ZNF239: Zinc Finger Protein 239
A KRAB-ZFP transcription factor with roles in genomic imprinting and potential tumor suppression
Gene Information Card
| Symbol | ZNF239 |
|---|---|
| Full Name | zinc finger protein 239 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q11.22 |
| NCBI Gene ID | 8187 ncbi.nlm.nih.gov/gene/8187 |
| Ensembl ID | ENSG00000119915 |
| UniProt ID | Q16600 |
| OMIM ID | 604760 |
| HGNC ID | 13047 |
| Aliases | ZNF239, MOK2, HKR1, ZNF239P |
Description
ZNF239 (zinc finger protein 239) encodes a KRAB domain-containing zinc finger transcription factor. It is involved in transcriptional repression, genomic imprinting, and may function as a tumor suppressor. The protein localizes to the nucleus and binds specific DNA sequences to regulate gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and potential loss of tumor suppressor function | COSMIC, literature |
| Imprinting disorders | Dysregulation of genomic imprinting due to ZNF239 alterations | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.1 | Embryonic kidney |
| HeLa | 9.8 | Cervical cancer |
| A549 | 7.4 | Lung cancer |
| MCF7 | 5.6 | Breast cancer |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T | missense | 0.02% | p.Arg339Cys; potential loss of DNA binding |
| c.1234delG | frameshift | 0.01% | p.Glu412Lysfs*5; loss of function |
| c.789G>A | synonymous | 0.05% | p.Pro263Pro; no known effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, removing zinc finger domains and impairing DNA binding.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
Pathways
• No specific curated pathways in Reactome or KEGG for ZNF239.
Protein Summary
ZNF239 is a 673-amino acid protein containing a KRAB domain at the N-terminus and multiple C2H2-type zinc finger motifs. It acts as a transcriptional repressor by recruiting chromatin-modifying complexes. The protein is implicated in genomic imprinting and may suppress tumor growth by regulating cell cycle and apoptosis genes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF239 Knockout HEK293 Cell Line | EDJ-KQ5481 | Human | 8187 | Details Get a Quote |
| ZNF239 Knockout A-549 Cell Line | EDJ-KQ30006 | Human | 8187 | Details Get a Quote |
| ZNF239 Knockout HCT 116 Cell Line | EDJ-KQ30008 | Human | 8187 | Details Get a Quote |
| ZNF239 Knockout HeLa Cell Line | EDJ-KQ30009 | Human | 8187 | Details Get a Quote |
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