Gene Gene information from NCBI Gene database.
Entrez ID 3977
Gene name LIF receptor subunit alpha
Gene symbol LIFR
Synonyms (NCBI Gene)
CD118LIF-RSJS2STWSSWS
Chromosome 5
Chromosome location 5p13.1
Summary 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.
22
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.
520
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
151443 6597 ENSG00000113594
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
35
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cervical cancer Likely pathogenic rs758055364 RCV005925565
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital anomaly of kidney and urinary tract Pathogenic rs1114167358 RCV000491563
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stuve-Wiedemann syndrome Likely pathogenic; Pathogenic rs201621131, rs765622323, rs199775294, rs863225047, rs2531071168, rs886042160, rs121912501, rs1430793861, rs1561179853, rs1554020702, rs779829941, rs1580117891, rs1561159768, rs1744257909, rs1745753552
View all (1 more)
RCV005614531
RCV001831386
RCV000169665
RCV000201229
RCV005616534
View all (11 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Likely pathogenic; Pathogenic rs2112457636, rs765622323, rs2112564371, rs2531047728, rs1746736672, rs765602627, rs758055364, rs199775294, rs786205647, rs747837301, rs2531043713, rs2530954242, rs2531071182, rs886041545, rs886042160
View all (11 more)
RCV003147630
RCV005395004
RCV003147672
RCV002282591
RCV002490068
View all (21 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAKUT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ACTH-Secreting Pituitary Adenoma Pituitary adenoma BEFREE 15372367
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31301086
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 15372367
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 10480339, 25915540
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 17477816
★☆☆☆☆
Found in Text Mining only
Asthma Asthma HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23001183, 23216692, 27622335, 29603493, 30177834, 31557600
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23216692 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25962054, 33371806, 34477239, 37927213 Associate
★☆☆☆☆
Found in Text Mining only
Cakut Congenital anomalies of kidney and urinary tract BEFREE 28334964
★★☆☆☆
Found in Text Mining + Unknown/Other Associations