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.

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 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
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