ZNF473
Zinc Finger Protein 473: A C2H2-Type Transcription Factor Involved in RNA Processing and Potential Oncogenic Roles
Gene Information Card
| Symbol | ZNF473 |
|---|---|
| Full Name | zinc finger protein 473 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 25888 ncbi.nlm.nih.gov/gene/25888 |
| Ensembl ID | ENSG00000142541 |
| UniProt ID | Q8WTR7 |
| OMIM ID | 618365 |
| HGNC ID | 21028 |
| Aliases | ZNF473, FLJ11273, ZFP473 |
Description
ZNF473 encodes a C2H2-type zinc finger protein that functions as a transcription factor. It is involved in RNA processing, particularly in the regulation of small nuclear RNA (snRNA) and ribosomal RNA (rRNA) maturation. The protein localizes to the nucleolus and interacts with components of the spliceosome and ribosome biogenesis machinery. ZNF473 has been implicated in cellular proliferation and is overexpressed in several cancer types, suggesting a potential oncogenic role.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Overexpression of ZNF473 may promote cell proliferation and tumor growth through dysregulation of RNA processing pathways. | COSMIC; literature (PMID: 31073040) |
| Breast cancer | ZNF473 is amplified and overexpressed in breast cancer, correlating with poor prognosis. | COSMIC; literature (PMID: 31073040) |
| Lung cancer | ZNF473 expression is elevated in lung adenocarcinoma and associated with aggressive disease. | COSMIC; literature (PMID: 31073040) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Lymph node | 10.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression |
| HeLa | 14.2 | Medium expression |
| A549 | 12.0 | Medium expression |
| MCF7 | 16.8 | High expression |
| K562 | 11.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000C>T (p.Arg334Cys) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.1456G>A (p.Gly486Ser) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.200_201insA (p.Gln68fs) | Frameshift | <0.1% | Predicted loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Gln68fs) are predicted to cause loss of function by truncating the protein and disrupting zinc finger domains.
Gain of Function (GOF)
No confirmed gain-of-function mutations have been reported; overexpression in cancer may mimic gain-of-function effects.
Dominant Negative (DN)
No evidence for dominant-negative mutations currently available.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ribosome biogenesis (Reactome: R-HSA-6791226)
• mRNA splicing - Major pathway (Reactome: R-HSA-72163)
• Gene expression (Transcription) (Reactome: R-HSA-74160)
Protein Summary
ZNF473 is a 486-amino acid protein containing multiple C2H2-type zinc finger domains. It localizes to the nucleolus and functions in RNA processing, including rRNA maturation and snRNA splicing. The protein interacts with RNA polymerase II and spliceosomal components. Overexpression of ZNF473 is observed in various cancers, where it may drive proliferation by enhancing ribosome biogenesis and splicing efficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF473 Knockout HEK293 Cell Line | EDJ-KQ8283 | Human | 25888 | Details Get a Quote |
| ZNF473 Knockout A-549 Cell Line | EDJ-KQ34238 | Human | 25888 | Details Get a Quote |
| ZNF473 Knockout HCT 116 Cell Line | EDJ-KQ34239 | Human | 25888 | Details Get a Quote |
| ZNF473 Knockout HeLa Cell Line | EDJ-KQ34240 | Human | 25888 | Details Get a Quote |
