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Aliases for LIFR Gene

Aliases for LIFR Gene

  • Leukemia Inhibitory Factor Receptor Alpha 2 3
  • Leukemia Inhibitory Factor Receptor 2 3
  • CD118 Antigen 3 4
  • LIF Receptor 3 4
  • LIF-R 3 4
  • SJS2 3 6
  • STWS 3 6
  • SWS 3 6
  • CD118 3

External Ids for LIFR Gene

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 adenoma. Among its related pathways are GPCR Pathway and Akt Signaling. GO annotations related to this gene include growth factor binding and ciliary neurotrophic factor receptor activity. An important paralog of this gene is CSF3R.

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

Genomic Location for LIFR Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LIFR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LIFR Gene

Regulatory Elements 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

Proteomics data for LIFR Gene at MOPED

Post-translational modifications for LIFR Gene

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

Other Protein References for LIFR Gene

No data available for DME Specific Peptides for LIFR Gene

Domains for LIFR Gene

Gene Families for LIFR Gene

HGNC:
  • CD :CD molecules
  • FN3 :Fibronectin type III domain containing
IUPHAR :

Protein Domains for LIFR Gene

UniProtKB/Swiss-Prot:

LIFR_HUMAN
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding:
    • P42702
  • The box 1 motif is required for JAK interaction and/or activation:
    • P42702
  • Contains 6 fibronectin type-III domains.:
    • P42702
Family:
  • Belongs to the type I cytokine receptor family. Type 2 subfamily.:
    • P42702
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 12643274
GO:0004924 contributes_to oncostatin-M receptor activity IDA 8999038
GO:0005127 ciliary neurotrophic factor receptor binding IPI 12707266
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with LIFR: view
genes like me logo Genes that share phenotypes with LIFR: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for LIFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 1915266
GO:0043235 receptor complex IDA 12643274
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with LIFR: view

Pathways for LIFR Gene

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

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:0019221 cytokine-mediated signaling pathway IDA 7957045
GO:0034097 response to cytokine IDA 8999038
GO:0038165 oncostatin-M-mediated signaling pathway IMP 8999038
genes like me logo Genes that share ontologies with LIFR: view

Compounds for LIFR Gene

(12) Novoseek inferred chemical compound relationships for LIFR Gene

Compound -log(P) Hits PubMed IDs
gp 130 96.3 181
acth 42.2 5
tyrosine 41.9 12
cholesterol 4.95 1
oligonucleotide 0 1
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:

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LIFR Gene

SOURCE GeneReport for Unigene cluster for LIFR Gene Hs.133421

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

Orthologs for LIFR Gene

This gene was present in the common ancestor of chordates.

Orthologs for LIFR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LIFR 36
  • 99.7 (n)
  • 99.54 (a)
LIFR 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LIFR 36
  • 86.67 (n)
  • 82.01 (a)
LIFR 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LIFR 36
  • 88.12 (n)
  • 87.42 (a)
LIFR 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lifr 36
  • 78.51 (n)
  • 75.55 (a)
Lifr 16
Lifr 37
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LIFR 37
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LIFR 37
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lifr 36
  • 78.32 (n)
  • 74.38 (a)
chicken
(Gallus gallus)
Aves LIFR 36
  • 64.01 (n)
  • 54.18 (a)
LIFR 37
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LIFR 37
  • 48 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32223 36
tropical clawed frog
(Silurana tropicalis)
Amphibia lifr 36
  • 55.65 (n)
  • 45.99 (a)
zebrafish
(Danio rerio)
Actinopterygii lifra 36
  • 43.49 (n)
  • 31.84 (a)
lifra 37
  • 27 (a)
OneToMany
lifrb 37
  • 23 (a)
OneToMany
Species with no ortholog for LIFR:
  • 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

Selected 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 MAF
rs1005017 -- 38,481,233(-) CTCAT(A/G)TGTAT utr-variant-3-prime
rs1037033 -- 38,512,052(+) TTCCA(C/T)ACAAT intron-variant
rs1042795 -- 38,480,635(-) ATTGG(A/T)TTTCG utr-variant-3-prime
rs1042798 -- 38,479,981(-) TTAGG(A/T)TCTCT utr-variant-3-prime
rs1042799 -- 38,479,980(-) TAGGT(A/T)CTCTG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv516065 CNV Gain 19592680
esv2667196 CNV Deletion 23128226
esv22263 CNV Loss 19812545

Relevant External Links for LIFR Gene

HapMap Linkage Disequilibrium report
LIFR
Human Gene Mutation Database (HGMD)
LIFR

Disorders for LIFR Gene

(1) OMIM Diseases for LIFR Gene (151443)

UniProtKB/Swiss-Prot

LIFR_HUMAN
  • 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.
  • 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.

(18) Novoseek inferred disease relationships for LIFR Gene

Disease -log(P) Hits PubMed IDs
leukemia 87.6 117
stuve-wiedemann syndrome 84.8 1
carcinoma embryonal 36.4 1
choriocarcinoma 24.6 1
prolactinoma 21.7 2

Relevant External Links for LIFR

Genetic Association Database (GAD)
LIFR
Human Genome Epidemiology (HuGE) Navigator
LIFR
genes like me logo Genes that share disorders with LIFR: view

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 23
  2. 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 23
  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 23
  4. 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 23
  5. Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. (PMID: 17436251) Dagoneau N. … Cormier-Daire V. (Am. J. Hum. Genet. 2007) 3 23

Products for LIFR Gene

Sources for LIFR Gene

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