ZNF800: Zinc Finger Protein 800
Transcriptional Regulator with Emerging Roles in Development and Disease
Gene Information Card
| Symbol | ZNF800 |
|---|---|
| Full Name | zinc finger protein 800 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q36.1 |
| NCBI Gene ID | 168850 ncbi.nlm.nih.gov/gene/168850 |
| Ensembl ID | ENSG00000146587 |
| UniProt ID | Q6ZNG0 |
| OMIM ID | 618544 |
| HGNC ID | 26000 |
| Aliases | FLJ32743, MGC138290 |
Description
ZNF800 encodes a zinc finger protein of the Krüppel-associated box (KRAB) family, characterized by an N-terminal KRAB domain and multiple C2H2-type zinc finger motifs. It is predicted to function as a transcriptional repressor involved in chromatin remodeling and gene regulation. ZNF800 is expressed in a wide range of tissues and has been implicated in developmental processes and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental disorder with intellectual disability | Loss-of-function variants in ZNF800 are associated with autosomal dominant intellectual disability and developmental delay. | ClinVar, OMIM |
| Colorectal cancer | ZNF800 expression is altered in colorectal tumors; potential tumor suppressor role. | COSMIC, literature |
| Breast cancer | Somatic mutations and altered expression reported in breast cancer samples. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
| Heart | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney; moderate expression |
| HeLa | 7.5 | Cervical cancer; low expression |
| K562 | 6.8 | Leukemia; low expression |
| MCF7 | 5.2 | Breast cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with developmental disorder |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Loss of function; reported in ClinVar |
| c.2101G>A (p.Gly701Arg) | Missense | 0.01% | Uncertain significance; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or truncated protein; associated with developmental disorders.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established; potential dominant-negative effect of certain missense variants remains speculative.
View complete mutation data：
Gene Ontology (GO)
Pathways
• No curated pathway annotations in Reactome or KEGG.
Protein Summary
ZNF800 is a 742-amino acid protein containing a KRAB domain at the N-terminus and 12 C2H2-type zinc finger motifs. It localizes to the nucleus and is thought to repress transcription by recruiting chromatin-modifying complexes. The protein is widely expressed, with highest levels in testis. Structural predictions indicate a role in sequence-specific DNA binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF800 Knockout HEK293 Cell Line | EDJ-KQ15647 | Human | 168850 | Details Get a Quote |
| ZNF800 Knockout HCT 116 Cell Line | EDJ-KQ49994 | Human | 168850 | Details Get a Quote |
| ZNF800 Knockout HeLa Cell Line | EDJ-KQ49995 | Human | 168850 | Details Get a Quote |
| ZNF800 Knockout A-549 Cell Line | EDJ-KQ47825 | Human | 168850 | Details Get a Quote |
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