ZNF114: Zinc Finger Protein 114
A Krüppel-associated box (KRAB) domain-containing zinc finger transcription factor with potential roles in gene regulation and disease.
Gene Information Card
| Symbol | ZNF114 |
|---|---|
| Full Name | zinc finger protein 114 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.41 |
| NCBI Gene ID | 7555 ncbi.nlm.nih.gov/gene/7555 |
| Ensembl ID | ENSG00000104973 |
| UniProt ID | Q8N7A1 |
| OMIM ID | 618536 |
| HGNC ID | 12930 |
| Aliases | MGC126514, MGC126516 |
Description
ZNF114 (zinc finger protein 114) is a protein-coding gene located on chromosome 19q13.41. It encodes a member of the Krüppel-associated box (KRAB) domain-containing zinc finger protein family, which are transcriptional repressors involved in diverse biological processes including development, differentiation, and apoptosis. The protein contains multiple C2H2-type zinc finger domains and a KRAB domain, suggesting it functions as a DNA-binding transcription factor. Expression is detected in various tissues, with highest levels in the testis and brain. Limited functional studies suggest potential roles in cellular signaling and disease, but detailed mechanisms remain to be elucidated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 4.1 | Low |
| Liver | 2.3 | Not detected |
| Kidney | 3.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.0 | RNA-seq data from GTEx |
| K562 | 2.1 | RNA-seq data from GTEx |
| HeLa | 3.4 | RNA-seq data from GTEx |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data:
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • zinc ion binding (GO:0008270) |
| • nucleus (GO:0005634) | • regulation of transcription by RNA polymerase II (GO:0006357) |
Pathways
• No curated pathways in KEGG or Reactome
Protein Summary
ZNF114 is a 546-amino acid protein containing a KRAB domain at the N-terminus and 12 C2H2-type zinc finger motifs. The KRAB domain mediates transcriptional repression through recruitment of co-repressor complexes, while the zinc fingers facilitate sequence-specific DNA binding. The protein is predicted to localize to the nucleus and may regulate target genes involved in cell proliferation and differentiation. Structural and functional characterization remains limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF114 Knockout HEK293 Cell Line | EDJ-KQ5355 | Human | 163071 | Details Get a Quote |
| ZNF114 Knockout A-549 Cell Line | EDJ-KQ29760 | Human | 163071 | Details Get a Quote |
| ZNF114 Knockout HCT 116 Cell Line | EDJ-KQ29762 | Human | 163071 | Details Get a Quote |
| ZNF114 Knockout HeLa Cell Line | EDJ-KQ58851 | Human | 163071 | Details Get a Quote |
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