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 th... See more...

Aliases for LIFR Gene

Aliases for LIFR Gene

  • LIF Receptor Subunit Alpha 2 3 5
  • Leukemia Inhibitory Factor Receptor 2 3 4
  • Leukemia Inhibitory Factor Receptor Alpha 2 3
  • LIF Receptor Alpha 2 3
  • CD118 Antigen 3 4
  • CD118 2 3
  • LIF-R 3 4
  • LIF Receptor 4
  • SJS2 3
  • STWS 3
  • LIFR 5
  • 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 two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018]

GeneCards Summary for LIFR Gene

LIFR (LIF Receptor Subunit Alpha) is a Protein Coding gene. Diseases associated with LIFR include Stuve-Wiedemann Syndrome and Cakut. Among its related pathways are Interleukin-6 family signaling and CNTF Signaling. Gene Ontology (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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LIFR Gene

Genomics for LIFR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LIFR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J038552 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 267.1 +53.0 52959 5.3 EZH2 ZNF600 ZNF580 ZNF10 ZSCAN16 POLR2A ZIC2 ZBTB10 YY1 NONO LIFR LIFR-AS1 ENSG00000251257 EGFLAM-AS1 ENSG00000248234 EGFLAM-AS2 EGFLAM MIR3650 lnc-RICTOR-6
GH05J038594 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 256.3 +12.7 12736 1.6 ZNF600 NFE2 GLIS1 LIFR LIFR-AS1 HSALNG0041283 lnc-LIFR-6 EGFLAM
GH05J038607 Enhancer 1 Ensembl ENCODE 263.6 +0.5 494 1.7 NCOR1 ZSCAN16 NFIC CEBPB DEK FEZF1 MAX ZNF513 EP300 RAD21 LIFR lnc-LIFR-6 LINC01265 OSMR LIFR-AS1 HSALNG0041283 EGFLAM
GH05J038606 Enhancer 0.3 Ensembl 250.7 +1.8 1753 0.4 PRDM1 LIFR lnc-LIFR-6 HSALNG0041283 LIFR-AS1 EGFLAM
GH05J038610 Enhancer 0.2 Ensembl 250.7 -1.4 -1447 0.8 LIFR lnc-LIFR-6 piR-61580-511 HSALNG0041283 LIFR-AS1 OSMR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LIFR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LIFR

Top Transcription factor binding sites by QIAGEN in the LIFR gene promoter:
  • AREB6
  • C/EBPbeta
  • GATA-2
  • GR
  • GR-alpha
  • Pbx1a
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox5
  • STAT3

Genomic Locations for LIFR Gene

Latest Assembly
chr5:38,474,668-38,608,354
(GRCh38/hg38)
Size:
133,687 bases
Orientation:
Minus strand

Previous Assembly
chr5:38,474,770-38,595,507
(GRCh37/hg19 by Entrez Gene)
Size:
120,738 bases
Orientation:
Minus strand

chr5:38,475,065-38,608,456
(GRCh37/hg19 by Ensembl)
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 Asn64, Asn85, Asn131, Asn143, Asn191, Asn243, Asn303, Asn390, Asn407, Asn426, Asn445, Asn481, Asn489, Asn572, Asn652, Asn663, Asn680, Asn729, and Asn787
  • Modification sites at PhosphoSitePlus

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 intracellular proteins
  • Predicted membrane proteins

Protein Domains for LIFR Gene

InterPro:
Blocks:
  • Long hematopoietin receptor, gp130 family 2

Suggested Antigen Peptide Sequences for LIFR Gene

GenScript: Design optimal peptide antigens:
  • Leukemia inhibitory factor receptor (LIFR_HUMAN)

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

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.
GENATLAS Biochemistry:
leukemia inhibitory factor receptor

Phenotypes From GWAS Catalog for LIFR Gene

Gene Ontology (GO) - Molecular Function for LIFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IBA 21873635
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 IBA,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:
  • Lifr Lifr<tm1b(EUCOMM)Hmgu>
  • Lifr Lifr<tm1Cgre>
  • Lifr Lifr<tm1Imx>

miRNA for LIFR Gene

miRTarBase miRNAs that target LIFR

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LIFR

Clone products for research

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
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 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LIFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1915266
GO:0009897 external side of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LIFR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LIFR Gene

Pathways & Interactions for LIFR Gene

PathCards logo

SuperPathways for LIFR Gene

SuperPathway Contained pathways
1 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
.38
2 ERK Signaling
.61
.61
.58
.51
.49
3 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
4 PEDF Induced Signaling
.47
.46
5 Actin Nucleation by ARP-WASP Complex
.66
.66
.41
genes like me logo Genes that share pathways with LIFR: view

Pathways by source for LIFR Gene

3 GeneGo (Thomson Reuters) pathways for LIFR Gene
  • Development CNTF receptor signaling
  • Immune response Oncostatin M signaling via MAPK in human cells
  • Immune response_Oncostatin M signaling via JAK-Stat in human cells
35 Qiagen pathways for LIFR Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR

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 IEA,IDA 7957045
GO:0019221 cytokine-mediated signaling pathway IDA,TAS --
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

mRNA/cDNA for LIFR Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LIFR

Clone products for research

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

Expression for LIFR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for LIFR Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LIFR

SOURCE GeneReport for Unigene cluster for LIFR Gene:

Hs.133421

Evidence on tissue expression from TISSUES for LIFR Gene

  • Nervous system(3.7)
  • Lung(2.9)
  • Liver(2.6)
  • Muscle(2.4)
  • Heart(2.4)
  • Kidney(2.3)
  • Bone marrow(2.3)
  • Spleen(2.2)
  • Lymph node(2.2)
  • Intestine(2.1)
  • Thyroid gland(2.1)
  • Skin(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
Regions:
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 for research

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 29 30
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LIFR 29 30
  • 88.12 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LIFR 29 30
  • 86.67 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lifr 29 16 30
  • 78.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lifr 29
  • 78.32 (n)
Oppossum
(Monodelphis domestica)
Mammalia LIFR 30
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LIFR 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LIFR 29 30
  • 64.01 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LIFR 30
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lifr 29
  • 55.65 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32223 29
Zebrafish
(Danio rerio)
Actinopterygii lifra 29 30
  • 43.49 (n)
OneToMany
lifrb 30
  • 23 (a)
OneToMany
Species where no ortholog for LIFR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for LIFR: view image
Alliance of Genome Resources:
Additional Orthologs for LIFR

Paralogs for LIFR Gene

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

  • LIFR_HUMAN
  • D6RF33_HUMAN
  • D6RJ94_HUMAN
  • H0YAF2_HUMAN
genes like me logo Genes that share paralogs with LIFR: view

Variants for LIFR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LIFR Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1009697 Uncertain Significance: not provided 38,502,777(-) A/G
NM_001127671.2(LIFR):c.1460T>C (p.Val487Ala)
MISSENSE
1029587 Uncertain Significance: Stüve-Wiedemann syndrome 38,510,718(-) C/A
NM_001127671.2(LIFR):c.737G>T (p.Trp246Leu)
MISSENSE
1046143 Uncertain Significance: not provided 38,481,918(-) GTTC/G
NM_001127671.2(LIFR):c.2962GAA[2] (p.Glu990del)
INFRAME_DELETION
1046924 Uncertain Significance: not provided 38,496,562(-) G/C
NM_001127671.2(LIFR):c.1705C>G (p.Leu569Val)
MISSENSE
834053 Likely Pathogenic: Stüve-Wiedemann syndrome 38,485,872(-) G/C
NM_001127671.2(LIFR):c.2444C>G (p.Thr815Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LIFR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for LIFR Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for LIFR Gene

MalaCards: The human disease database

(18) MalaCards diseases for LIFR Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
stuve-wiedemann syndrome
  • stws
cakut
  • congenital anomalies of the kidney and urinary tract
hemophagocytic lymphohistiocytosis, familial, 2
  • fhl2
hemophagocytic lymphohistiocytosis, familial, 1
  • fhl1
leukemia
  • leukemias
- 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
  • 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 variants 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.

Additional Disease Information for LIFR

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LIFR: view

No data available for Genatlas for LIFR Gene

Publications for LIFR Gene

  1. 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 72
  2. 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
  3. 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
  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
  5. Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations. (PMID: 28334964) Kosfeld A … Weber RG (Human molecular genetics 2017) 3 72

Products for LIFR Gene

  • Boster Bio Antibodies for LIFR
  • Boster Bio ELISA Kits for LIFR

Sources for LIFR Gene