ZBTB16 Gene (Zinc Finger and BTB Domain Containing 16)
Transcriptional regulator involved in development, hematopoiesis, and cancer
Gene Information Card
| Symbol | ZBTB16 |
|---|---|
| Full Name | Zinc Finger and BTB Domain Containing 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.2 |
| NCBI Gene ID | 7704 ncbi.nlm.nih.gov/gene/7704 |
| Ensembl ID | ENSG00000109906 |
| UniProt ID | Q05516 |
| OMIM ID | 176797 |
| HGNC ID | 12830 |
| Aliases | PLZF, ZNF145, ZBTB16A, ZBTB16B |
Description
ZBTB16 (Zinc Finger and BTB Domain Containing 16), also known as PLZF (Promyelocytic Leukemia Zinc Finger), encodes a transcription factor with an N-terminal BTB/POZ domain and C-terminal zinc finger motifs. It regulates gene expression involved in cell cycle, differentiation, and apoptosis. ZBTB16 is critical for spermatogenesis, limb development, and hematopoiesis. Chromosomal translocations involving ZBTB16 (e.g., t(11;17)(q23;q21) with RARA) are associated with acute promyelocytic leukemia (APL).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute promyelocytic leukemia (APL) | Fusion of ZBTB16 with RARA via t(11;17)(q23;q21) disrupts retinoic acid signaling and blocks differentiation | ClinVar, COSMIC, OMIM #176797 |
| Spermatogenic failure | Biallelic loss-of-function mutations in ZBTB16 cause azoospermia and male infertility | OMIM #176797, ClinVar |
| Limb malformations | Homozygous ZBTB16 mutations associated with postaxial polydactyly and skeletal defects | OMIM #176797, NCBI Gene |
| Myelodysplastic syndrome | ZBTB16 deletions or mutations contribute to clonal hematopoiesis and dysplasia | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 12.3 | Medium |
| Lymph node | 8.1 | Medium |
| Brain | 2.4 | Low |
| Liver | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NB4 (APL cell line) | 15.2 | High expression; t(11;17) positive |
| K562 (CML) | 6.8 | Moderate |
| HEK293 | 3.5 | Low |
| HeLa | 2.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% in general population | Loss of function; associated with spermatogenic failure |
| c.1567G>A (p.Gly523Arg) | Missense | <0.01% | Impaired DNA binding; reported in APL |
| t(11;17)(q23;q21) | Chromosomal translocation | Rare in APL (0.8% of cases) | ZBTB16-RARA fusion; blocks differentiation |
| c.789_790del (p.Leu264fs) | Frameshift | <0.01% | Loss of function; limb malformations |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that disrupt DNA binding or BTB domain lead to loss of transcriptional repression, causing spermatogenic failure and limb defects.
Gain of Function (GOF)
Not well documented; ZBTB16-RARA fusion may act as a dominant-negative oncoprotein rather than gain-of-function.
Dominant Negative (DN)
ZBTB16-RARA fusion protein interferes with wild-type ZBTB16 and RARA signaling, contributing to APL pathogenesis.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinoic acid receptor signaling pathway (Reactome: R-HSA-9006931)
• Transcriptional regulation by ZBTB16 (Reactome: R-HSA-9616222)
• Acute promyelocytic leukemia (KEGG: hsa05221)
• Developmental biology (Reactome: R-HSA-1266738)
Protein Summary
ZBTB16 (PLZF) is a 673-amino acid transcription factor containing an N-terminal BTB/POZ domain (mediates homodimerization and transcriptional repression) and nine C2H2-type zinc fingers (mediate sequence-specific DNA binding). It represses target genes by recruiting histone deacetylases (HDACs) and polycomb repressive complexes. The protein is highly expressed in testis, bone marrow, and lymphoid tissues. ZBTB16 plays essential roles in spermatogenesis, limb patterning, and hematopoietic stem cell maintenance. Pathogenic variants cause infertility and skeletal anomalies, while the ZBTB16-RARA fusion drives a rare subtype of APL resistant to all-trans retinoic acid (ATRA) therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZBTB16 Knockout HEK293 Cell Line | EDJ-KQ2480 | Human | 7704 | Details Get a Quote |
| ZBTB16 Knockout HeLa Cell Line | EDJ-KQ54782 | Human | 7704 | Details Get a Quote |
| ZBTB16 Knockout A-549 Cell Line | EDJ-KQ63274 | Human | 7704 | Details Get a Quote |
| ZBTB16 Knockout HCT 116 Cell Line | EDJ-KQ71740 | Human | 7704 | Details Get a Quote |
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