ZBTB14 (Zinc Finger and BTB Domain Containing 14)
Transcriptional repressor involved in neurodevelopment and cancer
Gene Information Card
| Symbol | ZBTB14 |
|---|---|
| Full Name | Zinc Finger and BTB Domain Containing 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q12.1 |
| NCBI Gene ID | 7541 ncbi.nlm.nih.gov/gene/7541 |
| Ensembl ID | ENSG00000101557 |
| UniProt ID | O43829 |
| OMIM ID | 602432 |
| HGNC ID | 12860 |
| Aliases | ZNF478, ZFP-161, ZFP-161 (mouse homolog) |
Description
ZBTB14 encodes a zinc finger protein with a BTB (POZ) domain that functions as a transcriptional repressor. It binds to specific DNA sequences and recruits corepressor complexes to regulate gene expression. The protein is involved in neurodevelopment, cell cycle control, and may act as a tumor suppressor in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered ZBTB14 expression disrupts neuronal gene regulation | PMID: 25664889 |
| Breast cancer | Reduced ZBTB14 expression correlates with poor prognosis | PMID: 29158547 |
| Glioblastoma | ZBTB14 downregulation promotes tumor growth | PMID: 30266987 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Breast | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| MCF7 (breast cancer) | 3.1 | Low expression |
| U87MG (glioblastoma) | 2.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.457C>T (p.Arg153*) | Nonsense | <0.1% | Loss of function |
| c.1022G>A (p.Arg341His) | Missense | 0.2% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg153*) lead to truncated protein and loss of repressor activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • protein homodimerization activity |
| • negative regulation of transcription by RNA polymerase II | • chromatin binding |
Pathways
• Transcriptional regulation by ZBTB14
• p53 signaling pathway (indirect)
Protein Summary
ZBTB14 is a 484-amino acid protein containing an N-terminal BTB domain and five C2H2-type zinc fingers. It localizes to the nucleus and represses transcription by recruiting histone deacetylases. The protein is highly expressed in brain and testis, with lower levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZBTB14 Knockout HEK293 Cell Line | EDJ-KQ6022 | Human | 7541 | Details Get a Quote |
| ZBTB14 Knockout A-549 Cell Line | EDJ-KQ29643 | Human | 7541 | Details Get a Quote |
| ZBTB14 Knockout HCT 116 Cell Line | EDJ-KQ29644 | Human | 7541 | Details Get a Quote |
| ZBTB14 Knockout HeLa Cell Line | EDJ-KQ29645 | Human | 7541 | Details Get a Quote |
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