Recombinant Human WD repeat-containing protein 62 (WDR62), partial

1. Our findings demonstrate critical and diverse functions of WDR62 in neocortical development and provide insight into the mechanisms by which its disruption leads to a plethora of structural abnormalities. PMID: 28272472
2. We report a clinical feature, electroclinical findings, and clinical course of a patient with a severe phenotype of MCPH2 including microcephaly, refractory infantile spasms and intellectual disability. We detected a new homozygous splicing variant c.3335+1G>C in the WD repeat domain 62 (WDR62) gene, and an additional new heterozygous missense mutation c.1706T>A of G protein-coupled receptor 56 (GPR56) gene PMID: 28756000
3. Authors demonstrated that WDR62 is a PLK1 substrate that is phosphorylated at Ser 897, and that this phosphorylation at the spindle poles promotes astral microtubule assembly to stabilize spindle orientation. PMID: 28973348
4. Case Report: WDR62 missence mutations associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2. PMID: 27852057
5. WDR62-overexpressing lung cancer cells exhibited an increase in cell growth. Moreover, the concurrent overexpression of WDR62 and TPX2, a WDR62-interacting protein that is also overexpressed in lung adenocarcinoma, induced centrosome amplification in the lung cells. PMID: 28277612
6. A novel WDR62 missense mutation causes primary microcephaly in a large consanguineous Saudi family PMID: 28377545
7. The results confirm that mutations in ASPM or WDR62 are the major cause of autosomal recessive primary microcephaly in the Pakistani population. PMID: 27784895
8. Data show that CUL4B variants are associated with a wide range of cerebral malformations and suggest an important role in brain through its interaction with WDR62, a protein in which variants were identified in patients with cerebral malformations. PMID: 25385192
9. Genetic factors contribute to modify the severity of the WDR62 phenotype. PMID: 24842779
10. WDR62 controls neurogenesis through JNK signaling in rat model. PMID: 24388750
11. Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation PMID: 24228726
12. WDR62 may be a novel prognostic marker and a potential chemotherapy target for gastric cancer. PMID: 23920402
13. A homozygous deletion mutation c.1143delA was detected in exon 9 of WDR62 gene, in all affected individuals with primary microcephaly in a Pakistani family, which resulted in frameshift and protein truncation (p.H381PfsX48). PMID: 23065275
14. Data indicate that WDR62 dimerization is required for JNK2 and MKK7beta1 recruitment. PMID: 23341463
15. homozygous missense mutation in WDR62, p.E400K, was found in both boys and segregated with the condition in this family. WDR62 is one of seven genes responsible for autosomal recessive primary microcephaly PMID: 22308068
16. Mutations in WDR62 gene leads to microcephaly and other brain malformations. PMID: 21496009
17. study reports using whole-exome sequencing to identify compound heterozygous mutations in the WD repeat domain 62 (WDR62) gene as the cause of recurrent polymicrogyria in a sibling pair PMID: 21834044
18. data indicate that WDR62 mutations cause about 4% of autosomal recessive primary microcephaly in Pakistan. PMID: 21961505
19. The docking domain of WDR62 interacts with all JNK isoforms through a D domain motif located at the C-terminus. PMID: 21749326
20. Homozygous mutations in WDR62 cause autosomal recessive primary microcephaly in families linked to the MCPH2 locus. This gene encodes a centrosomal as well as nuclear protein. PMID: 21496009
21. The diverse phenotypes of WDR62 suggest it has central roles in many aspects of cerebral cortical development and that mutations cause microencephaly. PMID: 20890278
22. Identification of WDR62 as the second most common cause of second most common cause of autosoml reccessive microcephaly. PMID: 20890279
23. WDR62 mutations found in individuals with microcephaly associated with a broad range of malformations of cortical development. PMID: 20980985
24. Study demonstrates the use of whole-exome sequencing to identify recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly. PMID: 20729831
25. JNK and WDR62 may regulate the dynamic interplay between polysomes stress granule and processing bodies, thereby mediating mRNA fate after stress. PMID: 19910486

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HGNC: 24502

OMIM: 604317

KEGG: hsa:284403

STRING: 9606.ENSP00000384792

UniGene: Hs.116244