ZNF827
Zinc Finger Protein 827: A Transcriptional Regulator in Neurodevelopment and Cancer
Gene Information Card
| Symbol | ZNF827 |
|---|---|
| Full Name | zinc finger protein 827 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.21 |
| NCBI Gene ID | 152485 ncbi.nlm.nih.gov/gene/152485 |
| Ensembl ID | ENSG00000151692 |
| UniProt ID | Q17R98 |
| OMIM ID | 617979 |
| HGNC ID | 25827 |
| Aliases | FLJ32709, KIAA1456 |
Description
ZNF827 encodes a zinc finger protein of the Krüppel-associated box (KRAB) family, acting as a transcriptional repressor. It is involved in chromatin remodeling, neurodevelopment, and has been implicated in various cancers through regulation of cell proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered transcriptional regulation affecting neuronal differentiation | PMID: 30595372 |
| Breast cancer | Overexpression promotes cell proliferation and invasion | PMID: 31591469 |
| Colorectal cancer | Upregulation associated with poor prognosis and metastasis | PMID: 32467234 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Breast | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HCT116 | 7.4 | Colorectal cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein and loss of transcriptional repression activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • zinc ion binding |
| • regulation of transcription by RNA polymerase II | • chromatin binding |
Pathways
• Transcriptional regulation by KRAB zinc finger proteins
• Chromatin remodeling
Protein Summary
ZNF827 is a 748-amino acid protein containing 13 C2H2-type zinc finger domains and a KRAB domain at the N-terminus. It localizes to the nucleus and represses transcription by recruiting chromatin modifiers such as histone deacetylases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF827 Knockout HEK293 Cell Line | EDJ-KQ11404 | Human | 152485 | Details Get a Quote |
| ZNF827 Knockout A-549 Cell Line | EDJ-KQ39620 | Human | 152485 | Details Get a Quote |
| ZNF827 Knockout HCT 116 Cell Line | EDJ-KQ39621 | Human | 152485 | Details Get a Quote |
| ZNF827 Knockout HeLa Cell Line | EDJ-KQ39622 | Human | 152485 | Details Get a Quote |
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