Affinage

DCDC2

Doublecortin domain-containing protein 2 · UniProt Q9UHG0

Length
476 aa
Mass
52.8 kDa
Annotated
2026-06-09
65 papers in source corpus 19 papers cited in narrative 19 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

DCDC2 is a doublecortin-domain microtubule-associated protein that localizes along the primary ciliary axoneme and to mitotic spindle fibers, where it governs ciliogenesis, ciliary length, and cilium-dependent signaling (PMID:21698230, PMID:25557784). Its overexpression nucleates long microtubule-based cables in cells, and integrity of its doublecortin domains is required both for microtubule function and for correct ciliary targeting, since disease-associated missense mutations and in-frame deletions mislocalize the protein to the cytoplasm and abolish ciliogenesis (PMID:25601850, PMID:27319779). At the cilium, DCDC2 physically interacts with DVL and suppresses β-catenin-dependent Wnt signaling while promoting Sonic Hedgehog output; loss-of-function shifts the balance toward Wnt activation, and Wnt inhibition restores ciliogenesis in cellular and zebrafish models (PMID:21698230, PMID:25557784). DCDC2 expression is transcriptionally coupled to the ciliogenic program through RFX transcription factors acting at X-box promoter motifs (PMID:27451412), and it operates within a cilium-centrosome network, interacting with DYX1C1 and the centrosomal protein CPAP/CENPJ (PMID:37237337). In the nervous system DCDC2 contributes to cortical neuron migration with partial redundancy to DCX, and its loss elevates GluN2B-containing NMDA receptor activity to increase neuronal excitability and degrade spike-timing precision (PMID:21689730, PMID:24094509, PMID:26250775). Biallelic doublecortin-domain mutations cause neonatal sclerosing cholangitis through loss of cholangiocyte primary cilia, and a missense mutation causes recessive deafness DFNB66 (PMID:27469900, PMID:27319779, PMID:25601850). This Wnt-suppressive, microtubule-based activity is redeployed in disease contexts, where DCDC2 attenuates hepatic stellate cell activation and is co-opted in several cancers (PMID:38658618, PMID:22733135, PMID:36739270).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 2005 Medium

    Established the first cellular role for DCDC2 by asking whether it influences cortical development.

    Evidence RNAi knockdown in rat embryonic neocortical progenitors with neuronal migration assays

    PMID:16278297

    Open questions at the time
    • No molecular mechanism for the migration defect
    • Cilium and microtubule roles not yet linked
  2. 2008 Medium

    Refined the migration phenotype and tested domain requirements, showing full-length DCDC2 rescues periventricular heterotopia.

    Evidence In utero RNAi plus overexpression/rescue constructs and cortical lamination histology in rat

    PMID:18313856

    Open questions at the time
    • Individual domain constructs alone did not produce malformations, leaving domain function unresolved
    • Biochemical partners not identified
  3. 2011 Medium

    Placed DCDC2 at the primary cilium and connected it to Shh/Wnt signaling, reframing it as a ciliary regulator rather than a purely cytoplasmic migration factor.

    Evidence Immunofluorescence, KIF3A proximity, ciliary length measurement, Shh/Wnt reporters, and C. elegans phenotyping

    PMID:21698230

    Open questions at the time
    • Direct interaction partners mediating Wnt/Shh effects not defined
    • Single-lab signaling readouts
  4. 2011 Medium

    Resolved why germline knockout is phenotypically silent by demonstrating functional redundancy between DCDC2 and DCX.

    Evidence Dcdc2 knockout mouse phenotyping plus in utero Dcx RNAi in KO vs wild-type

    PMID:21689730

    Open questions at the time
    • Molecular basis of DCX/DCDC2 redundancy not defined
    • Does not address ciliary functions
  5. 2013 High

    Identified a neuronal signaling consequence of DCDC2 loss, linking it to GluN2B-NMDAR-dependent control of spike timing.

    Evidence Patch clamp, RNA-seq/RT-PCR, and pharmacological rescue with NMDAR antagonists in Dcdc2 KO mice

    PMID:24094509

    Open questions at the time
    • Mechanism connecting DCDC2 to Grin2B transcription unknown
    • Causal link to ciliary microtubule role not established
  6. 2014 High

    Defined the mutation-structure-function logic of DCDC2 ciliopathy by showing DVL interaction, Wnt suppression, and rescue by wild-type but not NPHP-RC mutants.

    Evidence Localization, siRNA+rescue, DVL Co-IP, β-catenin reporters, 3D ciliogenesis, and zebrafish renal cyst/hydrocephalus model

    PMID:25557784

    Open questions at the time
    • Structural basis of DVL binding not resolved
    • How Wnt suppression mechanistically promotes ciliogenesis unclear
  7. 2014 High

    Localized the excitability phenotype to altered presynaptic NMDAR activation in a circuit-specific manner.

    Evidence EPSC recordings, intracellular MK-801 postsynaptic block, and circuit-specific recording in Dcdc2 KO mice

    PMID:26250775

    Open questions at the time
    • Molecular target of DCDC2 at presynaptic terminals unknown
    • Connection to ciliary/microtubule function unaddressed
  8. 2015 Medium

    Demonstrated DCDC2 as a direct microtubule-organizing protein and tied deafness to ciliary microtubule integrity.

    Evidence Inner ear immunofluorescence, GFP-overexpression microtubule cable assay in COS7, and zebrafish dcdc2b knockdown for DFNB66

    PMID:25601850

    Open questions at the time
    • Biochemical mode of microtubule binding/stabilization not quantified
    • Single-lab in vivo model
  9. 2016 Medium

    Established transcriptional control of DCDC2 by the ciliogenic RFX program, integrating it into cilium biogenesis regulation.

    Evidence Reporter assays, EMSA, RFX knockdown/overexpression with RT-qPCR, and endogenous localization during ciliogenesis in RPE1 cells

    PMID:27451412

    Open questions at the time
    • Whether RFX regulation is conserved across all DCDC2-expressing tissues unknown
  10. 2016 Medium

    Provided ultrastructural proof that DCDC2 is required for human cholangiocyte primary cilia, establishing causation in neonatal sclerosing cholangitis.

    Evidence Whole exome sequencing, immunohistochemistry, and TEM of patient cholangiocytes

    PMID:27319779 PMID:27469900

    Open questions at the time
    • Mechanism by which mutant protein mislocalizes not fully defined at the structural level
  11. 2016 Medium

    Connected DCDC2 loss to a specific auditory processing deficit distinct from KIAA0319.

    Evidence In utero RNAi in rat auditory cortex with electrophysiology and speech-sound behavioral tasks

    PMID:27122044

    Open questions at the time
    • Cellular mechanism linking DCDC2 to rapid auditory processing unknown
  12. 2022 Medium

    Reinforced an evolutionarily conserved ciliary role through ortholog redundancy with nephronophthisis machinery.

    Evidence C. elegans RPI-1 localization and double-mutant epistasis with NPHP-4

    PMID:37529113

    Open questions at the time
    • Molecular nature of RPI-1/NPHP-4 redundancy not defined
    • Direct mammalian NPHP4 interaction not tested
  13. 2023 Medium

    Embedded DCDC2 in a centrosome-cilium protein module by demonstrating physical interaction with DYX1C1 and CPAP/CENPJ.

    Evidence Endogenous and exogenous Co-IP, brain organoid assays, and zebrafish dyx1c1/dcdc2b synergistic epistasis

    PMID:37237337

    Open questions at the time
    • Stoichiometry and architecture of the DCDC2-DYX1C1-CPAP assembly unresolved
    • Functional consequence of the interaction at the centrosome not dissected
  14. 2024 Medium

    Showed the Wnt-suppressive activity of DCDC2 operates in a non-ciliary disease context to limit fibrogenic stellate cell activation.

    Evidence DCDC2 overexpression in TGF-β1-stimulated HSCs with β-catenin translocation, fibrotic marker westerns, and CCl4 mouse model

    PMID:38658618

    Open questions at the time
    • Whether DCDC2-DVL interaction mediates this effect in HSCs not shown
    • Cilium dependence of the anti-fibrotic effect unclear
  15. 2023 Low

    Extended DCDC2 function to tumor biology as a downstream effector of transcriptional repressors controlling Wnt and spindle activity.

    Evidence PBX1/DCDC2 epistasis with Wnt reporters and spindle assays in colorectal cancer models, and ESE3/EHF promoter repression with migration/taxol-resistance assays in prostate cancer

    PMID:22733135 PMID:36739270

    Open questions at the time
    • Direct molecular link between DCDC2 and spindle function not demonstrated
    • Whether ciliary versus spindle pools drive oncogenic effects unknown
  16. 2025 Medium

    Identified a novel non-ciliary oncogenic mechanism whereby DCDC2 drives immune evasion.

    Evidence Protein microarray, transcriptomics, reporter assays, and xenograft/humanized PBMC models in cholangiocarcinoma

    PMID:40533767

    Open questions at the time
    • How a ciliary microtubule protein stabilizes ENO1 mechanistically unexplained
    • Relationship to canonical Wnt/cilium roles undefined

Open questions

Synthesis pass · forward-looking unresolved questions
  • How DCDC2's microtubule-binding doublecortin domains mechanistically couple ciliary targeting, Wnt/DVL suppression, NMDAR regulation, and spindle/oncogenic functions into one unified biochemical activity remains unresolved.
  • No structural model of DCDC2 on microtubules or with DVL
  • Unclear whether neuronal, ciliary, and tumor phenotypes share a single molecular mechanism

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008092 cytoskeletal protein binding 3 GO:0060089 molecular transducer activity 2
Localization
GO:0005929 cilium 6 GO:0005856 cytoskeleton 3 GO:0005815 microtubule organizing center 2 GO:0005829 cytosol 1
Pathway
R-HSA-112316 Neuronal System 3 R-HSA-162582 Signal Transduction 3 R-HSA-1643685 Disease 3 R-HSA-1852241 Organelle biogenesis and maintenance 3
Partners
CENPJDVLDYX1C1ENO1ETV6KIF3A

Evidence

Reading pass · 19 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2005 RNAi-mediated knockdown of DCDC2 in rat embryonic neocortical progenitor cells alters neuronal migration, establishing a functional role for DCDC2 in cortical neuron migration. RNA interference (RNAi) in rat embryonic brain; neuronal migration assay Proceedings of the National Academy of Sciences of the United States of America Medium 16278297
2008 Embryonic RNAi knockdown of Dcdc2 in rat neocortical ventricular zone causes periventricular heterotopia and bimodal neuronal migration defects; overexpression of full-length DCDC2 rescues the periventricular heterotopia phenotype. Domain analysis showed the C-terminal domain and DCX domain constructs did not produce malformations when overexpressed alone. In utero RNAi and overexpression constructs; postnatal histological analysis of cortical lamination Neuroscience Medium 18313856
2011 DCDC2 protein localizes to the primary cilium in primary rat hippocampal neurons and is found in close proximity to the ciliary kinesin-2 subunit KIF3A. Overexpression of DCDC2 increases ciliary length and activates Sonic Hedgehog (Shh) signaling, while knockdown of Dcdc2 enhances Wnt signaling, consistent with a functional role in ciliary signaling. DCDC2 overexpression in C. elegans causes an abnormal neuronal phenotype only in ciliated neurons. Immunofluorescence localization; proximity assay with KIF3A; ciliary length measurement; Shh and Wnt reporter assays; C. elegans neuronal phenotype analysis PloS one Medium 21698230
2011 Dcdc2 knockout mice show no significant differences from wild-type in neuronal migration, neocortical lamination, neuronal ciliogenesis, or dendritic differentiation under baseline conditions. However, RNAi knockdown of Dcx in Dcdc2 knockout mice causes more severe deficits in neuronal migration and dendritic growth than in wild-type mice with the same transfection, indicating partial functional redundancy between DCDC2 and doublecortin (DCX). Dcdc2 knockout mouse phenotypic analysis; in utero RNAi of Dcx in knockout vs. wild-type mice; histological assessment of migration and dendritic growth Neuroscience Medium 21689730
2013 The intronic DCDC2 variant BV677278 (READ1) binds the transcription factor ETV6; alleles of this regulatory element influence reading and language skills, and READ1 interacts non-additively with KIAA0319 to adversely affect reading and cognitive phenotypes. Protein identification by mass spectrometry of BV677278-binding nuclear protein; genetic association and epistasis analysis; electrophoretic mobility shift assay (EMSA) American journal of human genetics Medium 23746548
2013 Dcdc2 knockout mice display increased neocortical neuron excitability, decreased temporal precision in action potential firing, and elevated NMDA receptor subunit GluN2B (Grin2B) expression. NMDAR antagonists (APV or Ro 25-6981, a GluN2B-specific antagonist) restore normal spike-timing precision, linking DCDC2 function to spike timing through NMDAR activity. Whole-cell patch clamp recordings in Dcdc2 KO vs. wild-type mice; RNA sequencing; RT-PCR; pharmacological rescue with NMDAR antagonists Biological psychiatry High 24094509
2014 DCDC2 localizes to the ciliary axoneme and to mitotic spindle fibers in a cell-cycle-dependent manner. Knockdown of Dcdc2 in IMCD3 cells disrupts ciliogenesis, rescued by wild-type human DCDC2 but not by constructs reflecting human NPHP-RC mutations. DCDC2 physically interacts with DVL, and DCDC2 overexpression inhibits β-catenin-dependent Wnt signaling additively with Wnt inhibitors; NPHP-RC mutant constructs lack this inhibitory effect. A Wnt inhibitor restores ciliogenesis in 3D IMCD3 cultures. Knockdown of dcdc2 in zebrafish causes renal cysts and hydrocephalus rescued by Wnt inhibitor and wild-type but not mutant DCDC2. Immunofluorescence localization; siRNA knockdown with rescue constructs; co-immunoprecipitation of DVL; β-catenin reporter assays; 3D IMCD3 ciliogenesis assay; zebrafish knockdown model American journal of human genetics High 25557784
2014 Dcdc2 knockout mice show elevated spontaneous and evoked glutamate release from layer 4 neurons in somatosensory cortex. Increased probability of release is decreased to wild-type levels by NMDAR antagonists when postsynaptic NMDARs are blocked, suggesting altered non-postsynaptic (presynaptic) NMDAR activation. The increased excitatory transmission is specific to layer 4–layer 4 lateral connections and not thalamocortical connections. Whole-cell patch clamp (spontaneous and evoked EPSCs); intracellular MK-801 to block postsynaptic NMDARs; pharmacological dissection with NMDAR antagonists; circuit-specific recording Cerebral cortex (New York, N.Y. : 1991) High 26250775
2015 A missense mutation in DCDC2a causes non-syndromic recessive deafness DFNB66. DCDC2a localizes to the kinocilia of sensory hair cells and the primary cilia of nonsensory supporting cells in rat inner ear, with increased density toward the kinocilium tip. DCDC2a-GFP overexpression in COS7 cells induces formation of long microtubule-based cytosolic cables, suggesting a role in microtubule formation and stabilization. Expression of the deafness mutant DCDC2a causes cilium structural defects (branching) and up to 3-fold increase in length ratios. The zebrafish ortholog dcdc2b is essential for hair cell development, survival, and function. Immunofluorescence on rat inner ear; GFP-overexpression in COS7 cells; zebrafish knockdown; ciliary phenotype analysis Human molecular genetics Medium 25601850
2016 DCDC2 is regulated transcriptionally by Regulatory Factor X (RFX) transcription factors (RFX1, RFX2, RFX3) via conserved X-box promoter motifs in its promoter region. RFX TFs bind these X-box motifs (demonstrated by EMSA) and significantly affect endogenous DCDC2 expression in hTERT-RPE1 cells. Induction of ciliogenesis increases expression of RFX TFs and DCDC2. At the protein level, endogenous DCDC2 localizes along the entire axoneme of the primary cilium. Reporter gene assay; electrophoretic mobility shift assay (EMSA); RFX knockdown/overexpression with RT-qPCR of endogenous DCDC2; immunofluorescence of endogenous protein during ciliogenesis FASEB journal : official publication of the Federation of American Societies for Experimental Biology Medium 27451412
2016 Mutations in DCDC2 cause neonatal sclerosing cholangitis (NSC). In patients with DCDC2 mutations, immunostaining shows absence of DCDC2 protein and acetylated alpha-tubulin (a ciliary marker) in cholangiocytes, and transmission electron microscopy demonstrates that cholangiocytes lack primary cilia, establishing that DCDC2 is required for cholangiocyte primary cilia formation/maintenance. Whole exome sequencing; immunohistochemistry; transmission electron microscopy of patient cholangiocytes Journal of hepatology Medium 27469900
2016 Biallelic missense mutations or in-frame deletions in DCDC2, affecting highly conserved amino acids in the doublecortin domains, cause neonatal sclerosing cholangitis. In patient cholangiocytes, mutated DCDC2 protein accumulates in the cytoplasm, is absent from cilia, and is associated with a ciliogenesis defect, demonstrating that doublecortin domain integrity is required for proper DCDC2 ciliary targeting. Whole exome sequencing; immunofluorescence of patient-derived cholangiocytes showing cytoplasmic vs. ciliary localization; ciliogenesis assessment Human mutation Medium 27319779
2016 Knockdown of Dcdc2 by RNAi in rat auditory cortex (in utero) impairs the ability to identify speech sounds from continuous streams but does not impair discrimination of isolated speech sounds. Abnormal neural plasticity after training was also observed in auditory cortex, suggesting a specific role in rapid auditory processing distinct from that of Kiaa0319. In utero RNAi in rats; auditory cortex electrophysiology; behavioral speech sound discrimination tasks The Journal of neuroscience : the official journal of the Society for Neuroscience Medium 27122044
2022 The C. elegans ortholog of DCDC2 (RPI-1) localizes to the entire ciliary axoneme but is absent from the transition zone and basal body. RPI-1 null mutants display functional redundancy with NPHP-4 (nephronophthisis 4) in regulating cilia length and cilia position, as demonstrated by exacerbated ciliary phenotypes in double mutants. Fluorescence-based ciliary markers in C. elegans; null mutant generation; double mutant epistasis analysis Turkish journal of biology Medium 37529113
2023 DYX1C1 and DCDC2 physically interact at the protein level, and both interact with the centrosomal protein CPAP (CENPJ), demonstrated at exogenous and endogenous levels in multiple cell models including brain organoids. In zebrafish, dyx1c1 and dcdc2b show a synergistic genetic interaction that exacerbates the ciliary phenotype. DYX1C1 and DCDC2 also mutually affect each other's transcriptional regulation in a cellular model. Co-immunoprecipitation (exogenous and endogenous); brain organoid protein interaction assay; zebrafish double-knockdown genetic epistasis; transcriptional regulation assays BMC molecular and cell biology Medium 37237337
2024 DCDC2 inhibits hepatic stellate cell (HSC) activation induced by TGF-β1 by suppressing Wnt/β-catenin signaling, specifically inhibiting β-catenin activation and preventing its nuclear translocation. Overexpression of DCDC2 reduces α-SMA and Col1α1 expression and attenuates HSC proliferation and EMT-like processes. In vivo, exogenous DCDC2 ameliorates CCl4-induced liver fibrosis. DCDC2 overexpression in TGF-β1-stimulated HSC cells; β-catenin nuclear translocation assay; Western blotting of α-SMA and Col1α1; CCl4 mouse liver fibrosis model Scientific reports Medium 38658618
2012 In prostate cancer cells, DCDC2 colocalizes with microtubules and promotes cell migration and resistance to the microtubule-targeting drug taxol. The ETS transcription factor ESE3/EHF represses DCDC2 expression by binding to an ETS binding site in the DCDC2 gene promoter; loss of ESE3/EHF in prostate tumors leads to aberrant DCDC2 expression. Immunofluorescence colocalization with microtubules; cell migration assay; taxol resistance assay; ChIP/reporter assay for ESE3/EHF binding at DCDC2 promoter; gain/loss-of-function of ESE3/EHF with DCDC2 expression analysis Oncogene Medium 22733135
2025 In intrahepatic cholangiocarcinoma cells, DCDC2 stabilizes ENO1, leading to enhanced AKT phosphorylation and increased FGL1 expression; elevated FGL1 impairs CD8+ T cell functionality via the FGL1-LAG3 immune checkpoint axis. Protein microarray; transcriptome analysis; immunofluorescence; dual-luciferase reporter assay; xenograft and humanized PBMC models; functional assays Journal of experimental & clinical cancer research : CR Medium 40533767
2023 PBX1 acts as a transcription factor that suppresses DCDC2 expression; in colorectal cancer cells, the PBX1-DCDC2 axis controls Wnt pathway activity and spindle function. Overexpression of DCDC2 restores colorectal cancer cell proliferation, metastasis, and Wnt pathway activation that had been suppressed by PBX1 overexpression. PBX1 overexpression with DCDC2 expression analysis; rescue overexpression of DCDC2; Wnt pathway reporter; spindle function assays; in vitro and in vivo tumor models Oncogenesis Low 36739270

Source papers

Stage 0 corpus · 65 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2005 DCDC2 is associated with reading disability and modulates neuronal development in the brain. Proceedings of the National Academy of Sciences of the United States of America 283 16278297
2005 Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. American journal of human genetics 172 16385449
2011 DCDC2, KIAA0319 and CMIP are associated with reading-related traits. Biological psychiatry 126 21457949
2011 Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons. PloS one 100 21698230
2014 DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. American journal of human genetics 90 25557784
2015 A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. Human molecular genetics 79 25601850
2010 Dyslexia and DCDC2: normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample. European journal of human genetics : EJHG 68 20068590
2012 DCDC2 genetic variants and susceptibility to developmental dyslexia. Psychiatric genetics 63 21881542
2009 The role of gene DCDC2 in German dyslexics. Annals of dyslexia 63 19238550
2008 Postnatal analysis of the effect of embryonic knockdown and overexpression of candidate dyslexia susceptibility gene homolog Dcdc2 in the rat. Neuroscience 63 18313856
2014 The DCDC2 intron 2 deletion impairs illusory motion perception unveiling the selective role of magnocellular-dorsal stream in reading (dis)ability. Cerebral cortex (New York, N.Y. : 1991) 60 25270309
2016 Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. Journal of hepatology 54 27469900
2016 DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis. Human mutation 49 27319779
2013 Alleles of a polymorphic ETV6 binding site in DCDC2 confer risk of reading and language impairment. American journal of human genetics 49 23746548
2008 Polymorphism of DCDC2 Reveals Differences in Cortical Morphology of Healthy Individuals-A Preliminary Voxel Based Morphometry Study. Brain imaging and behavior 49 19096528
2008 Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample. Psychiatric genetics 46 19018237
2014 Mutation of Dcdc2 in mice leads to impairments in auditory processing and memory ability. Genes, brain, and behavior 42 25130614
2010 Association of a rare variant with mismatch negativity in a region between KIAA0319 and DCDC2 in dyslexia. Behavior genetics 41 21104116
2014 The DCDC2/intron 2 deletion and white matter disorganization: focus on developmental dyslexia. Cortex; a journal devoted to the study of the nervous system and behavior 37 24926531
2011 Dcdc2 knockout mice display exacerbated developmental disruptions following knockdown of doublecortin. Neuroscience 37 21689730
2013 The dyslexia-associated gene DCDC2 is required for spike-timing precision in mouse neocortex. Biological psychiatry 34 24094509
2016 Knockdown of Dyslexia-Gene Dcdc2 Interferes with Speech Sound Discrimination in Continuous Streams. The Journal of neuroscience : the official journal of the Society for Neuroscience 31 27122044
2014 DCDC2 polymorphism is associated with left temporoparietal gray and white matter structures during development. The Journal of neuroscience : the official journal of the Society for Neuroscience 31 25339756
2013 Analysis of genetic variants of dyslexia candidate genes KIAA0319 and DCDC2 in Indian population. Journal of human genetics 31 23677054
2011 Mutation of the dyslexia-associated gene Dcdc2 impairs LTM and visuo-spatial performance in mice. Genes, brain, and behavior 29 21883923
2015 Strong motion deficits in dyslexia associated with DCDC2 gene alteration. The Journal of neuroscience : the official journal of the Society for Neuroscience 27 26019324
2016 Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 24 27451412
2012 Aberrant expression of the neuronal-specific protein DCDC2 promotes malignant phenotypes and is associated with prostate cancer progression. Oncogene 24 22733135
2012 Meta-analysis of the association between DCDC2 polymorphisms and risk of dyslexia. Molecular neurobiology 24 23229871
2015 Polymorphisms in DCDC2 and S100B associate with developmental dyslexia. Journal of human genetics 20 25877001
2015 Mutation of the Dyslexia-Associated Gene Dcdc2 Enhances Glutamatergic Synaptic Transmission Between Layer 4 Neurons in Mouse Neocortex. Cerebral cortex (New York, N.Y. : 1991) 20 26250775
2005 A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family. Human heredity 20 16244493
2015 Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression. PloS one 17 26331477
2016 Association of DCDC2 Polymorphisms with Normal Variations in Reading Abilities in a Chinese Population. PloS one 16 27100778
2013 Detection of doublecortin domain-containing 2 (DCDC2), a new candidate tumor suppressor gene of hepatocellular carcinoma, by triple combination array analysis. Journal of experimental & clinical cancer research : CR 16 24034596
2017 The DCDC2 deletion is not a risk factor for dyslexia. Translational psychiatry 14 28742079
2024 DCDC2 inhibits hepatic stellate cell activation and ameliorates CCl4-induced liver fibrosis by suppressing Wnt/β-catenin signaling. Scientific reports 12 38658618
2017 DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children. Neural regeneration research 12 28400808
2014 The role of DCDC2 genetic variants and low socioeconomic status in vulnerability to attention problems. European child & adolescent psychiatry 11 25012462
2023 Spindle function and Wnt pathway inhibition by PBX1 to suppress tumor progression via downregulating DCDC2 in colorectal cancer. Oncogenesis 9 36739270
2021 White matter deficits correlate with visual motion perception impairments in dyslexic carriers of the DCDC2 genetic risk variant. Experimental brain research 8 34228165
2021 Integration of GWAS and brain transcriptomic analyses in a multiethnic sample of 35,245 older adults identifies DCDC2 gene as predictor of episodic memory maintenance. Alzheimer's & dementia : the journal of the Alzheimer's Association 8 34873813
2012 Association of polymorphisms in the DCDC2 gene with developmental dyslexia in the Han Chinese. Chinese medical journal 8 22490485
2011 DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss. European journal of medical genetics 8 21816241
2020 Biallelic mutations in DCDC2 cause neonatal sclerosing cholangitis in a Chinese family. Clinics and research in hepatology and gastroenterology 7 32205117
2018 Evaluation of visual motion perception ability in mice with knockout of the dyslexia candidate susceptibility gene Dcdc2. Genes, brain, and behavior 7 29232042
2018 Worldwide distribution of the DCDC2 READ1 regulatory element and its relationship with phoneme variation across languages. Proceedings of the National Academy of Sciences of the United States of America 7 29666269
2017 Downregulation of microRNA-645 suppresses breast cancer cell metastasis via targeting DCDC2. European review for medical and pharmacological sciences 7 29028086
2023 Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children. Frontiers in pediatrics 6 36816379
2020 Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation. European journal of human genetics : EJHG 6 32203204
2018 [Neonatal sclerosing cholangitis caused by DCDC2 variations in two siblings and literature review]. Zhonghua er ke za zhi = Chinese journal of pediatrics 6 30078246
2021 Identifying Dyslexia: Link between Maze Learning and Dyslexia Susceptibility Gene, DCDC2, in Young Children. Developmental neuroscience 5 34186533
2019 Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report. American journal of medical genetics. Part A 5 31821705
2024 Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and NRSN1 are associated with brain function in fluently reading adolescents and young adults. Cerebral cortex (New York, N.Y. : 1991) 4 38610086
2023 Genetic and protein interaction studies between the ciliary dyslexia candidate genes DYX1C1 and DCDC2. BMC molecular and cell biology 4 37237337
2017 Study of Genetic Association With DCDC2 and Developmental Dyslexia in Hong Kong Chinese Children. Clinical practice and epidemiology in mental health : CP & EMH 4 29081827
2025 The DCDC2/ENO1 axis promotes tumor progression and immune evasion in intrahepatic cholangiocarcinoma via activating FGL1-LAG3 checkpoint. Journal of experimental & clinical cancer research : CR 3 40533767
2023 Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children. Liver international : official journal of the International Association for the Study of the Liver 2 36938759
2023 DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases. Diagnostics (Basel, Switzerland) 2 37296768
2022 Two Cases With Neonatal Cholestasis and Renal Disorders Due to DCDC2 Mutation. Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2 35570614
2020 DCDC2 READ1 regulatory element: how temporal processing differences may shape language. Proceedings. Biological sciences 2 32486976
2022 RPI-1 (human DCDC2) displays functional redundancy with Nephronophthisis 4 in regulating cilia biogenesis in C. elegans. Turkish journal of biology = Turk biyoloji dergisi 1 37529113
2018 A pilot Indian family-based association study between dyslexia and Reelin pathway genes, DCDC2 and ROBO1, identifies modest association with a triallelic unit TAT in the gene RELN. Asian journal of psychiatry 1 30199849
2026 Bronchiectasis in a child with a homozygous DCDC2 gene mutation: A case report. Journal of Taibah University Medical Sciences 0 41705222
2024 Portal hypertension in doublecortin domain-containing protein 2 (DCDC2)-related neonatal sclerosing cholangitis. Journal of pediatric gastroenterology and nutrition 0 39552453

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