ZBTB20
Zinc Finger and BTB Domain Containing 20
Gene Information Card
| Symbol | ZBTB20 |
|---|---|
| Full Name | Zinc finger and BTB domain containing 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.31 |
| NCBI Gene ID | 26137 ncbi.nlm.nih.gov/gene/26137 |
| Ensembl ID | ENSG00000114491 |
| UniProt ID | Q9HC78 |
| OMIM ID | 606025 |
| HGNC ID | 13503 |
| Aliases | DPZF, HOF, ZNF288, ODA-8S, ZBTB20A, ZBTB20B |
Description
ZBTB20 encodes a zinc finger transcription factor containing an N-terminal BTB (POZ) domain and C-terminal C2H2 zinc finger motifs. It acts as a transcriptional repressor by recruiting histone deacetylases and is involved in neurodevelopment, glucose metabolism, and postnatal growth. Mutations in ZBTB20 cause Primrose syndrome, characterized by intellectual disability, dysmorphic features, and metabolic abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primrose syndrome | Loss-of-function mutations in ZBTB20 impair transcriptional repression, leading to dysregulation of target genes involved in brain development and metabolism. | ClinVar, OMIM |
| Intellectual disability (non-syndromic) | Heterozygous missense and nonsense variants in ZBTB20 disrupt DNA binding or protein stability, affecting neuronal gene expression. | ClinVar, OMIM |
| Autism spectrum disorder | Rare de novo ZBTB20 variants identified in ASD cohorts suggest a role in synaptic function and neurodevelopment. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Liver | 6.7 | Low |
| Pancreas | 5.1 | Low |
| Testis | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HepG2 (hepatocellular carcinoma) | 7.9 | Liver model |
| K562 (leukemia) | 4.5 | Myeloid model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2101C>T (p.Arg701*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1672G>A (p.Gly558Arg) | Missense | Rare | Impaired DNA binding, reduced repressor activity |
| c.2245_2246del (p.Leu749Valfs*3) | Frameshift | Rare | Loss of C-terminal zinc fingers, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that reduce or abolish transcriptional repressor activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some missense variants may interfere with wild-type ZBTB20 function via dimerization, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (Reactome: R-HSA-157118)
• Transcriptional regulation by ZBTB20 (inferred from literature)
Protein Summary
ZBTB20 is a 741-amino acid protein with an N-terminal BTB domain mediating dimerization and transcriptional repression, and six C2H2 zinc fingers at the C-terminus responsible for sequence-specific DNA binding. It localizes to the nucleus and represses target genes such as AFP and GATA3. The protein is highly expressed in the brain and plays critical roles in neurogenesis, glucose homeostasis, and postnatal growth regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZBTB20 Knockout HEK293 Cell Line | EDJ-KQ8428 | Human | 26137 | Details Get a Quote |
| ZBTB20 Knockout HCT 116 Cell Line | EDJ-KQ34532 | Human | 26137 | Details Get a Quote |
| ZBTB20 Knockout HeLa Cell Line | EDJ-KQ55885 | Human | 26137 | Details Get a Quote |
| ZBTB20 Knockout A-549 Cell Line | EDJ-KQ64375 | Human | 26137 | Details Get a Quote |
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