ZFHX3
Zinc Finger Homeobox 3
Gene Information Card
| Symbol | ZFHX3 |
|---|---|
| Full Name | zinc finger homeobox 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.3 |
| NCBI Gene ID | 463 ncbi.nlm.nih.gov/gene/463 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q15911 |
| OMIM ID | 104155 |
| HGNC ID | 12866 |
| Aliases | ATBF1, ATBF1-A, ZNF927 |
Description
ZFHX3 (zinc finger homeobox 3) encodes a large transcription factor containing multiple zinc finger motifs and a homeodomain. It functions as a tumor suppressor by regulating cell differentiation, proliferation, and apoptosis. The gene is frequently mutated in various cancers and is implicated in neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Loss-of-function mutations and deletions reduce tumor suppressor activity, promoting cell proliferation. | COSMIC, ClinVar |
| Prostate cancer | Somatic mutations and copy number loss are associated with aggressive disease. | COSMIC, ClinVar |
| Breast cancer | Mutations and altered expression contribute to tumor progression. | COSMIC, ClinVar |
| Neurodevelopmental disorders | De novo missense variants are linked to intellectual disability and autism spectrum disorder. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Prostate | 6.7 | Low |
| Breast | 5.9 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| PC-3 | 7.8 | Prostate cancer cell line |
| MCF7 | 6.5 | Breast cancer cell line |
| SH-SY5Y | 14.2 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% in cancers | Loss of function |
| c.2567_2568del (p.Leu856fs) | Frameshift | <1% in hepatocellular carcinoma | Loss of function |
| c.3456G>A (p.Glu1152Lys) | Missense | Rare in neurodevelopmental disorders | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of tumor suppressor activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Not established for ZFHX3.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • regulation of transcription by RNA polymerase II | • negative regulation of cell population proliferation |
| • nucleus |
Pathways
• Transcriptional regulation by TP53
• Apoptosis signaling
• Cell cycle regulation
Protein Summary
ZFHX3 is a 3703-amino acid nuclear protein with 23 zinc finger domains and a homeobox DNA-binding domain. It acts as a transcriptional repressor of genes involved in cell growth and differentiation, including MYC and CCND1. The protein interacts with TP53 and SMAD3 to modulate apoptosis and TGF-beta signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZFHX3 Knockout HEK293 Cell Line | EDJ-KQ2110 | Human | 463 | Details Get a Quote |
| ZFHX3 Knockout HCT 116 Cell Line | EDJ-KQ20942 | Human | 463 | Details Get a Quote |
| ZFHX3 Knockout A-549 Cell Line | EDJ-KQ22237 | Human | 463 | Details Get a Quote |
| ZFHX3 Knockout HeLa Cell Line | EDJ-KQ22238 | Human | 463 | Details Get a Quote |
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