Full name: LIF receptor subunit alpha

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CD118; LIF-R; SJS2; STWS; SWS

Summary: This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018]

Expression: Ubiquitous expression in fat (RPKM 34.2), endometrium (RPKM 21.9) and 24 other tissues

Gene size: 133736bp

Exon count: 26