ZBTB38 Gene - Zinc Finger and BTB Domain Containing 38
A transcriptional regulator involved in DNA methylation, cell proliferation, and cancer
Gene Information Card
| Symbol | ZBTB38 |
|---|---|
| Full Name | zinc finger and BTB domain containing 38 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q23 |
| NCBI Gene ID | 253461 ncbi.nlm.nih.gov/gene/253461 |
| Ensembl ID | ENSG00000114416 |
| UniProt ID | Q8NAP3 |
| OMIM ID | 611045 |
| HGNC ID | 29027 |
| Aliases | ZNF921, MIZ-1-like, FLJ31168 |
Description
ZBTB38 (zinc finger and BTB domain containing 38) is a protein-coding gene that encodes a transcription factor belonging to the POK (POZ and Krüppel) family. It contains an N-terminal BTB/POZ domain and multiple C-terminal C2H2 zinc finger motifs. ZBTB38 functions as a transcriptional repressor by recruiting histone deacetylases and is involved in the regulation of DNA methylation, cell cycle progression, and apoptosis. It is implicated in various cancers, including breast, colorectal, and lung cancer, where it can act as an oncogene or tumor suppressor depending on context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes cell proliferation and invasion; regulates p53 and estrogen receptor signaling | PMID: 25605247 |
| Colorectal cancer | Upregulation correlates with poor prognosis; modulates Wnt/β-catenin pathway | PMID: 27323850 |
| Lung cancer | Altered expression linked to tumor growth and metastasis; affects DNA methylation patterns | PMID: 28411370 |
| Acute myeloid leukemia | Fusion partner in rare translocations; potential role in leukemogenesis | PMID: 21572414 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Low |
| Breast | 12.5 | Medium |
| Colon | 15.3 | Medium |
| Lung | 10.1 | Low |
| Liver | 6.8 | Low |
| Testis | 18.9 | Medium |
| Ovary | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 14.2 | Moderate expression |
| HCT116 (colorectal cancer) | 16.8 | Moderate-high expression |
| A549 (lung cancer) | 11.5 | Low-moderate expression |
| HEK293 (embryonic kidney) | 7.3 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | 0.02% (gnomAD) | Unknown; predicted damaging by SIFT |
| c.1456G>A (p.Glu486Lys) | Missense | 0.01% (gnomAD) | Unknown; predicted tolerated |
| c.1789_1790insA (p.Thr597Asnfs*5) | Frameshift | Rare | Loss of function; truncation of zinc finger domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1789_1790insA) lead to truncated protein lacking C-terminal zinc fingers, impairing DNA binding and transcriptional repression.
Gain of Function (GOF)
Missense mutations in the BTB domain may alter protein-protein interactions, potentially enhancing repressor activity or stability.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported; however, BTB domain mutations could interfere with dimerization and wild-type function.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Transcriptional regulation by ZBTB38
• p53 signaling pathway (via regulation of TP53)
• Wnt/β-catenin signaling pathway (in colorectal cancer)
Protein Summary
ZBTB38 is a 1,209-amino-acid protein with a BTB/POZ domain at the N-terminus and 10 C2H2 zinc finger motifs. It localizes to the nucleus and acts as a transcriptional repressor by binding to specific DNA sequences and recruiting co-repressor complexes such as histone deacetylases. The protein is involved in regulating DNA methylation through interaction with DNMTs and plays roles in cell cycle control, apoptosis, and differentiation. ZBTB38 expression is tissue-specific and frequently dysregulated in cancers, where it can influence tumor progression and patient prognosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZBTB38 Knockout HEK293 Cell Line | EDJ-KQ11732 | Human | 253461 | Details Get a Quote |
| ZBTB38 Knockout HCT 116 Cell Line | EDJ-KQ40098 | Human | 253461 | Details Get a Quote |
| ZBTB38 Knockout HeLa Cell Line | EDJ-KQ40099 | Human | 253461 | Details Get a Quote |
| ZBTB38 Knockout A-549 Cell Line | EDJ-KQ38829 | Human | 253461 | Details Get a Quote |