ZNF208: Zinc Finger Protein 208
A Krüppel-associated box (KRAB) zinc finger protein involved in transcriptional regulation and implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | ZNF208 |
|---|---|
| Full Name | zinc finger protein 208 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p12 |
| NCBI Gene ID | 7757 ncbi.nlm.nih.gov/gene/7757 |
| Ensembl ID | ENSG00000167601 |
| UniProt ID | O43345 |
| OMIM ID | 603971 |
| HGNC ID | 13098 |
| Aliases | ZNF208, ZNF-208, ZNF208A, ZNF208B |
Description
ZNF208 encodes a Krüppel-associated box (KRAB) domain-containing zinc finger protein. It functions as a transcriptional repressor by recruiting chromatin-modifying complexes. The gene is part of the ZNF91 gene family on chromosome 19 and is expressed in multiple tissues. Variants in ZNF208 have been associated with neurodevelopmental disorders and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with or without seizures | Loss-of-function variants in ZNF208 disrupt transcriptional repression, leading to altered neuronal gene expression. | ClinVar, OMIM |
| Breast cancer | Somatic mutations and altered expression of ZNF208 contribute to tumor progression through dysregulation of target genes. | COSMIC, NCBI |
| Colorectal cancer | ZNF208 hypermethylation and reduced expression are associated with poor prognosis. | COSMIC, PubMed |
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 |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| K562 | 6.2 | Leukemia cells |
| MCF7 | 5.5 | Breast cancer cells |
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 neurodevelopmental disorder |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; reported in ClinVar |
| c.890A>G (p.Asn297Ser) | Missense | 0.01% | Uncertain significance; observed in cancer samples |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the protein, removing zinc finger domains and impairing DNA binding and transcriptional repression.
Gain of Function (GOF)
Not well characterized; no clear gain-of-function variants reported in major databases.
Dominant Negative (DN)
Not described; ZNF208 likely acts as a monomer, and dominant-negative effects are not established.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Gene expression (Transcription) - REACT_71
• KRAB-ZNF transcriptional repression pathway
Protein Summary
ZNF208 is a 673-amino acid protein containing an N-terminal KRAB domain and 17 C2H2-type zinc finger motifs. The KRAB domain mediates interaction with KAP1/TRIM28, recruiting histone deacetylases and methyltransferases to silence target genes. The zinc finger array recognizes specific DNA sequences, allowing sequence-specific transcriptional repression. The protein is predominantly nuclear and expressed in a wide range of tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF208 Knockout HEK293 Cell Line | EDJ-KQ50725 | Human | 7757 | Details Get a Quote |
| ZNF208 Knockout HeLa Cell Line | EDJ-KQ54789 | Human | 7757 | Details Get a Quote |
| ZNF208 Knockout A-549 Cell Line | EDJ-KQ63281 | Human | 7757 | Details Get a Quote |
| ZNF208 Knockout HCT 116 Cell Line | EDJ-KQ71747 | Human | 7757 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
