ZNF214 Gene: Structure, Function, and Clinical Relevance

A comprehensive overview of the ZNF214 gene, its protein product, expression patterns, and associated diseases.

Gene Information Card

Symbol ZNF214
Full Name zinc finger protein 214
Gene Type protein coding
Chromosomal Location 19p13.2
NCBI Gene ID 7761 ncbi.nlm.nih.gov/gene/7761
Ensembl ID ENSG00000167601
UniProt ID Q9UL59
OMIM ID 604078
HGNC ID 13020
Aliases KIAA0424, ZFP214

Description

ZNF214 (zinc finger protein 214) is a protein-coding gene located on chromosome 19p13.2. It encodes a zinc finger protein containing a KRAB (Krüppel-associated box) domain and multiple C2H2-type zinc finger motifs, suggesting a role in transcriptional regulation. The protein is predicted to function as a transcription factor, potentially involved in DNA binding and regulation of gene expression. ZNF214 is part of the large family of KRAB zinc finger proteins, which are involved in diverse processes including development, differentiation, and response to cellular stress. Expression data indicate broad but variable expression across tissues, with highest levels in the testis and certain brain regions. While specific disease associations are not yet well-established, its structural features and expression patterns suggest potential roles in cancer and neurological disorders, warranting further investigation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (general) Potential dysregulation of ZNF214 expression may contribute to tumorigenesis, but specific mechanisms are not yet defined. COSMIC lists ZNF214 as a gene with mutations in various cancer types, but no curated disease association is available.
No specific disease curated No disease has been formally curated in OMIM or ClinVar for ZNF214. OMIM and ClinVar do not list ZNF214 in disease contexts.

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 20.1 Medium
Cerebellum 12.3 Low
Cerebral cortex 8.5 Low
Lung 5.2 Low
Liver 3.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.4 Moderate expression
K562 8.2 Low expression
MCF7 5.6 Low expression
HepG2 2.1 Very low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412Ter) Nonsense 0.001% (gnomAD) Predicted to cause loss of function via nonsense-mediated decay
c.567G>A (p.Trp189Ter) Nonsense 0.0005% (gnomAD) Predicted loss of function
c.890A>G (p.Gln297Arg) Missense 0.01% (gnomAD) Unknown effect; may affect zinc finger domain function
Mutation functional classification

Loss of Function (LOF)

Nonsense mutations leading to premature stop codons are predicted to result in loss of function due to truncated protein or nonsense-mediated decay.

Gain of Function (GOF)

No evidence for gain-of-function mutations in ZNF214.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Pathways

No specific pathways are curated for ZNF214 in major databases.

Protein Summary

The ZNF214 protein is a KRAB zinc finger transcription factor. It contains a KRAB domain at the N-terminus, which is often involved in recruiting co-repressor complexes, and multiple C2H2 zinc finger motifs that mediate sequence-specific DNA binding. The protein is predicted to localize to the nucleus and regulate gene expression. Its exact target genes and biological functions remain largely uncharacterized, but its expression in testis and brain suggests roles in spermatogenesis and neuronal function. Structural predictions indicate a typical architecture for KRAB-ZNF proteins, with the zinc finger array likely recognizing specific DNA motifs.

Related Products

Product name Cat.No. Species Gene ID
ZNF214 Knockout HEK293 Cell Line EDJ-KQ6106 Human 7761 Details Get a Quote
ZNF214 Knockout HCT 116 Cell Line EDJ-KQ29845 Human 7761 Details Get a Quote
ZNF214 Knockout HeLa Cell Line EDJ-KQ29846 Human 7761 Details Get a Quote
ZNF214 Knockout A-549 Cell Line EDJ-KQ63282 Human 7761 Details Get a Quote
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