ZBTB24 Gene
Zinc Finger and BTB Domain Containing 24
Gene Information Card
| Symbol | ZBTB24 |
|---|---|
| Full Name | Zinc Finger and BTB Domain Containing 24 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 9841 ncbi.nlm.nih.gov/gene/9841 |
| Ensembl ID | ENSG00000112365 |
| UniProt ID | Q9H9P2 |
| OMIM ID | 614064 |
| HGNC ID | 21143 |
| Aliases | ZNF450, FLJ10298, MGC126562 |
Description
ZBTB24 encodes a zinc finger protein with a BTB (POZ) domain, functioning as a transcriptional regulator. It is essential for DNA methylation maintenance at pericentromeric repeats and plays a critical role in immune system development. Mutations in ZBTB24 cause immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome type 2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 (ICF2) | Loss-of-function mutations impair DNA methylation at pericentromeric repeats, leading to chromosomal instability and immune defects. | OMIM #614069; ClinVar pathogenic variants |
| Primary Immunodeficiency | Disrupted B-cell and T-cell development due to defective epigenetic regulation. | PubMed studies; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lymph node | 8.7 | Low |
| Spleen | 7.1 | Low |
| Bone marrow | 6.5 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 9.5 | Moderate expression |
| HeLa (cervical) | 6.8 | Low expression |
| HepG2 (liver) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1222C>T (p.Arg408*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1462C>T (p.Arg488Trp) | Missense | Rare | Loss of function; impaired DNA binding |
| c.1075C>T (p.Arg359Cys) | Missense | Rare | Loss of function; reduced stability |
Mutation functional classification
Loss of Function (LOF)
Most ZBTB24 mutations are loss-of-function, leading to ICF2 syndrome via defective DNA methylation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • zinc ion binding |
| • chromatin binding | • regulation of DNA methylation |
| • negative regulation of transcription by RNA polymerase II | • nucleus |
Pathways
• DNA methylation maintenance
• Epigenetic regulation of gene expression
Protein Summary
ZBTB24 is a 696-amino acid nuclear protein containing an N-terminal BTB domain and C-terminal zinc finger motifs. It binds DNA and recruits chromatin modifiers to maintain DNA methylation at pericentromeric repeats. Loss of function disrupts epigenetic silencing, leading to chromosomal instability and immune deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZBTB24 Knockout HEK293 Cell Line | EDJ-KQ6781 | Human | 9841 | Details Get a Quote |
| ZBTB24 Knockout A-549 Cell Line | EDJ-KQ31244 | Human | 9841 | Details Get a Quote |
| ZBTB24 Knockout HCT 116 Cell Line | EDJ-KQ31245 | Human | 9841 | Details Get a Quote |
| ZBTB24 Knockout HeLa Cell Line | EDJ-KQ31246 | Human | 9841 | Details Get a Quote |
