TPTEP2-CSNK1E readthrough
A readthrough transcript between TPTEP2 and CSNK1E, encoding a fusion protein with potential regulatory roles in cell signaling and cancer.
Gene Information Card
| Symbol | TPTEP2-CSNK1E |
|---|---|
| Full Name | TPTEP2-CSNK1E readthrough (NMD candidate) |
| Gene Type | Readthrough transcript (protein-coding) |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 100506142 ncbi.nlm.nih.gov/gene/100506142 |
| Ensembl ID | ENSG00000267673 |
| UniProt ID | Not available (readthrough; components: Q9P0U3 for TPTEP2, P49674 for CSNK1E) |
| OMIM ID | Not available |
| HGNC ID | HGNC:40016 |
| Aliases | TPTEP2-CSNK1E readthrough, CSNK1E-TPTEP2 |
Description
TPTEP2-CSNK1E is a readthrough transcript located on chromosome 22q13.1, resulting from the natural fusion of the TPTEP2 pseudogene and the CSNK1E (casein kinase 1 epsilon) gene. This readthrough produces a transcript that is a candidate for nonsense-mediated decay (NMD), but may also encode a fusion protein. CSNK1E is a serine/threonine kinase involved in Wnt signaling, circadian rhythm, and cell cycle regulation. TPTEP2 is a processed pseudogene. The readthrough may modulate CSNK1E expression or function, with potential implications in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Readthrough may alter CSNK1E kinase activity, affecting Wnt/β-catenin and circadian pathways; overexpression of CSNK1E linked to tumorigenesis. | COSMIC; literature review |
| Circadian rhythm disorders | CSNK1E mutations cause familial advanced sleep phase syndrome; readthrough may impact splicing or expression. | OMIM #604348; ClinVar |
| Neurodevelopmental disorders | CSNK1E variants associated with autism and intellectual disability; readthrough may contribute to regulatory complexity. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | Not available | Not available |
| Testis | Not available | Not available |
| Breast | Not available | Not available |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not available | Readthrough transcript detected by RNA-seq |
| K562 | Not available | Readthrough transcript detected by RNA-seq |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Not available | Not available | Not available | Not available |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations reported for the readthrough; CSNK1E loss-of-function mutations are rare.
Gain of Function (GOF)
No specific gain-of-function mutations reported for the readthrough; CSNK1E gain-of-function mutations are associated with cancer.
Dominant Negative (DN)
No dominant-negative mutations reported for the readthrough.
View complete mutation data：
Protein Summary
The TPTEP2-CSNK1E readthrough transcript is predicted to encode a fusion protein combining the N-terminal region of TPTEP2 (pseudogene-derived) with the full-length CSNK1E kinase. The functional significance of this fusion is unclear, but it may affect CSNK1E stability, localization, or kinase activity. CSNK1E is a key regulator of Wnt signaling, circadian rhythm, and DNA damage response. The readthrough may represent a regulatory mechanism for CSNK1E expression in specific tissues or conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPTEP2-CSNK1E Knockout HEK293 Cell Line | EDJ-KQ1392 | Human | 102800317 | Details Get a Quote |
| TPTEP2-CSNK1E Knockout HeLa Cell Line | EDJ-KQ61007 | Human | 102800317 | Details Get a Quote |
| TPTEP2-CSNK1E Knockout A-549 Cell Line | EDJ-KQ69481 | Human | 102800317 | Details Get a Quote |
| TPTEP2-CSNK1E Knockout HCT 116 Cell Line | EDJ-KQ77834 | Human | 102800317 | Details Get a Quote |
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