ZC3H7A Gene - Zinc Finger CCCH-Type Containing 7A
ZC3H7A: A CCCH Zinc Finger Protein Involved in RNA Binding and Cellular Signaling
Gene Information Card
| Symbol | ZC3H7A |
|---|---|
| Full Name | Zinc Finger CCCH-Type Containing 7A |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 29066 ncbi.nlm.nih.gov/gene/29066 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | Q8IWR0 |
| OMIM ID | 614266 |
| HGNC ID | 28955 |
| Aliases | FLJ20097, ZC3H7, HSPC055 |
Description
ZC3H7A encodes a protein containing a CCCH-type zinc finger domain, which is characteristic of RNA-binding proteins involved in post-transcriptional regulation. The protein is implicated in cellular signaling pathways and may play a role in mRNA processing and stability. ZC3H7A is expressed in various tissues and has been associated with certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered expression of ZC3H7A may contribute to tumorigenesis through dysregulation of RNA metabolism. | COSMIC; PMID: 23535601 |
| Hepatocellular Carcinoma | ZC3H7A overexpression correlates with poor prognosis and may promote cell proliferation. | COSMIC; PMID: 28723891 |
| Intellectual Disability | De novo missense variants in ZC3H7A have been reported in patients with neurodevelopmental delay. | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.1 | Low |
| Lung | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Embryonic kidney cells |
| HepG2 | 8.5 | Hepatocellular carcinoma cells |
| A549 | 5.2 | Lung carcinoma cells |
| K562 | 4.1 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416Trp) | Missense | <0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.1873G>A (p.Val625Met) | Missense | <0.01% | Unknown; reported in ClinVar as likely benign |
| c.2345_2346insA (p.Gln782Glufs*3) | Frameshift | <0.01% | Predicted loss-of-function; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function, potentially affecting RNA binding and cellular signaling.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for ZC3H7A.
Dominant Negative (DN)
No dominant-negative mutations have been reported for ZC3H7A.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • zinc ion binding |
| • mRNA processing | • regulation of transcription |
| • DNA-templated | • cytoplasm |
Pathways
• mRNA surveillance pathway
• RNA degradation
Protein Summary
The ZC3H7A protein (UniProt Q8IWR0) is 1,034 amino acids long and contains a CCCH-type zinc finger domain (residues 128-152) that mediates RNA binding. It is localized predominantly in the cytoplasm and is involved in post-transcriptional regulation. The protein interacts with components of the mRNA processing machinery and may influence cell proliferation and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZC3H7A Knockout HEK293 Cell Line | EDJ-KQ8970 | Human | 29066 | Details Get a Quote |
| ZC3H7A Knockout A-549 Cell Line | EDJ-KQ35373 | Human | 29066 | Details Get a Quote |
| ZC3H7A Knockout HCT 116 Cell Line | EDJ-KQ35374 | Human | 29066 | Details Get a Quote |
| ZC3H7A Knockout HeLa Cell Line | EDJ-KQ35375 | Human | 29066 | Details Get a Quote |
