ZBTB18

This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants.

Full Name

ZBTB18

Function

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.

Biological Process

Biological Process negative regulation of DNA-templated transcription Source:UniProtKB
Biological Process negative regulation of transcription by RNA polymerase II Source:GO_Central1 Publication
Biological Process positive regulation of transcription by RNA polymerase II Source:CAFA1 Publication
Biological Process regulation of transcription by RNA polymerase II Source:GO_Central1 Publication
Biological Process skeletal muscle tissue development Source:UniProtKB

Cellular Location

Nucleus
Associates with condensed chromatin.

Involvement in disease

Intellectual developmental disorder, autosomal dominant 22 (MRD22):
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD22 patients have limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures.