6A/PKM2 metabolic axis influencing ferroptosis and stemness in lung cancer.

    Evidence m6A-seq, RIP, Co-IP, nuclear fractionation, and KD/OE in vitro and in vivo

    PMID:40307507

    Open questions at the time
    • Complex mechanistic chain claimed in a single paper without independent replication
    • Each step in the cascade not isolated
  13. 2025 Medium

    Identified TBLR1 as the bridge assembling SETD5 and ANKRD11 into a mammalian SET3C-like complex and showed that disrupting SETD5 incorporation causes severe developmental defects, unifying two NDD genes in one assembly.

    Evidence Protein interaction mapping, engineered mouse mutation, and transcriptomics across NDD models (preprint)

    PMID:bio_10.1101_2025.05.30.657039

    Open questions at the time
    • Preprint, not yet peer-reviewed
    • Structural organization of mammalian SET3C not resolved
  14. 2025 Medium

    Established a feedback loop in which ANKRD11 recruits WDR5 to the Setd5 promoter to drive H3K4 methylation, SETD5 transcription, and downstream rRNA synthesis.

    Evidence ChIP of ANKRD11/WDR5/H3K4me at the Setd5 promoter, genetic KD/OE, rRNA and translation assays with SETD5-overexpression rescue

    PMID:40520101

    Open questions at the time
    • Whether this loop operates outside neural cells unknown
    • Single lab
  15. 2025 Medium

    Extended SETD5 methyltransferase activity to a non-histone substrate, showing it methylates nuclear LC3B to suppress autophagy gene transcription via PRDM10.

    Evidence In vitro methylation assay, LC3B K5/K65 mutagenesis, Co-IP, ChIP at ATG promoters, and autophagy flux assays in ovarian cancer cells

    PMID:40497358

    Open questions at the time
    • Reconciliation with reports of absent HMT activity not addressed
    • Single lab, limited replication
  16. 2026 Low

    Demonstrated a non-cell-autonomous disease mechanism in which SETD5-deficient astrocytes secrete IL-6 that harms neurons, rescuable by JAK/STAT inhibition.

    Evidence hiPSC-derived astrocyte KO, conditioned-medium transfer, cytokine measurement, and pharmacological rescue (preprint)

    PMID:41993368

    Open questions at the time
    • Preprint, single lab
    • How SETD5 loss drives IL-6/ROS molecularly not defined

Open questions

Synthesis pass · forward-looking unresolved questions
  • The central unresolved question is reconciling SETD5's reported intrinsic methyltransferase activity (on H3K36 and LC3B) with the in vitro evidence that it lacks HMT activity and acts primarily as an HDAC-complex scaffold.
  • No structural model of the SETD5 SET domain catalytic state
  • Direct vs. scaffold contributions to chromatin marks not cleanly separated
  • Substrate determinants for any catalytic activity undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140104 molecular carrier activity 4 GO:0016740 transferase activity 2 GO:0042393 histone binding 1 GO:0140096 catalytic activity, acting on a protein 1
Localization
GO:0005634 nucleus 4 GO:0005730 nucleolus 1
Pathway
R-HSA-4839726 Chromatin organization 3 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-1266738 Developmental Biology 2 R-HSA-9612973 Autophagy 1
Partners
ANKRD11BRD2G9AHCF-1HDAC3NCORPAF1TBLR1
Complex memberships
NCoR-HDAC3 co-repressor complexPAF1 complexSET3C-like complex (SETD5-TBLR1-ANKRD11)

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2019 SETD5 directly deposits H3K36me3 on active gene bodies genome-wide; Setd5 inactivation in neural stem cells, zebrafish, and mice reduces H3K36me3, impairs RNA elongation dynamics, and causes abnormal transcription with defective RNA maturation and splicing. ChIP-seq, genetic KO/haploinsufficiency in mice and zebrafish, RNA-seq, in vitro assays in neural stem cells Neuron High 31515109
2016 SETD5 co-immunoprecipitates with multiple components of the PAF1 co-transcriptional complex and the HDAC-containing NCoR co-repressor complex; in its absence, histone acetylation is increased at transcription start sites and downstream regions, indicating SETD5 regulates co-transcriptional histone acetylation rather than solely histone methylation. Co-immunoprecipitation, histone modification analysis (ChIP), genetic KO in mouse embryos and ESCs Development (Cambridge, England) High 27864380
2020 SETD5 lacks histone methyltransferase activity but functions as a scaffold for a co-repressor complex containing HDAC3 and G9a; this SETD5 complex silences gene expression to drive adaptive resistance to MEK1/2 inhibition in pancreatic cancer. In vitro enzymatic assay (no HMT activity detected), co-immunoprecipitation, genetic deletion in mouse models and patient-derived xenografts, pharmacological co-targeting Cancer cell High 32442403
2020 SETD5 recruits the HDAC3 complex to the rDNA promoter, resulting in removal of H4K16ac and its reader protein TIP5 (a repressor of rDNA expression), thereby positively regulating rDNA transcription, translational activity, and neural cell proliferation; cyclin D1 mRNA translation is specifically down-regulated in SETD5-insufficient cells, and TIP5 ablation rescues these effects. Co-immunoprecipitation (SETD5–HDAC3), ChIP (H4K16ac, TIP5 at rDNA promoter), siRNA knockdown, rescue by TIP5 depletion, ribosome profiling/translation assays in Setd5+/- mouse brain iScience High 32299058
2021 SETD5 forms a complex with NCoR-HDAC3 that maintains enhancers for Cebpa and Pparg in a hypoacetylated primed state during early adipogenesis; APC/C-mediated ubiquitin-proteasome degradation of SETD5, triggered by CDC20 induction, releases this repression and enables enhancer hyperacetylation and adipogenic gene activation. Co-immunoprecipitation (SETD5–NCoR–HDAC3), ChIP-seq (histone acetylation at enhancers), SETD5 protein degradation assays, genetic/pharmacological inhibition of APC/C-CDC20 Nature communications High 34857762
2021 SETD5 regulates HSC quiescence by mediating release of promoter-proximal paused RNA polymerase II (Pol II) on E2F target genes, and this function requires cooperation with HCF-1 and the PAF1 complex; Setd5-deficient HSCs show disrupted quiescence and exhaustion under transplantation pressure. Conditional KO (Setd5 in hematopoietic system), RNA-seq, ChIP for paused Pol II, Co-IP (SETD5–HCF-1–PAF1), transplantation assays Leukemia Medium 34853439
2018 SETD5 controls Sema3A expression independently of its SET domain and co-immunoprecipitates with the bromodomain protein BRD2; both SETD5 and BRD2 bind to the transcription start site and upstream promoter regions of the Sema3a locus, and BRD2 is required for SETD5-mediated regulation of Sema3A. Co-immunoprecipitation (SETD5–BRD2), ChIP at Sema3a locus, SET-domain deletion mutant analysis, in vitro cell culture with miR-126-5p manipulation Development (Cambridge, England) Medium 29180574
2022 The SET domain of SETD5 is essential for both retinal cell survival and proliferation; a truncation mutant (SETD5S1257*) that cannot interact with HDAC3 and PAF1 complexes rescues proliferation but not apoptosis caused by Setd5 knockdown, indicating the SETD5–HDAC3/PAF1 interaction is specifically required for the pro-survival function. shRNA knockdown in mouse retinal explants, structure-function analysis with SET-domain deletion and S1257* truncation mutants, histology/immunostaining FEBS letters Medium 36349512
2025 SETD5 methylates nuclear LC3B at lysines 5 and 65, causing its nuclear retention; methylated LC3B then binds transcription factor PRDM10 at promoters of ATG genes (ATG2a, ATG7, ATG12, ATG16L1), suppressing their transcription and reducing autophagosome formation in ovarian cancer cells. Co-IP (SETD5–LC3B), in vitro methylation assay, site-directed mutagenesis of LC3B K5/K65, ChIP (LC3B/PRDM10 at ATG promoters), autophagy flux assays FASEB journal Medium 40497358
2023 SETD5 mediates O-GlcNAc transferase (OGT)-catalyzed O-GlcNAcylation of RNA Pol II; SETD5–Pol II interaction weakens in OGT-depleted cells, and SETD5 loss reduces Pol II occupancy at PI3K-AKT pathway genes and CD133 promoters in colorectal cancer cells. Co-IP (SETD5–Pol II, SETD5–OGT), OGT depletion affecting Pol II glycosylation, ChIP (Pol II at gene promoters), KD/OE of SETD5 Scientific reports Medium 37963940
2023 SETD5 as H3K36me3 writer facilitates METTL14-dependent m6A modification and YTHDF1 recruitment to PKM2 mRNA, mediating PKM2 nuclear translocation and phosphorylation (Tyr105), which regulates GPX4-mediated ferroptosis resistance and SOX9-mediated stemness in NSCLC. m6A-seq, RIP, Co-IP, nuclear fractionation, site-specific phosphorylation detection, KD/OE in vitro and in vivo Oncogene Low 40307507
2014 miR-126-5p represses SETD5 expression in endothelial cells; loss of SETD5 repression (via target protectors blocking miR-126-5p/SetD5 mRNA pairing) reduces leucocyte adhesion, identifying SetD5 as a functional target of miR-126-5p that promotes leucocyte adhesion when expressed. Gain- and loss-of-function of miR-126-5p, target protectors (miRNA/mRNA pairing disruption), leucocyte adhesion assays Cardiovascular research Medium 24562769
2025 TBLR1 physically connects SETD5 and ANKRD11 to the NCoR complex, forming an assembly that resembles the yeast SET3 complex (SET3C); pathogenic missense mutations in SETD5 disrupt this assembly; an engineered mutation specifically abolishing SETD5 incorporation into SET3C causes severe developmental impairments in mice; SET3C disruption produces highly correlated gene expression changes including upregulation of highly transcribed genes. Co-IP/protein interaction mapping, engineered mouse mutation, transcriptomics in multiple NDD models bioRxivpreprint Medium bio_10.1101_2025.05.30.657039
2025 ANKRD11 interacts with the Setd5 promoter and recruits WDR5 (a component of the H3K4 methyltransferase complex) to promote H3K4 methylation and SETD5 transcription; ANKRD11-deficient neural cells have reduced H3K4 methylation at the Setd5 promoter, reduced SETD5 expression, and consequently reduced rRNA and translation, which is rescued by SETD5 overexpression. ChIP (ANKRD11/WDR5/H3K4me at Setd5 promoter), genetic KD/OE, rRNA quantification, translation assays iScience Medium 40520101
2021 Setd5 is required in cardiopharyngeal mesoderm for heart development; conditional deletion in this lineage causes failure of heart tube ballooning, leading to double outlet right ventricle and ventricular septal defect; no genetic interaction with Tbx1 was detected. Conditional mutagenesis (Cre-lox), cardiac phenotype analysis, genetic epistasis with Tbx1 (negative result) Genesis (New York, N.Y. : 2000) Medium 34050709
2026 SETD5-deficient human astrocytes (hiPSC-derived) show elevated extracellular IL-6 and ROS; elevated IL-6 exerts non-cell-autonomous harm to healthy neurons; JAK/STAT pathway inhibition restores IL-6 to basal levels and partially rescues astrocyte morphology and neuronal deficits. hiPSC-derived astrocyte KO, conditioned medium transfer to neurons, cytokine measurement, pharmacological JAK/STAT inhibition rescue bioRxivpreprint Low 41993368

Source papers

Stage 0 corpus · 46 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2014 De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. American journal of human genetics 97 24680889
2019 SETD5 Regulates Chromatin Methylation State and Preserves Global Transcriptional Fidelity during Brain Development and Neuronal Wiring. Neuron 87 31515109
2014 Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. European journal of human genetics : EJHG 77 25138099
2020 SETD5-Coordinated Chromatin Reprogramming Regulates Adaptive Resistance to Targeted Pancreatic Cancer Therapy. Cancer cell 71 32442403
2016 Setd5 is essential for mammalian development and the co-transcriptional regulation of histone acetylation. Development (Cambridge, England) 64 27864380
2019 The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy. Genetics in medicine : official journal of the American College of Medical Genetics 52 31474762
2014 miR126-5p repression of ALCAM and SetD5 in endothelial cells regulates leucocyte adhesion and transmigration. Cardiovascular research 46 24562769
2018 miR-126-5p promotes retinal endothelial cell survival through SetD5 regulation in neurons. Development (Cambridge, England) 39 29180574
2018 Genetic variations on SETD5 underlying autistic conditions. Developmental neurobiology 36 29484850
2016 SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression. American journal of medical genetics. Part A 34 27375234
2019 Setd5 haploinsufficiency alters neuronal network connectivity and leads to autistic-like behaviors in mice. Translational psychiatry 33 30655503
2018 Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. Clinical genetics 30 28881385
2020 The Autism-Related Protein SETD5 Controls Neural Cell Proliferation through Epigenetic Regulation of rDNA Expression. iScience 23 32299058
2022 SETD5 Regulates Glycolysis in Breast Cancer Stem-Like Cells and Fuels Tumor Growth. The American journal of pathology 22 35063407
2018 SETD5-AS1 stimulates neuron death in stroke via promoting PTEN expression. European review for medical and pharmacological sciences 21 30280788
2020 SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome. Frontiers in neurology 20 32793091
2021 Spatiotemporal dynamics of SETD5-containing NCoR-HDAC3 complex determines enhancer activation for adipogenesis. Nature communications 17 34857762
2017 De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus. American journal of medical genetics. Part A 17 28905509
2022 Downregulation of SETD5 Suppresses the Tumorigenicity of Hepatocellular Carcinoma Cells. Molecules and cells 15 35950456
2023 Structure, activity and function of the lysine methyltransferase SETD5. Frontiers in endocrinology 14 36875494
2022 CircRNA PTPRM Promotes Non-Small Cell Lung Cancer Progression by Modulating the miR-139-5p/SETD5 Axis. Technology in cancer research & treatment 13 35491723
2021 SETD5 modulates homeostasis of hematopoietic stem cells by mediating RNA Polymerase II pausing in cooperation with HCF-1. Leukemia 12 34853439
2025 SETD5 facilitates stemness and represses ferroptosis via m6A-mediating PKM2 stabilization in non-small cell lung cancer. Oncogene 9 40307507
2017 SETD5 gene variant associated with mild intellectual disability - a case report. Genetics and molecular research : GMR 9 28549204
2023 SETD5 regulates the OGT-catalyzed O-GlcNAcylation of RNA polymerase II, which is involved in the stemness of colorectal cancer cells. Scientific reports 8 37963940
2022 CRISPR/Cas9-Induced Inactivation of the Autism-Risk Gene setd5 Leads to Social Impairments in Zebrafish. International journal of molecular sciences 8 36613611
2021 Setd5 is required in cardiopharyngeal mesoderm for heart development and its haploinsufficiency is associated with outflow tract defects in mouse. Genesis (New York, N.Y. : 2000) 8 34050709
2023 Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes. Frontiers in genetics 6 36685966
2022 Setd5, but not Setd2, is indispensable for retinal cell survival and proliferation. FEBS letters 6 36349512
2024 c-Jun targets miR-451a to regulate HQ-induced inhibition of erythroid differentiation via the BATF/SETD5/ARHGEF3 axis. Toxicology 5 38801936
2019 A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report. Experimental and therapeutic medicine 5 31656537
2025 SF3B4 regulates proliferation and apoptosis in hepatocellular carcinoma via alternative splicing and interaction with TRIM28 and SETD5. Journal of translational medicine 4 40234915
2024 Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 3 39603091
2023 SETD5 haploinsufficiency affects mitochondrial compartment in neural cells. Molecular autism 3 37264456
2025 SETD5-Coordinated LC3B Methylation Inhibits Autophagy in Ovarian Cancer. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2 40497358
2025 KBG syndrome-associated protein ANKRD11 regulates SETD5 expression to modulate rRNA levels and translation. iScience 2 40520101
2025 Two Years of Growth Hormone Therapy in a Child with Severe Short Stature Due to Overlap Syndrome with a Novel SETD5 Gene Mutation: Case Report and Review of the Literature. Genes 2 40869907
2025 A Novel Epilepsy Phenotype in a Young Girl With a Pathogenic SETD5 Gene Variant. Journal of child neurology 1 40462669
2024 Knockdown of SETD5 Inhibits Colorectal Cancer Cell Growth and Stemness by Regulating PI3K/AKT/mTOR Pathway. Biochemical genetics 1 38641699
2024 Shared behavioural impairments in visual perception and place avoidance across different autism models are driven by periaqueductal grey hypoexcitability in Setd5 haploinsufficient mice. PLoS biology 1 38857283
2023 Knockdown of SETD5 inhibited glycolysis and tumor growth in gastric cancer cells by down-regulating Akt signaling pathway. Open life sciences 1 37941780
2026 SETD5 dysfunction in human astrocytes drives IL-6-mediated neuronal impairments via the JAK/STAT signaling pathway. bioRxiv : the preprint server for biology 0 41993368
2025 Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry. Clinical genetics 0 40265665
2025 SETD5 in glioma cells conferred TRAIL resistance induction. Scientific reports 0 41023048
2025 A Case of a Fetus With SETD5 Mutation: Prenatal Phenotype and Literature Review. Birth defects research 0 41368699
2025 Moyamoya syndrome in a patient with pathogenic heterozygous variant in the SETD5 gene: A case report. Brain circulation 0 42111309

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