Affinage

ANK3

Ankyrin-3 · UniProt Q12955

Length
4377 aa
Mass
480.4 kDa
Annotated
2026-06-09
67 papers in source corpus 18 papers cited in narrative 17 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

ANK3 encodes ankyrin-G, a modular scaffolding protein (N-terminal ankyrin-repeat domain, central spectrin-binding domain, C-terminal regulatory domain) whose ankyrin-repeat domain is required for polarized membrane targeting and whose spectrin-binding ZU5 motif mediates β-spectrin association (PMID:7615634, PMID:26024478). Through these domains it tethers membrane proteins to the spectrin cytoskeleton in a tissue- and isoform-specific manner: larger isoforms organize Na-K-ATPase in renal distal tubule epithelia (PMID:9458832), and a cardiac-specific isoform co-localizes with NaV1.5 at the intercalated disc and Z-line (PMID:26024478). In neurons, ankyrin-G forms perisynaptic nanodomains within dendritic spines that modulate spine morphology, AMPAR-mediated transmission, and NMDAR-dependent plasticity (PMID:25374361), and loss of function in forebrain pyramidal neurons reduces dendritic arborization and spine density through GSK3β- and adenylate-cyclase-dependent pathways rescuable by lithium (PMID:36376465). It stabilizes inhibitory synapses via direct interaction with GABARAP; the bipolar-disorder-associated variant p.W1989R disrupts this interaction, producing GABAergic deficits and pyramidal-neuron hyperexcitability reversible by lithium acting through GSK3β (PMID:40849089, PMID:37961630). Isoform diversity tunes neuron-type-specific function: an Ank3-1b isoform sets parvalbumin interneuron firing threshold and its deletion causes absence epilepsy and disrupted sleep (PMID:38123552), while a conserved microexon E35a, included in GABAergic but skipped in glutamatergic neurons, links ankyrin-G to InsP3R-dependent intracellular Ca2+ signaling to control interneuron excitability (PMID:41688438). Beyond the nervous system, ankyrin-G acts downstream of Foxj1 to mediate ependymal progenitor lateral adhesion sustaining the adult neurogenic niche (PMID:21745638), is required for optic fissure morphogenesis (PMID:35034853), and suppresses hepatocellular carcinoma metastasis by binding E-cadherin through its ankyrin-repeat domain to restrain Wnt signaling (PMID:41198552). Human loss-of-function disrupting ANK3 causes intellectual disability, ADHD, autism, and sleep problems (PMID:23390136).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 1995 High

    Established the modular domain architecture of ankyrin-G and showed that the ankyrin-repeat domain, not the rest of the protein, drives polarized membrane targeting — defining the structural basis of its scaffolding function.

    Evidence cDNA cloning, isoform immunolocalization in epithelial cells

    PMID:7615634

    Open questions at the time
    • Did not identify the membrane partners engaged by each domain
    • Mechanism of repeat-domain targeting not resolved at the binding level
  2. 1998 High

    Showed that distinct ANK3 spliceoforms partition between renal tubule segments and that the larger isoforms organize Na-K-ATPase, demonstrating isoform-specific tethering of membrane transporters to the spectrin skeleton.

    Evidence Tubule fractionation, isoform immunoblotting, replication in LLC-PK1/MDCK cells

    PMID:9458832

    Open questions at the time
    • Direct binding stoichiometry to Na-K-ATPase not quantified
    • Functional consequence for transport activity inferred, not measured
  3. 2011 High

    Placed Ank3 in a Foxj1-controlled transcriptional pathway required for ependymal progenitor lateral adhesion, revealing a non-neuronal role in sustaining the adult neurogenic niche.

    Evidence Foxj1 conditional knockout, in vivo neurogenesis assays, inducible ependymal deletion

    PMID:21745638

    Open questions at the time
    • Adhesion partners engaged by Ank3 in ependyma not identified
    • Whether the cytoskeletal mechanism mirrors that in neurons unknown
  4. 2012 High

    Demonstrated that region-specific Ank3 reduction in dentate gyrus and heterozygous loss alter stress reactivity and anxiety/reward behaviors reversibly by lithium, linking the gene to mood-disorder-relevant circuits.

    Evidence Hippocampal viral RNAi, heterozygous KO mouse, behavioral battery, corticosterone assay, lithium treatment

    PMID:23237312

    Open questions at the time
    • Molecular target of lithium rescue not defined in this study
    • Cellular mechanism connecting Ank3 to HPA-axis output unresolved
  5. 2013 Medium

    Established that human ANK3 loss of function causes a neurodevelopmental disorder, with memory defects on ortholog knockdown, providing causal genetic evidence for a cognitive role.

    Evidence Human translocation/frameshift genetics, Drosophila unc-44 RNAi with memory assays

    PMID:23390136

    Open questions at the time
    • Single family for the recessive allele
    • Cellular pathology underlying the cognitive phenotype not characterized
  6. 2014 High

    Resolved ankyrin-G into discrete nanodomains within dendritic spines that act as perisynaptic scaffolds/barriers regulating AMPAR transmission and NMDAR-dependent plasticity, extending its scaffolding role to excitatory synapses.

    Evidence STORM/PALM superresolution, shRNA knockdown, mEPSC electrophysiology, spine morphometry

    PMID:25374361

    Open questions at the time
    • Synaptic binding partners within the nanodomain not enumerated
    • How activity drives subdomain accumulation mechanistically unclear
  7. 2015 Medium

    Linked specific minor ANK3 isoforms and their splicing/expression regulation to bipolar disorder and schizophrenia risk, indicating that isoform dosage rather than total ANK3 loss drives psychiatric risk.

    Evidence Exome genotyping with case-control association and replication, splice-junction qPCR, BrainSpan analysis; later confirmed by PacBio TSS mapping and cis-eQTL in a Norwegian cohort

    PMID:26682468 PMID:30297702

    Open questions at the time
    • Functional protein consequence of the risk isoform not established
    • Causal cell type and circuit for isoform effect unknown
  8. 2015 High

    Defined cardiac/muscle-specific exon usage and identified ZU5-deletion variants that abolish β-spectrin binding while mapping ankyrin-G to the intercalated disc and Z-line, establishing the spectrin-binding requirement at the molecular level.

    Evidence Splice-variant PCR screen, ZU5-mutagenesis β-spectrin binding assay, NaV1.5 co-localization imaging

    PMID:26024478

    Open questions at the time
    • Physiological consequence of ZU5 variants in vivo not tested
    • Cardiac NaV1.5 organization mechanism not functionally validated
  9. 2017 Medium

    Connected Ank3 haploinsufficiency to hippocampal proteomic changes in axonal transport and glutamate signaling reversible by lithium, providing a molecular signature for the behavioral phenotype and its pharmacological rescue.

    Evidence Heterozygous KO mouse, MSE/SRM proteomics, interaction-network clustering, behavioral tests, lithium

    PMID:28109561

    Open questions at the time
    • Correlative proteomics does not establish direct interaction changes
    • Direct lithium target not pinpointed
  10. 2022 High

    Showed that ankyrin-G maintains dendritic arborization and spine density in adult pyramidal neurons through parallel GSK3β and adenylate cyclase pathways, identifying the signaling axes through which lithium reverses structural deficits.

    Evidence Conditional forebrain KO, cortical neuron shRNA, confocal morphometry, pharmacological probes (lithium, CHIR99021, forskolin)

    PMID:36376465

    Open questions at the time
    • How ankyrin-G mechanistically engages these signaling pathways unclear
    • Direct molecular substrates downstream not defined
  11. 2022 Medium

    Identified a developmental requirement for ankyrin-G in optic fissure morphogenesis, broadening its phenotypic spectrum beyond the nervous and epithelial systems.

    Evidence Zebrafish morpholino knockdown, in situ expression mapping, coloboma/microphthalmia phenotyping

    PMID:35034853

    Open questions at the time
    • Morpholino specificity limitation
    • Molecular mechanism in ocular morphogenesis unknown
  12. 2023 Medium

    Established that the Ank3-1b isoform sets parvalbumin interneuron excitability and that its loss causes absence epilepsy and sleep disruption, providing a circuit mechanism for epilepsy-bipolar comorbidity.

    Evidence Ank3-1b KO mouse, EEG/video recording, sleep staging, gamma power analysis

    PMID:38123552

    Open questions at the time
    • Molecular basis of altered PV firing threshold not resolved
    • Single lab, single isoform-specific model
  13. 2025 High

    Demonstrated that the BD-associated p.W1989R variant disrupts the ankyrin-G/GABARAP interaction to weaken inhibitory synapses and drive pyramidal hyperexcitability, with lithium and a selective GSK3β inhibitor rescuing the deficit — directly tying a disease variant, a binding partner, and a therapeutic mechanism.

    Evidence Knock-in mouse, patch-clamp, GABAergic synapse/AIS immunofluorescence, ankyrin-G/GABARAP Co-IP, lithium and Tideglusib rescue

    PMID:37961630 PMID:40849089

    Open questions at the time
    • GABARAP-binding interface structure not resolved
    • How GSK3β inhibition reverses a binding-domain variant mechanistically unclear
  14. 2025 High

    Showed that a conserved microexon E35a, differentially spliced between glutamatergic and GABAergic neurons, links ankyrin-G to an InsP3R complex and intracellular Ca2+ signaling to set interneuron excitability independent of AIS structure, revealing isoform-encoded functional diversification.

    Evidence E35a-deletion CRISPR mouse, single-cell electrophysiology, two-photon Ca2+ imaging, AnkG-InsP3R Co-IP, splicing-factor knockdown

    PMID:41688438

    Open questions at the time
    • Direct InsP3R-binding interface not mapped
    • Whether E35a regulation operates in other neuron classes unknown
  15. 2025 Medium

    Identified a tumor-suppressive role for ANK3 in hepatocellular carcinoma via ankyrin-repeat-domain binding of E-cadherin that stabilizes it and restrains Wnt signaling, extending its scaffolding role to adhesion-coupled oncogenic pathways.

    Evidence shRNA knockdown and ANK3-TV4 overexpression in HCC cells, proliferation/invasion assays, Western blot, xenograft, ANK3-E-cadherin Co-IP

    PMID:41198552

    Open questions at the time
    • Single lab, single cell context
    • Mechanism by which ANK3 prevents E-cadherin degradation not resolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How distinct ANK3 isoforms and microexons are deployed across cell types to assemble partner-specific scaffolds — and how these molecular events translate into the divergent psychiatric, epilepsy, developmental, and oncogenic phenotypes — remains unresolved.
  • No unified structural model of how each domain/exon selects its partner
  • Mechanism connecting lithium/GSK3β rescue to ankyrin-G scaffolding not defined
  • Causal link between specific risk isoforms and cellular pathology unestablished

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0060090 molecular adaptor activity 3 GO:0008092 cytoskeletal protein binding 2 GO:0098631 cell adhesion mediator activity 2
Localization
GO:0005886 plasma membrane 3 GO:0005829 cytosol 2 GO:0005856 cytoskeleton 2
Pathway
R-HSA-112316 Neuronal System 3 R-HSA-162582 Signal Transduction 3 R-HSA-1266738 Developmental Biology 2
Partners
ATP1A (NA-K-ATPASE)CDH1 (E-CADHERIN)GABARAPITPR (INSP3R)SCN5A (NAV1.5)SPTBN (Β-SPECTRIN)
Complex memberships
axon initial segmentnode of Ranvier

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1995 ANK3/Ank3 encodes a modular ankyrin protein (ankyrin-G) with an N-terminal repeat domain, a central spectrin-binding domain, and a C-terminal regulatory domain. The repeat domain is required for polarized membrane localization; isoforms lacking it show diffuse cytoplasmic distribution rather than polarized targeting in epithelial cells. cDNA cloning, Northern blotting, immunocytochemistry, immunoblotting of tissue-specific isoforms The Journal of cell biology High 7615634
1998 Distinct ANK3 spliceoforms are differentially distributed between renal proximal and distal tubule cells: the larger 200/215 kDa isoforms (which bind Na-K-ATPase) are enriched in distal tubule, whereas proximal tubule expresses predominantly smaller isoforms, suggesting isoform-specific organization of Na-K-ATPase. Isolation of proximal vs. distal tubule fragments by fluorescence microscopy, immunoblotting with anti-regulatory-domain antibody, densitometric analysis; corroborated in LLC-PK1 and MDCK cell lines The American journal of physiology High 9458832
2011 Ank3 is specifically upregulated in ventricular progenitors destined to become ependymal cells (not in neural stem cells) and is required for lateral adhesion of progenitors during SVZ niche assembly; Foxj1 transcriptionally controls Ank3 expression, and loss of the Foxj1-Ank3 pathway from mature ependyma depletes adult neurogenesis. Genetic knockout (Foxj1 conditional deletion), immunofluorescence, in vivo neurogenesis assays, inducible deletion of Foxj1-Ank3 in mature ependyma Neuron High 21745638
2014 Ankyrin-G forms distinct nanodomain structures within the dendritic spine head and neck (resolved by superresolution microscopy), where it modulates mushroom spine morphology and AMPAR-mediated synaptic transmission, acts as a perisynaptic scaffold/barrier, accumulates in spine subdomains in response to neuronal activity, and differentially regulates NMDA receptor-dependent plasticity depending on location. Superresolution (STORM/PALM) microscopy, shRNA knockdown, electrophysiology (mEPSC recording), spine morphology analysis Neuron High 25374361
2013 Loss-of-function of ANK3 (complete disruption by balanced translocation in a patient, and homozygous truncating frameshift in a consanguineous family) causes intellectual disability, ADHD, autism, and sleep problems; ANK3 knockdown in a Drosophila model produces memory defects, establishing a causal role in cognitive function. Human genetics (balanced translocation, frameshift mutation), Drosophila unc-44 (ANK3 ortholog) RNAi knockdown with behavioral memory assays Human molecular genetics Medium 23390136
2012 Viral RNA interference of Ank3 specifically in hippocampal dentate gyrus reduces anxiety-related behaviors and increases light-phase activity in mice, effects reversible by chronic lithium treatment; heterozygous Ank3 knockout mice show similar anxiety/reward phenotypes that shift to depression-like features after chronic stress, and exhibit elevated serum corticosterone, demonstrating Ank3 regulates stress reactivity. Viral-mediated RNAi in hippocampus, heterozygous knockout mouse, behavioral battery (open field, light-dark, elevated plus maze), lithium treatment, corticosterone assay Biological psychiatry High 23237312
2015 A splice-site SNP (rs41283526) in an alternatively spliced exon of ANK3 is a loss-of-function variant that disables correct splicing of a minor isoform whose transcription is initiated in early adolescence; the minor allele is protective against bipolar disorder (OR=0.31) and schizophrenia (OR=0.21), indicating that elevated expression of this isoform promotes disease risk. Genome-wide genotyping (Illumina Human Exome BeadChip), case-control association, replication in two independent samples, qPCR splice-junction quantification in blood cDNA, BrainSpan developmental transcriptome analysis Biological psychiatry Medium 26682468
2015 Alternative splicing of the Ank3 cardiac gene yields at least 28 splice variants including two new exons; exon 1d is heart/skeletal-muscle-specific (absent in brain, kidney, cerebellum, lung). Two rare variants excising part of the ZU5 motif (minimal spectrin-binding domain) abolish β-spectrin binding. Cardiac ankyrin-G co-localizes with NaV1.5 at the intercalated disc and also localizes to the Z-line. PCR-based splice-variant screen, qRT-PCR with exon-junction-spanning primers, immunoblotting, immunofluorescence co-localization with NaV1.5, β-spectrin binding assay for ZU5-deletion variants PloS one High 26024478
2017 Ank3 haploinsufficiency in mice is associated with proteomic changes in hippocampus that implicate kinesin-related axonal transport and glutamate signaling; targeted SRM proteomics confirmed altered abundance of ANK3 interaction partners in these pathways, and chronic lithium treatment reversed both behavioral phenotypes and this molecular signature. Heterozygous Ank3 knockout mouse, tandem mass spectrometry (MSE), selected reaction monitoring (SRM), protein-protein interaction network clustering, behavioral tests (NSF, EPM, PAT), lithium treatment European neuropsychopharmacology Medium 28109561
2018 A minor ANK3 isoform (incorporating exon ENSE00001786716) is significantly overexpressed in bipolar disorder and schizophrenia patients relative to controls; its transcription start site is in the corpus callosum, and BD-risk GWAS alleles are located near this isoform's transcription start site and are significantly associated with its elevated expression (cis-eQTL). PacBio full-length cDNA sequencing (transcription start site mapping), ddPCR + high-throughput sequencing of indexed amplicons, quantitative PCR, genotype-expression association in large Norwegian cohort Translational psychiatry Medium 30297702
2022 Ank3 conditional knockout in adult forebrain pyramidal neurons or AnkG knockdown in cortical cultures decreases dendritic arborization complexity and dendritic spine number; lithium rescues both deficits in vitro and in vivo. Mechanistically, GSK3β inhibition (CHIR99021) rescues spine morphology defects while adenylate cyclase activation (forskolin) rescues dendrite complexity, and synergistic action of both pathways is required to rescue dendrite and spine density together. Conditional Ank3 knockout mouse (forebrain pyramidal neurons), shRNA knockdown in cortical neuron cultures, confocal morphometry of dendrites and spines, pharmacological rescue (lithium, CHIR99021, forskolin) Neuropsychopharmacology High 36376465
2022 ANK3 knockdown in zebrafish results in a coloboma/microphthalmia phenotype, establishing a developmental role for ankyrin-G in optic fissure morphogenesis; ank3a expression is localized to the optic fissure, periocular mesenchyme, and ciliary marginal zone. Zebrafish morpholino knockdown, in situ hybridization for spatiotemporal expression, phenotypic analysis (coloboma/microphthalmia), BMPR1B rescue as positive control Genetics in medicine Medium 35034853
2023 Deletion of the Ank3-1b isoform in mice increases firing threshold and diminishes action potential dynamic range of parvalbumin (PV) interneurons, causes absence epilepsy, increases slow gamma (~25–45 Hz) EEG power, and disrupts sleep (reduced REM). These findings provide a biological mechanism linking PV interneuron dysfunction to epilepsy-bipolar disorder comorbidity. Ank3-1b knockout mouse, EEG/video recording, overnight home-cage behavioral analysis, REM/NREM sleep staging, gamma power analysis Translational psychiatry Medium 38123552
2025 The BD-associated ANK3 variant p.W1989R disrupts the ankyrin-G/GABARAP interaction, causing inhibitory (GABAergic) synaptic deficits and cortical pyramidal neuron hyperexcitability. Chronic lithium treatment rescues these deficits by selectively enhancing presynaptic GABAergic neurotransmission and partially restoring AIS length, an effect recapitulated by the selective GSK3β inhibitor Tideglusib. Knock-in mouse model (ANK3 p.W1989R), patch-clamp electrophysiology, immunofluorescence (GABAergic synapse density, AIS length), pharmacological rescue (lithium, Tideglusib), co-immunoprecipitation of ankyrin-G/GABARAP Neuropharmacology High 37961630 40849089
2025 A deeply conserved microexon E35a in Ank3 is predominantly skipped in cortical glutamatergic neurons but included in cortical GABAergic neurons and cerebellar neurons, controlled by multiple neuronal splicing factors. E35a deletion increases interneuron excitability and somatic Ca2+ activity without disrupting AIS structure. Biochemically, E35a inclusion facilitates AnkG interaction with a complex containing inositol trisphosphate receptors (InsP3Rs), linking AnkG to intracellular Ca2+ signaling in a neuron type-specific manner. E35a-deletion mouse (CRISPR), single-cell electrophysiology, two-photon Ca2+ imaging, biochemical co-immunoprecipitation (AnkG–InsP3R complex), splicing factor knockdown assays, AIS immunostaining Nature communications High 41688438
2025 ANK3 inhibits hepatocellular carcinoma metastasis by binding E-cadherin via its N-terminal ankyrin repeat domain, preventing E-cadherin protein degradation and suppressing the Wnt signaling pathway; ANK3 knockdown activates Wnt, downregulates E-cadherin, and promotes its degradation. shRNA knockdown in 786-O HCC cells, overexpression of ANK3-TV4, CCK-8 proliferation assay, invasion/migration assay, Western blot (E-cadherin, Wnt pathway components, EMT markers), in vivo xenograft, co-immunoprecipitation (ANK3–E-cadherin) Frontiers in bioscience (Landmark edition) Medium 41198552
2025 Ank3-1b deletion disrupts cortical excitatory-inhibitory balance (reduced sink/source ratios, elevated AVREC), impairs sensory-evoked intra-columnar connectivity, increases low-frequency spike-field coherence, and delays inhibitory neuron latencies in a layer-specific manner, indicating thalamocortical circuit deficits downstream of PV interneuron dysfunction. Ank3-1b KO mouse, laminar electrophysiology, spike-field coherence analysis, single-unit recordings, current source density analysis bioRxivpreprint Medium bio_10.1101_2025.11.22.689933

Source papers

Stage 0 corpus · 67 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2014 Psychiatric risk factor ANK3/ankyrin-G nanodomains regulate the structure and function of glutamatergic synapses. Neuron 152 25374361
2008 Two variants in Ankyrin 3 (ANK3) are independent genetic risk factors for bipolar disorder. Molecular psychiatry 139 19088739
1995 Ank3 (epithelial ankyrin), a widely distributed new member of the ankyrin gene family and the major ankyrin in kidney, is expressed in alternatively spliced forms, including forms that lack the repeat domain. The Journal of cell biology 137 7615634
2013 Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. Human molecular genetics 136 23390136
2011 Ank3-dependent SVZ niche assembly is required for the continued production of new neurons. Neuron 105 21745638
2012 Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. Human mutation 99 22865819
2012 The ANK3 bipolar disorder gene regulates psychiatric-related behaviors that are modulated by lithium and stress. Biological psychiatry 85 23237312
2017 Frameshift Mutations in Repeat Sequences of ANK3, HACD4, TCP10L, TP53BP1, MFN1, LCMT2, RNMT, TRMT6, METTL8 and METTL16 Genes in Colon Cancers. Pathology oncology research : POR 47 28803425
2014 Analysis of ANK3 and CACNA1C variants identified in bipolar disorder whole genome sequence data. Bipolar disorders 42 24716743
2012 ANK3 as a risk gene for schizophrenia: new data in Han Chinese and meta analysis. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 38 23109352
2011 ANK3, CACNA1C and ZNF804A gene variants in bipolar disorders and psychosis subphenotype. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 36 21767209
1998 Distribution of epithelial ankyrin (Ank3) spliceoforms in renal proximal and distal tubules. The American journal of physiology 34 9458832
2015 Genetic analysis of SNPs in CACNA1C and ANK3 gene with schizophrenia: A comprehensive meta-analysis. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 33 26227746
2015 A Loss-of-Function Variant in a Minor Isoform of ANK3 Protects Against Bipolar Disorder and Schizophrenia. Biological psychiatry 32 26682468
2011 The cognitive impact of the ANK3 risk variant for bipolar disorder: initial evidence of selectivity to signal detection during sustained attention. PloS one 32 21304963
2013 Converging Evidence for Epistasis between ANK3 and Potassium Channel Gene KCNQ2 in Bipolar Disorder. Frontiers in genetics 30 23730306
2011 Association analysis of ANK3 gene variants in nordic bipolar disorder and schizophrenia case-control samples. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 30 21972176
2014 Association of a risk allele of ANK3 with cognitive performance and cortical thickness in patients with first-episode psychosis. Journal of psychiatry & neuroscience : JPN 29 24016415
2014 Calcium-dependent intracellular signal pathways in primary cultured adipocytes and ANK3 gene variation in patients with bipolar disorder and healthy controls. Molecular psychiatry 28 25311363
2011 Association of ANK3 with bipolar disorder confirmed in East Asia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 27 21438140
1995 Chromosomal localization of the ankyrinG gene (ANK3/Ank3) to human 10q21 and mouse 10. Genomics 26 7665168
2017 First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features. European journal of medical genetics 24 28687526
2016 Mood, stress and longevity: convergence on ANK3. Molecular psychiatry 24 27217151
2021 ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants. Neurogenetics 22 34218362
2018 Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder. Translational psychiatry 22 30297702
2016 Effects of ANK3 variation on gray and white matter in bipolar disorder. Molecular psychiatry 22 27240527
2015 The effect of ANK3 bipolar-risk polymorphisms on the working memory circuitry differs between loci and according to risk-status for bipolar disorder. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 21 25711502
2014 Genetic association of LMAN2L gene in schizophrenia and bipolar disorder and its interaction with ANK3 gene polymorphism. Progress in neuro-psychopharmacology & biological psychiatry 21 24914473
2012 ANK3 and CACNA1C--missing genetic link for bipolar disorder and major depressive disorder in two German case-control samples. Journal of psychiatric research 21 22647524
2017 Behavioural characterization of AnkyrinG deficient mice, a model for ANK3 related disorders. Behavioural brain research 19 28411148
2012 Bipolar disorder ANK3 risk variant effect on sustained attention is replicated in a large healthy population. Psychiatric genetics 19 22498896
2017 Lithium reverses behavioral and axonal transport-related changes associated with ANK3 bipolar disorder gene disruption. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 18 28109561
2019 A genome-wide scan of cleft lip triads identifies parent-of-origin interaction effects between ANK3 and maternal smoking, and between ARHGEF10 and alcohol consumption. F1000Research 17 31372216
2023 Abnormal patterns of sleep and waking behaviors are accompanied by neocortical oscillation disturbances in an Ank3 mouse model of epilepsy-bipolar disorder comorbidity. Translational psychiatry 13 38123552
2017 ANK3 gene polymorphisms and bipolar disorder: a meta-analysis. Psychiatric genetics 13 29068871
2014 Cognitive effects of the ANK3 risk variants in patients with bipolar disorder and healthy individuals. Journal of affective disorders 13 24655771
2022 Lithium rescues dendritic abnormalities in Ank3 deficiency models through the synergic effects of GSK3β and cyclic AMP signaling pathways. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 12 36376465
2012 Sequencing of the ANKYRIN 3 gene (ANK3) encoding ankyrin G in bipolar disorder reveals a non-conservative amino acid change in a short isoform of ankyrin G. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 12 22328486
2022 Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis. Genetics in medicine : official journal of the American College of Medical Genetics 11 35034853
2021 A Rare Variant of ANK3 Is Associated With Intracranial Aneurysm. Frontiers in neurology 10 34248821
2020 Age-related atrophy of cortical thickness and genetic effect of ANK3 gene in first episode MDD patients. NeuroImage. Clinical 10 32911427
2022 Genetic Alterations in Papillary Thyroid Carcinoma With Hashimoto's Thyroiditis： ANK3, an Indolent Maintainer of Papillary Thyroid Carcinoma. Frontiers in oncology 9 35646694
2015 Exon organization and novel alternative splicing of Ank3 in mouse heart. PloS one 9 26024478
2024 The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants. Clinical genetics 7 38988293
2016 Association analysis of ANK3 gene variants with schizophrenia in a northern Chinese Han population. Oncotarget 7 27811378
2021 A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21. Journal of psychiatry & neuroscience : JPN 6 33729739
2021 ANK3 Gene Polymorphism Rs10994336 Influences Executive Functions by Modulating Methylation in Patients With Bipolar Disorder. Frontiers in neuroscience 6 34421516
2023 Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay. Cold Spring Harbor molecular case studies 5 37263801
2024 Effects of CACNA1C and ANK3 on cognitive function in patients with bipolar disorder. Progress in neuro-psychopharmacology & biological psychiatry 4 38657895
2022 Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain. Translational psychiatry 4 35091539
2022 Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior. Molecular syndromology 4 36777705
2014 Case control study of association between the ANK3 rs10761482 polymorphism and schizophrenia in persons of Uyghur nationality living in Xinjiang China. Shanghai archives of psychiatry 4 25477722
2011 No association between bipolar disorder risk polymorphisms in ANK3 and CACNA1C and common migraine. Headache 4 21395576
2023 Expression of ANK3 moderates the association between childhood trauma and affective traits in severe mental disorders. Scientific reports 3 37620394
2017 Association analysis of ANK3 variants with bipolar disorder in the Korean population. Nordic journal of psychiatry 3 28079488
2025 Lithium Restores Inhibitory Function and Neuronal Excitability through GSK-3β Inhibition in a Bipolar Disorder-Associated Ank3 Variant Mouse Model. bioRxiv : the preprint server for biology 2 37961630
2025 Lithium restores inhibitory function and neuronal excitability through GSK-3β inhibition in a bipolar disorder-associated Ank3 variant mouse model. Neuropharmacology 2 40849089
2024 Case report: First evidence of impressive efficacy of modulated dose selpercatinib in a young Caucasian with ANK3-RET fusion-positive NSCLC. Frontiers in oncology 2 38420011
2016 The ANK3 gene and facial affect processing: An ERP study. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2 27177275
2025 Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 1 40879451
2024 Concurrent KRAS p.G12C mutation and ANK3::RET fusion in a patient with metastatic colorectal cancer: a case report. Diagnostic pathology 1 38539256
2024 ANK3 rs10994336 and ZNF804A rs7597593 polymorphisms: genetic interaction for emotional and behavioral symptoms of alcohol withdrawal syndrome. BMC psychiatry 1 38702695
2026 A neuron type-specific microexon in Ank3/ankyrin-G modulates calcium activity and neuronal excitability. Nature communications 0 41688438
2025 Paraneoplastic Brachial Amyotrophic Diplegia With Favorable Outcome and Anti-Ank3 Antibodies: A Case Report. Neurology(R) neuroimmunology & neuroinflammation 0 41052378
2025 Downregulation of ankyrin 3 (ANK3) promotes malignant behaviors associated with altered adhesion dynamics and actin cytoskeleton remodeling in renal cell carcinoma. Cell and tissue research 0 41186628
2025 ANK3 Is Regulated by Recursive Splicing and Inhibits Hepatocellular Carcinoma Metastasis by Inhibiting E-Cadherin Protein Degradation. Frontiers in bioscience (Landmark edition) 0 41198552
2025 A neuron type-specific microexon in Ank3/ankyrin-G modulates calcium activity and neuronal excitability. bioRxiv : the preprint server for biology 0 41427402

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