Affinage

WDR62

WD repeat-containing protein 62 · UniProt O43379

Length
1518 aa
Mass
166.0 kDa
Annotated
2026-06-11
69 papers in source corpus 28 papers cited in narrative 28 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

WDR62 is a microcephaly-associated scaffold protein that couples mitotic spindle architecture, centriole/cilium dynamics, and stress-responsive JNK signaling to control the proliferation and identity of neural progenitors (PMID:20890278, PMID:20890279, PMID:24388750, PMID:27974163). Biallelic and missense mutations in WDR62 cause autosomal-recessive primary microcephaly (MCPH2), and disease-causing mutants fail to localize to the mitotic spindle pole, establishing spindle pole targeting as functionally essential (PMID:20890278, PMID:20890279). During interphase WDR62 resides at the Golgi and translocates to spindle poles in mitosis in a microtubule-dependent manner (PMID:37272619); its WD40 repeats mediate microtubule association while a disordered C-terminus controls cell-cycle compartmentalization (PMID:25501809). At spindle poles WDR62 acts as an adaptor that links TPX2/Aurora A to the microtubule-severing enzyme katanin, promoting minus-end depolymerization and poleward microtubule flux, with loss causing over-stabilized spindles and lagging chromosomes (PMID:34137788, PMID:34137789). Its activity is phospho-regulated: Aurora A promotes spindle localization, PLK1 phosphorylation at Ser897 drives astral microtubule assembly and correct spindle orientation, and JNK phosphorylation at T1053 inhibits microtubule binding and recruits FBW7 to trigger proteasomal degradation (PMID:25501809, PMID:28973348, PMID:30566428, PMID:34137789). Independently, WDR62 is a JNK scaffold that binds all three JNK isoforms through a C-terminal D-domain and assembles upstream activators (MKK7β1, MEKK3, TRAF2/MLK3) to control JNK output, neural progenitor self-renewal, and meiotic initiation (PMID:19910486, PMID:21749326, PMID:30091641, PMID:30566428). At the centriole WDR62 cooperates with ASPM to recruit CPAP/CENPJ and recruits CEP170 to drive KIF2A-dependent cilium disassembly, linking centriole biogenesis and ciliogenesis to timely progenitor cell-cycle progression (PMID:27974163, PMID:31197141, PMID:31816041). WDR62 additionally supports neuronal radial migration and, through direct interaction with the co-chaperone BAG2, stabilizes the purine-salvage enzyme HPRT to maintain purine homeostasis in neural precursors, a function disrupted by microcephaly mutations (PMID:40349858, PMID:41787126).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 2009 High

    Before any link to brain development, WDR62 was defined biochemically as a JNK-specific scaffold, establishing its first molecular activity.

    Evidence Co-IP, kinase assays, and stress-granule localization in HEK-293T cells

    PMID:19910486

    Open questions at the time
    • Did not identify the JNK-binding motif
    • Did not connect scaffolding to a developmental phenotype
  2. 2010 High

    Identification of WDR62 mutations in microcephaly families and its spindle-pole/neural-progenitor localization established WDR62 as a microcephaly gene acting in dividing neural precursors.

    Evidence Mutation sequencing plus immunofluorescence/fractionation in human and mouse embryonic brain and cell lines

    PMID:20729831 PMID:20890278 PMID:20890279

    Open questions at the time
    • Conflicting nuclear vs spindle-pole localization not reconciled
    • Mechanism linking spindle role to microcephaly unresolved
  3. 2011 High

    Mapping the C-terminal D-domain that binds JNK1/2/3 and direct binding to MKK7β1 defined how WDR62 physically assembles a JNK signaling module.

    Evidence Co-IP, domain mapping, and in vitro kinase inhibition with a synthetic docking peptide

    PMID:21749326

    Open questions at the time
    • Did not link the docking module to spindle function
    • In vivo relevance not yet shown
  4. 2014 High

    Genetic and physical coupling to Aurora A, and epistasis with JNK1 in progenitors, connected WDR62's spindle role and its signaling role to neurogenesis.

    Evidence Reciprocal co-IP, mouse knockout, in utero electroporation rescue with WT vs MCPH mutants, JNK1 depletion phenocopy

    PMID:24388750 PMID:24875059

    Open questions at the time
    • How Aurora A binding affects WDR62 at the molecular level not defined
    • Whether JNK and spindle functions are separable unclear
  5. 2015 High

    Domain and phospho-site dissection showed WD40 repeats mediate microtubule binding while Aurora A and JNK phosphorylation oppositely tune spindle targeting, defining the regulatory logic of WDR62 localization.

    Evidence Domain deletion, T1053 mutagenesis, co-IP, live-cell imaging, kinase assays

    PMID:25501809

    Open questions at the time
    • Downstream microtubule effector at the pole not identified
    • Mechanism of JNK-dependent compartment switch unresolved
  6. 2016 High

    WDR62 was placed in the centriole-duplication pathway by showing it cooperates with ASPM and CEP63 to recruit CPAP/CENPJ to the mother centriole.

    Evidence Reciprocal co-IP, superresolution microscopy, single and double mouse knockouts with epistasis

    PMID:27974163

    Open questions at the time
    • Order of recruitment among ASPM/CEP63/CPAP not fully resolved
    • Direct vs indirect CPAP recruitment unclear
  7. 2016 High

    Drosophila work established a conserved role in maintaining interphase MTOC activity and centrosome asymmetry via Polo/Plk1 and Plp regulation.

    Evidence Drosophila genetics, live imaging, centrosome marker analysis in wdr62 mutant neuroblasts

    PMID:26804909

    Open questions at the time
    • Whether the mammalian protein regulates Plk1 recruitment identically not shown here
    • Molecular link to Plp downregulation undefined
  8. 2017 Medium

    Identification of an Aurora B/CPC interaction and PLK1-mediated Ser897 phosphorylation extended WDR62's mitotic regulation to astral microtubule assembly and spindle orientation.

    Evidence Co-IP, patient fibroblast phenotyping, PLK1 kinase assay, CRISPR knock-in of an MCPH missense mutation

    PMID:28272472 PMID:28973348

    Open questions at the time
    • Aurora B interaction not reconstituted in vitro
    • Relationship between PLK1 and Aurora A inputs not integrated
  9. 2018 High

    WDR62 was shown to scaffold a TNFα-responsive JNK activation module (TRAF2/MLK3, MEKK3) and to be reciprocally stabilized by that signaling, with T1053-dependent FBW7 degradation completing a feedback loop controlling progenitor differentiation and meiotic initiation.

    Evidence CRISPR/shRNA knockout, co-IP with TRAF2/MLK3/MEKK3, mouse conditional knockouts, phospho/degradation assays, JNK1 rescue of meiosis

    PMID:30091641 PMID:30102701 PMID:30566428

    Open questions at the time
    • Stoichiometry of the multi-kinase scaffold unknown
    • How spindle pool and signaling pool of WDR62 are partitioned unclear
  10. 2019 High

    WDR62 was placed at the basal body controlling cilium disassembly by recruiting CEP170 and thereby KIF2A, linking ciliary dynamics to progenitor cell-cycle progression across cilia and meiotic spindle contexts.

    Evidence Co-IP, mouse knockout and cerebral organoid models, KIF2A rescue, oocyte siRNA with Arp2/3 analysis, spermatocyte knockout

    PMID:31197141 PMID:31533924 PMID:31836472

    Open questions at the time
    • Whether CEP170 recruitment is direct not established
    • Link between ciliary and spindle functions of WDR62 unresolved
  11. 2020 High

    Patient-mutation knock-in mice showed specific MCPH mutants reach the basal body but fail to recruit CPAP and IFT88, defining a separation-of-function mechanism for ciliogenesis defects.

    Evidence CRISPR knock-in mouse models, immunofluorescence for CPAP/IFT88, cilia assays

    PMID:31816041

    Open questions at the time
    • Why these mutants localize but fail to recruit cargo not structurally explained
    • Relative contributions of cilia vs spindle defects to microcephaly unquantified
  12. 2021 High

    In vitro reconstitution defined WDR62 as the adaptor that bridges TPX2/Aurora A to katanin to drive minus-end microtubule severing, mechanistically explaining spindle over-stabilization upon loss.

    Evidence siRNA/CRISPR knockout with live imaging and microtubule dynamics, plus in vitro reconstitution, severing assays, and phospho-mutagenesis

    PMID:34137788 PMID:34137789

    Open questions at the time
    • How JNK-induced autoinhibition is relieved at the pole not defined
    • Connection of katanin axis to microcephaly mutations not directly tested
  13. 2022 Medium

    Extension to non-neural mitotic tissues (cardiomyocytes, spermatocytes, oocytes) generalized the WDR62–Aurora A spindle-assembly axis as a broad regulator of proliferation and faithful chromosome segregation.

    Evidence Co-IP, knockouts, RNA-seq, oocyte siRNA with SAC and JNK readouts, centriole/manchette phenotyping

    PMID:34059773 PMID:35093571 PMID:35808830

    Open questions at the time
    • Tissue-specific vs core mechanisms not separated
    • Direct transcriptional vs indirect effects on cell-cycle genes unclear
  14. 2023 High

    Human iPSC and fetal-tissue models showed WDR62 shuttles from Golgi to spindle poles microtubule-dependently and that truncating mutations alter neurogenic trajectories, anchoring the mechanism in human cells.

    Evidence iPSC neural models with isogenic correction, live imaging, fetal brain immunofluorescence, microtubule depolymerization

    PMID:37272619

    Open questions at the time
    • Functional significance of the Golgi pool undefined
    • How truncation alters trajectories mechanistically not resolved
  15. 2025 Medium

    WDR62 was shown to act beyond mitosis in post-mitotic neurons, controlling multipolar-to-bipolar transition and radial migration with reduced Reelin in deficient brains.

    Evidence In utero electroporation with NPC- and neuron-specific ablation, migration markers, Reelin Western blot

    PMID:40349858

    Open questions at the time
    • Whether the migration role is independent of the spindle/centriole function unclear
    • Mechanism linking WDR62 to Reelin levels unknown
  16. 2026 High

    A metabolic function was uncovered: WDR62 binds BAG2 to stabilize HPRT and sustain purine homeostasis, with microcephaly mutations disrupting this interaction, adding a chaperone/metabolic arm to its progenitor role.

    Evidence Co-IP, purine metabolomics, BAG2 knockdown rescue, mutant co-IP, in utero depletion of WDR62 or HPRT; plus myoblast/Drosophila centriole-cohesion phenotyping

    PMID:41535485 PMID:41787126

    Open questions at the time
    • How a spindle/centriole scaffold also acts in purine metabolism mechanistically unclear
    • Whether metabolic and cytoskeletal defects contribute independently to microcephaly untested

Open questions

Synthesis pass · forward-looking unresolved questions
  • It remains unresolved how WDR62's distinct pools (Golgi, spindle pole, basal body, stress granule/chaperone) are partitioned and which functions are primary drivers of microcephaly.
  • No unified model integrating spindle, ciliary, signaling, and metabolic roles
  • No structural basis for how phosphorylation switches between functional pools
  • Relative phenotypic weight of each axis in human disease unquantified

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008092 cytoskeletal protein binding 3 GO:0060090 molecular adaptor activity 3 GO:0098772 molecular function regulator activity 3
Localization
GO:0005815 microtubule organizing center 4 GO:0005929 cilium 2 GO:0005634 nucleus 1 GO:0005794 Golgi apparatus 1 GO:0005829 cytosol 1
Pathway
R-HSA-162582 Signal Transduction 4 R-HSA-1266738 Developmental Biology 3 R-HSA-1640170 Cell Cycle 3 R-HSA-1852241 Organelle biogenesis and maintenance 3
Partners
ASPMAURKABAG2CEP170JNK1MEKK3MKK7TRAF2

Evidence

Reading pass · 28 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2010 WDR62 protein is enriched in neural progenitors within the ventricular and subventricular zones during embryonic neurogenesis and is predominantly nuclear in localization (unlike other microcephaly genes that associate with centrosomes). Immunofluorescence and subcellular fractionation in mouse and human embryonic brain tissue Nature Medium 20729831
2010 WDR62 localizes to the spindle poles of dividing cells; missense and frame-shifting mutations in MCPH families cause microcephaly, and WDR62 expression is restricted to neural precursors undergoing mitosis in embryonic brain. Immunofluorescence in human cell lines and embryonic brain tissue; mutation identification by sequencing Nature genetics High 20890278 20890279
2010 Mutant WDR62 proteins failed to localize to the mitotic spindle pole, establishing that spindle pole localization is functionally required and disrupted by MCPH-causing mutations. Immunofluorescence of endogenous and mutant WDR62 in human cell lines Nature genetics High 20890279
2009 WDR62 is a JNK scaffold protein that specifically associates with JNK (but not ERK or p38), potentiates JNK kinase activity, and inhibits AP-1 transcription by sequestering JNK to a non-nuclear (cytoplasmic granular) compartment. Under stress, WDR62 is recruited to stress granules and activated JNK is recruited to processing bodies. Co-immunoprecipitation, kinase activity assays, overexpression/localization studies in HEK-293T cells, stress granule co-localization Molecular biology of the cell High 19910486
2011 WDR62 interacts directly with JNK1, JNK2, and JNK3 through a D-domain motif at its C-terminus; also interacts directly with the JNK-activating kinase MKK7β1 (but not MKK7α1) independently of JNK binding. A synthetic peptide of the WDR62 docking domain inhibits JNK2 activity in vitro. WDR62 association with JNK2 requires both the JNK CD and ED domains. Co-immunoprecipitation of endogenous and overexpressed proteins, direct protein-protein interaction mapping, in vitro kinase inhibition assay with synthetic peptide The Biochemical journal High 21749326
2014 WDR62 associates with Aurora A kinase and genetically interacts with Aurora A to regulate spindle formation and mitotic progression. Wdr62-depleted neural progenitor cells show spindle instability, spindle assembly checkpoint (SAC) activation, mitotic arrest, and cell death, leading to reduced brain size in mice. Co-immunoprecipitation, mouse Wdr62 knockout model, genetic interaction analysis, immunofluorescence for spindle markers and SAC components Nature communications High 24875059
2014 WDR62 acts upstream of JNK1 signaling to control neurogenesis; WDR62 knockdown causes premature differentiation of neural progenitor cells (NPCs) with abnormal spindle formation that is rescued by wild-type WDR62 but not by five MCPH-associated WDR62 mutants, and JNK1 depletion phenocopies WDR62 loss. In utero electroporation knockdown, rescue experiments with WT vs. mutant WDR62, JNK1 depletion in developing cortex Cell reports High 24388750
2015 The WD40-repeat region of WDR62 is required for microtubule association; the disordered C-terminal region regulates cell-cycle-dependent compartmentalization. WDR62 specifically recruits JNK1 (but not JNK2) to the spindle pole. JNK-mediated phosphorylation of WDR62 at T1053 negatively regulates microtubule association (loss of JNK signaling causes constitutive WDR62 localization to microtubules). Aurora A kinase (AURKA) is in complex with WDR62 and AURKA-mediated phosphorylation is required for spindle localization of WDR62 during mitosis. Domain deletion mapping, phosphorylation site mutagenesis, co-immunoprecipitation, live-cell imaging, kinase assays Journal of cell science High 25501809
2016 WDR62 and ASPM interact physically and co-localize to the proximal end of the mother centriole; WDR62 is required for ASPM localization. Both WDR62 and ASPM are required (along with CEP63) to localize CENPJ/CPAP/Sas-4 to the centriole. Loss of WDR62 or ASPM causes centriole duplication defects and abnormal apical complex localization leading to premature progenitor delamination. Co-immunoprecipitation, superresolution microscopy, mouse genetic knockouts (single and double), genetic epistasis Neuron High 27974163
2016 In Drosophila neuroblasts, Wdr62 (CG7337) maintains active interphase microtubule-organizing center (MTOC) activity by stabilizing microtubules, which is necessary for sustained recruitment of Polo/Plk1 to the pericentriolar matrix (PCM) and for downregulation of Pericentrin-like protein (Plp), thereby regulating centrosome asymmetry, spindle orientation, and biased centrosome segregation. Drosophila genetics, live imaging, immunofluorescence, centrosome marker analysis in wdr62 mutant neuroblasts Cell reports High 26804909
2017 WDR62 interacts with Aurora kinase B (the core enzyme of the chromosome passenger complex, CPC), and this interaction requires wild-type WDR62 (disease-associated mutant forms fail to interact). CPC component staining at centromeres is altered in patient-derived fibroblasts, and asymmetric centrosome inheritance and mitotic progression are defective in patient fibroblasts. Co-immunoprecipitation of WDR62 with Aurora kinase B, immunofluorescence in patient-derived fibroblasts and mouse neocortical progenitors Scientific reports Medium 28272472
2017 PLK1 phosphorylates WDR62 at Ser897; this phosphorylation at spindle poles promotes astral microtubule assembly and stabilizes mitotic spindle orientation. WDR62/MCPH2 mutant cells exhibit randomized spindle orientation due to impaired astral microtubule assembly. CRISPR/Cas9 knock-in of WDR62 missense mutation in human cells, PLK1 kinase assay, immunofluorescence for astral microtubules and spindle orientation Human molecular genetics Medium 28973348
2018 WDR62 specifically mediates TNFα-dependent JNK activation through association with both the adaptor protein TRAF2 and the MAP3K protein MLK3 (mixed lineage kinase 3). WDR62 is also responsible for basal c-Jun expression in growing cells. WDR62 knockout cells show increased resistance to TNFα-induced cell death. CRISPR/Cas9 and shRNA WDR62 knockout in MDA-MB-231 cells, co-immunoprecipitation of WDR62 with TRAF2 and MLK3, JNK activation assays Molecular biology of the cell Medium 30091641
2018 MEKK3 forms a complex with WDR62 and promotes JNK signaling synergistically. WDR62 protein stability is positively regulated by MEKK3 and JNK1. WDR62 is negatively regulated by T1053 phosphorylation, which recruits FBW7 leading to proteasomal degradation. Deletion of Mekk3, Wdr62, or Jnk1 results in phenocopied premature NPC differentiation defects. Co-immunoprecipitation, mouse conditional knockouts, transgenic JNK1 rescue, phosphorylation site mutagenesis, proteasome inhibitor experiments PLoS biology High 30566428
2018 Wdr62 is required for retinoic acid (RA)-induced Stra8 expression via activation of JNK signaling during female meiotic initiation in mice; defects in meiotic initiation in Wdr62-deficient female mice can be partially rescued by JNK1 overexpression in germ cells. Mouse Wdr62 knockout, JNK1 overexpression rescue, Stra8 expression analysis PLoS genetics Medium 30102701
2019 WDR62 interacts with CEP170 and promotes CEP170 localization to the basal body of primary cilia; CEP170 in turn recruits the microtubule-depolymerizing factor KIF2A to disassemble the cilium. WDR62 depletion reduces KIF2A's basal body localization, causing retarded cilium disassembly, elongated cilia, and delayed cell cycle progression in neural progenitors. Co-immunoprecipitation of WDR62-CEP170 and CEP170-KIF2A, mouse knockout and cerebral organoid models, rescue by enhanced KIF2A expression, immunofluorescence Nature communications High 31197141
2019 WDR62 interacts with CEP170 in spermatocytes; deletion of Wdr62 causes downregulation of CEP170 protein, leading to aberrant spindle assembly and metaphase I arrest in spermatogenesis. Co-immunoprecipitation, mouse Wdr62 knockout, immunofluorescence for spindle markers and CEP170 Development (Cambridge, England) Medium 31533924
2019 WDR62 co-localizes with chromosomes during mouse oocyte meiotic maturation and is required for asymmetric spindle positioning and actin cap formation. WDR62 depletion disrupts the Arp2/3 complex (an upstream regulator of cortical actin) and blocks asymmetric spindle positioning, causing large polar body extrusion. siRNA microinjection in mouse oocytes, immunofluorescence for spindle and actin markers, Arp2/3 localization analysis Experimental cell research Medium 31836472
2020 WDR62 mutant proteins (V66M and R439H) localize to the basal body but fail to recruit CPAP; as a consequence, IFT88 (required for cilia formation) is not recruited, leading to deficient ciliogenesis, premature differentiation of radial glia, and cortical thinning. CRISPR/Cas9 knockin mouse models with patient-derived missense mutations, immunofluorescence for CPAP and IFT88, cilia formation assays Human molecular genetics High 31816041
2021 WDR62 localizes katanin to the spindle pole; WDR62 depletion or knockout stabilizes spindle microtubules due to insufficient microtubule minus-end depolymerization, impairs poleward microtubule flux, and causes asynchronous poleward movements in anaphase, leading to lagging chromosomes. siRNA depletion and CRISPR/Cas9 knockout in human epithelial cells, live-cell imaging, microtubule dynamics assays, immunofluorescence The Journal of cell biology High 34137788
2021 WDR62 recruits katanin to the spindle pole and functions as an adaptor protein between TPX2/Aurora A (recruiting factor) and katanin (effector). WDR62 complexed with TPX2/Aurora A can potently promote katanin-mediated severing of GDP-MTs in vitro. WDR62 shows preference for curved segments of dynamic GDP-MTs. JNK phosphorylation induces autoinhibition of WDR62's MT-binding affinity through intramolecular interaction. In vitro microtubule binding and severing assays, co-immunoprecipitation, phosphorylation site mutagenesis, in vitro reconstitution with purified proteins The Journal of cell biology High 34137789
2021 WDR62 is required for centriole duplication in spermatocytes; WDR62 deficiency causes reduced/delayed CEP63 accumulation in the pericentriolar matrix, centriole underduplication, and prolonged metaphase leading to apoptosis. In spermatids, WDR62 deficiency delays manchette removal due to delayed Katanin p80 accumulation in the manchette. WDR62 genetrap mouse model, immunofluorescence for centriole and manchette markers, spermatogenesis staging Communications biology Medium 34059773
2022 WDR62 deficiency weakens the association between WDR62 and AURKA on spindle poles, reduces AURKA phosphorylation, and decreases expression of target genes related to cell cycle and spindle assembly shared by WDR62 and AURKA, resulting in cell cycle arrest and multipolar spindles that inhibit cardiomyocyte proliferation. Co-immunoprecipitation of WDR62 with AURKA, mouse Wdr62 knockout, RNA-seq, immunofluorescence in cardiomyocytes Clinical and translational medicine Medium 35808830
2022 WDR62 depletion in mouse oocytes disrupts meiotic cell cycle progression with metaphase-I arrest, severe spindle abnormality, chromosome misalignment, and aneuploidy; causes defective kinetochore-microtubule attachments and activates the spindle assembly checkpoint (SAC). WDR62 depletion is associated with aberrant p-JNK localization/reduced expression and altered H3K9 trimethylation status. siRNA microinjection in mouse oocytes, immunofluorescence for spindle/kinetochore markers, SAC markers, JNK inhibitor (SP600125) phenocopy The international journal of biochemistry & cell biology Medium 35093571
2023 WDR62 localizes to the Golgi apparatus during interphase in cultured cells and human fetal brain tissue, and translocates to the mitotic spindle poles in a microtubule-dependent manner. A C-terminal truncating mutation (D955AfsX112) impairs this localization and mitotic progression, and alters neurogenic trajectories in iPSC-derived neural models. iPSC-derived neural models from patient and isogenic corrected lines, live-cell imaging, immunofluorescence in human fetal brain tissue, microtubule depolymerization experiments eLife High 37272619
2025 WDR62 ablation in neural progenitor cells or post-mitotic neurons impedes cortical neuronal radial migration; WDR62 modulates the transition from multipolar to bipolar states in migrating neurons. Levels of Reelin (a key modulator of neuronal migration) are significantly reduced in Wdr62-deficient mouse brains. In utero electroporation in mice (NPC-specific and post-mitotic neuron-specific ablation), immunofluorescence for migration markers, Western blot for Reelin Neurobiology of disease Medium 40349858
2026 WDR62 interacts directly with BAG2 (a co-chaperone of HSP70/90); under stress, WDR62 and BAG2 re-localize to cytoplasmic granules enriched for purine synthesis (PFAS) and salvage (HPRT) enzymes. In WDR62-deficient cells, purine synthesis is impaired and HPRT is destabilized due to elevated BAG2 levels; BAG2 knockdown restores HPRT levels. Microcephaly-associated WDR62 mutations disrupt BAG2 interaction and fail to restore HPRT levels. In utero depletion of WDR62 or HPRT causes premature delamination and migration of neural precursor cells. Co-immunoprecipitation, metabolomics/purine assays, BAG2 knockdown rescue, in utero electroporation, microcephaly mutant co-IP The EMBO journal High 41787126
2026 WDR62 deficiency leads to increased centriole numbers and centriole cohesion defects in C2C12 myoblasts, causing decreased myoblast proliferation and premature differentiation. In Drosophila, Wdr62 knockdown in wing disc increases asymmetric myoblast division. WDR62 knockout in C2C12 myoblasts and mouse models, cardiotoxin injury model, Drosophila wing disc knockdown, centrosome marker immunofluorescence Communications biology Medium 41535485

Source papers

Stage 0 corpus · 69 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2010 Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 388 20729831
2010 Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nature genetics 234 20890278
2010 WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nature genetics 230 20890279
2019 Modeling microcephaly with cerebral organoids reveals a WDR62-CEP170-KIF2A pathway promoting cilium disassembly in neural progenitors. Nature communications 161 31197141
2014 Microcephaly disease gene Wdr62 regulates mitotic progression of embryonic neural stem cells and brain size. Nature communications 131 24875059
2016 Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Neuron 116 27974163
1999 The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. European journal of human genetics : EJHG 83 10573015
2009 A novel c-Jun N-terminal kinase (JNK)-binding protein WDR62 is recruited to stress granules and mediates a nonclassical JNK activation. Molecular biology of the cell 76 19910486
2014 Microcephaly-associated protein WDR62 regulates neurogenesis through JNK1 in the developing neocortex. Cell reports 66 24388750
2011 Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. Clinical genetics 53 21496009
2016 The Microcephaly-Associated Protein Wdr62/CG7337 Is Required to Maintain Centrosome Asymmetry in Drosophila Neuroblasts. Cell reports 48 26804909
2011 Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. American journal of medical genetics. Part A 42 21834044
2015 Opposing roles for JNK and Aurora A in regulating the association of WDR62 with spindle microtubules. Journal of cell science 40 25501809
2017 Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. Scientific reports 37 28272472
2020 The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development. Human molecular genetics 35 31816041
2014 Severe presentation of WDR62 mutation: is there a role for modifying genetic factors? American journal of medical genetics. Part A 35 24842779
2020 An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan. Molecular genetics & genomic medicine 32 32677750
2013 Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation. Orphanet journal of rare diseases 32 24228726
2011 Docking interactions of the JNK scaffold protein WDR62. The Biochemical journal 32 21749326
2018 Wdr62 is involved in female meiotic initiation via activating JNK signaling and associated with POI in humans. PLoS genetics 31 30102701
2017 PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation. Human molecular genetics 30 28973348
2011 Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly. BMC neurology 30 21961505
2017 Glial-Specific Functions of Microcephaly Protein WDR62 and Interaction with the Mitotic Kinase AURKA Are Essential for Drosophila Brain Growth. Stem cell reports 27 28625535
2021 WDR62 regulates spindle dynamics as an adaptor protein between TPX2/Aurora A and katanin. The Journal of cell biology 24 34137789
2017 The Role of WD40-Repeat Protein 62 (MCPH2) in Brain Growth: Diverse Molecular and Cellular Mechanisms Required for Cortical Development. Molecular neurobiology 23 28940170
2019 WDR62 is involved in spindle assembly by interacting with CEP170 in spermatogenesis. Development (Cambridge, England) 22 31533924
2013 Overexpression of WDR62 is associated with centrosome amplification in human ovarian cancer. Journal of ovarian research 22 23898938
2019 A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature. Journal of applied genetics 20 30706430
2019 Tumor‑suppressive microRNA‑223 targets WDR62 directly in bladder cancer. International journal of oncology 19 30942440
2018 WDR62 mediates TNFα-dependent JNK activation via TRAF2-MLK3 axis. Molecular biology of the cell 17 30091641
2017 A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family. Annals of Saudi medicine 17 28377545
2018 MEKK3 coordinates with FBW7 to regulate WDR62 stability and neurogenesis. PLoS biology 16 30566428
2017 A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability. Brain & development 16 28756000
2012 A novel WDR62 mutation causes primary microcephaly in a Pakistani family. Molecular biology reports 16 23065275
2023 Microcephaly-associated protein WDR62 shuttles from the Golgi apparatus to the spindle poles in human neural progenitors. eLife 14 37272619
2022 WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation. Clinical and translational medicine 14 35808830
2017 WDR62 Regulates Early Neural and Glial Progenitor Specification of Human Pluripotent Stem Cells. Stem cells international 14 28690640
2016 Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly. Congenital anomalies 14 26577670
2021 WDR62 localizes katanin at spindle poles to ensure synchronous chromosome segregation. The Journal of cell biology 13 34137788
2016 Molecular evolution of WDR62, a gene that regulates neocorticogenesis. Meta gene 13 27114917
2020 Elevated levels of Drosophila Wdr62 promote glial cell growth and proliferation through AURKA signalling to AKT and MYC. Biochimica et biophysica acta. Molecular cell research 12 32246948
2020 The Spindle-Associated Microcephaly Protein, WDR62, Is Required for Neurogenesis and Development of the Hippocampus. Frontiers in cell and developmental biology 12 33042990
2012 WDR62 missense mutation in a consanguineous family with primary microcephaly. American journal of medical genetics. Part A 12 22308068
2022 WDR62-deficiency Causes Autism-like Behaviors Independent of Microcephaly in Mice. Neuroscience bulletin 11 36571716
2018 A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report. BMC medical genetics 11 30021525
2014 A novel single base pair duplication in WDR62 causes primary microcephaly. BMC medical genetics 11 25303973
2021 Pathophysiological Significance of WDR62 and JNK Signaling in Human Diseases. Frontiers in cell and developmental biology 10 33937237
2021 Systematic Analysis of the Oncogenic Role of WDR62 in Human Tumors. Disease markers 10 34306258
2019 Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report. Frontiers in pediatrics 10 31788460
2016 Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2. Oncotarget 10 27852057
2021 Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ. Genes 9 34068194
2022 WDR62 regulates mouse oocyte meiotic maturation related to p-JNK and H3K9 trimethylation. The international journal of biochemistry & cell biology 8 35093571
2021 Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene. Genes 8 33921653
2021 WDR62 is required for centriole duplication in spermatogenesis and manchette removal in spermiogenesis. Communications biology 8 34059773
2022 WD repeat domain 62 (WDR62) promotes resistance of colorectal cancer to oxaliplatin through modulating mitogen-activated protein kinase (MAPK) signaling. Bioengineered 6 35758246
2022 Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes. Molecular syndromology 6 36588751
2019 Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family. Pakistan journal of medical sciences 6 31258591
2019 WDR62 is a novel participator in spindle migration and asymmetric cytokinesis during mouse oocyte meiotic maturation. Experimental cell research 5 31836472
2016 The genetic epidemiology of the form of microcephaly ascribed to mutation at the WDR62 locus. Annals of translational medicine 5 27570775
2024 Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript. Frontiers in neurology 3 38576530
2022 Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly. Irish journal of medical science 3 35031939
2025 WDR62 mediates MAPK/ERK pathway to stimulate DNA damage repair and attenuate cisplatin sensitivity in lung adenocarcinoma. Anti-cancer drugs 2 39808528
2025 WDR62 controls cortical radial migration and callosal projection of neurons in the developing cerebral cortex. Neurobiology of disease 1 40349858
2024 Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly. Molecular biology reports 1 38926176
2026 WDR62 is required for proper proliferation and early differentiation of skeletal myoblasts. Communications biology 0 41535485
2026 Microcephaly-associated protein WDR62 supports purine metabolism by interacting with co-chaperone BAG2. The EMBO journal 0 41787126
2026 Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases. Molecular genetics & genomic medicine 0 42002830
2025 [A case of primary microcephaly associated with compound heterozygous variants of WDR62 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 40350396
2025 WDR62 affects the progression of ovarian cancer by regulating the cell cycle. Hereditas 0 40369663

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