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LIFR Gene

protein-coding   GIFtS: 68
GCID: GC05M038475

Leukemia Inhibitory Factor Receptor Alpha

(Previous name: leukemia inhibitory factor receptor)
  See LIFR-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Leukemia Inhibitory Factor Receptor Alpha1 2     SJS22 5
Leukemia Inhibitory Factor Receptor1 2     STWS2 5
LIF-R2 3     SWS2 5
CD118 Antigen2 3     CD1182
LIF Receptor2 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LIFR Gene:
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)

GeneCards Summary for LIFR Gene:
LIFR (leukemia inhibitory factor receptor alpha) is a protein-coding gene. Diseases associated with LIFR include cycloplegia, and stuve-wiedemann syndrome. GO annotations related to this gene include ciliary neurotrophic factor receptor activity and growth factor binding. An important paralog of this gene is OSMR.

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) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_006576.17  
Regulatory elements:
   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 Chromatin IP Primers for LIFR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for LIFR at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn64, Asn85, Asn131, Asn143, Asn191, Asn243, Asn303, Asn390, Asn407, Asn426,
                                 Asn445, Asn481, Asn489, Asn572, Asn652, Asn663, Asn680, Asn729, Asn787
  • Modification sites at PhosphoSitePlus

  • See LIFR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001121143.1  NP_002301.1  

    ENSEMBL proteins: 
     ENSP00000263409   ENSP00000398368   ENSP00000426919   ENSP00000426685   ENSP00000427310  

    LIFR Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for LIFR (LIF R alpha)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for LIFR
    OriGene Custom MassSpec
    OriGene Custom Protein Services for LIFR
    GenScript Custom Purified and Recombinant Proteins Services for LIFR
    Novus Biologicals LIFR Proteins
    Novus Biologicals LIFR Lysates
    Sino Biological Recombinant Protein for LIFR
    Sino Biological Cell Lysate for LIFR
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LIFR

     
    Search eBioscience for Proteins for LIFR 

    LIFR Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for LIFR (LIF R alpha)
    OriGene Antibodies for LIFR
    OriGene Custom Antibody Services for LIFR
    Novus Biologicals LIFR Antibodies
    Abcam antibodies for LIFR
    Cloud-Clone Corp. Antibodies for LIFR
    Search ThermoFisher Antibodies for LIFR
    LSBio Antibodies in human, mouse, rat for LIFR

    LIFR Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for LIFR
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LIFR
    Cloud-Clone Corp. CLIAs for LIFR
    eBioscience ELISAs for LIFR: (see all 2
                        Human sLIF-R (gp190) Matched Antibody Pairs 10 x 96 tests


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    CD: CD molecules

    IUPHAR Guide to PHARMACOLOGY protein family classification: Leukemia inhibitory factor receptor
    IL-6 receptor family

    3 InterPro protein domains:
     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 domain: 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


    Find genes that share domains with LIFR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004897contributes to ciliary neurotrophic factor receptor activity IDA12643274
    GO:0004923contributes to leukemia inhibitory factor receptor activity IDA12643274
    GO:0004924contributes to oncostatin-M receptor activity IDA8999038
    GO:0005127ciliary neurotrophic factor receptor binding IPI12707266
    GO:0005515protein binding ----
         
    Find genes that share ontologies with LIFR           About GenesLikeMe


    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/body  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  nervous system  skeleton 

    Find genes that share phenotypes with LIFR           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LIFR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LIFR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LIFR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LIFR

    miRNA
    Products:
        
    miRTarBase miRNAs that target LIFR:
    hsa-mir-1 (MIRT023796), hsa-mir-98-5p (MIRT027645), hsa-mir-101-3p (MIRT027384), hsa-mir-335-5p (MIRT017803), hsa-mir-21-5p (MIRT030857), hsa-mir-1296-5p (MIRT036142), hsa-mir-128-3p (MIRT022009), hsa-mir-27a-3p (MIRT028740)

    Block miRNA regulation of human, mouse, rat LIFR using miScript Target Protectors
    Selected qRT-PCR 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
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for LIFR
    Predesigned siRNA for gene silencing in human, mouse, rat LIFR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for LIFR

    Clone
    Products:
         
    OriGene clones in human, mouse for LIFR (see all 12)
    OriGene ORF clones in mouse, rat for LIFR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): LIFR (NM_002310)
    Sino Biological Human cDNA Clone for LIFR
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LIFR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LIFR

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for LIFR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIFR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LIFR_HUMAN, P42702: Isoform 1: Cell membrane; Single-pass type I membrane protein
    LIFR_HUMAN, P42702: Isoform 2: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005887integral component of plasma membrane TAS1915266

    Find genes that share ontologies with LIFR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for LIFR About   (see all 20)  
    See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    Endothelin-1 Signaling Pathway0.46
    2G protein signaling Ras family GTPases in kinase cascades scheme
    Immune response Oncostatin M signaling via MAPK in human cells0.39
    Oncostatin M Signaling Pathway0.37
    3GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    P2Y Receptor Signaling0.38
    4ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    5Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48


    Find genes that share SuperPaths with LIFR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    3 BioSystems Pathways for LIFR
        Adipogenesis
    Oncostatin M Signaling Pathway
    Physiological and Pathological Hypertrophy of the Heart



    2 Kegg Pathways  (Kegg details for LIFR):
        Cytokine-cytokine receptor interaction
    Jak-STAT signaling pathway

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for LIFR

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

    Selected Interacting proteins for LIFR (P427022, 3 ENSP000002634094) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LIFP150182, 3, ENSP000002490754MINT-62477 MINT-62475 I2D: score=4 STRING: ENSP00000249075
    OSMP137252, 3, ENSP000002157814MINT-62478 MINT-62476 I2D: score=3 STRING: ENSP00000215781
    CNTFP264412, 3, ENSP000003553704MINT-62474 MINT-62473 I2D: score=3 STRING: ENSP00000355370
    CNTFRP269923, ENSP000002423384I2D: score=2 STRING: ENSP00000242338
    IL6STP401893, ENSP000003387994I2D: score=2 STRING: ENSP00000338799
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007166cell surface receptor signaling pathway TAS1915266
    GO:0008284positive regulation of cell proliferation IDA7957045
    GO:0019221cytokine-mediated signaling pathway IDA7957045
    GO:0034097response to cytokine IDA8999038
    GO:0038165oncostatin-M-mediated signaling pathway IDA8999038

    Find genes that share ontologies with LIFR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LIFR

    Selected Novoseek inferred 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)



    Find genes that share compounds with LIFR           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    Selected qRT-PCR 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
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): LIFR (NM_002310)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LIFR
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LIFR
      QuantiTect SYBR Green Assays in human, mouse, rat LIFR
      QuantiFast Probe-based Assays in human, mouse, rat LIFR

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 189):

    BU681699 AI308200 BQ008945 BX953323 AA115340 AL699554 AA548964 AA330426 
    CD677525 AI439137 BM667044 BE042963 F10398 AI478816 AW183605 CB268214 
    AA701657 AI796734 BE906487 AW468877 CB216703 C16690 BX281834 AI692381 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LIFR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAAAATAA
    LIFR Expression
    About this image


    LIFR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             pre Conventional Dendritic Cells Peripheral Blood
             Umbilical cord blood-derived mesenchymal stem cells
     
     Mesenchymal Stem Cells
             Bone Marrow Stromal Cells Pelvic Girdle
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 3 entries
             Zygote Zygote
     
     Zygote (Early Embryonic Tissues)    fully expand to see all 3 entries
             Zygote Zygote
     
     Inner Cell Mass (Early Embryo)    fully expand to see all 3 entries
             Zygote Zygote
    LIFR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LIFR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.133421
        Pathway & Disease-focused RT2 Profiler 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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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for LIFR gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lifr1 , 5 leukemia inhibitory factor receptor1, 5 78.51(n)1
    75.55(a)1
      15 (3.46 cM)5
    168801  NM_013584.21  NP_038612.11 
     71295725 
    chicken
    (Gallus gallus)
    Aves LIFR1 leukemia inhibitory factor receptor alpha 64.01(n)
    54.18(a)
      395262  NM_204575.1  NP_989906.1 
    lizard
    (Anolis carolinensis)
    Reptilia LIFR6
    leukemia inhibitory factor receptor alpha
    48(a)
    1 ↔ 1
    GL343241.1(272243-369895)
    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 43.49(n)
    31.84(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  IL6ST2  CSF3R2  IL31RA2  IL12RB22  
    1 SIMAP similar gene for LIFR using alignment to 4 protein entries:     LIFR_HUMAN (see all proteins):
    OSMR

    Find genes that share paralogs with LIFR           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LIFR (see all 1763)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361664
    A colorectal cancer sample4--see VAR_0361662 F L mis40--------
    VAR_0256664
    Stueve-Wiedemann syndrome (STWS)4--see VAR_0256662 S P mis40--------
    rs1219125011,2
    Cpathogenic138440895(-) AGATAC/TGACTT 4 R * stg10--------
    rs1437382641,2
    --38418920(+) CTTAAC/TTTCTC 2 -- ds50010--------
    rs1383295201,2
    C--38419004(+) CCTAAC/TAGGGT 2 -- ds50010--------
    rs730774451,2
    C--38419008(+) ATAGGG/TTGAAA 2 -- ds50012Minor allele frequency- T:0.20WA EA 122
    rs1130747571,2
    C,F--38419056(+) TAAGCC/TATTTT 2 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1456941611,2
    C--38419085(+) AACCA-/TTACT 
            
    TTAAA
    2 -- ds50010--------
    rs1818292321,2
    --38419112(+) TTATTG/TATTTG 2 -- ds50010--------
    rs590469861,2
    C,F--38419120(+) TTGCTC/AATGTT 2 -- ds50011Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for LIFR (38475065 - 38608456 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for LIFR:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667196CNV Deletion23128226
    esv22263CNV Loss19812545
    nsv516065CNV Gain19592680

    Human Gene Mutation Database (HGMD): LIFR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 151443   
    OMIM disorders: 601559  
    UniProtKB/Swiss-Prot: LIFR_HUMAN, P42702
  • Stueve-Wiedemann syndrome (STWS) [MIM:601559]: 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=The disease is caused by mutations affecting the gene
    represented in this entry
  • 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

  • 7 diseases for LIFR:    
    About MalaCards
    cycloplegia    stuve-wiedemann syndrome    adenoma    cerebral meningioma
    cold-induced sweating syndrome    acth-secreting pituitary adenoma    leukemia


    Find genes that share disorders with LIFR           About GenesLikeMe

    Selected Novoseek inferred 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)

    Genetic Association Database (GAD): LIFR
    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 10 sources (see all 258):
    (articles sorted by number of sources associating them with LIFR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (EMBO J. 1991)
    2. 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. (Am. J. Hum. Genet. 2004)
    3. Structural organization of a full-length gp130/LIF-R cytokine receptor transmembrane complex. (PubMed id 18775332)1, 2, 9 Skiniotis G.... Garcia K.C. (Mol. Cell 2008)
    4. 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. (Oncogene 1998)
    5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    6. 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. (amp 2000)
    7. 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. (J. Biol. Chem. 2003)
    8. Leukemia inhibitory factor receptor (LIFR) is detected as a novel suppressor gene of hepatocellular carcinoma using double-combination array. (PubMed id 19733004)1, 9 Okamura Y....Nakao A. (Cancer Lett. 2010)
    9. 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. (J. Mol. Biol. 2002)
    10. 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. (Proc. Natl. Acad. Sci. U.S.A. 1995)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LIFR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LIFR Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LIFR[genesymbol]

    (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:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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