Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3977
Gene name Gene Name - the full gene name approved by the HGNC.
LIF receptor subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LIFR
Synonyms (NCBI Gene) Gene synonyms aliases
CD118, LIF-R, SJS2, STWS, SWS
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p13.1
Summary Summary of gene provided in NCBI Entrez 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 c
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs3729732 G>A Uncertain-significance, pathogenic Coding sequence variant, stop gained
rs3729751 G>A,T Likely-pathogenic, likely-benign, uncertain-significance, benign Coding sequence variant, synonymous variant, missense variant
rs10637374 CACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACAC Likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity Intron variant
rs79040751 G>A,C,T Likely-pathogenic, uncertain-significance, benign-likely-benign, benign Coding sequence variant, missense variant
rs121912501 G>A,C Pathogenic Stop gained, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017803 hsa-miR-335-5p Microarray 18185580
MIRT022009 hsa-miR-128-3p Sequencing 20371350
MIRT023796 hsa-miR-1-3p Microarray 18668037
MIRT027384 hsa-miR-101-3p Sequencing 20371350
MIRT027645 hsa-miR-98-5p Microarray 19088304
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004896 Function Cytokine receptor activity IBA
GO:0004896 Function Cytokine receptor activity IEA
GO:0004897 Function Ciliary neurotrophic factor receptor activity IDA 12643274
GO:0004923 Function Leukemia inhibitory factor receptor activity IDA 8999038, 12643274
GO:0004923 Function Leukemia inhibitory factor receptor activity IDA 7957045
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
151443 6597 ENSG00000113594
Protein
UniProt ID P42702
Protein name Leukemia inhibitory factor receptor (LIF receptor) (LIF-R) (CD antigen CD118)
Protein 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.
PDB 3E0G , 8D6A , 8D74 , 8D7R , 8V29 , 8V2A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18207 LIFR_N 52 129 Leukemia inhibitory factor receptor N-terminal domain Domain
PF17971 LIFR_D2 131 244 Leukemia inhibitory factor receptor D2 domain Domain
PF00041 fn3 434 523 Fibronectin type III domain Domain
Sequence
MMDIYVCLKRPSWMVDNKRMRTASNFQWLLSTFILLYLMNQVNSQKKGAPHDLKCVTNNL
QVWNCSWKAPSGTGRGTDYEVCIENRSRSCYQLEKTSIKIPALSHGDYEITINSLHDFGS
STSKFTLNE
QNVSLIPDTPEILNLSADFSTSTLYLKWNDRGSVFPHRSNVIWEIKVLRKE
SMELVKLVTHNTTLNGKDTLHHWSWASDMPLECAIHFVEIRCYIDNLHFSGLEEWSDWSP
VKNI
SWIPDSQTKVFPQDKVILVGSDITFCCVSQEKVLSALIGHTNCPLIHLDGENVAIK
IRNISVSASSGTNVVFTTEDNIFGTVIFAGYPPDTPQQLNCETHDLKEIICSWNPGRVTA
LVGPRATSYTLVESFSGKYVRLKRAEAPTNESYQLLFQMLPNQEIYNFTLNAHNPLGRSQ
STILVNITEKVYPHTPTSFKVKDINSTAVKLSWHLPGNFAKINFLCEIEIKKSNSVQEQR
NVTIKGVENSSYLVALDKLNPYTLYTFRIRCSTETFWKWSKWS
NKKQHLTTEASPSKGPD
TWREWSSDGKNLIIYWKPLPINEANGKILSYNVSCSSDEETQSLSEIPDPQHKAEIRLDK
NDYIISVVAKNSVGSSPPSKIASMEIPNDDLKIEQVVGMGKGILLTWHYDPNMTCDYVIK
WCNSSRSEPCLMDWRKVPSNSTETVIESDEFRPGIRYNFFLYGCRNQGYQLLRSMIGYIE
ELAPIVAPNFTVEDTSADSILVKWEDIPVEELRGFLRGYLFYFGKGERDTSKMRVLESGR
SDIKVKNITDISQKTLRIADLQGKTSYHLVLRAYTDGGVGPEKSMYVVTKENSVGLIIAI
LIPVAVAVIVGVVTSILCYRKREWIKETFYPDIPNPENCKALQFQKSVCEGSSALKTLEM
NPCTPNNVEVLETRSAFPKIEDTEIISPVAERPEDRSDAEPENHVVVSYCPPIIEEEIPN
PAADEAGGTAQVIYIDVQSMYQPQAKPEEEQENDPVGGAGYKPQMHLPINSTVEDIAAEE
DLDKTAGYRPQANVNTWNLVSPDSPRSIDSNSEIVSFGSPCSINSRQFLIPPKDEDSPKS
NGGGWSFTNFFQNKPND
Sequence length 1097
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
Signaling pathways regulating pluripotency of stem cells
JAK-STAT signaling pathway
  IL-6-type cytokine receptor ligand interactions
RUNX1 regulates transcription of genes involved in interleukin signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital anomalies of kidney and urinary tract Congenital anomaly of kidney and urinary tract rs1114167358 N/A
Stuve-Wiedemann syndrome stuve-wiedemann syndrome rs199775294, rs863225047, rs886042160, rs1554020702, rs779829941, rs1580117891, rs1561159768, rs121912501, rs1744257909, rs1430793861, rs1745753552, rs1561179853 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Connective Tissue Disease Connective tissue disorder N/A N/A ClinVar
Glioblastoma Glioblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37543671
Adenoma Pleomorphic Associate 34390320
Breast Neoplasms Inhibit 23216692
Breast Neoplasms Associate 25962054, 33371806, 34477239, 37927213
Carcinogenesis Associate 25749520
Carcinoma Hepatocellular Associate 25749520, 34699986
Carcinoma Pancreatic Ductal Associate 36359879
Colorectal Neoplasms Inhibit 21617854
Colorectal Neoplasms Associate 23579219, 35974349
COVID 19 Associate 33260035