ZNF232: Zinc Finger Protein 232
A Krüppel-associated box (KRAB) domain-containing zinc finger transcription factor involved in transcriptional regulation and implicated in cancer and immune-related disorders.
Gene Information Card
| Symbol | ZNF232 |
|---|---|
| Full Name | zinc finger protein 232 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 7775 ncbi.nlm.nih.gov/gene/7775 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q9H7E2 |
| OMIM ID | 604749 |
| HGNC ID | 13053 |
| Aliases | ZNF232, ZNF232A, ZNF232B |
Description
ZNF232 encodes a zinc finger protein of the Krüppel-associated box (KRAB) family, which functions as a transcriptional repressor. The protein contains an N-terminal KRAB domain and multiple C2H2-type zinc finger motifs, mediating DNA binding and chromatin remodeling. ZNF232 is involved in regulating gene expression during development and immune response, and its dysregulation has been linked to various cancers and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ZNF232 overexpression may promote tumor cell proliferation via transcriptional repression of tumor suppressor genes. | COSMIC; PMID: 25691885 |
| Colorectal cancer | Altered ZNF232 expression correlates with poor prognosis and may modulate Wnt/β-catenin signaling. | COSMIC; PMID: 28723891 |
| Systemic lupus erythematosus | ZNF232 polymorphisms associated with increased autoantibody production and immune dysregulation. | ClinVar; PMID: 23449783 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Bone marrow | 6.7 | Low |
| Brain | 2.1 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 10.8 | Low expression |
| K562 | 7.4 | Low expression |
| MCF7 | 5.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | 0.001% (gnomAD) | May alter KRAB domain stability; uncertain significance |
| c.205G>A (p.Gly69Arg) | Missense | 0.0005% (gnomAD) | Potential loss of DNA-binding affinity |
| c.412_413insA (p.Thr138Asnfs*2) | Frameshift | <0.0001% | Predicted loss of function via nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants (e.g., p.Thr138Asnfs*2) are predicted to cause loss of function through truncation or mRNA decay.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects in current literature.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: hsa05200 – Pathways in cancer
• Reactome: R-HSA-212436 – Generic Transcription Pathway
• Reactome: R-HSA-3214847 – HDACs deacetylate histones
Protein Summary
ZNF232 is a 532-amino-acid protein with a KRAB domain at the N-terminus and 12 C2H2-type zinc finger motifs. It localizes to the nucleus and acts as a transcriptional repressor by recruiting chromatin-modifying complexes. The protein is expressed in immune tissues and testis, with lower levels in other tissues. Structural studies indicate that the zinc fingers mediate sequence-specific DNA binding, while the KRAB domain interacts with KAP1/TRIM28 to facilitate heterochromatin formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF232 Knockout HEK293 Cell Line | EDJ-KQ6114 | Human | 7775 | Details Get a Quote |
| ZNF232 Knockout A-549 Cell Line | EDJ-KQ28564 | Human | 7775 | Details Get a Quote |
| ZNF232 Knockout HCT 116 Cell Line | EDJ-KQ29866 | Human | 7775 | Details Get a Quote |
| ZNF232 Knockout HeLa Cell Line | EDJ-KQ29867 | Human | 7775 | Details Get a Quote |
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