SYNJ2BP-COX16 readthrough (NMD candidate)
A readthrough transcript encoding a fusion of Synaptojanin 2 Binding Protein and Cytochrome c Oxidase Assembly Factor 16, subject to nonsense-mediated decay.
Gene Information Card
| Symbol | SYNJ2BP-COX16 |
|---|---|
| Full Name | SYNJ2BP-COX16 readthrough (NMD candidate) |
| Gene Type | Readthrough (NMD candidate) |
| Chromosomal Location | 14q24.2 |
| NCBI Gene ID | 100526692 ncbi.nlm.nih.gov/gene/100526692 |
| Ensembl ID | ENSG00000269335 |
| UniProt ID | Not available (NMD candidate) |
| OMIM ID | Not available |
| HGNC ID | HGNC:40087 |
| Aliases | SYNJ2BP-COX16 readthrough transcript |
Description
SYNJ2BP-COX16 is a readthrough transcript located on chromosome 14q24.2 that spans the adjacent SYNJ2BP and COX16 genes. The transcript is predicted to undergo nonsense-mediated decay (NMD) and is not expected to produce a stable protein product. SYNJ2BP encodes a protein involved in endocytosis and vesicle trafficking, while COX16 encodes a mitochondrial inner membrane protein essential for cytochrome c oxidase assembly. The readthrough transcript may serve a regulatory role in the expression of these neighboring genes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not applicable | No curated disease entries in OMIM, ClinVar, or COSMIC for this readthrough gene. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Brain | 0.1 | Low |
| Heart | 0.1 | Low |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.2 | Low expression |
| HEK293 | 0.1 | Low expression |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available; NMD candidate transcript unlikely to encode functional protein.
Gain of Function (GOF)
No data available.
Dominant Negative (DN)
No data available.
View complete mutation data：
Protein Summary
The SYNJ2BP-COX16 readthrough transcript is predicted to be a target of nonsense-mediated decay and is not expected to produce a stable protein. Therefore, no functional protein product is associated with this gene. The individual SYNJ2BP and COX16 proteins are well-characterized: SYNJ2BP participates in clathrin-mediated endocytosis and interacts with synaptojanin 2, while COX16 is a mitochondrial assembly factor required for cytochrome c oxidase (Complex IV) biogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYNJ2BP-COX16 Knockout HEK293 Cell Line | EDJ-KQ52499 | Human | 100529257 | Details Get a Quote |
| SYNJ2BP-COX16 Knockout HeLa Cell Line | EDJ-KQ60962 | Human | 100529257 | Details Get a Quote |
| SYNJ2BP-COX16 Knockout A-549 Cell Line | EDJ-KQ69437 | Human | 100529257 | Details Get a Quote |
| SYNJ2BP-COX16 Knockout HCT 116 Cell Line | EDJ-KQ77788 | Human | 100529257 | Details Get a Quote |
