BCL2L2-PABPN1 readthrough (NMD candidate)
A readthrough transcript between BCL2L2 and PABPN1, predicted to undergo nonsense-mediated decay (NMD).
Gene Information Card
| Symbol | BCL2L2-PABPN1 |
|---|---|
| Full Name | BCL2L2-PABPN1 readthrough (NMD candidate) |
| Gene Type | Readthrough (NMD candidate) |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 100528031 ncbi.nlm.nih.gov/gene/100528031 |
| Ensembl ID | ENSG00000259330 |
| UniProt ID | Not applicable (NMD candidate) |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:44277 |
| Aliases | BCL2L2-PABPN1 readthrough |
Description
BCL2L2-PABPN1 is a readthrough transcript that spans the BCL2L2 and PABPN1 genes on chromosome 14q11.2. This transcript is predicted to undergo nonsense-mediated decay (NMD) and is unlikely to produce a functional protein. The readthrough is supported by transcript evidence in NCBI and Ensembl.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oculopharyngeal muscular dystrophy (OPMD) | PABPN1 expansion; readthrough transcript may be affected indirectly | Indirect; PABPN1 is causal, readthrough role not established |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | Not available (NMD candidate) | Predicted low due to NMD |
| Heart | Not available (NMD candidate) | Predicted low due to NMD |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | NMD candidate; no reliable expression data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Not applicable | Readthrough transcript | Not applicable | NMD candidate; no known pathogenic variants |
Mutation functional classification
Loss of Function (LOF)
Not applicable; readthrough transcript is NMD candidate.
Gain of Function (GOF)
Not applicable.
Dominant Negative (DN)
Not applicable.
View complete mutation data：
Protein Summary
No protein product is expected from this readthrough transcript due to nonsense-mediated decay. The individual BCL2L2 and PABPN1 proteins are encoded by their respective parent genes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCL2L2-PABPN1 Knockout HEK293 Cell Line | EDJ-KQ52491 | Human | 100529063 | Details Get a Quote |
| BCL2L2-PABPN1 Knockout HeLa Cell Line | EDJ-KQ60954 | Human | 100529063 | Details Get a Quote |
| BCL2L2-PABPN1 Knockout A-549 Cell Line | EDJ-KQ69429 | Human | 100529063 | Details Get a Quote |
| BCL2L2-PABPN1 Knockout HCT 116 Cell Line | EDJ-KQ77780 | Human | 100529063 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
