ZBTB7A Gene
Zinc Finger and BTB Domain Containing 7A
Gene Information Card
| Symbol | ZBTB7A |
|---|---|
| Full Name | Zinc finger and BTB domain containing 7A |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 51341 ncbi.nlm.nih.gov/gene/51341 |
| Ensembl ID | ENSG00000178951 |
| UniProt ID | O95365 |
| OMIM ID | 605878 |
| HGNC ID | 12978 |
| Aliases | FB1, ZNF857A, LRF, Pokemon, FBI-1 |
Description
ZBTB7A encodes a transcription factor containing a BTB (POZ) domain and zinc finger motifs. It acts as a proto-oncogene by repressing tumor suppressor genes such as ARF and is involved in cell differentiation, proliferation, and apoptosis. Mutations in ZBTB7A are recurrent in acute myeloid leukemia and myelodysplastic syndromes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Somatic mutations in ZBTB7A impair transcriptional repression, contributing to leukemogenesis | PMID: 21572410 |
| Myelodysplastic syndrome | Loss-of-function mutations disrupt normal hematopoietic differentiation | PMID: 21572410 |
| Diffuse large B-cell lymphoma | ZBTB7A overexpression linked to aggressive disease | PMID: 18371341 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.3 | Medium |
| Lymph node | 9.8 | Medium |
| Spleen | 8.5 | Medium |
| Testis | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 15.1 | Leukemia cell line |
| HEK293 | 7.4 | Embryonic kidney |
| HeLa | 5.6 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1135C>T (p.Arg379Cys) | Missense | 1.5% in AML | Loss of DNA binding |
| c.1124G>A (p.Arg375Gln) | Missense | 0.8% in AML | Reduced transcriptional repression |
| c.1144_1145del (p.Leu382fs) | Frameshift | 0.5% in MDS | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations in the zinc finger domain impair DNA binding and transcriptional repression of target genes such as CDKN2A.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may act as an oncogene.
Dominant Negative (DN)
Not reported for ZBTB7A.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa05202: Transcriptional misregulation in cancer
• hsa04110: Cell cycle
• hsa05200: Pathways in cancer
Protein Summary
ZBTB7A is a 584-amino acid protein containing an N-terminal BTB/POZ domain and C-terminal C2H2 zinc fingers. It functions as a transcriptional repressor by recruiting histone deacetylases. The protein is implicated in hematopoietic differentiation and oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZBTB7A Knockout HEK293 Cell Line | EDJ-KQ1325 | Human | 51341 | Details Get a Quote |
| ZBTB7A Knockout A-549 Cell Line | EDJ-KQ22063 | Human | 51341 | Details Get a Quote |
| ZBTB7A Knockout HCT 116 Cell Line | EDJ-KQ22064 | Human | 51341 | Details Get a Quote |
| ZBTB7A Knockout HeLa Cell Line | EDJ-KQ22065 | Human | 51341 | Details Get a Quote |
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