JMJD7-PLA2G4B Readthrough Gene
A readthrough transcript encoding a fusion protein with potential roles in chromatin regulation and phospholipid metabolism.
Gene Information Card
| Symbol | JMJD7-PLA2G4B |
|---|---|
| Full Name | JMJD7-PLA2G4B readthrough |
| Gene Type | Readthrough (fusion transcript) |
| Chromosomal Location | 15q12 |
| NCBI Gene ID | 100526839 ncbi.nlm.nih.gov/gene/100526839 |
| Ensembl ID | ENSG00000259384 |
| UniProt ID | Q6ZVT0 |
| OMIM ID | Not assigned |
| HGNC ID | 44218 |
| Aliases | JMJD7-PLA2G4B readthrough transcript, JMJD7-PLA2G4B fusion |
Description
JMJD7-PLA2G4B is a readthrough gene located on chromosome 15q12 that produces a naturally occurring fusion transcript combining sequences from the JMJD7 (jumonji domain containing 7) and PLA2G4B (phospholipase A2 group IVB) genes. The resulting protein may possess both a JmjC domain (involved in histone demethylation) and a phospholipase A2 domain (involved in lipid signaling). This readthrough event is supported by transcript evidence in NCBI and Ensembl, though functional characterization remains limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential dysregulation of chromatin remodeling and phospholipid signaling pathways; readthrough transcripts are often aberrantly expressed in tumors. | Limited; inferred from component gene functions (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.4 | Low |
| Brain | 0.2 | Low |
| Lung | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.3 | Low expression; readthrough transcript detected |
| K562 | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Not reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • molecular_function (GO:0003674) | • biological_process (GO:0008150) |
Pathways
• Phospholipid metabolism (via PLA2G4B domain)
• Chromatin regulation (via JMJD7 domain)
Protein Summary
The JMJD7-PLA2G4B readthrough protein is a fusion of JMJD7 (a putative JmjC domain-containing histone demethylase) and PLA2G4B (a cytosolic phospholipase A2). The protein is predicted to localize to the nucleus and cytoplasm, potentially linking epigenetic regulation with lipid second messenger production. Its biological significance and disease relevance remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JMJD7-PLA2G4B Knockout HEK293 Cell Line | EDJ-KQ1267 | Human | 8681 | Details Get a Quote |
| JMJD7-PLA2G4B Knockout HCT 116 Cell Line | EDJ-KQ19292 | Human | 8681 | Details Get a Quote |
| JMJD7-PLA2G4B Knockout HeLa Cell Line | EDJ-KQ20644 | Human | 8681 | Details Get a Quote |
| JMJD7-PLA2G4B Knockout A-549 Cell Line | EDJ-KQ63458 | Human | 8681 | Details Get a Quote |
