ZBTB18 Gene Summary [Human]
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. [provided by RefSeq, May 2013]
Details
| Type | Protein Coding |
| Official Symbol | ZBTB18 |
| Official Name | zinc finger and BTB domain containing 18 [Source:HGNC Symbol;Acc:HGNC:13030] |
| Ensembl ID | ENSG00000179456 |
| Bio databases IDs | |
| Aliases | zinc finger and BTB domain containing 18 |
| Synonyms | C1DELq42q44, C1DELq43q44, C2H2-171, DEL1Q42Q44, DEL1Q43Q44, MRD22, RP58, TAZ-1, ZFP238, zinc finger and BTB domain containing 18, ZNF238, Znf238. |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ZBTB18 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc finger, C2H2 type
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- Broad-Complex, Tramtrack and Bric a brac
- double-stranded DNA binding
- Zinc-finger double domain
- BTB_POZ
- BTB/POZ domain
- protein binding
- sequence-specific DNA binding
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant mental retardation type 22
- diabetes mellitus
- mental retardation
- hereditary disorder
- hepatic steatosis
- complex neurodevelopmental disorder
- nonalcoholic fatty liver disease
- marfanoid habitus with mental retardation
- developmental delay
role in cell
- expression in
- survival
- apoptosis
- migration
- number
- proliferation
- differentiation
- development
- outgrowth
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- heterochromatin
- nucleoplasm
- nuclear speckles
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ZBTB18 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription, DNA-dependent
- skeletal muscle tissue development
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- heterochromatin
- nucleus
- nuclear speck
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- metal ion binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity