ZNF221 (Zinc Finger Protein 221): A KRAB-ZFP Transcriptional Regulator
Explore the genomic context, expression, and potential roles of ZNF221, a zinc finger protein implicated in transcriptional regulation and cancer.
Gene Information Card
| Symbol | ZNF221 |
|---|---|
| Full Name | zinc finger protein 221 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 7643 ncbi.nlm.nih.gov/gene/7643 |
| Ensembl ID | ENSG00000167601 |
| UniProt ID | Q9UK22 |
| OMIM ID | 604078 |
| HGNC ID | 13022 |
| Aliases | ZFP-221, KRAB-ZFP, ZNF221 |
Description
ZNF221 encodes a zinc finger protein belonging to the Krüppel-associated box (KRAB) domain-containing family of transcription factors. These proteins typically function as transcriptional repressors by recruiting chromatin-modifying complexes to specific DNA sequences. ZNF221 is located on chromosome 19p13.2, a region rich in zinc finger genes. While its exact biological role is not fully characterized, it is expressed in various tissues and has been implicated in cancer and developmental processes. The protein contains multiple C2H2-type zinc finger domains and a KRAB domain, suggesting a role in gene regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Potential dysregulation of transcriptional repression leading to aberrant gene expression; specific mechanism not fully defined. | COSMIC lists ZNF221 mutations in a small percentage of cancer samples; limited functional studies. |
| No specific Mendelian disease | No direct disease association has been established; variants are rare and of uncertain significance. | ClinVar does not list pathogenic variants for ZNF221. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.4 | Medium |
| Thyroid | 8.1 | Low |
| Adrenal gland | 7.3 | Low |
| Bone marrow | 6.5 | Low |
| Other tissues | Below 5 | Low or not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 10.2 | Moderate expression |
| HeLa (cervical cancer) | 7.8 | Low expression |
| A549 (lung cancer) | 6.1 | Low expression |
| GM12878 (lymphoblastoid) | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% (gnomAD) | Unknown; predicted possibly damaging by in silico tools. |
| c.567delA (p.Lys189fs) | Frameshift | Rare | Predicted loss-of-function; may lead to nonsense-mediated decay. |
| c.890G>A (p.Arg297His) | Missense | 0.005% | Unknown; no clinical significance reported. |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations likely result in loss of protein function, potentially impairing transcriptional repression. However, no functional studies confirm this.
Gain of Function (GOF)
No evidence for gain-of-function mutations in ZNF221.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • zinc ion binding |
| • metal ion binding | • nucleus |
| • regulation of transcription | • DNA-templated |
| • transcription repressor activity |
Pathways
• No specific pathways curated in major databases; likely involved in general transcriptional regulation.
Protein Summary
ZNF221 is a 654-amino acid protein with a KRAB domain at the N-terminus and 12 C2H2-type zinc finger motifs. The KRAB domain mediates interaction with KAP1 (TRIM28), recruiting histone methyltransferases and deacetylases to silence target genes. The zinc fingers likely recognize specific DNA sequences, but the exact binding sites are unknown. Structural predictions suggest a canonical zinc finger array. The protein is localized to the nucleus and may play a role in cell differentiation and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF221 Knockout HEK293 Cell Line | EDJ-KQ6061 | Human | 7638 | Details Get a Quote |
| ZNF221 Knockout A-549 Cell Line | EDJ-KQ29749 | Human | 7638 | Details Get a Quote |
| ZNF221 Knockout HCT 116 Cell Line | EDJ-KQ29750 | Human | 7638 | Details Get a Quote |
| ZNF221 Knockout HeLa Cell Line | EDJ-KQ54774 | Human | 7638 | Details Get a Quote |
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