Entrez Summary: Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016].
UniProt Summary: Plays a role in intracellular vesicle trafficking and exocytosis (PubMed:24843546). May play a role in maintaining insulin-containing dense core vesicles in pancreatic beta-cells and in preventing their degradation. May play a role in insulin secretion (PubMed:24843546). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) (By similarity). {ECO:0000250|UniProtKB:Q6P4T1, ECO:0000269|PubMed:24843546}.
Pfam DomainsGO Terms
Pfam Domains
PX
PXA
Nexin C
GO Terms
dense core granule maturation
secretory granule maturation
secretory granule organization
insulin secretion
phosphatidylinositol-3-phosphate binding
peptide hormone secretion
hormone secretion
hormone transport
chondrocyte differentiation
cytoplasmic vesicle membrane
early endosome membrane
protein secretion
establishment of protein localization to extracellular region
protein localization to extracellular region
signal release
cartilage development
peptide secretion
connective tissue development
developmental maturation
vesicle organization
endomembrane system organization
skeletal system development
regulation of hormone levels
exocytosis
secretion by cell
export from cell
cell-cell signaling
secretion
protein transport
peptide transport
amide transport
establishment of protein localization
tissue development
nitrogen compound transport
vesicle-mediated transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)