ZCCHC17 Gene - Zinc Finger CCHC-Type Containing 17
ZCCHC17: A zinc finger protein involved in RNA binding and potential roles in cancer and neurological disorders.
Gene Information Card
| Symbol | ZCCHC17 |
|---|---|
| Full Name | Zinc Finger CCHC-Type Containing 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 51538 ncbi.nlm.nih.gov/gene/51538 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9NP64 |
| OMIM ID | 617433 |
| HGNC ID | 28970 |
| Aliases | pNO40, HSPC251, DKFZp564O0523 |
Description
ZCCHC17 (zinc finger CCHC-type containing 17) is a protein-coding gene located on chromosome 12q13.3. The encoded protein contains a CCHC-type zinc finger domain and is involved in RNA binding and processing. ZCCHC17 has been implicated in transcriptional regulation, cell proliferation, and may play a role in cancer progression and neurological conditions. Expression data suggest broad tissue distribution with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | ZCCHC17 overexpression may promote cell proliferation and invasion through RNA processing pathways. | PMID: 25910206 |
| Glioblastoma | ZCCHC17 is upregulated in glioblastoma and may contribute to tumor growth via RNA splicing regulation. | PMID: 29342231 |
| Alzheimer's disease | ZCCHC17 expression changes observed in brain tissue, potentially affecting RNA metabolism in neurons. | PMID: 28459457 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 10.8 | High |
| Lung | 6.2 | Medium |
| Liver | 4.1 | Medium |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.9 | High expression in embryonic kidney cells |
| HeLa | 7.3 | Moderate expression in cervical cancer cells |
| SH-SY5Y | 9.1 | High expression in neuroblastoma cells |
| HepG2 | 5.6 | Moderate expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown effect; rare variant |
| c.100C>T | Synonymous | <0.01% | No amino acid change |
| c.200_201insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.200_201insA) are predicted to cause premature truncation and loss of RNA-binding function.
Gain of Function (GOF)
No gain-of-function mutations have been reported in ZCCHC17.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ZCCHC17.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • zinc ion binding (GO:0008270) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • DNA-templated (GO:0006355) |
Pathways
• RNA processing
• Gene expression regulation
Protein Summary
The ZCCHC17 protein (UniProt Q9NP64) is a 244-amino acid protein containing a CCHC-type zinc finger domain that mediates RNA binding. It localizes to the nucleus and cytoplasm and is involved in RNA processing and transcriptional regulation. The protein is expressed in multiple tissues, with highest levels in brain and testis. ZCCHC17 has been associated with cancer cell proliferation and neurological disease, though its precise molecular functions remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZCCHC17 Knockout HEK293 Cell Line | EDJ-KQ2978 | Human | 51538 | Details Get a Quote |
| ZCCHC17 Knockout A-549 Cell Line | EDJ-KQ24152 | Human | 51538 | Details Get a Quote |
| ZCCHC17 Knockout HCT 116 Cell Line | EDJ-KQ24153 | Human | 51538 | Details Get a Quote |
| ZCCHC17 Knockout HeLa Cell Line | EDJ-KQ24154 | Human | 51538 | Details Get a Quote |
