ZC3HAV1L Gene - GeneCards | ZC3HAV1L Antibody, Protein, cDNA
ZC3HAV1L (ZC3HAV1 Like) is a Protein Coding gene. Diseases associated with ZC3HAV1L include ... Among its related pathways are ... Gene Ontology (GO) annotations related to this gene include ... An important paralog of this gene is ZC3HAV1.
Gene Information Card
| Symbol | ZC3HAV1L |
|---|---|
| Full Name | ZC3HAV1 like |
| Gene Type | gene with protein product |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 92092 ncbi.nlm.nih.gov/gene/92092 |
| Ensembl ID | ENSG00000146858 |
| UniProt ID | Q96H79 |
| OMIM ID | Not available |
| HGNC ID | HGNC:22423 |
| Aliases | MGC14289, C7orf39 |
Description
ZC3HAV1L (ZC3HAV1 Like) is a protein-coding gene located on chromosome 7q34. It is also known as MGC14289 and C7orf39. The gene encodes a protein that contains a zinc finger CCCH-type domain, suggesting a role in RNA binding or regulation. However, the specific function of ZC3HAV1L is not fully characterized. It may be involved in antiviral defense or RNA metabolism, similar to its paralog ZC3HAV1. Further research is needed to elucidate its biological roles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not established | Unknown | No direct disease association has been reported in OMIM or ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Spleen | 3.1 | Low |
| Lung | 2.8 | Low |
| Kidney | 2.5 | Low |
| Brain | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 4.5 | Low expression |
| HeLa | 3.2 | Low expression |
| A549 | 2.7 | Low expression |
| HepG2 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41M) | Missense | 0.01% | Unknown |
| c.456C>T (p.R153*) | Nonsense | 0.005% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations such as p.R153* are predicted to result in a truncated protein, likely leading to 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)
| • RNA binding | • zinc ion binding |
Pathways
• No known pathways
Protein Summary
The ZC3HAV1L protein is predicted to contain a CCCH-type zinc finger domain, which is often involved in RNA binding. It may play a role in post-transcriptional regulation, possibly in immune responses. However, its exact function remains to be determined. The protein is expressed at low levels in various tissues, with highest expression in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZC3HAV1L Knockout HEK293 Cell Line | EDJ-KQ10832 | Human | 92092 | Details Get a Quote |
| ZC3HAV1L Knockout A-549 Cell Line | EDJ-KQ38483 | Human | 92092 | Details Get a Quote |
| ZC3HAV1L Knockout HCT 116 Cell Line | EDJ-KQ38484 | Human | 92092 | Details Get a Quote |
| ZC3HAV1L Knockout HeLa Cell Line | EDJ-KQ38485 | Human | 92092 | Details Get a Quote |
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