ZNF814: Zinc Finger Protein 814
A KRAB-Zinc Finger Transcription Factor with Emerging Roles in Gene Regulation
Gene Information Card
| Symbol | ZNF814 |
|---|---|
| Full Name | Zinc Finger Protein 814 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 730051 ncbi.nlm.nih.gov/gene/730051 |
| Ensembl ID | ENSG00000196678 |
| UniProt ID | Q6ZSB9 |
| OMIM ID | 619358 |
| HGNC ID | 28287 |
| Aliases | FLJ32942, MGC138290 |
Description
ZNF814 encodes a zinc finger protein of the Krüppel-associated box (KRAB) family. KRAB-ZNF proteins are transcriptional repressors that recruit chromatin-modifying complexes to specific genomic loci via their C2H2 zinc finger domains. ZNF814 is predicted to bind DNA and regulate gene expression, with potential roles in development, cell differentiation, and genomic stability. Its precise biological functions are under active investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Spleen | 5.4 | Low |
| Bone marrow | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 10.3 | Moderate expression |
| HEK 293 (embryonic kidney) | 7.8 | Low expression |
| HeLa (cervical carcinoma) | 6.5 | Low expression |
| HepG2 (hepatocellular carcinoma) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations in COSMIC or ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
Pathways
• No curated pathways
Protein Summary
ZNF814 is a KRAB domain-containing zinc finger protein. The KRAB domain mediates interaction with KAP1/TRIM28, recruiting histone deacetylases and methyltransferases to silence target genes. The C2H2 zinc fingers are predicted to recognize specific DNA sequences. The protein localizes to the nucleus and likely functions as a sequence-specific transcriptional repressor. Its expression is highest in testis, suggesting a role in spermatogenesis or germ cell development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF814 Knockout HEK293 Cell Line | EDJ-KQ11585 | Human | 730051 | Details Get a Quote |
| ZNF814 Knockout A-549 Cell Line | EDJ-KQ39920 | Human | 730051 | Details Get a Quote |
| ZNF814 Knockout HCT 116 Cell Line | EDJ-KQ39921 | Human | 730051 | Details Get a Quote |
| ZNF814 Knockout HeLa Cell Line | EDJ-KQ39922 | Human | 730051 | Details Get a Quote |
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