ZBTB7B Gene - Zinc Finger and BTB Domain Containing 7B
Key regulator of T-cell development and lineage commitment
Gene Information Card
| Symbol | ZBTB7B |
|---|---|
| Full Name | Zinc Finger and BTB Domain Containing 7B |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 51043 ncbi.nlm.nih.gov/gene/51043 |
| Ensembl ID | ENSG00000160685 |
| UniProt ID | O15156 |
| OMIM ID | 607646 |
| HGNC ID | 16907 |
| Aliases | THPOK, ZBTB15, ZNF857B, cKrox |
Description
ZBTB7B (also known as THPOK) is a transcription factor that plays a critical role in T-cell development, specifically in the commitment of CD4+ helper T-cell lineage. It belongs to the POK (POZ and Krüppel) family of zinc finger proteins. ZBTB7B represses CD8+ lineage genes and activates CD4+ lineage genes during thymocyte differentiation. It is also involved in other processes such as adipogenesis and osteoclastogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| T-cell acute lymphoblastic leukemia (T-ALL) | Dysregulation of ZBTB7B expression may contribute to T-cell transformation and leukemia development | PMID: 23352259 |
| Immunodeficiency | Mutations affecting ZBTB7B function can impair CD4+ T-cell development, leading to immune deficiency | PMID: 25660083 |
| Autoimmune diseases | Altered ZBTB7B activity may influence T-cell subset balance and autoimmunity | PMID: 20613862 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thymus | 12.5 | High |
| Spleen | 8.3 | Medium |
| Lymph node | 7.1 | Medium |
| Bone marrow | 4.2 | Low |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 0.5 | Very low |
| K562 (erythroleukemia) | 1.1 | Low |
| HeLa (cervical carcinoma) | 0.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | <0.01% | Altered DNA binding affinity |
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Reduced transcriptional activity |
| c.1456_1457insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and missense mutations that impair DNA binding or transcriptional activation lead to loss of function, disrupting CD4+ T-cell development.
Gain of Function (GOF)
Not well documented; gain-of-function mutations are rare in ZBTB7B.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by interfering with wild-type ZBTB7B function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• T-cell receptor signaling pathway (KEGG: hsa04660)
• Thymic T cell development (Reactome: R-HSA-202430)
• Transcriptional regulation by ZBTB7B (Reactome: R-HSA-9022699)
Protein Summary
ZBTB7B is a 539-amino acid protein containing an N-terminal BTB/POZ domain and C-terminal zinc finger motifs. It functions as a sequence-specific DNA-binding transcription factor, primarily acting as a repressor of CD8-lineage genes and an activator of CD4-lineage genes. The protein is localized to the nucleus and is essential for the proper development of CD4+ T cells in the thymus. It also plays roles in other tissues, including bone and adipose tissue.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZBTB7B Knockout HEK293 Cell Line | EDJ-KQ10886 | Human | 51043 | Details Get a Quote |
| ZBTB7B Knockout A-549 Cell Line | EDJ-KQ38579 | Human | 51043 | Details Get a Quote |
| ZBTB7B Knockout HCT 116 Cell Line | EDJ-KQ38580 | Human | 51043 | Details Get a Quote |
| ZBTB7B Knockout HeLa Cell Line | EDJ-KQ38581 | Human | 51043 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
