ZC3H4 Gene - Zinc Finger CCCH-Type Containing 4
Comprehensive genomic and functional analysis of ZC3H4, a CCCH-type zinc finger protein involved in RNA processing and cellular regulation.
Gene Information Card
| Symbol | ZC3H4 |
|---|---|
| Full Name | Zinc Finger CCCH-Type Containing 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 23211 ncbi.nlm.nih.gov/gene/23211 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9UPT8 |
| OMIM ID | 618447 |
| HGNC ID | 28955 |
| Aliases | C19orf7, FLJ20366, MGC138290, MGC138291 |
Description
ZC3H4 (Zinc Finger CCCH-Type Containing 4) is a protein-coding gene located on chromosome 19q13.2. It encodes a CCCH-type zinc finger protein that is involved in RNA binding and post-transcriptional regulation. The protein contains a CCCH zinc finger domain, which is characteristic of proteins that bind to AU-rich elements in mRNA, influencing mRNA stability and translation. ZC3H4 is ubiquitously expressed and has been implicated in cellular processes including cell proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | ZC3H4 overexpression may promote tumor growth via RNA stabilization of oncogenic transcripts. | COSMIC; limited functional studies |
| Neurodevelopmental disorders | Potential role in neuronal RNA metabolism; association suggested by genomic studies. | OMIM; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.7 | Low |
| Liver | 5.1 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney; moderate expression |
| HeLa | 7.9 | Cervical cancer; low expression |
| K562 | 6.4 | Leukemia; low expression |
| HepG2 | 5.2 | Liver cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Premature stop; likely loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Premature stop; likely loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | <0.1% | Unknown effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (p.Arg412*, p.Trp189*) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • zinc ion binding |
| • nucleus | • cytoplasm |
| • regulation of mRNA stability | • post-transcriptional regulation of gene expression |
Pathways
• mRNA surveillance pathway
• RNA degradation
Protein Summary
ZC3H4 encodes a 597-amino acid protein containing a CCCH-type zinc finger domain (C-x8-C-x5-C-x3-H) that mediates RNA binding. The protein localizes to both the nucleus and cytoplasm and is involved in the regulation of mRNA stability, particularly through binding to AU-rich elements in the 3' UTR of target mRNAs. ZC3H4 may play a role in cell cycle control and differentiation, and its dysregulation has been linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZC3H4 Knockout HEK293 Cell Line | EDJ-KQ170 | Human | 23211 | Details Get a Quote |
| ZC3H4 Knockout A-549 Cell Line | EDJ-KQ47425 | Human | 23211 | Details Get a Quote |
| ZC3H4 Knockout HCT 116 Cell Line | EDJ-KQ47426 | Human | 23211 | Details Get a Quote |
| ZC3H4 Knockout HeLa Cell Line | EDJ-KQ47427 | Human | 23211 | Details Get a Quote |
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