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Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Also involved in controlling cell division of progenitor cells and regulating the survival of postmitotic cortical neurons. Specifically binds the consensus DNA sequence 5'-[AC]ACATCTG[GT][AC]-3' which contains the E box core, and acts by recruiting chromatin remodeling multiprotein complexes. May also play a role in the organization of chromosomes in the nucleus.
Gene References into Functions
This study characterizes the role of the putative tumor suppressor ZBTB18 and its regulation by promoter hypermethylation, which appears to be a common mechanism to silence ZBTB18 in the mesenchymal subtype of GBM and provides a new mechanistic opportunity to specifically target this tumor subclass PMID: 28512252
results confirm and refine the complex genotype-phenotype correlations existing in the 1qter microdeletion syndrome and define more precisely the neurodevelopmental phenotypes associated with genetic alterations of AKT3, ZBTB18 and HNRNPU in humans PMID: 28283832
De novo missense and truncating variants in ZBTB18 cause intellectual disability. PMID: 27598823
This report indicates that haploinsufficiency of additional genes beside ZBTB18 causes the high frequency of corpus callosum anomalies in patients with microdeletions of 1q43q44 and underlines the importance of an NGS-based molecular diagnostic in complex phenotypes PMID: 28345786
repression of the CR2/CD21 promoter can occur through one of the E-box motifs via recruitment of RP58. PMID: 25817480
RP58 may act to favor neuronal differentiation and brain growth by coherently repressing multiple proneurogenic genes in a timely manner. PMID: 22095278
Findings indicate that ZNF238 is a novel brain tumor suppressor and its reactivation in tumors could open a novel anticancer strategy. PMID: 20103640
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Involvement in disease
Mental retardation, autosomal dominant 22 (MRD22)
Subcellular Location
Nucleus. Note=Associates with condensed chromatin.
Protein Families
Krueppel C2H2-type zinc-finger protein family, ZBTB18 subfamily
Tissue Specificity
Lymphoid tissues, testis, heart, brain, skeletal muscle, and pancreas and, at much lower level, other tissues.