LIFR

Chr 5AR

LIF receptor subunit alpha

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

NCBI Gene: 3977 ENSG00000113594 UniProt: P42702 OMIM: 151443

This protein functions as a signal-transducing cytokine receptor that combines with gp130 to mediate leukemia inhibitory factor signaling, which regulates cellular differentiation, proliferation and survival during development. Biallelic mutations cause Stuve-Wiedemann syndrome (also called Schwartz-Jampel type 2 syndrome), an autosomal recessive bent-bone dysplasia with skeletal abnormalities and other developmental features. The gene is highly intolerant to loss-of-function variants in the population (pLI near 1.0), consistent with its essential developmental role.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromeMIM #601559

Clinical highlights

Gene-disease validity (ClinGen)

obsolete Stüve-Wiedemann syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

109

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.71

LOEUF

LOF

Mechanism· G2P

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