Full name: insulin receptor

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CD220; HHF5

Summary: This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

Expression: Ubiquitous expression in kidney (RPKM 16.5), spleen (RPKM 15.9) and 25 other tissues

Gene size: 182150bp

Exon count: 22