IAPP (Islet Amyloid Polypeptide)
Key regulator of glucose metabolism and amyloid formation in type 2 diabetes
Gene Information Card
| Symbol | IAPP |
|---|---|
| Full Name | Islet Amyloid Polypeptide |
| Gene Type | protein-coding |
| Chromosomal Location | 12p12.1 |
| NCBI Gene ID | 3375 ncbi.nlm.nih.gov/gene/3375 |
| Ensembl ID | ENSG00000169067 |
| UniProt ID | P10997 |
| OMIM ID | 147940 |
| HGNC ID | 5329 |
| Aliases | DAP, IAP, islet amyloid polypeptide, amylin |
Description
The IAPP gene encodes islet amyloid polypeptide (also known as amylin), a 37-amino acid peptide hormone co-secreted with insulin from pancreatic beta cells. IAPP regulates glucose homeostasis by slowing gastric emptying, suppressing glucagon secretion, and promoting satiety. Misfolding and aggregation of IAPP into amyloid fibrils contribute to beta-cell dysfunction and death in type 2 diabetes mellitus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes Mellitus | IAPP misfolding and amyloid deposition in pancreatic islets lead to beta-cell apoptosis and insulin deficiency. | ClinVar, OMIM |
| Islet Amyloidosis | Aggregation of IAPP into amyloid fibrils disrupts islet architecture and impairs beta-cell function. | NCBI Gene, OMIM |
| Diabetes Mellitus, Non-Insulin-Dependent | Genetic variants in IAPP may influence susceptibility to type 2 diabetes. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 127.9 | High |
| Stomach | 0.8 | Low |
| Lung | 0.3 | Not detected |
| Brain | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| INS-1 (rat beta-cell line) | High | Model for IAPP expression and amyloid studies |
| HEK293 | Low | Used for recombinant IAPP production |
| MIN6 (mouse beta-cell line) | High | Endogenous IAPP expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| S20G | Missense | Rare | Increased amyloidogenicity; associated with early-onset type 2 diabetes in Asian populations |
| A25T | Missense | Rare | Reduced amyloid formation; protective effect |
| G33S | Missense | Rare | Altered peptide stability; clinical significance uncertain |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; most mutations affect amyloid propensity rather than loss of normal function.
Gain of Function (GOF)
S20G mutation increases amyloid formation, leading to toxic gain-of-function via aggregation.
Dominant Negative (DN)
No dominant-negative mutations reported for IAPP.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Regulation of insulin secretion (Reactome: R-HSA-422356)
• Glucose homeostasis (KEGG: hsa04930
• Type II diabetes mellitus)
Protein Summary
Islet amyloid polypeptide (IAPP, amylin) is a 37-amino acid peptide hormone produced by pancreatic beta cells. It is co-secreted with insulin and acts centrally and peripherally to regulate glucose metabolism. IAPP is synthesized as a 89-residue preproprotein that undergoes proteolytic processing to yield the mature hormone. Under pathological conditions, IAPP misfolds into beta-sheet-rich amyloid fibrils that deposit in the islets of Langerhans, a hallmark of type 2 diabetes. The S20G missense mutation increases amyloidogenicity and is associated with early-onset diabetes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IAPP Knockout HEK293 Cell Line | EDJ-KQ50375 | Human | 3375 | Details Get a Quote |
| IAPP Knockout HeLa Cell Line | EDJ-KQ53600 | Human | 3375 | Details Get a Quote |
| IAPP Knockout A-549 Cell Line | EDJ-KQ62067 | Human | 3375 | Details Get a Quote |
| IAPP Knockout HCT 116 Cell Line | EDJ-KQ70550 | Human | 3375 | Details Get a Quote |
