LIFR

Summary

LIFR (LIF receptor subunit alpha, HGNC:6597) is a protein-coding gene on chromosome 5p13.1, encoding Leukemia inhibitory factor receptor (P42702). Signal-transducing molecule.

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.

Source: NCBI Gene 3977 — RefSeq curated summary.

At a glance

• Gene–disease (curated): obsolete Stüve-Wiedemann syndrome (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 5
• Clinical variants (ClinVar): 1,419 total — 80 pathogenic, 75 likely-pathogenic
• Phenotypes (HPO): 112
• Druggable target: yes
• Cancer driver (intOGen): activating (oncogene-like) across 2 cancer types
• MANE Select transcript: NM_001127671

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6597
Approved symbol	LIFR
Name	LIF receptor subunit alpha
Location	5p13.1
Locus type	gene with protein product
Status	Approved
Aliases	CD118
Ensembl gene	ENSG00000113594
Ensembl biotype	protein_coding
OMIM	151443
Entrez	3977

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 10 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000263409, ENST00000453190, ENST00000503088, ENST00000506003, ENST00000506990, ENST00000507786, ENST00000508477, ENST00000511561, ENST00000512723, ENST00000872130, ENST00000872131, ENST00000929709, ENST00000952491, ENST00000952492, ENST00000952493

RefSeq mRNA: 4 — MANE Select: NM_001127671 NM_001127671, NM_001364297, NM_001364298, NM_002310

CCDS: CCDS3927

Canonical transcript exons

ENST00000453190 — 20 exons

Exon	Start	End
ENSE00001083472	38482589	38482667
ENSE00001083480	38484775	38484868
ENSE00001136022	38485819	38485980
ENSE00001746112	38556334	38556646
ENSE00002061828	38474668	38482218
ENSE00003480824	38528726	38528840
ENSE00003499589	38496382	38496595
ENSE00003508527	38499513	38499583
ENSE00003510067	38530506	38530666
ENSE00003533535	38502637	38502799
ENSE00003539783	38489078	38489245
ENSE00003546846	38511790	38511964
ENSE00003555331	38527155	38527294
ENSE00003555640	38493606	38493785
ENSE00003556974	38503976	38504121
ENSE00003585515	38506503	38506632
ENSE00003591407	38490190	38490291
ENSE00003664493	38510464	38510718
ENSE00003677280	38505905	38506074
ENSE00003685881	38523419	38523582

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 98.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.6302 / max 478.0573, expressed in 1293 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61353	14.1193	1280
61352	1.0666	349
61358	0.8877	145
61355	0.3717	111
61356	0.1186	61
61357	0.0500	22
61354	0.0163	6

Top tissues by expression

296 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	98.61	gold quality
globus pallidus	UBERON:0001875	98.59	gold quality
lateral globus pallidus	UBERON:0002476	98.49	gold quality
tibia	UBERON:0000979	98.07	gold quality
calcaneal tendon	UBERON:0003701	97.99	gold quality
subthalamic nucleus	UBERON:0001906	97.49	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.38	gold quality
substantia nigra pars compacta	UBERON:0001965	97.36	gold quality
pons	UBERON:0000988	97.28	gold quality
cardia of stomach	UBERON:0001162	97.22	gold quality
skin of hip	UBERON:0001554	96.76	gold quality
ventricular zone	UBERON:0003053	96.73	gold quality
lower lobe of lung	UBERON:0008949	96.73	gold quality
superficial temporal artery	UBERON:0001614	96.49	gold quality
inferior vagus X ganglion	UBERON:0005363	96.48	gold quality
corpus callosum	UBERON:0002336	96.37	gold quality
superior vestibular nucleus	UBERON:0007227	96.32	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.29	gold quality
ventral tegmental area	UBERON:0002691	96.01	gold quality
seminal vesicle	UBERON:0000998	95.52	gold quality
upper leg skin	UBERON:0004262	95.51	gold quality
parietal pleura	UBERON:0002400	95.50	gold quality
trigeminal ganglion	UBERON:0001675	95.15	gold quality
parotid gland	UBERON:0001831	95.00	gold quality
dorsal root ganglion	UBERON:0000044	94.93	gold quality
germinal epithelium of ovary	UBERON:0001304	94.67	gold quality
synovial joint	UBERON:0002217	94.62	gold quality
urethra	UBERON:0000057	94.58	gold quality
mammary duct	UBERON:0001765	94.49	gold quality
renal medulla	UBERON:0000362	94.48	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-HCAD-9	yes	1383.35
E-MTAB-10553	yes	740.01
E-MTAB-7249	yes	454.49
E-MTAB-10287	yes	85.69
E-GEOD-135922	yes	44.03
E-CURD-46	yes	29.39
E-CURD-112	yes	14.88
E-MTAB-10137	no	8.08
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, HIF1A, RUNX1

miRNA regulators (miRDB)

283 targeting LIFR, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-513B-5P	99.99	69.96	2150

Literature-anchored findings (GeneRIF, showing 40)

• Review. The structure and function of the LIF-R gene and protein, mRNA processing, and its role in tumor cells are reviewed. (PMID:11042511)
• upper cytokine-binding module and the Ig-like domain of the leukaemia inhibitory factor (LIF) receptor are sufficient for a functional LIF receptor complex (PMID:11812136)
• Separate functions for the two modules of the membrane-proximal cytokine binding domain of glycoprotein 190, the leukemia inhibitory factor low affinity receptor, in ligand binding and receptor activation (gp190) (PMID:11834739)
• interactions of CNTFR with LIFR and gp130 in vitro (PMID:12707266)
• Leukemia inhibitory factor (LIF), cardiotrophin-1, and oncostatin M share structural binding determinants in the immunoglobulin-like domain of LIF receptor (PMID:12707269)
• mutations alter the stability of LIFR messenger RNA transcripts, resulting in the absence of the LIFR protein and in the impairment of the JAK/STAT3 signaling pathway in patient cells (PMID:14740318)
• immunocytochemical staining and mRNA expression of LIF and its receptor are consistent with the concept that LIF might be involved in growth initiation of human primordial follicles through its receptor (PMID:15044601)
• At early human post-implantation stage, LIF is produced from decidua and chorionic villi and may exert its action on trophoblasts. Anembryonic pregnancy cannot be accounted for by defective expression of either LIF or LIF-Rbeta in most circumstances. (PMID:15180980)
• In cells overexpressing a LIFR mutant with the N-terminal cytokine binding domain deleted, signaling by ciliary neurotrophic factor was abolished. (PMID:16051226)
• Down-regulation of PRB in the endometrium is concomitant with the presence of glycodelin in the endometrium, suggesting interaction. (PMID:16759928)
• Expression of leukemia inhibitory factor and its receptor is low in undifferentiated human embryonic stem cells but increases during differentiation. (PMID:16949591)
• sOSMR is able to bind OSM and interleukin-31 when associated to soluble gp130 or soluble interleukin-31R, respectively, and to neutralize both cytokine properties (PMID:17028186)
• The regulation of LIF and its receptor (LIFR) expression in pancreatic carcinoma cells were studied. (PMID:17332938)
• Results present the biophysical and structural characterization of the full-length, transmembrane form of a quaternary cytokine receptor complex consisting of gp130, LIF-R, Ciliary Neurotrophic Factor (CNTF), and its alpha receptor (CNTF-Ralpha). (PMID:18775332)
• Down regulation of Leukemia inhibitory factor receptor is associated with hepatocellular carcinoma. (PMID:19733004)
• The present study indicated that the LIF gene variant may produce susceptibility to hebephrenic schizophrenia and deterioration of working memory function. (PMID:19879916)
• These results demonstrate that cancer-specific methylation and a specific decrease of LIFR expression are a common inactivation event in colon cancer development. (PMID:21617854)
• LIF and LIFR immunolocalized to decidual cells in the mid-late secretory phase endometrium and 1st trimester decidua. (PMID:21966484)
• A significant association was detected between the LIFR gene polymorphisms and schizophrenia patients with persecutory delusion (PMID:21971603)
• findings show that LIFR is a key novel tumor suppressor, whose deregulation may drive the transformation of a significant proportion of human breast cancers (PMID:22535017)
• A unique loop structure in oncostatin M determines binding affinity toward oncostatin M receptor and leukemia inhibitory factor receptor. (PMID:22829597)
• findings identify LIFR as a metastasis suppressor that functions through the Hippo-YAP pathway and has significant prognostic power. (PMID:23001183)
• Because acute ventricle enlargement is observed in susceptible CD118-deficient mice, the phenomenon may occur in a subpopulation of human adults with herpes simplex encephalitis. (PMID:23382563)
• LIFR rs3729740 and possibly ANXA11 rs1049550 may be useful as biomarkers for predicting whether metastatic colorectal cancer patients are sensitive to relevant target regimens, although further validation in large cohorts is needed. (PMID:23579219)
• Data suggest LIF/LIF receptor (alpha subunit) signal transduction facilitates blastocyst implantation or development of tubal pregnancy by stimulating blastocyst adhesion and outgrowth/proliferation of placenta or Fallopian tube epithelial cells. (PMID:24074901)
• LIFR signaling usually follows the JAK/STAT3 pathway, and is initiated by several interleukin-6-type cytokines (PMID:24618404)
• R28E mutation in CNTF abrogatesIL-6 receptor-dependent but retains CNTF receptor-dependent signaling via glycoprotein 130/ LIFR. (PMID:24802752)
• The LIFRalpha-CT3 TAT fusion protein can inhibit miR-155 expression (PMID:25092123)
• Stuve-Wiedemann syndrome patients with (p.Arg692X) LIFR mutation may develop central adrenal insufficiency due to impaired LIF/LIFR signalling. LIF/LIFR system plays a role in human HPA axis regulation. (PMID:25145448)
• Expression of the LIF receptor was strongly increased on immune cells of multiple sclerosis patients. (PMID:25514345)
• LIFR may play a functional role in hepatocarcinogenesis (PMID:25749520)
• Studied the association of tubal pregnancy with leukemia inhibitory factor (LIF) and leukemia inhibitory factor receptor (LIFR) expression in oviduct tissues. (PMID:25790555)
• We report the case of a girl with Stuve-Wiedemann syndrome confirmed on molecular analysis. (PMID:25868946)
• The Leukemia Inhibitory Factor Receptor Gene Is a Direct Target of RUNX1 (PMID:26060100)
• these findings conclude that LIFR functions as a novel metastasis suppressor in Hepatocellular carcinoma and may serve as a prognostic biomarker for Hepatocellular carcinoma patients. (PMID:26249360)
• The C65S mutant LIFR showed altered glycosylation and an elevated expression level that might be attributed to a slow turnover of the mutant form. (PMID:26285796)
• High LIFr expression stimulates melanoma cell migration and is associated with unfavorable prognosis in melanoma. (PMID:26329521)
• LncRNA-LOWEG is a tumor suppressor that inhibits Gastric cancer cell invasion. And LIFR gene is up-regulated by lncRNA-LOWEG. (PMID:26537802)
• Endometrial expression of LIF and LIFR is significantly reduced in the epithelial cells of infertile women. (PMID:27082016)
• LIFR inhibited the expression of beta-catenin. (PMID:27375070)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	osmr	ENSDARG00000100738
mus_musculus	Lifr	ENSMUSG00000054263
rattus_norvegicus	Lifr	ENSRNOG00000011696

Paralogs (23): CRLF1 (ENSG00000006016), IL12RB2 (ENSG00000081985), IL5RA (ENSG00000091181), IL12RB1 (ENSG00000096996), IL27RA (ENSG00000104998), EBI3 (ENSG00000105246), GHR (ENSG00000112964), PRLR (ENSG00000113494), LEPR (ENSG00000116678), CSF3R (ENSG00000119535), CNTFR (ENSG00000122756), IL13RA2 (ENSG00000123496), IL13RA1 (ENSG00000131724), IL6ST (ENSG00000134352), IL11RA (ENSG00000137070), OSMR (ENSG00000145623), IL2RG (ENSG00000147168), IL6R (ENSG00000160712), IL23R (ENSG00000162594), IL31RA (ENSG00000164509), IL3RA (ENSG00000185291), CSF2RA (ENSG00000198223), CRLF2 (ENSG00000205755)

Protein

Protein identifiers

Leukemia inhibitory factor receptor — P42702 (reviewed: P42702)

All UniProt accessions (4): D6RF33, D6RJ94, P42702, H0YAF2

UniProt curated annotations — full annotation on UniProt →

Function. Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells.

Subunit / interactions. Heterodimer composed of LIFR and IL6ST. The heterodimer formed by LIFR and IL6ST interacts with the complex formed by CNTF and CNTFR.

Subcellular location. Cell membrane Secreted.

Disease relevance. Stuve-Wiedemann syndrome 1 (STWS1) [MIM:601559] A form of Stuve-Wiedemann syndrome, an autosomal recessive disease characterized by bowing of tubular bones and other skeletal and craniofacial abnormalities, respiratory distress, feeding difficulties, and hyperthermic episodes. Most patients do not survive past infancy. The disease is caused by variants affecting the gene represented in this entry. A chromosomal aberration involving LIFR is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(5;8)(p13;q12) with PLAG1.

Domain organisation. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding. The box 1 motif is required for JAK interaction and/or activation.

Similarity. Belongs to the type I cytokine receptor family. Type 2 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
P42702-1	1, Membrane	yes
P42702-2	2, Secreted

RefSeq proteins (4): NP_001121143, NP_001351226, NP_001351227, NP_002301 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003529	Hematopoietin_rcpt_Gp130_CS	Conserved_site
IPR003961	FN3_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR040817	LIFR_D2	Domain
IPR040901	LIFR_N	Domain
IPR048497	LIF-R-like_Ig-like	Domain
IPR050379	Type-I_Cytokine_Rcpt	Family

Pfam: PF00041, PF17971, PF18207, PF21177, PF25552

UniProt features (98 total): strand 43, glycosylation site 19, sequence variant 7, domain 6, disulfide bond 5, helix 4, region of interest 2, short sequence motif 2, modified residue 2, topological domain 2, turn 2, signal peptide 1, chain 1, compositionally biased region 1, transmembrane region 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
8D74	ELECTRON MICROSCOPY	3.03
3E0G	X-RAY DIFFRACTION	3.1
8D6A	ELECTRON MICROSCOPY	3.54
8V2A	ELECTRON MICROSCOPY	3.59
8D7R	ELECTRON MICROSCOPY	3.9
8V29	ELECTRON MICROSCOPY	3.99

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P42702-F1	74.10	0.38

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 927, 1044

Disulfide bonds (5): 55–65, 82–90, 213–270, 341–351, 466–511

Glycosylation sites (19): 64, 85, 131, 143, 191, 243, 303, 390, 407, 426, 445, 481, 489, 572, 652, 663, 680, 729, 787

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-6788467	IL-6-type cytokine receptor ligand interactions
R-HSA-8939247	RUNX1 regulates transcription of genes involved in interleukin signaling
R-HSA-1280215	Cytokine Signaling in Immune system
R-HSA-168256	Immune System
R-HSA-212436	Generic Transcription Pathway
R-HSA-449147	Signaling by Interleukins
R-HSA-6783589	Interleukin-6 family signaling
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8878171	Transcriptional regulation by RUNX1

MSigDB gene sets: 553 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_UP, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, HOFMANN_CELL_LYMPHOMA_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GOCC_CELL_SURFACE, RACCACAR_AML_Q6, TGACCTY_ERR1_Q2, BOYLAN_MULTIPLE_MYELOMA_D_DN, ATGTTAA_MIR302C, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, TCF4_Q5

GO Biological Process (7): cell surface receptor signaling pathway (GO:0007166), positive regulation of cell population proliferation (GO:0008284), cytokine-mediated signaling pathway (GO:0019221), response to cytokine (GO:0034097), oncostatin-M-mediated signaling pathway (GO:0038165), leukemia inhibitory factor signaling pathway (GO:0048861), ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)

GO Molecular Function (8): cytokine receptor activity (GO:0004896), leukemia inhibitory factor receptor activity (GO:0004923), ciliary neurotrophic factor receptor binding (GO:0005127), growth factor binding (GO:0019838), cytokine binding (GO:0019955), ciliary neurotrophic factor receptor activity (GO:0004897), oncostatin-M receptor activity (GO:0004924), protein binding (GO:0005515)

GO Cellular Component (6): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), signaling receptor complex (GO:0043235), extracellular exosome (GO:0070062), extracellular region (GO:0005576), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Interleukin-6 family signaling	1
Transcriptional regulation by RUNX1	1
Immune System	1
RNA Polymerase II Transcription	1
Cytokine Signaling in Immune system	1
Signaling by Interleukins	1
Gene expression (Transcription)	1
Generic Transcription Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytokine-mediated signaling pathway	3
protein binding	2
cytokine receptor activity	2
cellular anatomical structure	2
signal transduction	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
cell surface receptor signaling pathway	1
cellular response to cytokine stimulus	1
response to peptide	1
enzyme-linked receptor protein signaling pathway	1
transmembrane signaling receptor activity	1
cytokine binding	1
immune receptor activity	1
ciliary neurotrophic factor receptor activity	1
leukemia inhibitory factor signaling pathway	1
cytokine receptor binding	1
ciliary neurotrophic factor binding	1
ciliary neurotrophic factor-mediated signaling pathway	1
oncostatin-M-mediated signaling pathway	1
binding	1
membrane	1
cell periphery	1
plasma membrane	1
cell surface	1
side of membrane	1
protein-containing complex	1
extracellular vesicle	1

Protein interactions and networks

STRING

2025 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LIFR	LIF	P15018	999
LIFR	OSM	P13725	997
LIFR	CNTF	P26441	997
LIFR	CNTFR	P26992	996
LIFR	CTF1	Q16619	968
LIFR	IL6ST	P40189	960
LIFR	STAT3	P40763	940
LIFR	IL6	P05231	879
LIFR	IL11	P20809	834
LIFR	CLCF1	Q9UBD9	831
LIFR	OSMR	Q99650	813
LIFR	JAK2	O60674	813
LIFR	JAK1	P23458	795
LIFR	TYK2	P29597	790
LIFR	PTPN11	Q06124	717

IntAct

55 interactions, top by confidence:

A	B	Type	Score
LIFR	CNTF	psi-mi:“MI:0407”(direct interaction)	0.810
CNTF	CNTFR	psi-mi:“MI:0915”(physical association)	0.810
IL6ST	LIF	psi-mi:“MI:0915”(physical association)	0.740
SCGB1D1	FAM234B	psi-mi:“MI:0914”(association)	0.530
DEFA1	MANBA	psi-mi:“MI:0914”(association)	0.530
TAFA4	NRP1	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
SORT1	LIFR	psi-mi:“MI:0407”(direct interaction)	0.510
SORT1	LIFR	psi-mi:“MI:2364”(proximity)	0.510
CLCF1	CNTFR	psi-mi:“MI:0915”(physical association)	0.490
LIF	LIFR	psi-mi:“MI:0407”(direct interaction)	0.440
LIFR	OSM	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (56): LIFR (Affinity Capture-MS), LIFR (Affinity Capture-MS), LIFR (Affinity Capture-MS), LIFR (Affinity Capture-MS), LIFR (Affinity Capture-MS), LIFR (Affinity Capture-MS), LIFR (Affinity Capture-MS), LIFR (Affinity Capture-MS), LIFR (Affinity Capture-RNA), LIFR (Affinity Capture-RNA), CNTFR (Reconstituted Complex), LIFR (Affinity Capture-Western), LIF (Reconstituted Complex), LIFR (Affinity Capture-MS), LIFR (Affinity Capture-MS)

ESM2 similar proteins: A2AED3, B0CLX4, B2RU80, B3DK56, B3EX02, E2RK30, F1NWE3, O14522, O70458, O70535, O88488, P08922, P08941, P08F94, P0C5E4, P17948, P20352, P23467, P28827, P28828, P35822, P35969, P35992, P42702, P42703, P53767, P97378, Q15262, Q2EY13, Q2EY15, Q2VWP7, Q2VWP9, Q589G5, Q5RFR6, Q5VJ70, Q5VTL7, Q5XNR9, Q62959, Q63132, Q65Z14

Diamond homologs: O70458, P42702, P42703, Q5XNR9, Q65Z14, Q99650, O70535, P97603, P97798, Q92859, A4IGL7, D3YXG0, D3YYU8, F1M0Z1, G5EF96, O15146, O42422, O73878, O75962, P0C6S8, P22607, P43146, P55144, P70211, Q01973, Q0KL02, Q1LUA6, Q3UQ28, Q5DTJ9, Q5RDJ4, Q5VST9, Q61006, Q62838, Q63155, Q63495, Q6GQU6, Q6MZW2, Q6NUX0, Q6PJG9, Q78DX7

SIGNOR signaling

13 interactions.

A	Effect	B	Mechanism
CTF1	up-regulates	LIFR	binding
LIF	up-regulates	LIFR	binding
OSM	up-regulates	LIFR	binding
LIFR	up-regulates	IL6ST	binding
Gbeta	down-regulates	LIFR	phosphorylation
ERK1/2	down-regulates	LIFR	phosphorylation
FAM3C	“up-regulates activity”	LIFR	binding
mifepristone	“down-regulates activity”	LIFR	“chemical modification”
MAPK1	down-regulates	LIFR	phosphorylation
MAPK3	down-regulates	LIFR	phosphorylation
CNTF	up-regulates	LIFR	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 56 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
IL-6-type cytokine receptor ligand interactions	6	105.7×	2e-09

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of neuron apoptotic process	5	11.3×	7e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 2 cancer types — MEL, SCLC.

Clinical variants and AI predictions

ClinVar

1419 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	80
Likely pathogenic	75
Uncertain significance	507
Likely benign	579
Benign	84

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1071656	NM_001127671.2(LIFR):c.2326_2327dup (p.Leu776fs)	Pathogenic
1072156	NM_001127671.2(LIFR):c.2053_2054del (p.Val685fs)	Pathogenic
1072323	NM_001127671.2(LIFR):c.1418del (p.Ser473fs)	Pathogenic
1072672	NM_001127671.2(LIFR):c.1626dup (p.Arg543fs)	Pathogenic
1074532	NM_001127671.2(LIFR):c.1290del (p.Val431fs)	Pathogenic
1075195	NM_001127671.2(LIFR):c.2036C>G (p.Ser679Ter)	Pathogenic
1358242	NM_001127671.2(LIFR):c.1471del (p.Ser491fs)	Pathogenic
1372780	NM_001127671.2(LIFR):c.325G>T (p.Glu109Ter)	Pathogenic
1381166	NM_001127671.2(LIFR):c.23T>A (p.Leu8Ter)	Pathogenic
1392758	NM_001127671.2(LIFR):c.1622del (p.Thr541fs)	Pathogenic
1408819	NM_001127671.2(LIFR):c.2099dup (p.Leu701fs)	Pathogenic
14460	NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter)	Pathogenic
14461	NM_001127671.2(LIFR):c.2013dup (p.Met672fs)	Pathogenic
1451647	NM_001127671.2(LIFR):c.1687G>T (p.Glu563Ter)	Pathogenic
1454788	NM_001127671.2(LIFR):c.173_176del (p.Asn58fs)	Pathogenic
1455438	NM_001127671.2(LIFR):c.1983G>A (p.Trp661Ter)	Pathogenic
1456932	NM_001127671.2(LIFR):c.1781_1782dup (p.Glu595fs)	Pathogenic
1459382	NM_001127671.2(LIFR):c.1475_1482del (p.Tyr492fs)	Pathogenic
1935371	NM_001127671.2(LIFR):c.1646del (p.Gly549fs)	Pathogenic
1948071	NM_001127671.2(LIFR):c.883dup (p.Glu295fs)	Pathogenic
1952160	NM_001127671.2(LIFR):c.1302del (p.His434fs)	Pathogenic
2031867	NM_001127671.2(LIFR):c.2119dup (p.Gln707fs)	Pathogenic
2034342	NM_001127671.2(LIFR):c.1994dup (p.Arg666fs)	Pathogenic
2034928	NM_001127671.2(LIFR):c.1947C>G (p.Tyr649Ter)	Pathogenic
2064642	NM_001127671.2(LIFR):c.1903C>T (p.Gln635Ter)	Pathogenic
2092511	NM_001127671.2(LIFR):c.1507dup (p.Thr503fs)	Pathogenic
2099347	NM_001127671.2(LIFR):c.704G>A (p.Trp235Ter)	Pathogenic
2106354	NM_001127671.2(LIFR):c.1510_1513del (p.Leu504fs)	Pathogenic
2107273	NM_001127671.2(LIFR):c.2010C>A (p.Cys670Ter)	Pathogenic
2107623	NM_001127671.2(LIFR):c.542del (p.Ser181fs)	Pathogenic

SpliceAI

3763 predictions. Top by Δscore:

Variant	Effect	Δscore
5:38482583:GATTA:G	donor_loss	1.0000
5:38482586:TA:T	donor_loss	1.0000
5:38482588:C:CA	donor_loss	1.0000
5:38482665:ATCC:A	acceptor_loss	1.0000
5:38482667:CCT:C	acceptor_loss	1.0000
5:38482667:CCTT:C	acceptor_gain	1.0000
5:38482668:C:CC	acceptor_gain	1.0000
5:38482670:T:C	acceptor_gain	1.0000
5:38484774:CCATT:C	donor_gain	1.0000
5:38496552:T:TC	acceptor_gain	1.0000
5:38496591:AAAGG:A	acceptor_gain	1.0000
5:38496592:AAGG:A	acceptor_gain	1.0000
5:38496596:C:CC	acceptor_gain	1.0000
5:38496598:A:C	acceptor_gain	1.0000
5:38499582:ACC:A	acceptor_loss	1.0000
5:38502635:A:AC	donor_gain	1.0000
5:38502636:C:CC	donor_gain	1.0000
5:38502636:CTGG:C	donor_gain	1.0000
5:38502795:TTCCG:T	acceptor_gain	1.0000
5:38502797:CCG:C	acceptor_gain	1.0000
5:38502798:CG:C	acceptor_gain	1.0000
5:38502798:CGC:C	acceptor_gain	1.0000
5:38502800:C:CC	acceptor_gain	1.0000
5:38502803:T:C	acceptor_gain	1.0000
5:38502803:T:TC	acceptor_gain	1.0000
5:38510456:ATACT:A	donor_loss	1.0000
5:38510457:TACTT:T	donor_loss	1.0000
5:38510458:ACTTA:A	donor_loss	1.0000
5:38510459:CTTAC:C	donor_loss	1.0000
5:38510460:TTACA:T	donor_loss	1.0000

AlphaMissense

7239 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:38489181:C:A	W744C	0.999
5:38489181:C:G	W744C	0.999
5:38489183:A:G	W744R	0.999
5:38489183:A:T	W744R	0.999
5:38484801:A:C	S855R	0.998
5:38484801:A:T	S855R	0.998
5:38484803:T:G	S855R	0.998
5:38484838:G:C	P843R	0.997
5:38485890:A:G	L809P	0.997
5:38484815:C:G	G851R	0.996
5:38484815:C:T	G851R	0.996
5:38485897:A:C	Y807D	0.996
5:38489182:C:G	W744S	0.996
5:38489194:A:T	I740K	0.996
5:38489198:A:G	S739P	0.996
5:38481712:A:C	S1059R	0.995
5:38481712:A:T	S1059R	0.995
5:38481714:T:G	S1059R	0.995
5:38489153:C:G	G754R	0.995
5:38493649:C:A	W674C	0.995
5:38493649:C:G	W674C	0.995
5:38499560:A:G	W542R	0.995
5:38499560:A:T	W542R	0.995
5:38506567:A:G	W353R	0.995
5:38506567:A:T	W353R	0.995
5:38510471:A:C	F328L	0.995
5:38510471:A:T	F328L	0.995
5:38510473:A:G	F328L	0.995
5:38484794:A:G	C858R	0.994
5:38485914:A:G	L801P	0.994

dbSNP variants (sampled 300 via entrez): RS1000000389 (5:38584606 G>A), RS1000000760 (5:38518609 T>C), RS1000008118 (5:38478450 T>C), RS1000094306 (5:38557298 A>AT), RS1000103470 (5:38502017 A>C), RS1000149995 (5:38542844 G>T), RS1000151081 (5:38502355 T>C), RS1000169167 (5:38542125 T>C), RS1000188535 (5:38609544 T>C), RS1000194485 (5:38582003 T>G), RS1000205034 (5:38559117 G>A), RS1000221204 (5:38576938 C>T), RS1000222193 (5:38541408 A>G), RS1000257248 (5:38558771 C>T), RS1000302123 (5:38518666 T>C)

Disease associations

OMIM: gene MIM:151443 | disease phenotypes: MIM:601559, MIM:610805

GenCC curated gene-disease

Disease	Classification	Inheritance
Stüve-Wiedemann syndrome	Definitive	Autosomal recessive
Stüve-Wiedemann syndrome 1	Definitive	Autosomal recessive
congenital anomaly of kidney and urinary tract	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
obsolete Stüve-Wiedemann syndrome	Definitive	AR

Mondo (6): Stuve-Wiedemann syndrome (MONDO:0031280), Stüve-Wiedemann syndrome 1 (MONDO:0800043), congenital anomaly of kidney and urinary tract (MONDO:0019719), connective tissue disorder (MONDO:0003900), hereditary breast ovarian cancer syndrome (MONDO:0003582), (MONDO:0011108)

Orphanet (3): Stüve-Wiedemann syndrome (Orphanet:3206), Renal or urinary tract malformation (Orphanet:93545), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145)

HPO phenotypes

112 total (30 of 112 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000164	Abnormality of the dentition
HP:0000205	Pursed lips
HP:0000211	Trismus
HP:0000233	Thin vermilion border
HP:0000272	Malar flattening
HP:0000293	Full cheeks
HP:0000321	Square face
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000478	Abnormality of the eye
HP:0000490	Deeply set eye
HP:0000504	Abnormality of vision
HP:0000632	Lacrimation abnormality
HP:0000633	Decreased lacrimation
HP:0000670	Carious teeth
HP:0000821	Hypothyroidism
HP:0000883	Thin ribs
HP:0000935	Thickened cortex of long bones
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0000944	Abnormal metaphysis morphology
HP:0000954	Single transverse palmar crease
HP:0000960	Sacral dimple
HP:0000963	Thin skin
HP:0000966	Hypohidrosis
HP:0000975	Hyperhidrosis
HP:0001056	Milia

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003043_72	Inflammatory bowel disease	2.000000e-20
GCST003044_153	Crohn’s disease	2.000000e-16
GCST003045_99	Ulcerative colitis	9.000000e-12
GCST005024_39	Pursuit maintenance gain	4.000000e-07
GCST006585_2694	Blood protein levels	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008433	pursuit maintenance gain measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D003240	Connective Tissue Diseases	C17.300
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431
C566906	Cakut (supp.)
C537502	Stuve-Wiedemann syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3124735 (SINGLE PROTEIN), CHEMBL3137274 (PROTEIN-PROTEIN INTERACTION)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: catalytic receptor — IL-6 receptor family

ChEMBL bioactivities

29 potent at pChembl≥5 of 40 total, top 26 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.70	IC50	2000	nM	CHEMBL6096604
5.62	IC50	2400	nM	CHEMBL6083105
5.60	IC50	2500	nM	CHEMBL6160517
5.46	IC50	3510	nM	CHEMBL6101820
5.38	IC50	4150	nM	CHEMBL6083109
5.36	IC50	4360	nM	CHEMBL6103438
5.35	IC50	4440	nM	CHEMBL6133073
5.33	IC50	4710	nM	CHEMBL6091991
5.31	IC50	4940	nM	CHEMBL6074549
5.30	IC50	4970	nM	CHEMBL4445722
5.30	IC50	5050	nM	CHEMBL6083108
5.28	IC50	5270	nM	CHEMBL318457
5.21	IC50	6110	nM	CHEMBL4588863
5.18	IC50	6650	nM	CHEMBL6096604
5.18	IC50	6630	nM	CHEMBL6078316
5.17	IC50	6830	nM	CHEMBL6103234
5.17	IC50	6700	nM	CHEMBL6078316
5.16	IC50	6910	nM	CHEMBL6102492
5.15	IC50	7040	nM	CHEMBL6091767
5.12	IC50	7630	nM	CHEMBL6101988
5.12	IC50	7630	nM	CHEMBL6120230
5.09	IC50	8200	nM	CHEMBL4445722
5.05	IC50	8850	nM	CHEMBL6134519
5.04	IC50	9230	nM	CHEMBL6120333
5.03	IC50	9300	nM	CHEMBL6160517
5.01	IC50	9680	nM	CHEMBL6114912

CTD chemical–gene interactions

69 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	6
methylmercuric chloride	increases expression, affects cotreatment	4
trichostatin A	affects cotreatment, increases expression, decreases expression	3
Air Pollutants	affects cotreatment, decreases expression, increases abundance	3
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	3
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
(+)-JQ1 compound	increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Arsenic	affects expression, affects cotreatment, decreases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	decreases expression, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
Tretinoin	increases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
p-Chloromercuribenzoic Acid	increases expression, affects cotreatment	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
oxybenzone	increases expression	1
alpha-pinene	increases abundance, affects cotreatment, decreases expression	1
bisphenol A	affects cotreatment, increases expression	1
perfluorooctanoic acid	increases expression	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
nickel sulfate	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL6073360	Binding	Antagonist activity at LIFR (unknown origin) using LIF as substrate relative to control	Design, Synthesis, and Pharmacological Evaluation of Dual FXR-LIFR Modulators for the Treatment of Liver Fibrosis. — J Med Chem

Cellosaurus cell lines

29 cell lines: 28 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_0393	LN-229	Cancer cell line	Female
CVCL_A8V5	LN229/CD20	Cancer cell line	Female
CVCL_D2R8	LN229/mCCR3	Cancer cell line	Female
CVCL_D2RM	LN229/mCD39	Cancer cell line	Female
CVCL_D2RW	LN229/CD133	Cancer cell line	Female
CVCL_D2S5	LN229/hPD-L1	Cancer cell line	Female
CVCL_D2SJ	LN229/mEGFR	Cancer cell line	Female
CVCL_D2SN	LN229/EGFR	Cancer cell line	Female
CVCL_D2SR	LN229/mHER2	Cancer cell line	Female
CVCL_D2T3	LN229/HER2	Cancer cell line	Female

Clinical trials (associated diseases)

138 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01042158	PHASE4	COMPLETED	A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis
NCT03688191	PHASE4	UNKNOWN	Study of Sirolimus in CTD-TP in China
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04197050	PHASE4	UNKNOWN	Effect of Sacubitril/Valsartan on Reduced Right Ventricular Ejection Fraction in Patients With CTD
NCT04928586	PHASE4	UNKNOWN	Immunosuppressant Combined With Pirfenidone in CTD-ILD
NCT05440240	PHASE4	RECRUITING	Percutaneous Needle Fasciotomy +/- Corticosteroid Injection for Dupuytren’s Contracture
NCT05505409	PHASE4	UNKNOWN	Efficacy and Safety of Pirfenidone in CTD-ILD
NCT06499233	PHASE4	RECRUITING	Efficacy and Safety of Prophylactic Treatment for Pneumocystis Jirovecii Pneumonia in Patients With Autoimmune Inflammatory Rheumatic Disease
NCT02562170	PHASE4	COMPLETED	Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study
NCT00864201	PHASE3	UNKNOWN	A Study to Evaluate the Use of Bosentan in Patients With Exercise Induced Pulmonary Arterial Hypertension Associated With Connective Tissue Disease
NCT01196091	PHASE3	COMPLETED	A Study of LY2127399 in Participants With Systemic Lupus Erythematosus
NCT01205438	PHASE3	COMPLETED	A Study of LY2127399 in Participants With Systemic Lupus Erythematosus
NCT01488708	PHASE3	TERMINATED	On Open-Label Study in Participants With Systemic Lupus Erythematosus
NCT03626688	PHASE3	COMPLETED	A Study Evaluating the Efficacy and Safety of Ralinepag to Improve Treatment Outcomes in PAH Patients
NCT03683186	PHASE3	ENROLLING_BY_INVITATION	A Study Evaluating the Long-Term Efficacy and Safety of Ralinepag in Subjects With PAH Via an Open-Label Extension
NCT04084678	PHASE3	TERMINATED	A Study of Ralinepag to Evaluate Effects on Exercise Capacity by CPET in Subjects With WHO Group 1 PH
NCT06716606	PHASE3	RECRUITING	A Study to Investigate the Long-term Safety and Efficacy of Belimumab in Adults With Interstitial Lung Disease (ILD) Associated With Systemic Sclerosis (SSc) and Other Connective Tissue Diseases (CTD) (BLISSconneCTD-OLE)
NCT06917690	PHASE3	RECRUITING	A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa
NCT00673335	PHASE3	COMPLETED	Letrozole in Preventing Breast Cancer in Postmenopausal Women With a BRCA1 or BRCA2 Mutation
NCT00685256	PHASE3	COMPLETED	Standard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age Children
NCT03162276	PHASE3	UNKNOWN	Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
NCT00004357	PHASE2	COMPLETED	Absorption of Corticosteroids in Children With Juvenile Dermatomyositis
NCT00005675	PHASE2	COMPLETED	Oral Type I Collagen for Relieving Scleroderma
NCT01808196	PHASE2	COMPLETED	Testing Effectiveness of Losartan in Patients With EoE With or Without a CTD
NCT02682511	PHASE2	ACTIVE_NOT_RECRUITING	Oral Ifetroban to Treat Diffuse Cutaneous Systemic Sclerosis (SSc) or SSc-associated Pulmonary Arterial Hypertension
NCT04993885	PHASE2	RECRUITING	Avatrombopag in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies
NCT05516758	PHASE2	TERMINATED	A Study of Peresolimab (LY3462817) in Participants With Moderately-to-Severely Active Rheumatoid Arthritis
NCT05998759	PHASE2	RECRUITING	Telitacicept for the Treatment of Connective Tissue Disease-associated Thrombocytopenia
NCT06104228	PHASE2	RECRUITING	129 Xenon MRI as a Biomarker for Diagnosis and Response to Therapy in Pulmonary Arterial Hypertension (PAH)
NCT00253539	PHASE2	COMPLETED	Arzoxifene or Tamoxifen in Preventing Breast Cancer in Premenopausal Women at High Risk for Breast Cancer
NCT00305695	PHASE2	COMPLETED	Zoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both Ovaries
NCT00321633	PHASE2	COMPLETED	Carboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast Cancer
NCT01333748	PHASE2	COMPLETED	Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer
NCT01367639	PHASE2	COMPLETED	Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
NCT04115345	PHASE1	COMPLETED	A Study of a Renal Autologous Cell Therapy (REACT) in Patients With Chronic Kidney Disease (CKD) From Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
NCT05694169	PHASE1	TERMINATED	A Study of Participants With Chronic Kidney Disease Previously Treated With REACT
NCT01093911	PHASE1	COMPLETED	Safety Study of CDP7657 in Healthy Volunteers and Patients With Systemic Lupus Erythematosus (SLE)
NCT01764594	PHASE1	COMPLETED	Safety Study of CDP7657 in Patients With Systemic Lupus Erythematosus
NCT02392130	PHASE1	COMPLETED	A Clinical Trial to Assess the Potential of LEO 130852A Gel to Reduce Steroid Induced Skin Atrophy on Healthy Skin
NCT03337165	PHASE1	COMPLETED	Autologous Tolerogenic Dendritic Cells for Treatment of Patients With Rheumatoid Arthritis