ZNF675: Zinc Finger Protein 675
A Krüppel-associated box (KRAB) domain-containing zinc finger transcription factor involved in transcriptional regulation and implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | ZNF675 |
|---|---|
| Full Name | Zinc Finger Protein 675 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p12 |
| NCBI Gene ID | 171392 ncbi.nlm.nih.gov/gene/171392 |
| Ensembl ID | ENSG00000167552 |
| UniProt ID | Q96BR9 |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:25928 |
| Aliases | FLJ33615, MGC138290, MGC138291 |
Description
ZNF675 encodes a Krüppel-associated box (KRAB) domain-containing zinc finger protein. KRAB zinc finger proteins are transcriptional repressors that recruit chromatin-modifying complexes to silence gene expression. ZNF675 is expressed in multiple tissues and may play a role in cell differentiation and development. Its dysregulation has been linked to certain cancers and neurodevelopmental conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression of ZNF675 may disrupt transcriptional regulation of target genes involved in cell proliferation and apoptosis. | COSMIC database reports somatic mutations in multiple cancer types; expression changes observed in tumor samples. |
| Neurodevelopmental disorders | Potential role in neuronal gene regulation; variants in KRAB-ZNF genes are associated with intellectual disability and autism spectrum disorders. | ClinVar lists uncertain significance variants in individuals with developmental delay. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney cells; moderate expression |
| K562 | 9.8 | Leukemia cell line; low expression |
| HeLa | 7.5 | Cervical cancer cells; low expression |
| HepG2 | 6.3 | Liver cancer cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | p.Arg412Cys; may alter DNA-binding affinity |
| c.567delA | Frameshift | 0.002% | Predicted loss of function; truncation |
| c.890G>A | Synonymous | 0.05% | No amino acid change; possible splicing effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function by truncating the protein or triggering nonsense-mediated decay.
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
• No specific curated pathways in Reactome or KEGG for ZNF675.
Protein Summary
ZNF675 is a 675-amino acid protein containing an N-terminal KRAB domain and multiple C2H2-type zinc finger motifs. The KRAB domain mediates interaction with KAP1/TRIM28, recruiting histone deacetylases and methyltransferases to repress transcription. The zinc fingers confer sequence-specific DNA binding. The protein is predominantly nuclear and is expressed in a variety of tissues, with highest levels in testis. Its precise biological targets remain largely uncharacterized, but it is thought to regulate genes involved in development and cell cycle control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF675 Knockout HEK293 Cell Line | EDJ-KQ16323 | Human | 171392 | Details Get a Quote |
| ZNF675 Knockout A-549 Cell Line | EDJ-KQ47730 | Human | 171392 | Details Get a Quote |
| ZNF675 Knockout HCT 116 Cell Line | EDJ-KQ47731 | Human | 171392 | Details Get a Quote |
| ZNF675 Knockout HeLa Cell Line | EDJ-KQ47732 | Human | 171392 | Details Get a Quote |
