ZCCHC7
Zinc Finger CCHC Domain-Containing Protein 7
Gene Information Card
| Symbol | ZCCHC7 |
|---|---|
| Full Name | Zinc Finger CCHC Domain-Containing Protein 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 79686 ncbi.nlm.nih.gov/gene/79686 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q8N3Z0 |
| OMIM ID | 617977 |
| HGNC ID | 28989 |
| Aliases | FLJ11273, ZCCHC7, zinc finger CCHC-type containing 7 |
Description
ZCCHC7 is a protein-coding gene located on chromosome 9q34.3. It encodes a zinc finger protein containing CCHC-type domains, which are typically involved in nucleic acid binding. The protein is predicted to localize to the nucleus and may play a role in RNA processing or gene regulation. Expression data suggest broad but low-level expression across tissues. Limited functional studies exist, but alterations in ZCCHC7 have been reported in some cancer types.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung adenocarcinoma | Somatic mutations (e.g., missense) observed in COSMIC; potential tumor suppressor role | COSMIC v99 |
| Colorectal carcinoma | Copy number alterations and mutations reported | COSMIC v99 |
| Breast cancer | Rare mutations identified in sequencing studies | COSMIC v99 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Low |
| Thyroid | 2.8 | Low |
| Adrenal gland | 2.5 | Low |
| Lung | 1.9 | Low |
| Brain | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.1 | Embryonic kidney; moderate expression |
| HeLa | 1.8 | Cervical carcinoma; low expression |
| A549 | 1.5 | Lung carcinoma; low expression |
| K562 | 1.2 | Leukemia; low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly111Arg | Missense | <0.1% | Unknown; predicted possibly damaging |
| p.Arg245* | Nonsense | <0.1% | Loss of function; truncation |
| c.1234_1235del | Frameshift deletion | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to cause loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • nucleic acid binding (GO:0003676) | • zinc ion binding (GO:0008270) |
| • nucleus (GO:0005634) |
Protein Summary
ZCCHC7 encodes a 546-amino acid protein containing two CCHC-type zinc finger domains. The protein is predicted to bind nucleic acids and localize to the nucleus. Its exact biological function remains poorly characterized, but it may be involved in RNA metabolism or transcriptional regulation. Expression is low across most tissues, with highest levels in testis and thyroid. Mutations are rare but have been reported in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZCCHC7 Knockout HEK293 Cell Line | EDJ-KQ10003 | Human | 84186 | Details Get a Quote |
| ZCCHC7 Knockout A-549 Cell Line | EDJ-KQ36973 | Human | 84186 | Details Get a Quote |
| ZCCHC7 Knockout HCT 116 Cell Line | EDJ-KQ36974 | Human | 84186 | Details Get a Quote |
| ZCCHC7 Knockout HeLa Cell Line | EDJ-KQ35762 | Human | 84186 | Details Get a Quote |