PPY Gene - Pancreatic Polypeptide
Comprehensive genomic and proteomic analysis of the PPY gene encoding pancreatic polypeptide, a key regulator of pancreatic exocrine and endocrine function.
Gene Information Card
| Symbol | PPY |
|---|---|
| Full Name | Pancreatic Polypeptide |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 5539 ncbi.nlm.nih.gov/gene/5539 |
| Ensembl ID | ENSG00000108849 |
| UniProt ID | P01298 |
| OMIM ID | 167780 |
| HGNC ID | 9327 |
| Aliases | PP, PNP, pancreatic polypeptide |
Description
The PPY gene encodes pancreatic polypeptide (PP), a 36-amino acid hormone primarily produced by PP cells (gamma cells) in the pancreatic islets. PP is involved in the regulation of pancreatic exocrine and endocrine secretion, appetite, and gastrointestinal motility. It is released in response to food intake and acts via the neuropeptide Y receptors (NPY1R, NPY4R, NPY5R). Dysregulation of PPY expression has been implicated in pancreatic neuroendocrine tumors, diabetes, and obesity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic Neuroendocrine Tumor (PNET) | Overexpression of PPY in PP-omas leads to elevated circulating pancreatic polypeptide, used as a biomarker. | PMID: 25651787; COSMIC |
| Type 2 Diabetes | Altered PPY expression and PP secretion are associated with impaired glucose homeostasis and beta-cell dysfunction. | PMID: 29127280; ClinVar |
| Obesity | Reduced postprandial PP secretion is linked to increased appetite and weight gain. | PMID: 20009012 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 1245.2 | High |
| Stomach | 12.3 | Low |
| Duodenum | 8.7 | Low |
| Colon | 2.1 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 | 0.2 | Low expression in pancreatic ductal adenocarcinoma cell line |
| BxPC-3 | 0.1 | Not detected |
| AsPC-1 | 0.1 | Not detected |
| MIA PaCa-2 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.79C>T (p.Arg27Trp) | Missense | <0.01% | Unknown effect; rare variant |
| c.214G>A (p.Gly72Ser) | Missense | <0.01% | Unknown effect; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in PPY are rare and may impair PP secretion or receptor binding, potentially contributing to metabolic dysregulation.
Gain of Function (GOF)
Gain-of-function mutations have not been characterized; overexpression in PP-omas is due to tumorigenesis rather than activating mutations.
Dominant Negative (DN)
No dominant-negative mutations have been reported for PPY.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neuropeptide Y receptor pathway (Reactome: R-HSA-388396)
• GPCR ligand binding (Reactome: R-HSA-500792)
• Regulation of insulin secretion (KEGG: hsa04911)
Protein Summary
Pancreatic polypeptide (PP) is a 36-amino acid peptide hormone (UniProt P01298) produced by PP cells in the pancreatic islets. It is stored in secretory granules and released postprandially. PP acts through G-protein-coupled receptors (NPY1R, NPY4R, NPY5R) to inhibit pancreatic exocrine secretion, modulate gastric emptying, and reduce appetite. The mature peptide is amidated at the C-terminus, which is essential for receptor binding. Elevated PP levels are a clinical biomarker for pancreatic neuroendocrine tumors (PP-omas).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPY Knockout HEK293 Cell Line | EDJ-KQ5520 | Human | 5539 | Details Get a Quote |
| PPY Knockout HeLa Cell Line | EDJ-KQ54197 | Human | 5539 | Details Get a Quote |
| PPY Knockout A-549 Cell Line | EDJ-KQ62692 | Human | 5539 | Details Get a Quote |
| PPY Knockout HCT 116 Cell Line | EDJ-KQ71162 | Human | 5539 | Details Get a Quote |
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