ZNF808: Zinc Finger Protein 808
A Krüppel-associated box (KRAB) domain-containing zinc finger protein with potential roles in transcriptional regulation and disease.
Gene Information Card
| Symbol | ZNF808 |
|---|---|
| Full Name | Zinc Finger Protein 808 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 100507246 ncbi.nlm.nih.gov/gene/100507246 |
| Ensembl ID | ENSG00000267280 |
| UniProt ID | A0A1B0GXU2 |
| OMIM ID | 618675 |
| HGNC ID | 37289 |
| Aliases | FLJ45831 |
Description
ZNF808 is a protein-coding gene that encodes a zinc finger protein containing a Krüppel-associated box (KRAB) domain. KRAB domain-containing proteins typically function as transcriptional repressors by recruiting chromatin-modifying complexes. ZNF808 is predicted to be involved in transcriptional regulation, but its specific biological roles and target genes are not fully characterized. The gene is located on chromosome 19q13.43 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes mellitus, type 2 (T2D) | Potential association via genetic variants; mechanism unclear | GWAS studies (PMID: 30297969) |
| Obesity | Possible link through expression quantitative trait loci (eQTL) | GWAS catalog |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Thyroid | 1.5 | Low |
| Adrenal gland | 1.2 | Low |
| Brain | 0.8 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.8 | Low expression |
| K562 | 0.9 | Not detected |
| HeLa | 0.6 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1446585 | SNV | 0.15 (global) | Intronic variant; potential regulatory effect |
| rs7294695 | SNV | 0.08 (global) | Intronic variant; associated with T2D in GWAS |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • Zinc ion binding (GO:0008270) |
| • DNA-templated (GO:0006355) |
Protein Summary
ZNF808 encodes a KRAB domain-containing zinc finger protein (UniProt A0A1B0GXU2). The protein is predicted to localize to the nucleus and function as a transcriptional repressor. Its specific target genes and physiological roles remain largely unknown, but it may be involved in developmental or metabolic processes based on expression patterns and genetic association studies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF808 Knockout HEK293 Cell Line | EDJ-KQ16377 | Human | 388558 | Details Get a Quote |
| ZNF808 Knockout HCT 116 Cell Line | EDJ-KQ49999 | Human | 388558 | Details Get a Quote |
| ZNF808 Knockout HeLa Cell Line | EDJ-KQ47833 | Human | 388558 | Details Get a Quote |
| ZNF808 Knockout A-549 Cell Line | EDJ-KQ68494 | Human | 388558 | Details Get a Quote |
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