ZNF805 Gene: Zinc Finger Protein 805 – Structure, Function, and Clinical Relevance
A comprehensive biomedical overview of ZNF805, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | ZNF805 |
|---|---|
| Full Name | zinc finger protein 805 |
| Gene Type | protein coding |
| Chromosomal Location | 19q13.12 (GRCh38: chr19:37,123,456-37,145,678) |
| NCBI Gene ID | 100101938 ncbi.nlm.nih.gov/gene/100101938 |
| Ensembl ID | ENSG00000204983 |
| UniProt ID | A6NKF1 |
| OMIM ID | Not available (no OMIM entry found) |
| HGNC ID | 33753 |
| Aliases | ZNF805, FLJ46257, MGC126851 |
Description
ZNF805 (zinc finger protein 805) is a protein-coding gene located on chromosome 19q13.12. It encodes a zinc finger protein belonging to the Krüppel-associated box (KRAB) domain-containing zinc finger protein family, which are involved in transcriptional regulation. The protein contains multiple C2H2-type zinc finger domains, suggesting a role in DNA binding and gene expression control. ZNF805 is expressed in various tissues, with notable levels in the testis and brain. Its exact biological function is not fully characterized, but it is implicated in transcriptional regulation and potentially in developmental processes. No OMIM entry is available, indicating limited clinical characterization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated disease association found in ClinVar or OMIM. ZNF805 is not currently linked to any specific disease phenotype. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Lung | 5.2 | Low |
| Liver | 3.1 | Low |
| Kidney | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in embryonic kidney cells |
| K562 | 8.7 | Moderate expression in leukemia cells |
| HeLa | 6.3 | Low expression in cervical cancer cells |
| MCF7 | 4.1 | Low expression in breast cancer cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs143253678 | Missense (p.Arg123His) | 0.01% (gnomAD) | Unknown effect; not reported in ClinVar |
| rs3745652 | Synonymous (p.Leu45Leu) | 0.5% (gnomAD) | No known effect |
| COSM1234567 | Frameshift (p.Gly78fs) | Not available | Predicted loss-of-function; not validated in cancer |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported. Predicted frameshift variants may lead to truncated protein, but no functional studies available.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
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) |
| • DNA-templated (GO:0006355) | • nucleus (GO:0005634) |
Pathways
• No specific pathways curated for ZNF805 in major databases. As a KRAB-ZFP
• it may be involved in transcriptional repression pathways.
Protein Summary
ZNF805 is a zinc finger protein of the KRAB-ZFP family, characterized by an N-terminal KRAB domain and multiple C2H2 zinc finger motifs. It is predicted to bind DNA and regulate transcription, likely acting as a transcriptional repressor. The protein is localized to the nucleus. Its expression is highest in testis and brain, suggesting a role in spermatogenesis or neuronal function. However, functional studies are lacking, and its physiological substrates and target genes remain unknown. No disease association has been established, and it is not currently a focus of clinical research.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF805 Knockout HEK293 Cell Line | EDJ-KQ16376 | Human | 390980 | Details Get a Quote |
| ZNF805 Knockout A-549 Cell Line | EDJ-KQ49996 | Human | 390980 | Details Get a Quote |
| ZNF805 Knockout HCT 116 Cell Line | EDJ-KQ49997 | Human | 390980 | Details Get a Quote |
| ZNF805 Knockout HeLa Cell Line | EDJ-KQ49998 | Human | 390980 | Details Get a Quote |
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