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.
View complete mutation data:
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • zinc ion binding (GO:0008270) |
| • regulation of transcription by RNA polymerase II (GO:0006357) | • nucleus (GO:0005634) |
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 Services
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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