CUL4B, cullin 4B, 8450

N. diseases: 162; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		0.100 Biomarker phenotype HPO
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 GeneticVariation phenotype BEFREE Screening of potential mRNAs targeted by miR-194/192 revealed that expression of genes involved in glucose metabolism (glycogenin 1 (<i>Gyg1</i>)), cell adhesion and migration (activated leukocyte cell adhesion molecule (<i>Alcam</i>)), tumorigenesis and tumor progression (<i>Rap2b</i> and epiregulin (<i>Ereg</i>)), protein SUMOylation (<i>Sumo2</i>), epigenetic regulation (<i>Setd5</i> and Cullin 4B (<i>Cln4b</i>)), and the epithelial-mesenchymal transition (moesin (<i>Msn</i>)) was up-regulated in <i>Hnf4a</i><sup>ΔH</sup> mice. 28465351 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.070 Biomarker phenotype BEFREE Taken together, these results suggest that knockdown of CUL4B inhibited the proliferation and invasion through suppressing the Wnt/β-catenin signaling pathway in NSCLC cells. 27656838 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.070 Biomarker phenotype BEFREE Silencing of CUL4B also resulted in decreased Wnt and β‑catenin expression, but increased expression of GSK‑3β, caspase‑3 and cyclin E. These results indirectly demonstrate that CUL4B enhances the proliferation and invasion abilities of gastric cancer cells by upregulating the constituent factors Wnt and β‑catenin, as well as by negatively regulating the mRNA and protein expression of GSK‑3β, caspase‑3 and cyclin E. The potential mechanism of CUL4B highlighted in the present study may be helpful for the treatment of patients with gastric cancer. 29393470 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.070 Biomarker phenotype BEFREE We demonstrated that CUL4B promotes cell proliferation and invasion, which are consistent with a tumorigenic phenotype, at least partially by repressing IGFBP3. 24292684 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.070 AlteredExpression phenotype BEFREE Our results show that both CUL4A and CUL4B are overexpressed in the majority of lung carcinomas (<i>P</i><sub>CUL4A</sub> <0.001 and <i>P</i><sub>CUL4B</sub> <0.001) and significantly associated with tumor size (<i>P</i><sub>CUL4A</sub> <0.001 and <i>P</i><sub>CUL4B</sub> = 0.002), lymphatic invasion (<i>P</i><sub>CUL4A</sub> = 0.004 and <i>P</i><sub>CUL4B</sub> <0.001), metastasis (<i>P</i><sub>CUL4A</sub> = 0.019 and <i>P</i><sub>CUL4B</sub> = 0.006), and advanced TNM stage (<i>P</i><sub>CUL4A</sub> <0.001 and <i>P</i><sub>CUL4B</sub> <0.001), which parallels gene amplification and abnormal activation of the canonical WNT signaling. 27974468 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.070 Biomarker phenotype BEFREE CUL4B promotes gastric cancer invasion and metastasis-involvement of upregulation of HER2. 29106389 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.070 Biomarker phenotype BEFREE CUL4B silencing inhibited cell proliferation, migration and invasion by inactivating the Wnt/β‑catenin pathway. miR‑381/miR‑489 overexpression recapitulated the effects of CUL4B silencing, while CUL4B restoration negated the suppressive effects induced by the ectopic expression of miR‑381/miR‑489. 30483755 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.070 AlteredExpression phenotype BEFREE Immunohistochemical study displayed that high CUL4B expression was significantly associated with the depth of tumor invasion, lymph node metastasis, distant metastasis, histological differentiation, vascular invasion, and advanced tumor stage. 23649548 2013
CUI: C0040822
Disease: Tremor
Tremor 		0.110 GeneticVariation phenotype BEFREE Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. 17236139 2007
CUI: C0040822
Disease: Tremor
Tremor 		0.110 Biomarker phenotype HPO
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.110 GeneticVariation disease BEFREE Here, using oligoarray-based comparative genomic hybridization (array CGH), we identified a de novo deletion of the CUL4B gene in a boy with syndromic mental retardation, minor facial anomalies, short stature, delayed puberty, hypogonadism, relative macrocephaly, gait ataxia, and pes cavus, all manifestations described previously in patients with CUL4B point mutations. 20014135 2010
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.110 Biomarker disease HPO
CUI: C0431447
Disease: Synophrys
Synophrys 		0.100 Biomarker disease HPO
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		0.100 Biomarker disease HPO
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.030 Biomarker disease BEFREE miR‑381 and miR‑489 suppress cell proliferation and invasion by targeting CUL4B via the Wnt/β‑catenin pathway in gastric cancer. 30483755 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.030 Biomarker disease BEFREE Silencing of CUL4B also resulted in decreased Wnt and β‑catenin expression, but increased expression of GSK‑3β, caspase‑3 and cyclin E. These results indirectly demonstrate that CUL4B enhances the proliferation and invasion abilities of gastric cancer cells by upregulating the constituent factors Wnt and β‑catenin, as well as by negatively regulating the mRNA and protein expression of GSK‑3β, caspase‑3 and cyclin E. The potential mechanism of CUL4B highlighted in the present study may be helpful for the treatment of patients with gastric cancer. 29393470 2018
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.030 AlteredExpression disease BEFREE Finally, we suggested the involvement of the PI3K/AKT pathway in CUL4B-induced HER2 upregulation in GC. 29106389 2018
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 AlteredExpression disease BEFREE Interestingly, our results showed that CUL4B is upregulated in HNSCC and that its upregulation is associated with poor survival and worse histological grade. 30883036 2019
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 Biomarker disease BEFREE Taken together, these results demonstrate that miR-133b/CUL4B serves a tumor suppressive role during ESCC progression and may therefore be used as a potential target to treat patients with ESCC. 29581734 2018
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.010 GeneticVariation group BEFREE We conclude that the CUL4B gene should be screened in males with severe speech impairment and primary intention tremor, especially if characteristic facial dysmorphism is also present. 20002452 2010
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.020 AlteredExpression phenotype BEFREE Cul4B is overexpressed in various solid tumors. 28808481 2017
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.020 AlteredExpression phenotype BEFREE Cullin 4B (CUL4B), a scaffold protein that assembles CRL4B ubiquitin ligase complexes, is overexpressed in many types of solid tumors and contributes to epigenetic silencing of tumor suppressors. 30609075 2019
CUI: C0241355
Disease: Small testicle
Small testicle 		0.100 Biomarker phenotype HPO