LIFR - LIF receptor subunit alpha Gene

Also Known as SWS; SJS2; STWS; CD118; LIF-R

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3977

About LIFR

Cytogenetic location: 5p13.1 Genomic coordinates (GRCh38): 5:38,474,668-38,608,403 (from NCBI)

This gene has 9 transcripts (splice variants), 193 orthologues, 23 paralogues and is associated with 86 phenotypes. Ubiquitous expression in fat (RPKM 34.2), endometrium (RPKM 21.9) and 24 other tissues.

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]

LIFR Products (4)

mRNA	Protein	Name
NM_001127671.2	NP_001121143.1	leukemia inhibitory factor receptor isoform a precursor
NM_001364297.2	NP_001351226.1	leukemia inhibitory factor receptor isoform a precursor
NM_001364298.2	NP_001351227.1	leukemia inhibitory factor receptor isoform b precursor
NM_002310.6	NP_002301.1	leukemia inhibitory factor receptor isoform a precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to ciliary neurotrophic factor receptor activity	IDA IDA: Inferred from direct assay	12643274	GOA
enables ciliary neurotrophic factor receptor binding	IPI IPI: Inferred from physical interaction	12707266	GOA
enables growth factor binding	IPI IPI: Inferred from physical interaction	8999038	GOA
contributes to leukemia inhibitory factor receptor activity	IDA IDA: Inferred from direct assay	8999038	GOA
enables leukemia inhibitory factor receptor activity	IDA IDA: Inferred from direct assay	7957045	GOA
contributes to oncostatin-M receptor activity	IDA IDA: Inferred from direct assay	8999038	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16051226	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ciliary neurotrophic factor-mediated signaling pathway	IDA IDA: Inferred from direct assay	12643274	GOA
acts upstream of or within cytokine-mediated signaling pathway	IDA IDA: Inferred from direct assay	7957045	GOA
involved in leukemia inhibitory factor signaling pathway	IDA IDA: Inferred from direct assay	8999038	GOA
involved in oncostatin-M-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	8999038	GOA
acts upstream of or within positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	7957045	GOA
involved in positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	8999038	GOA
involved in response to cytokine	IDA IDA: Inferred from direct assay	8999038	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of receptor complex	IDA IDA: Inferred from direct assay	8999038	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LIFR Protein Structure

fn3

0
200
400
600
800
1000
1097 a.a.

Protein Preferred Names	Protein Names
leukemia inhibitory factor receptor	CD118 antigen

LIFR Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LIFR	P42702	CNTF	Homo sapiens	P26441	ITC	18775332
Intra	LIFR	P42702	CNTF	Homo sapiens	P26441	Pull Down	16051226
Intra	LIFR	P42702	CNTF	Homo sapiens	P26441	GMS	18775332

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant LIFR Proteins

Cat. No.	상품명	Accession	Purity
HY-P77058	LIFR Protein, Human (HEK293, Fc)	NP_002301.1 (Q45-S833)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P77059	LIFR Protein, Human (HEK293, His)	NP_001121143.1 (Q45-S833)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P77060	LIFR Protein, Human (Biotinylated, HEK293, His)	NP_001121143.1 (Q45-S833)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P700418	LIFR Protein, Human (HEK293, hFc-Flag)	P42702-1 (Q45-S833)	≥ 95%, as determined by reducing SDS-PAGE.

LIFR Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P811345	LIFR Antibody	WB, ICC/IF	Human
HY-P86943	LIFR Antibody (YA6636)	WB	Human

Related Diseases

Diseases	Alias
Stuve-Wiedemann Syndrome 1	Stuve-Wiedemann Syndrome Sjs2 STWS Stuve-Wiedemann/Schwartz-Jampel Type 2 Syndrome Sws Schwartz-Jampel Syndrome Type 2 Stuve-Wiedemann Dysplasia Schwartz-Jampel Syndrome, Neonatal Stuve-Wiedemann Syndrome/Schwartz-Jampel Type 2 Syndrome Neonatal Schwartz-Jampel Syndrome Stüve-Wiedemann Syndrome 1 STWS1 Schwartz-Jampel Syndrome, Type 2 Neonatal Schwartz-Jampel Syndrome Type 2 Schwartz-Jampel Syndrome Neonatal Stüve-Wiedemann Syndrome Schwartz-Jampel Type 2 Syndrome
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Hemophagocytic Lymphohistiocytosis, Familial, 2	Familial Hemophagocytic Lymphohistiocytosis 2 FHL2 Hplh2 Hlh2 Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To Lymphohistiocytosis, Hemophagocytic, Familial, Type 2
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Adenoma	Acinar Cell Adenoma Adenomas Acinic Cell Adenoma
Prolactinoma	Prolactin-Producing Pituitary Gland Adenoma Prolactin-Secreting Pituitary Adenoma Forbes-Albright Syndrome Lactotroph Adenoma Prl-Secreting Pituitary Adenoma Prloma Pituitary Lactotrophic Adenoma Familial Prolactinoma Pituitary Adenoma, Prolactin-Secreting Prolactinoma Of Pituitary Gland PSPA
Cold-Induced Sweating Syndrome	Crisponi Syndrome Sohar-Crisponi Syndrome Ciss Cntf Receptor-Related Disorders Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death Sweating Syndrome, Cold-Induced
Arthrogryposis, Distal, Type 1a	Distal Arthrogryposis Type 1 Digitotalar Dysmorphism DA1A Da1 Amcd1 Arthrogryposis, Distal, Type 2b4 Distal Arthrogryposis Type 1a Arthrogryposis, Distal, Type 1 Arthrogryposis Multiplex Congenita Distal Type 1 Arthrogryposis Multiplex Congenita, Distal Type 1 Arthrogryposis Multiplex Congenita, Distal, Type I Distal Arthrogryposis Type 1b Arthrogryposis, Distal, 1a Amc Arthrogryposis Multiplex Congenita Arthrogryposis, Distal, 2b4 DA2B4 Arthrogryposis Multiplex Congenita, Distal, Type 1 Arthrogryposis
Crisponi/Cold-Induced Sweating Syndrome 2	Cold-Induced Sweating Syndrome 2 CISS2 Sweating Syndrome, Cold-Induced, Type 2
Meier-Gorlin Syndrome 1	Meier-Gorlin Syndrome Ear, Patella, Short Stature Syndrome Microtia, Absent Patellae, Micrognathia Syndrome MGORS1 Eps Ear-Patella-Short Stature Syndrome Ear Patella Short Stature Syndrome Microtia Absent Patellae Micrognathia Syndrome Meier-Gorlin Syndrome, Type 1
Infertility
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-120142	EC359	Inducer	99.77%	Unkown
HY-169192	BAR-2227	Agonist	/	Unkown
HY-178477	LIFR/GPBAR1 modulator 1		/	Unkown
HY-RS07641	LIFR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17192	Lifr Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23643	Lifr Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	LIFR	VGNC	VGNC:68045
Bos taurus	LIFR	VGNC	VGNC:30881
Macaca mulatta	LIFR	VGNC	VGNC:74264
Rattus norvegicus	LIFR	RGD	RGD:621431
Canis familiaris	LIFR	VGNC	VGNC:42672
Mus musculus	LIFR	MGD	MGI:96788
Others	LIFR	NCBI