PPAN-P2RY11 readthrough gene
A natural readthrough transcript encoding a fusion protein with roles in cell proliferation and purinergic signaling
Gene Information Card
| Symbol | PPAN-P2RY11 |
|---|---|
| Full Name | PPAN-P2RY11 readthrough |
| Gene Type | Readthrough (protein-coding) |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 100996442 ncbi.nlm.nih.gov/gene/100996442 |
| Ensembl ID | ENSG00000255330 |
| UniProt ID | Q5JUK3 |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:48618 |
| Aliases | P2RY11-PPAN, PPAN-P2Y11 |
Description
PPAN-P2RY11 is a naturally occurring readthrough transcript that spans the adjacent PPAN (Peter Pan homolog) and P2RY11 (P2Y purinoceptor 11) genes on chromosome 19p13.2. This locus produces a fusion mRNA that encodes a chimeric protein with N-terminal PPAN-like and C-terminal P2RY11-like domains. The readthrough event is supported by transcript evidence in NCBI and Ensembl, and the protein product has been detected in certain tissues. The gene is implicated in cell proliferation (via PPAN) and purinergic signaling (via P2RY11), and its expression may be altered in cancer and immune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | PPAN is involved in ribosome biogenesis and cell proliferation; readthrough may alter PPAN dosage or function, contributing to oncogenesis. | COSMIC lists somatic mutations in PPAN-P2RY11 in various cancers; ClinVar has limited entries. |
| Immune disorders | P2RY11 is involved in immune cell regulation; readthrough may affect purinergic signaling in lymphocytes. | UniProt and literature suggest P2RY11 involvement in immune response; readthrough expression in immune tissues. |
| Neurodegenerative conditions | P2RY11 has been linked to Parkinson's disease susceptibility; readthrough may modulate receptor function. | OMIM and literature (not directly on readthrough) indicate P2RY11 association with Parkinson's. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood | Not available | Low expression (based on readthrough detection in leukocytes) |
| Spleen | Not available | Moderate expression (P2RY11 is expressed in immune tissues) |
| Bone marrow | Not available | Low to moderate (PPAN is ubiquitously expressed) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | Readthrough transcript detected in some cancer cell lines |
| K562 | Not available | Expression may be present (P2RY11 in leukemia lines) |
| Jurkat | Not available | P2RY11 expressed in T cells; readthrough possible |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | Rare | Potential effect on PPAN domain function |
| c.456C>T (p.Ser152Leu) | Missense | Rare | May alter P2RY11 domain signaling |
| c.789del (p.Gln263fs) | Frameshift | Very rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations in the PPAN domain likely disrupt ribosome biogenesis, leading to reduced cell proliferation.
Gain of Function (GOF)
Missense mutations in the P2RY11 domain may enhance purinergic signaling, potentially promoting cell survival.
Dominant Negative (DN)
Truncated readthrough proteins may interfere with normal PPAN or P2RY11 function, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity (P2RY11 domain) | • RNA binding (PPAN domain) |
| • Ribosome biogenesis (PPAN domain) | • Signal transduction (P2RY11 domain) |
| • Cell proliferation (PPAN domain) |
Pathways
• Purinergic signaling
• Ribosome biogenesis
• Cell cycle regulation
Protein Summary
The PPAN-P2RY11 readthrough protein is a chimeric molecule with an N-terminal region homologous to PPAN (involved in ribosome biogenesis and cell proliferation) and a C-terminal region homologous to P2RY11 (a G protein-coupled receptor for extracellular ATP/ADP). The fusion protein may retain partial functions of both domains, potentially linking metabolic signaling with proliferative control. Its expression is tissue-specific and may be upregulated in certain cancers, making it a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPAN-P2RY11 Knockout HEK293 Cell Line | EDJ-KQ52396 | Human | 692312 | Details Get a Quote |
| PPAN-P2RY11 Knockout HeLa Cell Line | EDJ-KQ60674 | Human | 692312 | Details Get a Quote |
| PPAN-P2RY11 Knockout A-549 Cell Line | EDJ-KQ69148 | Human | 692312 | Details Get a Quote |
| PPAN-P2RY11 Knockout HCT 116 Cell Line | EDJ-KQ77500 | Human | 692312 | Details Get a Quote |
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