Property Summary

NCBI Gene PubMed Count 31
Grant Count 9
R01 Count 3
Funding $1,213,916.5
PubMed Score 28.41
PubTator Score 31.66

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma 1.400 0.000
acute quadriplegic myopathy -1.357 0.000

Gene RIF (18)

PMID Text
25385192 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.
24842779 Genetic factors contribute to modify the severity of the WDR62 phenotype.
24388750 WDR62 controls neurogenesis through JNK signaling in rat model.
24228726 Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation
23920402 WDR62 may be a novel prognostic marker and a potential chemotherapy target for gastric cancer.
23341463 Data indicate that WDR62 dimerization is required for JNK2 and MKK7beta1 recruitment.
23065275 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).
22308068 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
21961505 data indicate that WDR62 mutations cause about 4% of autosomal recessive primary microcephaly in Pakistan.
21834044 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
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AA Sequence

MAAVGSGGYARNDAGEKLPSVMAGVPARRGQSSPPPAPPICLRRRTRLSTASEETVQNRVSLEKVLGITA      1 - 70
QNSSGLTCDPGTGHVAYLAGCVVVILDPKENKQQHIFNTARKSLSALAFSPDGKYIVTGENGHRPAVRIW     71 - 140
DVEEKNQVAEMLGHKYGVACVAFSPNMKHIVSMGYQHDMVLNVWDWKKDIVVASNKVSCRVIALSFSEDS    141 - 210
SYFVTVGNRHVRFWFLEVSTETKVTSTVPLVGRSGILGELHNNIFCGVACGRGRMAGSTFCVSYSGLLCQ    211 - 280
FNEKRVLEKWINLKVSLSSCLCVSQELIFCGCTDGIVRIFQAHSLHYLANLPKPHYLGVDVAQGLEPSFL    281 - 350
FHRKAEAVYPDTVALTFDPIHQWLSCVYKDHSIYIWDVKDINRVGKVWSELFHSSYVWNVEVYPEFEDQR    351 - 420
ACLPSGSFLTCSSDNTIRFWNLDSSPDSHWQKNIFSNTLLKVVYVENDIQHLQDMSHFPDRGSENGTPMD    421 - 490
VKAGVRVMQVSPDGQHLASGDRSGNLRIHELHFMDELVKVEAHDAEVLCLEYSKPETGLTLLASASRDRL    491 - 560
IHVLNVEKNYNLEQTLDDHSSSITAIKFAGNRDIQMISCGADKSIYFRSAQQGSDGLHFVRTHHVAEKTT    561 - 630
LYDMDIDITQKYVAVACQDRNVRVYNTVNGKQKKCYKGSQGDEGSLLKVHVDPSGTFLATSCSDKSISVI    631 - 700
DFYSGECIAKMFGHSEIITSMKFTYDCHHLITVSGDSCVFIWHLGPEITNCMKQHLLEIDHRQQQQHTND    701 - 770
KKRSGHPRQDTYVSTPSEIHSLSPGEQTEDDLEEECEPEEMLKTPSKDSLDPDPRCLLTNGKLPLWAKRL    771 - 840
LGDDDVADGLAFHAKRSYQPHGRWAERAGQEPLKTILDAQDLDCYFTPMKPESLENSILDSLEPQSLASL    841 - 910
LSESESPQEAGRGHPSFLPQQKESSEASELILYSLEAEVTVTGTDSQYCRKEVEAGPGDQQGDSYLRVSS    911 - 980
DSPKDQSPPEDSGESEADLECSFAAIHSPAPPPDPAPRFATSLPHFPGCAGPTEDELSLPEGPSVPSSSL    981 - 1050
PQTPEQEKFLRHHFETLTESPCRALGDVEASEAEDHFFNPRLSISTQFLSSLQKASRFTHTFPPRATQCL   1051 - 1120
VKSPEVKLMDRGGSQPRAGTGYASPDRTHVLAAGKAEETLEAWRPPPPCLTSLASCVPASSVLPTDRNLP   1121 - 1190
TPTSAPTPGLAQGVHAPSTCSYMEATASSRARISRSISLGDSEGPIVATLAQPLRRPSSVGELASLGQEL   1191 - 1260
QAITTATTPSLDSEGQEPALRSWGNHEARANLRLTLSSACDGLLQPPVDTQPGVTVPAVSFPAPSPVEES   1261 - 1330
ALRLHGSAFRPSLPAPESPGLPAHPSNPQLPEARPGIPGGTASLLEPTSGALGLLQGSPARWSEPWVPVE   1331 - 1400
ALPPSPLELSRVGNILHRLQTTFQEALDLYRVLVSSGQVDTGQQQARTELVSTFLWIHSQLEAECLVGTS   1401 - 1470
VAPAQALPSPGPPSPPTLYPLASPDLQALLEHYSELLVQAVRRKARGH                         1471 - 1518
//

Text Mined References (39)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26297806 2015 Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.
25416956 2014 A proteome-scale map of the human interactome network.
25385192 2015 Variants in CUL4B are associated with cerebral malformations.
24842779 2014 Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?
24388750 2014 Microcephaly-associated protein WDR62 regulates neurogenesis through JNK1 in the developing neocortex.
24228726 2013 Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.
23920402 2013 WD40 repeat-containing 62 overexpression as a novel indicator of poor prognosis for human gastric cancer.
23341463 2013 Identification and analysis of a novel dimerization domain shared by various members of c-Jun N-terminal kinase (JNK) scaffold proteins.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
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