LIFR

Chr 5p13.1

LIF receptor subunit alpha

Aliases:: CD118
MANE:: ENST00000453190.7

OMIM: 151443 ↗NCBI: 3977 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

LIFR · P42702

v62025-08-01

Predicted Aligned Error matrix for LIFR — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.8/ 100

Confident

1,097 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)31%
Low(50–70)7%
Very low(< 50)25%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

CAKUT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta

Disease associations (Open Targets)

Stüve-Wiedemann syndrome 1
0.78
Stuve-Wiedemann syndrome
0.66
congenital anomaly of kidney and urinary tract
0.49
osteoarthritis, knee
0.38
Salivary Gland Pleomorphic Adenoma
0.37
salivary gland adenoid cystic carcinoma
0.37
arthropathy
0.32
Bicuspid aortic valve
0.32
venous thromboembolism
0.31
medical procedure
0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Leukemia inhibitory factor receptor

Functions as a membrane-bound signal-transducing subunit either in complex with IL6ST/gp130 or as part of the ciliary neurotrophic factor receptor (CNTFR) complex composed by CNTFR, IL6ST/gp130 and LIFR (PubMed:11285233, PubMed:11294841, PubMed:1542794, PubMed:39532904, PubMed:9030543, PubMed:9188471). Signal transmission is initiated either by binding directly to cytokines, such as OSM or LIF or CTF1, or through the binding of other cytokines, like CNTF, CLCF1 or the heterodimeric complex CRLF1-CLCF1 to the non-signaling receptor CNTFR; ligand binding induces heterodimerization of IL6ST/gp130 and LIFR which activates JAK tyrosine kinases bound to their intracellular domains (PubMed:11285233, PubMed:11294841, PubMed:1542794, PubMed:1915266, PubMed:9030543, PubMed:9188471). These kinases subsequently phosphorylate the homodimer or heterodimer form of IL6ST/gp130 (PubMed:11285233, PubMed:11294841, PubMed:9030543). The tyrosine phosphorylated signaling receptors serve in turn as docking sites for recruitment and activation of signal transducer and activators of transcription (STATs) (PubMed:11285233, PubMed:11294841, PubMed:9030543, PubMed:9188471). Engages sites 3 of ligands cytokines (PubMed:36930708)