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Aliases for LIFR Gene

Aliases for LIFR Gene

  • Leukemia Inhibitory Factor Receptor Alpha 2 3 5
  • Leukemia Inhibitory Factor Receptor 2 3
  • CD118 Antigen 3 4
  • LIF Receptor 3 4
  • LIF-R 3 4
  • CD118 3
  • SJS2 3
  • STWS 3
  • SWS 3

External Ids for LIFR Gene

Previous GeneCards Identifiers for LIFR Gene

  • GC05M038663
  • GC05M039546
  • GC05M038480
  • GC05M038525
  • GC05M038515
  • GC05M038427

Summaries for LIFR Gene

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 Stuve-Wiedemann Syndrome/Schwartz-Jampel Type 2 Syndrome and Leukemia. Among its related pathways are PEDF Induced Signaling and NFAT and Cardiac Hypertrophy. GO annotations related to this gene include growth factor binding and ciliary neurotrophic factor receptor activity. An important paralog of this gene is OSMR.

UniProtKB/Swiss-Prot for LIFR Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LIFR Gene

Genomics for LIFR Gene

Regulatory Elements for LIFR Gene

Enhancers for LIFR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around LIFR on UCSC Golden Path with GeneCards custom track

Genomic Location for LIFR Gene

Chromosome:
5
Start:
38,474,963 bp from pter
End:
38,608,354 bp from pter
Size:
133,392 bases
Orientation:
Minus strand

Genomic View for LIFR Gene

Genes around LIFR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LIFR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LIFR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LIFR Gene

Proteins for LIFR Gene

  • Protein details for LIFR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42702-LIFR_HUMAN
    Recommended name:
    Leukemia inhibitory factor receptor
    Protein Accession:
    P42702
    Secondary Accessions:
    • Q6LCD9

    Protein attributes for LIFR Gene

    Size:
    1097 amino acids
    Molecular mass:
    123743 Da
    Quaternary structure:
    • Heterodimer composed of LIFR and IL6ST. The heterodimer formed by LIFR and IL6ST interacts with the complex formed by CNTF and CNTFR.

    Three dimensional structures from OCA and Proteopedia for LIFR Gene

    Alternative splice isoforms for LIFR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LIFR Gene

Post-translational modifications for LIFR Gene

  • Glycosylation at Asn 64, Asn 85, Asn 131, Asn 143, Asn 191, Asn 243, Asn 303, Asn 390, Asn 407, Asn 426, Asn 445, Asn 481, Asn 489, Asn 572, Asn 652, Asn 663, Asn 680, Asn 729, and Asn 787
  • Modification sites at PhosphoSitePlus

Other Protein References for LIFR Gene

Antibody Products

  • Abcam antibodies for LIFR

No data available for DME Specific Peptides for LIFR Gene

Domains & Families for LIFR Gene

Protein Domains for LIFR Gene

Suggested Antigen Peptide Sequences for LIFR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P42702

UniProtKB/Swiss-Prot:

LIFR_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • Belongs to the type I cytokine receptor family. Type 2 subfamily.
Domain:
  • 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.
  • Contains 6 fibronectin type-III domains.
Family:
  • Belongs to the type I cytokine receptor family. Type 2 subfamily.
genes like me logo Genes that share domains with LIFR: view

Function for LIFR Gene

Molecular function for LIFR Gene

GENATLAS Biochemistry:
leukemia inhibitory factor receptor
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for LIFR Gene

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 8999038
GO:0004924 contributes_to oncostatin-M receptor activity IDA 8999038
GO:0005127 ciliary neurotrophic factor receptor binding IPI 12707266
GO:0005515 protein binding IEA,IPI 16051226
genes like me logo Genes that share ontologies with LIFR: view
genes like me logo Genes that share phenotypes with LIFR: view

Human Phenotype Ontology for LIFR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LIFR Gene

MGI Knock Outs for LIFR:

Animal Model Products

CRISPR Products

miRNA for LIFR Gene

miRTarBase miRNAs that target LIFR

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LIFR Gene

Localization for LIFR Gene

Subcellular locations from UniProtKB/Swiss-Prot for LIFR Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LIFR Gene COMPARTMENTS Subcellular localization image for LIFR gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 3
cytosol 2
golgi apparatus 2
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for LIFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1915266
GO:0043235 receptor complex IDA 8999038
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with LIFR: view

Pathways & Interactions for LIFR Gene

genes like me logo Genes that share pathways with LIFR: view

SIGNOR curated interactions for LIFR Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for LIFR Gene

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 7957045
GO:0010656 negative regulation of muscle cell apoptotic process IEA --
GO:0014070 response to organic cyclic compound IEA --
GO:0019221 cytokine-mediated signaling pathway IDA 7957045
genes like me logo Genes that share ontologies with LIFR: view

Drugs & Compounds for LIFR Gene

(8) Drugs for LIFR Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for LIFR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LIFR: view

Transcripts for LIFR Gene

Unigene Clusters for LIFR Gene

Leukemia inhibitory factor receptor alpha:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LIFR Gene

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:
SP6: - -
SP7:

ExUns: 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for LIFR Gene

GeneLoc Exon Structure for
LIFR
ECgene alternative splicing isoforms for
LIFR

Expression for LIFR Gene

mRNA expression in normal human tissues for LIFR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LIFR Gene

This gene is overexpressed in Liver (37.3) and Cerebrospinal fluid (24.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LIFR Gene



NURSA nuclear receptor signaling pathways regulating expression of LIFR Gene:

LIFR

SOURCE GeneReport for Unigene cluster for LIFR Gene:

Hs.133421
genes like me logo Genes that share expression patterns with LIFR: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for LIFR Gene

Orthologs for LIFR Gene

This gene was present in the common ancestor of chordates.

Orthologs for LIFR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LIFR 34
  • 86.67 (n)
  • 82.01 (a)
LIFR 35
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LIFR 34
  • 88.12 (n)
  • 87.42 (a)
LIFR 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lifr 34
  • 78.51 (n)
  • 75.55 (a)
Lifr 16
Lifr 35
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LIFR 34
  • 99.7 (n)
  • 99.54 (a)
LIFR 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lifr 34
  • 78.32 (n)
  • 74.38 (a)
oppossum
(Monodelphis domestica)
Mammalia LIFR 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LIFR 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves LIFR 34
  • 64.01 (n)
  • 54.18 (a)
LIFR 35
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LIFR 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lifr 34
  • 55.65 (n)
  • 45.99 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32223 34
zebrafish
(Danio rerio)
Actinopterygii lifra 34
  • 43.49 (n)
  • 31.84 (a)
lifra 35
  • 27 (a)
OneToMany
lifrb 35
  • 23 (a)
OneToMany
Species where no ortholog for LIFR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LIFR Gene

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

Paralogs for LIFR Gene

Paralogs for LIFR Gene

(1) SIMAP similar genes for LIFR Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with LIFR: view

Variants for LIFR Gene

Sequence variations from dbSNP and Humsavar for LIFR Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs2303743 - 38,493,772(+) TGTTC(C/T)ATTTT reference, missense
VAR_025666 Stueve-Wiedemann syndrome (STWS)
rs3729734 - 38,527,206(-) CTCTA(C/T)ATGAT reference, missense
rs3729740 - 38,496,535(-) CATCA(A/G)ATGAG reference, missense
rs3110234 - 38,485,963(+) CTTAA(C/T)TTTTA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for LIFR Gene

Variant ID Type Subtype PubMed ID
dgv1594e212 CNV loss 25503493
dgv9729n54 CNV loss 21841781
esv22263 CNV loss 19812545
esv2667196 CNV deletion 23128226
esv3570081 CNV loss 25503493
esv3604761 CNV gain 21293372
esv3604768 CNV gain 21293372
nsv1021616 CNV loss 25217958
nsv1112871 CNV deletion 24896259
nsv1145058 CNV deletion 24896259
nsv471974 CNV novel sequence insertion 20440878
nsv516065 CNV gain 19592680
nsv597856 CNV gain+loss 21841781
nsv597857 CNV gain 21841781

Variation tolerance for LIFR Gene

Residual Variation Intolerance Score: 18.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.71; 83.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LIFR Gene

Human Gene Mutation Database (HGMD)
LIFR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LIFR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LIFR Gene

Disorders for LIFR Gene

MalaCards: The human disease database

(10) MalaCards diseases for LIFR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome
  • stuve-wiedemann syndrome
leukemia
cerebral meningioma
  • meningioma of cerebrum
somatization disorder
  • briquet's disorder
tetanus neonatorum
  • neonatal tetanus
- elite association - COSMIC cancer census association via MalaCards
Search LIFR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LIFR_HUMAN
  • 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.
  • 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. {ECO:0000269 PubMed:14740318}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LIFR

Genetic Association Database (GAD)
LIFR
Human Genome Epidemiology (HuGE) Navigator
LIFR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LIFR
genes like me logo Genes that share disorders with LIFR: view

No data available for Genatlas for LIFR Gene

Publications for LIFR Gene

  1. Leukemia inhibitory factor receptor is structurally related to the IL-6 signal transducer, gp130. (PMID: 1915266) Gearing D.P. … Beckmann M.P. (EMBO J. 1991) 2 3 4 22 65
  2. Structural organization of a full-length gp130/LIF-R cytokine receptor transmembrane complex. (PMID: 18775332) Skiniotis G. … Garcia K.C. (Mol. Cell 2008) 3 4 22 65
  3. Null leukemia inhibitory factor receptor (LIFR) mutations in Stueve- Wiedemann/Schwartz-Jampel type 2 syndrome. (PMID: 14740318) Dagoneau N. … Cormier-Daire V. (Am. J. Hum. Genet. 2004) 3 4 22 65
  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. (PMID: 9525740) Voz M.L. … Van de Ven W.J.M. (Oncogene 1998) 3 4 22 65
  5. Leukemia inhibitory factor receptor (LIFR) is detected as a novel suppressor gene of hepatocellular carcinoma using double-combination array. (PMID: 19733004) Okamura Y. … Nakao A. (Cancer Lett. 2010) 3 22 65

Products for LIFR Gene

Sources for LIFR Gene

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