ZNF8
Zinc Finger Protein 8: A KRAB-ZFP Transcription Regulator
Gene Information Card
| Symbol | ZNF8 |
|---|---|
| Full Name | zinc finger protein 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 7554 ncbi.nlm.nih.gov/gene/7554 |
| Ensembl ID | ENSG00000105675 |
| UniProt ID | P17040 |
| OMIM ID | 603974 |
| HGNC ID | 13154 |
| Aliases | HF.18, ZNF-8, Zfp8 |
Description
ZNF8 encodes a zinc finger protein of the Krüppel-associated box (KRAB) domain-containing family. It functions as a transcriptional repressor by binding to specific DNA sequences and recruiting chromatin-modifying complexes. The protein is involved in regulating cell proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | Not established |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Low |
| Prostate | 7.1 | Low |
| Lung | 5.3 | Low |
| Brain | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cell line |
| K562 | 8.5 | Leukemia cell line |
| HeLa | 6.7 | Cervical carcinoma cell line |
| HepG2 | 5.9 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Cys) | Missense | <0.01% | Unknown functional impact |
| c.245G>A (p.Arg82His) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
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)
Pathways
• KRAB-ZFP transcriptional repression pathway
Protein Summary
ZNF8 is a 498-amino acid protein containing a KRAB domain at the N-terminus and multiple C2H2-type zinc finger motifs at the C-terminus. It localizes to the nucleus and represses transcription by recruiting co-repressors such as KAP1/TRIM28. The protein is expressed in various tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF8 Knockout HEK293 Cell Line | EDJ-KQ6028 | Human | 7554 | Details Get a Quote |
| ZNF81 Knockout HEK293 Cell Line | EDJ-KQ6059 | Human | 347344 | Details Get a Quote |
| ZNF84 Knockout HEK293 Cell Line | EDJ-KQ6062 | Human | 7637 | Details Get a Quote |
| ZNF80 Knockout HEK293 Cell Line | EDJ-KQ6066 | Human | 7634 | Details Get a Quote |
| ZNF837 Knockout HEK293 Cell Line | EDJ-KQ7567 | Human | 116412 | Details Get a Quote |
| ZNF816 Knockout HEK293 Cell Line | EDJ-KQ8059 | Human | 125893 | Details Get a Quote |
| ZNF804B Knockout HEK293 Cell Line | EDJ-KQ8214 | Human | 219578 | Details Get a Quote |
| ZNF831 Knockout HEK293 Cell Line | EDJ-KQ8419 | Human | 128611 | Details Get a Quote |
| ZNF813 Knockout HEK293 Cell Line | EDJ-KQ8850 | Human | 126017 | Details Get a Quote |
| ZNF835 Knockout HEK293 Cell Line | EDJ-KQ10604 | Human | 90485 | Details Get a Quote |
| ZNF845 Knockout HEK293 Cell Line | EDJ-KQ10771 | Human | 91664 | Details Get a Quote |
| ZNF804A Knockout HEK293 Cell Line | EDJ-KQ10776 | Human | 91752 | Details Get a Quote |
| ZNF827 Knockout HEK293 Cell Line | EDJ-KQ11404 | Human | 152485 | Details Get a Quote |
| ZNF880 Knockout HEK293 Cell Line | EDJ-KQ11581 | Human | 400713 | Details Get a Quote |
| ZNF814 Knockout HEK293 Cell Line | EDJ-KQ11585 | Human | 730051 | Details Get a Quote |
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