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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LIFR Gene

protein-coding GIFtS: 65
GCID: GC05M038475

leukemia inhibitory factor receptor alpha

(Previous name: leukemia inhibitory factor receptor )

Explore 51 diseases affiliated with
LIFR via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Leukemia Inhibitory Factor Receptor Alpha¹ ²		LIF Receptor² ³
CD118¹ ²		SJS2² ⁵
Leukemia Inhibitory Factor Receptor¹ ²		STWS² ⁵
LIF-R² ³		SWS² ⁵
CD118 Antigen² ³

External Ids:	HGNC: 6597¹	Entrez Gene: 3977²	Ensembl: ENSG00000113594⁷	OMIM: 151443⁵	UniProtKB: P42702³

Export aliases for LIFR gene to outside databases

Previous GC identifers: GC05M038663 GC05M039546 GC05M038480 GC05M038525 GC05M038515 GC05M038427

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LIFR:

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 the same protein have been found for this

gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: LIFR_HUMAN, P42702

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

Gene Wiki entry for LIFR (Leukemia inhibitory factor receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_006576.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LIFR gene promoter:
GR C/EBPbeta Sox5 Pbx1a GATA-2 AREB6 PPAR-gamma1 STAT3 PPAR-gamma2 GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): LIFR promoter sequence

Search SABiosciences Chromatin IP Primers for LIFR

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LIFR

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p13-p12 Ensembl cytogenetic band: 5p13.1 HGNC cytogenetic band: 5p13-p12

LIFR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LIFR gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M038475: view genomic region (about GC identifiers)

Start:	38,475,065 bp from pter	End:	38,608,456 bp from pter
Size:	133,392 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LIFR_HUMAN, P42702 (See protein sequence)

Recommended Name: Leukemia inhibitory factor receptor precursor

Size: 1097 amino acids; 123743 Da

Subunit: Heterodimer composed of LIFR and IL6ST. The heterodimer formed by LIFR and IL6ST interacts with the complex

formed by CNTF and CNTFR

Subcellular location: Isoform 1: Cell membrane; Single-pass type I membrane protein

Subcellular location: Isoform 2: Secreted

1 PDB 3D structure from and Proteopedia for LIFR:

3E0G (3D)

Secondary accessions: Q6LCD9

Alternative splicing: 2 isoforms: P42702-1 P42702-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LIFR: NX_P42702

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P42702

LIFR Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001121143.1 NP_002301.1

ENSEMBL proteins:

ENSP00000263409 ENSP00000398368 ENSP00000426919 ENSP00000426685 ENSP00000427310

Human Recombinant Protein Products for LIFR:

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	Novus Biologicals LIFR Proteins Novus Biologicals LIFR Lysates
	Sino Biological Recombinant Protein for LIFR
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for LIFR

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005887	integral to plasma membrane	TAS	1915266

LIFR for ontologies About GeneDecksing

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Assay Products for LIFR:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for LIFR

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

LIFR for domains About GeneDecksing

3 InterPro domains/families:

IPR003961 Fibronectin_type3

IPR013783 Ig-like_fold

IPR003529 Hematopoietin_rcpt_Gp130_CS

Graphical View of Domain Structure for InterPro Entry P42702

ProtoNet protein and cluster: P42702

1 Blocks protein family: IPB003529 Long hematopoietin receptor

UniProtKB/Swiss-Prot: LIFR_HUMAN, P42702

Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular

transport and cell-surface receptor binding

Domain: The box 1 motif is required for JAK interaction and/or activation

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

Similarity: Contains 6 fibronectin type-III domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: LIFR_HUMAN, P42702

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

Genatlas biochemistry entry for LIFR:

leukemia inhibitory factor receptor

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004897	contributes to ciliary neurotrophic factor receptor activity	IDA	12643274
GO:0004923	contributes to leukemia inhibitory factor receptor activity	IDA	12643274
GO:0004924	contributes to oncostatin-M receptor activity	IDA	8999038
GO:0005127	ciliary neurotrophic factor receptor binding	IPI	12707266
GO:0005515	protein binding	--	--

LIFR for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for LIFR:

Increased HDAC inhibitor resis

8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Lifr):

embryogenesis	growth/size	hematopoietic system	homeostasis/metabolism	immune system
mortality/aging	nervous system	skeleton

LIFR for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for LIFR

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		8/91 QIAGEN miScript miRNA Assays for microRNAs that regulate LIFR (see all 91):
		hsa-miR-140-5p hsa-miR-548j hsa-miR-128 hsa-miR-30d hsa-miR-342-3p hsa-miR-3161 hsa-miR-30a hsa-miR-1244

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIFR

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/19 super-pathways (see all 19) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

GPCR Pathway

GPCR Pathway	1.00	Estrogen Pathway	0.55
Ras Pathway	0.62	Pancreatic Adenocarcinoma	0.55
Breast Cancer Regulation by Stathmin1	0.58	Paxillin Interactions	0.53
NFAT in Immune Response	0.58	P2Y Receptor Signaling	0.38

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

Nanog in Mammalian ESC Pluripotency

	Nanog in Mammalian ESC Pluripotency	1.00			14-3-3 Induced Intracellular Signaling	0.59
	GSK3 Signaling	0.61			eNOS Signaling	0.48

Actin Nucleation by ARP-WASP Complex

	Actin Nucleation by ARP-WASP Complex	1.00			CDC42 Pathway	0.34
	Actin Nucleation and Branching	0.66

Akt Signaling

	Akt Signaling	1.00			Tec Kinases Signaling	0.55
	p38 Signaling	0.60

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for LIFR

	Immune response Oncostatin M signaling via MAPK in human cells
	Development CNTF receptor signaling
	Immune response Oncostatin M signaling via JAK-Stat in human cells

5/35 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LIFR (see all 35)

	Paxillin Interactions
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C
	Intracellular Calcium Signaling
	JNK Pathway

3 GeneGo (Thomson Reuters) Pathways for LIFR

	Development CNTF receptor signaling
	Immune response Oncostatin M signaling via JAK-Stat in human cells
	Immune response Oncostatin M signaling via MAPK in human cells

2 BioSystems Pathways for LIFR

	Oncostatin M Signaling Pathway
	Adipogenesis

2 Kegg Pathways (Kegg details for LIFR):

	Cytokine-cytokine receptor interaction
	Jak-STAT signaling pathway

LIFR for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for LIFR

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/27 Interacting proteins for LIFR (P42702^{2, 3} ENSP00000263409⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
LIF	P15018²^,³, ENSP00000249075⁴	MINT-62477 MINT-62475 I2D: score=4 STRING: ENSP00000249075
OSM	P13725²^,³, ENSP00000215781⁴	MINT-62478 MINT-62476 I2D: score=3 STRING: ENSP00000215781
CNTF	P26441²^,³, ENSP00000355370⁴	MINT-62474 MINT-62473 I2D: score=3 STRING: ENSP00000355370
CNTFR	P26992³, ENSP00000242338⁴	I2D: score=2 STRING: ENSP00000242338
IL6ST	P40189³, ENSP00000338799⁴	I2D: score=2 STRING: ENSP00000338799

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007166	cell surface receptor signaling pathway	TAS	1915266
GO:0008284	positive regulation of cell proliferation	IDA	8999038
GO:0019221	cytokine-mediated signaling pathway	IDA	7957045
GO:0031100	organ regeneration	--	--
GO:0034097	response to cytokine stimulus	IDA	8999038

LIFR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

LIFR for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LIFR
10/12 Novoseek chemical compound relationships for LIFR gene (see all 12) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gp 130	96.3	285	17430984 (7), 10586060 (5), 16254248 (5), 9568895 (5) (see all 99)
acth	42.2	7	15372367 (3), 8901611 (1), 8621768 (1)
tyrosine	41.9	14	10800945 (2), 8156996 (1), 15054106 (1), 18174171 (1) (see all 11)
cholesterol	4.95	1	17448148 (1)
oligonucleotide	0	1	17332938 (1)
lipid	0	5	17448148 (3), 15054106 (1)
steroid	0	1	12007288 (1)
progesterone	0	4	16759928 (1), 17430984 (1)
zinc	0	2	16890764 (1)
alanine	0	3	8662595 (1), 8799186 (1), 12707269 (1)

Search CenterWatch for drugs/clinical trials and news about LIFR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LIFR gene (2 alternative transcripts):

NM_001127671.1 NM_002310.5

Unigene Cluster for LIFR:

Leukemia inhibitory factor receptor alpha

Hs.133421 [show with all ESTs]

Unigene Representative Sequence: NM_001127671

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000263409(uc010ive.1 uc003jli.2) ENST00000453190 ENST00000508477

ENST00000506003 ENST00000503088 ENST00000506990 ENST00000512723 ENST00000511561

ENST00000507786

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		8/91 QIAGEN miScript miRNA Assays for microRNAs that regulate LIFR (see all 91):
		hsa-miR-140-5p hsa-miR-548j hsa-miR-128 hsa-miR-30d hsa-miR-342-3p hsa-miR-3161 hsa-miR-30a hsa-miR-1244

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		Sirion Biotech Custom design and validation of potent shRNA sequences against LIFR

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LIFR

Additional cDNA sequence:

AK290059.1 AK308158.1 AK309882.1 BX648635.1 U66563.1 X61615.1

9 DOTS entries:

DT.110025 DT.120802825 DT.120802819 DT.443736 DT.91819639 DT.120802794 DT.40261769 DT.120802816

DT.97765994

24/189 AceView cDNA sequences (see all 189):

AI538032 AI796734 AA701657 CB268214 BE906487 AW468877 AW072849 AI478816

C16690 AW183605 BQ008380 BX482402 AI692381 F13488 BQ880859 BQ716892

CF528263 AW952494 BU681699 Z38910 AA150114 BQ917847 AI308200 CB216703

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for LIFR (see all 7) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5a	·	5b	^	6a	·	6b	·	6c	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	^	15	^	16a	·	16b	^	17	^	18	^	19	^
SP1:			-		-		-		-		-								-
SP2:																																											-
SP3:					-		-		-		-								-
SP4:											-								-
SP5:

ExUns:	20a	·	20b	^	21a	·	21b	^	22	^	23a	·	23b
SP1:					-
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for LIFR

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

LIFR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAAAAAATAA

About this image

LIFR expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

8 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Early Embryo (Zygote)

Morula

8-Cell Embryo

Early Embryo

Early Embryo (Zygote)

Morula

Morula Cells

Early Embryo

Early Embryo (Zygote)

Zygote

Early Embryo

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Testis

Brain

Neural Tube

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

See LIFR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LIFR

SOURCE GeneReport for Unigene cluster: Hs.133421

SABiosciences Expression via Pathway-Focused PCR Arrays including LIFR:

Interferons & Receptors in human mouse rat

Neurotrophins & Receptors in human mouse rat

Stem Cell Signaling in human mouse rat

Embryonic Stem Cells in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat LIFR
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LIFR

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIFR

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for LIFR gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LIFR¹	leukemia inhibitory factor receptor alpha	63.91(n) 54.08(a)		395262 NM_204575.1 NP_989906.1
lizard (Anolis carolinensis)	Reptilia	LIFR⁶	--	46(a)	1 ↔ 1	GL343241.1(319457-365259)
African clawed frog (Xenopus laevis)	Amphibia	Xl.32223²	Xenopus laevis transcribed sequences	77.54(n)		BJ620098.1
zebrafish (Danio rerio)	Actinopterygii	lifra¹	leukemia inhibitory factor receptor alpha a	43.12(n) 31.54(a)		541493 NM_001014306.1 NP_001014328.1

ENSEMBL Gene Tree for LIFR (if available)
TreeFam Gene Tree for LIFR (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for LIFR gene

OSMR² CSF3R² IL6ST² IL31RA² IL27RA² IL12RB2²

1 SIMAP similar gene for LIFR using alignment to 4 protein entries: LIFR_HUMAN (see all proteins):

OSMR

LIFR for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121912501^1,2	C	pathogenic	38448597(-)	`AGATAC/TGACTT`	4	R *	stg¹		0	--	--	--	--
rs113074757^1,2		--	38426757(+)	`TAAGCC/TATTTT`	2	--	ds500¹		1		CSA	2
rs59046986^1,2	C	--	38426821(+)	`TTGCTC/AATGTT`	2	--	ds500¹		1		WA	2
rs112733645^1,2		--	38426867(+)	`CTCAGG/TTAAAC`	2	--	ds500¹		1		CSA	2
rs72742524^1,2	C	--	38426944(+)	`TACATC/TCATAG`	2	--	ds500¹		1		NA	120
rs115572283^1,2	C,F	--	38427397(+)	`GAGTTG/ATTTTA`	2	--	ut3¹		1		WA	118
rs73077446^1,2	C	--	38427573(+)	`TAGTGG/CTAACA`	2	--	ut3¹		2		WA	120
rs7713531^1,2	C,F	--	38428357(+)	`AGCAAT/CTGCAA`	2	--	ut3¹		3		WA CSA	122
rs58755763^1,2	C,F	--	38428488(+)	`AGTTCG/AGAAGC`	2	--	ut3¹		1		WA	118
rs3822426^1,2	C,F,A,H	--	38428544(+)	`CTTTAA/TATGTA`	2	--	ut3¹ ese³		5		NA WA	244

HapMap Linkage Disequilibrium report for LIFR (38475065 - 38608456 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for LIFR
1 CNV: 51696
1 Indel: 69056
Human Gene Mutation Database (HGMD): LIFR

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LIFR

DNA2.0 Custom Variant and Variant Library Synthesis for LIFR

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

LIFR for disorders           About GeneDecksing

OMIM gene information: 151443
OMIM disorders: 601559
UniProtKB/Swiss-Prot: LIFR_HUMAN, P42702

Defects in LIFR are the cause of Stueve-Wiedemann syndrome (SWS) [MIM:601559]; also knowns as Schwartz-Jampel

syndrome type 2 (SJS2). SWS is a severe autosomal recessive condition and belongs to the group of the bent-bone

dysplasias. SWS is characterized by bowing of the lower limbs, with internal cortical thickening, wide metaphyses with

abnormal trabecular pattern, and camptodactyly. Additional features include feeding and swallowing difficulties, as

well as respiratory distress and hyperthermic episodes, which cause death in the first months of life. The rare

survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and

dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue

Note=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

20/51 diseases for LIFR (see all 51): About MalaCards

schwartz-jampel syndrome stuve-wiedemann syndrome leukemia adenoma

cold-induced sweating syndrome acth-secreting pituitary adenoma status epilepticus pituitary adenoma

familial adenomatous polyposis plasmacytoma prolactinoma eating disorder

pleomorphic adenoma motor neuron disease dysautonomia kaposi's sarcoma

cerebral meningioma cblc choriocarcinoma polyposis

1 disease from the University of Copenhagen DISEASES database for LIFR:

Somatization disorder

10/18 Novoseek disease relationships for LIFR gene (see all 18) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
leukemia	87.6	215	10586060 (2), 19471560 (2), 8276403 (2), 15634574 (2) (see all 99)
stuve-wiedemann syndrome	84.8	1	15324311 (1)
carcinoma embryonal	36.4	1	1425015 (1)
choriocarcinoma	24.6	1	8583009 (1)
prolactinoma	21.7	2	12574225 (1), 11095488 (1)
infertility	16.2	1	18684446 (1)
plasmacytoma	13.4	2	1425017 (1)
medulloblastoma	8.68	3	8762436 (1), 10480339 (1)
myeloma	5.56	5	8916964 (3)
pituitary adenoma	2.48	6	15372367 (3), 11095488 (1)

Human Genome Epidemiology (HuGE) Navigator: LIFR (7 documents)

Export disorders for LIFR gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for LIFR gene, integrated from 9 sources (see all 252):
(articles sorted by number of sources associating them with LIFR)

Utopia: connect your pdf to the dynamic
world of online information

Leukemia inhibitory factor receptor is structurally related to the IL-6 signal transducer, gp130. (PubMed id 1915266)^{1, 2, 3, 9} Gearing D.P.... Beckmann M.P. (1991)
Null leukemia inhibitory factor receptor (LIFR) mutations in Stueve- Wiedemann/Schwartz-Jampel type 2 syndrome. (PubMed id 14740318)^{1, 2, 9} Dagoneau N....Cormier-Daire V. (2004)
Structural organization of a full-length gp130/LIF-R cytokine receptor transmembrane complex. (PubMed id 18775332)^{1, 2, 9} Skiniotis G.... Garcia K.C. (2008)
The recurrent translocation t(5;8)(p13;q12) in pleomorphic adenomas results in upregulation of PLAG1 gene expression under control of the LIFR promoter. (PubMed id 9525740)^{1, 2, 9} Voz M.L....Van de Ven W.J.M. (1998)
Structural and functional studies on the leukemia inhibitory factor receptor (LIF-R): gene and soluble form of LIF-R, and cytoplasmic domain of LIF-R required for differentiation and growth arrest of myeloid leukemic cells. (PubMed id 11042511)^{1, 9} Tomida M. (2000)
Leukemia inhibitory factor (LIF), cardiotrophin-1, and oncostatin M share structural binding determinants in the immunoglobulin-like domain of LIF receptor. (PubMed id 12707269)^{1, 9} Plun-Favreau H....Chabbert M. (2003)
Leukemia inhibitory factor receptor (LIFR) is detecte d as a novel suppressor gene of hepatocellular carcinoma using double-combinati on array. (PubMed id 19733004)^{1, 9} Okamura Y....Nakao A. (2010)
The upper cytokine-binding module and the Ig-like domain of the leukaemia inhibitory factor (LIF) receptor are sufficient for a functional LIF receptor complex. (PubMed id 11812136)^{1, 9} Aasland D....Kallen K.J. (2002)
Phosphorylation of the human leukemia inhibitory factor (LIF) receptor by mitogen-activated protein kinase and the regulation of LIF receptor function by heterologous receptor activation. (PubMed id 7777512)^{1, 9} Schiemann W.P....Nathanson N.M. (1995)
The leukemia inhibitory factor receptor (LIFR) gene is located within a cluster of cytokine receptor loci on mouse chromosome 15 and human chromosome 5p12-p13. (PubMed id 8276403)^{1, 9} Gearing D.P....Jenkins N.A. (1993)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3977	HGNC: 6597	AceView: LIFR	Ensembl:ENSG00000113594	euGenes: HUgn3977
ECgene: LIFR	Kegg: 3977	H-InvDB: LIFR

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for LIFR	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for LIFR	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LIFR

Intellectual Property for LIFR gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for LIFR gene:
Search GeneIP for patents involving LIFR

GeneCards and IP:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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leukemia inhibitory factor receptor alpha

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leukemia inhibitory factor receptor alpha

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