ZBTB18
Zinc Finger and BTB Domain Containing 18
Gene Information Card
| Symbol | ZBTB18 |
|---|---|
| Full Name | Zinc finger and BTB domain containing 18 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q44 |
| NCBI Gene ID | 10472 ncbi.nlm.nih.gov/gene/10472 |
| Ensembl ID | ENSG00000179456 |
| UniProt ID | Q99592 |
| OMIM ID | 608433 |
| HGNC ID | 13030 |
| Aliases | ZNF238, RP58, TZFP |
Description
ZBTB18 (Zinc Finger and BTB Domain Containing 18), also known as ZNF238 or RP58, encodes a transcriptional repressor that plays a critical role in neurodevelopment, particularly in cortical neuron migration and differentiation. The protein contains an N-terminal BTB/POZ domain and C-terminal C2H2 zinc fingers, mediating DNA binding and chromatin remodeling. ZBTB18 is frequently deleted or mutated in 1q44 microdeletion syndrome and is implicated in intellectual disability, autism, and glioma suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability (1q44 microdeletion syndrome) | Haploinsufficiency of ZBTB18 disrupts neuronal migration and cortical development | OMIM #612337; multiple case reports |
| Autism spectrum disorder | De novo missense variants impair transcriptional repression activity | ClinVar; PMID 25363768 |
| Glioma (glioblastoma) | Loss of ZBTB18 expression promotes tumor cell proliferation and invasion via derepression of target genes | COSMIC; PMID 24162741 |
| Epileptic encephalopathy | De novo truncating mutations lead to severe neurodevelopmental phenotypes | ClinVar; PMID 27399966 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Cerebellum | 8.2 | Medium |
| Testis | 4.1 | Low |
| Heart | 2.3 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| U87MG (glioblastoma) | 2.1 | Reduced expression vs normal brain |
| HEK293 (embryonic kidney) | 6.7 | Moderate expression |
| HeLa (cervical carcinoma) | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense (start loss) | <0.01% | Loss of protein expression; intellectual disability |
| c.511C>T (p.Arg171Trp) | Missense | <0.01% | Impaired DNA binding; autism |
| c.1021C>T (p.Arg341*) | Nonsense | <0.01% | Truncation; epileptic encephalopathy |
| Whole gene deletion | Copy number loss | Rare (1q44 deletion) | Haploinsufficiency; intellectual disability, microcephaly |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations (nonsense, frameshift, start loss, whole gene deletion) lead to haploinsufficiency or complete loss of ZBTB18 repressor activity, impairing neuronal differentiation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ZBTB18.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg171Trp) may act as dominant-negative by disrupting DNA binding while retaining BTB-mediated dimerization, interfering with wild-type function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:147424 – Transcriptional regulation by ZBTB18
• WP:WP2848 – Wnt signaling pathway (modulated by ZBTB18)
• REACT:111045 – Developmental biology (neuronal migration)
Protein Summary
ZBTB18 is a 584-amino acid transcriptional repressor with a BTB/POZ domain (residues 1–120) and four C2H2 zinc fingers (residues 340–420). It binds to specific DNA sequences (e.g., the RP58 response element) and recruits histone deacetylases (HDACs) to silence target genes involved in cell cycle progression and neuronal differentiation. The protein is highly expressed in developing and adult brain, where it regulates cortical lamination and axon guidance. Loss of ZBTB18 function is associated with neurodevelopmental disorders and glioblastoma progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZBTB18 Knockout HEK293 Cell Line | EDJ-KQ7054 | Human | 10472 | Details Get a Quote |
| ZBTB18 Knockout A-549 Cell Line | EDJ-KQ31848 | Human | 10472 | Details Get a Quote |
| ZBTB18 Knockout HCT 116 Cell Line | EDJ-KQ31849 | Human | 10472 | Details Get a Quote |
| ZBTB18 Knockout HeLa Cell Line | EDJ-KQ31850 | Human | 10472 | Details Get a Quote |
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