LIFR
Chr 5LIF receptor subunit alpha
Also known as: CD118, LIF-R, SJS2, STWS, SWS
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.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LIFR · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools