ZNF813: Zinc Finger Protein 813
A Krüppel-associated box (KRAB) domain-containing zinc finger protein with potential roles in transcriptional regulation and disease.
Gene Information Card
| Symbol | ZNF813 |
|---|---|
| Full Name | zinc finger protein 813 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 126248 ncbi.nlm.nih.gov/gene/126248 |
| Ensembl ID | ENSG00000183150 |
| UniProt ID | Q8N5C7 |
| OMIM ID | 618787 |
| HGNC ID | 28335 |
| Aliases | FLJ37453, MGC26733 |
Description
ZNF813 encodes a zinc finger protein of the Krüppel-associated box (KRAB) family. These proteins typically function as transcriptional repressors by recruiting chromatin-modifying complexes. ZNF813 is located on chromosome 19q13.43 and is expressed in multiple tissues. Its specific biological functions and disease associations are under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | RNA-seq |
| K562 | 7.8 | RNA-seq |
| HeLa | 5.4 | RNA-seq |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • nucleic acid binding (GO:0003676) | • zinc ion binding (GO:0008270) |
| • nucleus (GO:0005634) | • metal ion binding (GO:0046872) |
Protein Summary
ZNF813 is a KRAB domain-containing zinc finger protein. The KRAB domain mediates transcriptional repression via interaction with KAP1/TRIM28 and recruitment of histone modifiers. The C2H2-type zinc finger domains are predicted to bind specific DNA sequences. The full range of target genes and physiological functions remain to be elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF813 Knockout HEK293 Cell Line | EDJ-KQ8850 | Human | 126017 | Details Get a Quote |
| ZNF813 Knockout HeLa Cell Line | EDJ-KQ35164 | Human | 126017 | Details Get a Quote |
| ZNF813 Knockout A-549 Cell Line | EDJ-KQ66650 | Human | 126017 | Details Get a Quote |
| ZNF813 Knockout HCT 116 Cell Line | EDJ-KQ75070 | Human | 126017 | Details Get a Quote |
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