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.

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 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
Displaying Records 1 To 4 Of 4 Records
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