ZC3H7B Gene
Zinc Finger CCCH-Type Containing 7B
Gene Information Card
| Symbol | ZC3H7B |
|---|---|
| Full Name | Zinc Finger CCCH-Type Containing 7B |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 23264 ncbi.nlm.nih.gov/gene/23264 |
| Ensembl ID | ENSG00000100197 |
| UniProt ID | Q9H6T3 |
| OMIM ID | 614278 |
| HGNC ID | 28973 |
| Aliases | ROSA, C22orf2, HSPC055, dJ104K21.2 |
Description
ZC3H7B encodes a protein containing a CCCH-type zinc finger domain, which is involved in RNA binding and post-transcriptional regulation. The protein is part of the CCR4-NOT complex, playing a role in mRNA deadenylation and decay. ZC3H7B is ubiquitously expressed and has been implicated in cellular proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis Pigmentosa | Disruption of ZC3H7B function may affect RNA processing in photoreceptor cells, leading to retinal degeneration. | ClinVar, OMIM |
| Cancer (various) | Altered expression or mutations in ZC3H7B may contribute to tumorigenesis through dysregulation of mRNA stability. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | High expression |
| HeLa | 9.5 | Medium expression |
| K562 | 7.8 | Low expression |
| A549 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.001% | p.Arg412Cys; potential impact on RNA binding |
| c.567delA | Frameshift | <0.001% | Loss of function; truncation |
| c.890G>A | Synonymous | 0.01% | No amino acid change; likely benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause loss of protein function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA binding |
| • CCR4-NOT complex | • cytoplasm |
| • nucleus | • regulation of mRNA stability |
| • mRNA catabolic process |
Pathways
• mRNA surveillance pathway
• RNA degradation
Protein Summary
The ZC3H7B protein is a 1072-amino acid polypeptide that contains a CCCH-type zinc finger domain, which mediates RNA binding. It is a component of the CCR4-NOT complex, a major regulator of mRNA deadenylation and decay. The protein is localized in both the cytoplasm and nucleus and is involved in post-transcriptional gene regulation. Its expression is widespread, with higher levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZC3H7B Knockout HEK293 Cell Line | EDJ-KQ7927 | Human | 23264 | Details Get a Quote |
| ZC3H7B Knockout A-549 Cell Line | EDJ-KQ33568 | Human | 23264 | Details Get a Quote |
| ZC3H7B Knockout HCT 116 Cell Line | EDJ-KQ33569 | Human | 23264 | Details Get a Quote |
| ZC3H7B Knockout HeLa Cell Line | EDJ-KQ33570 | Human | 23264 | Details Get a Quote |
