ZNF227 Gene - Zinc Finger Protein 227: Structure, Function, and Clinical Significance
A comprehensive biomedical overview of ZNF227, a KRAB-ZNF transcription factor, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | ZNF227 |
|---|---|
| Full Name | zinc finger protein 227 |
| Gene Type | protein coding |
| Chromosomal Location | 19q13.43 (GRCh38) |
| NCBI Gene ID | 284390 ncbi.nlm.nih.gov/gene/284390 |
| Ensembl ID | ENSG00000105610 |
| UniProt ID | Q8N1C0 |
| OMIM ID | Not available |
| HGNC ID | 13044 |
| Aliases | KIAA1127, ZNF227 |
Description
ZNF227 (zinc finger protein 227) is a protein-coding gene located on chromosome 19q13.43. It encodes a zinc finger protein belonging to the Krüppel-associated box (KRAB) domain-containing zinc finger family, which are transcriptional regulators involved in various cellular processes including development, differentiation, and apoptosis. ZNF227 is characterized by multiple C2H2-type zinc finger domains and a KRAB domain at the N-terminus, suggesting a role in transcriptional repression. The gene is expressed in multiple tissues and has been implicated in several cancers and other diseases, though its precise functions are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression; potential role in tumor suppression or oncogenesis | COSMIC: mutations and expression changes observed in multiple cancer types |
| Neuroblastoma | Differential expression; possible involvement in tumor progression | PubMed studies (via NCBI) |
| Hepatocellular carcinoma | Downregulation associated with poor prognosis | PubMed studies (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.4 | Medium |
| Thyroid | 8.7 | Low |
| Adrenal gland | 7.9 | Low |
| Bone marrow | 6.8 | Low |
| Lung | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 10.5 | Moderate expression |
| HeLa (cervical cancer) | 8.1 | Low expression |
| A549 (lung carcinoma) | 6.3 | Low expression |
| HepG2 (hepatocellular carcinoma) | 5.9 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | 0.01% (gnomAD) | Premature truncation; likely loss of function |
| c.456G>A (p.Val152Ile) | Missense | 0.05% (gnomAD) | Unknown; possibly benign |
| c.789del (p.Gly264AlafsTer23) | Frameshift | 0.001% (COSMIC) | Loss of function; observed in cancer samples |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated proteins are likely to result in loss of function, potentially affecting transcriptional regulation.
Gain of Function (GOF)
No evidence for gain-of-function mutations currently.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • zinc ion binding |
| • metal ion binding | • nucleus |
| • regulation of transcription by RNA polymerase II |
Pathways
• No specific pathways curated in major databases; likely involved in transcriptional regulation networks.
Protein Summary
ZNF227 is a KRAB domain-containing zinc finger protein that likely functions as a transcriptional repressor. It contains multiple C2H2 zinc finger motifs that mediate sequence-specific DNA binding. The KRAB domain interacts with corepressors such as KAP1, leading to chromatin remodeling and gene silencing. ZNF227 is expressed in various tissues, with highest levels in testis, and is implicated in cancer biology, where its dysregulation may contribute to tumorigenesis. Further studies are needed to fully elucidate its target genes and physiological roles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF227 Knockout HEK293 Cell Line | EDJ-KQ6115 | Human | 7770 | Details Get a Quote |
| ZNF227 Knockout A-549 Cell Line | EDJ-KQ29868 | Human | 7770 | Details Get a Quote |
| ZNF227 Knockout HCT 116 Cell Line | EDJ-KQ29869 | Human | 7770 | Details Get a Quote |
| ZNF227 Knockout HeLa Cell Line | EDJ-KQ29870 | Human | 7770 | Details Get a Quote |
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