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Aliases for LIFR Gene

Aliases for LIFR Gene

  • LIF Receptor Alpha 2 3 5
  • 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
  • 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 (LIF Receptor Alpha) is a Protein Coding gene. Diseases associated with LIFR include Stuve-Wiedemann Syndrome/Schwartz-Jampel Type 2 Syndrome and Congenital Anomalies Of Kidney And Urinary Tract. Among its related pathways are Akt Signaling and Nanog in Mammalian ESC Pluripotency. 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

Additional gene information for LIFR Gene

No data available for CIViC summary , 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
GH05H039167 1.4 Ensembl ENCODE dbSUPER 13 -559.2 -559186 0 HDAC1 ATF1 TBL1XR1 ARNT ZBTB40 CHAMP1 TCF12 ZNF766 GATA2 ATF7 FYB1 LINC01265 LIFR OSMR GOLGA5P1 GC05M039106
GH05H038555 1 ENCODE 16.7 +51.5 51520 2 ARID4B SIN3A DMAP1 GLI4 ZNF2 YY1 ZNF766 GLIS2 ELK1 KLF7 LIFR LOC105374732 EGFLAM-AS1 ENSG00000248234 EGFLAM-AS2 EGFLAM LIFR-AS1 MIR3650
GH05H038607 1.2 Ensembl ENCODE 13.7 +0.6 601 1 TBL1XR1 FEZF1 RAD21 RFX5 TCF12 GATA2 RCOR1 FOS DEK CEBPB LINC01265 LIFR OSMR LIFR-AS1 GC05P038579
GH05H038829 1.2 ENCODE dbSUPER 13 -222.8 -222797 3 FOXA2 MLX ARID4B DMAP1 ATF7 ZHX2 PPARG KAT8 NFIL3 SSRP1 LINC01265 LIFR OSMR OSMR-AS1 LOC105374733
GH05H038670 0.9 ENCODE 16.1 -63.7 -63719 2 FOXA2 FEZF1 ZNF366 ZSCAN5C SCRT2 FOS SMARCC1 CEBPB TSHZ1 ZNF398 LIFR ENSG00000251189
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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 isoforms=64, posLast=8585, isoforms=131, isoforms=143, isoforms=191, posLast=243243, posLast=303303, isoforms=390, isoforms=407, posLast=426426, isoforms=445, isoforms=481, isoforms=489, isoforms=572, isoforms=652, posLast=663663, isoforms=680, posLast=729729, and isoforms=787
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for LIFR

Protein Products

  • Abcam proteins for LIFR

Assay Products

  • Cloud-Clone Corp. Assay Kits for LIFR

No data available for DME Specific Peptides for LIFR Gene

Domains & Families for LIFR Gene

Gene Families for LIFR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

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.
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:0004896 cytokine receptor activity IEA --
GO:0004897 contributes_to ciliary neurotrophic factor receptor activity IDA 12643274
GO:0004923 contributes_to leukemia inhibitory factor receptor activity TAS,IDA 8999038
GO:0004924 contributes_to oncostatin-M receptor activity IDA 8999038
GO:0005127 ciliary neurotrophic factor receptor binding IPI 12707266
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

  • Applied Biological Materials Clones for LIFR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LIFR gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
cytosol 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LIFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1915266
GO:0016020 membrane IEA --
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:0001959 regulation of cytokine-mediated signaling pathway TAS --
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
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

  • Applied Biological Materials Clones for LIFR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for LIFR Gene

  • Nervous system(3.6)
  • Liver(2.2)
  • Lung(2.2)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LIFR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lacrimal apparatus
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • stomach
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
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
chimpanzee
(Pan troglodytes)
Mammalia LIFR 33 34
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia LIFR 33 34
  • 88.12 (n)
cow
(Bos Taurus)
Mammalia LIFR 33 34
  • 86.67 (n)
mouse
(Mus musculus)
Mammalia Lifr 33 16 34
  • 78.51 (n)
rat
(Rattus norvegicus)
Mammalia Lifr 33
  • 78.32 (n)
oppossum
(Monodelphis domestica)
Mammalia LIFR 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LIFR 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves LIFR 33 34
  • 64.01 (n)
lizard
(Anolis carolinensis)
Reptilia LIFR 34
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lifr 33
  • 55.65 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32223 33
zebrafish
(Danio rerio)
Actinopterygii lifra 33 34
  • 43.49 (n)
lifrb 34
  • 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
VAR_025666 Stueve-Wiedemann syndrome (STWS) [MIM:601559]
VAR_036166 A colorectal cancer sample
rs121912501 Pathogenic 38,496,478(-) AGATA(C/T)GACTT reference, stop-gained
rs863225047 Pathogenic 38,489,243(-) CAGCT(C/G)CCATT reference, missense
rs886041545 Pathogenic 38,528,729(-) TGAAA(-/A)CAGGT reference, frameshift-variant

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: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome
  • sws
congenital anomalies of kidney and urinary tract
  • congenital anomalies of kidney and urinary tract, susceptibility to
leukemia
somatization disorder
  • briquet's disorder
cerebral meningioma
  • meningioma of cerebrum
- 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 DP … Beckmann MP (The EMBO journal 1991) 2 3 4 22 60
  2. Structural organization of a full-length gp130/LIF-R cytokine receptor transmembrane complex. (PMID: 18775332) Skiniotis G … Garcia KC (Molecular cell 2008) 3 4 22 60
  3. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. (PMID: 14740318) Dagoneau N … Cormier-Daire V (American journal of human genetics 2004) 3 4 22 60
  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 ML … Van de Ven WJ (Oncogene 1998) 3 4 22 60
  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 letters 2010) 3 22 60

Products for LIFR Gene

Sources for LIFR Gene

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