Gene Gene information from NCBI Gene database.
Entrez ID 3572
Gene name Interleukin 6 cytokine family signal transducer
Gene symbol IL6ST
Synonyms (NCBI Gene)
CD130CDW130GP130HIES4HIES4AHIES4BIL-6RBIMD94STWS2sGP130
Chromosome 5
Chromosome location 5q11.2
Summary The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs1580801731 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant, intron variant, 3 prime UTR variant
rs1580809257 T>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs1580817729 G>A Pathogenic 5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
1341
miRTarBase ID miRNA Experiments Reference
MIRT016213 hsa-miR-590-3p Sequencing 20371350
MIRT017169 hsa-miR-335-5p Microarray 18185580
MIRT024434 hsa-miR-215-5p Microarray 19074876
MIRT026283 hsa-miR-192-5p Microarray 19074876
MIRT040397 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
86
GO ID Ontology Definition Evidence Reference
GO:0002675 Process Positive regulation of acute inflammatory response IC 8999038
GO:0002821 Process Positive regulation of adaptive immune response IMP 14764690
GO:0004896 Function Cytokine receptor activity IBA
GO:0004896 Function Cytokine receptor activity IEA
GO:0004897 Function Ciliary neurotrophic factor receptor activity IDA 12643274
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600694 6021 ENSG00000134352
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P40189
Protein name Interleukin-6 receptor subunit beta (IL-6 receptor subunit beta) (IL-6R subunit beta) (IL-6R-beta) (IL-6RB) (CDw130) (Interleukin-6 signal transducer) (Membrane glycoprotein 130) (gp130) (Oncostatin-M receptor subunit alpha) (CD antigen CD130)
Protein function Signal-transducing molecule (PubMed:2261637). The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST for initiating signal transmission. Binding of IL6 to IL6R induces IL6ST homodimerization and formation of a high-a
PDB 1BJ8 , 1BQU , 1I1R , 1P9M , 1PVH , 3L5H , 3L5I , 3L5J , 7U7N , 8D6A , 8D74 , 8D7R , 8D82 , 8D85 , 8DPS , 8DPT , 8DPU , 8UPA , 8V29 , 8V2A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06328 Lep_receptor_Ig 26 112 Ig-like C2-type domain Domain
PF09240 IL6Ra-bind 131 218 Interleukin-6 receptor alpha chain, binding Domain
PF00041 fn3 223 311 Fibronectin type III domain Domain
PF00041 fn3 518 605 Fibronectin type III domain Domain
Tissue specificity TISSUE SPECIFICITY: Found in all the tissues and cell lines examined (PubMed:2261637). Expression not restricted to IL6 responsive cells (PubMed:2261637). {ECO:0000269|PubMed:2261637}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed in blood serum (at protein
Sequence
MLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHV
NANYIVWKTNHFTIPKEQYTIINRTASSVTFTDIASLNIQLTCNILTFGQLE
QNVYGITI
ISGLPPEKPKNLSCIVNEGKKMRCEWDGGRETHLETNFTLKSEWATHKFADCKAKRDTPT
SCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVY
KVKPNPPHNLSVINSEELSSIL
KLTWTNPSIKSVIILKYNIQYRTKDASTWSQIPPEDTASTRSSFTVQDLKPFTEYVFRIR
CMKEDGKGYWS
DWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLVWKTLPPFEAN
GKILDYEVTLTRWKSHLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACD
FQATHPVMDLKAFPKDNMLWVEWTTPRESVKKYILEWCVLSDKAPCITDWQQEDGTVHRT
YLRGNLAESKCYLITVTPVYADGPGSPESIKAYLKQAPPSKGPTVRTKKVGKNEAVLEWD
QLPVDVQNGFIRNYTIFYRTIIGNETAVNVDSSHTEYTLSSLTSDTLYMVRMAAYTDEGG
KDGPE
FTFTTPKFAQGEIEAIVVPVCLAFLLTTLLGVLFCFNKRDLIKKHIWPNVPDPSK
SHIAQWSPHTPPRHNFNSKDQMYSDGNFTDVSVVEIEANDKKPFPEDLKSLDLFKKEKIN
TEGHSSGIGGSSCMSSSRPSISSSDENESSQNTSSTVQYSTVVHSGYRHQVPSVQVFSRS
ESTQPLLDSEERPEDLQLVDHVDGGDGILPRQQYFKQNCSQHESSPDISHFERSKQVSSV
NEEDFVRLKQQISDHISQSCGSGQMKMFQEVSAADAFGPGTEGQVERFETVGMEAATDEG
MPKSYLPQTVRQGGYMPQ
Sequence length 918
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Signaling pathways regulating pluripotency of stem cells
JAK-STAT signaling pathway
Th17 cell differentiation
Kaposi sarcoma-associated herpesvirus infection
Coronavirus disease - COVID-19
Pathways in cancer
Viral carcinogenesis
  Interleukin-6 signaling
MAPK3 (ERK1) activation
MAPK1 (ERK2) activation
IL-6-type cytokine receptor ligand interactions
Interleukin-35 Signalling
Interleukin-27 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
56
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hyper-IgE recurrent infection syndrome 4, autosomal recessive Pathogenic rs1580809257, rs1580801731 RCV000791251
RCV000791252
Hyper-IgE recurrent infection syndrome 4A, autosomal dominant Pathogenic rs2111585708, rs2111587824, rs2111585826 RCV001838855
RCV001838856
RCV001838858
Immunodeficiency 94 with autoinflammation and dysmorphic facies Pathogenic rs2111774223 RCV001838854
Stuve-Wiedemann syndrome Pathogenic rs1580817729, rs1579734448 RCV000984613
RCV000984621
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs371822093 RCV005926298
GP130-deficient hyper-IgE syndrome Uncertain significance rs1381682599, rs1580801563 RCV000787960
RCV000787961
Hyper-IgE recurrent infection syndrome 1, autosomal dominant Uncertain significance rs1750932254 RCV001255608
IL6ST-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance rs142901689, rs150242954, rs2228044, rs61755738, rs34417936, rs2228046, rs2228043, rs3730291, rs2228045, rs1063560, rs368730281, rs200977907, rs371238130, rs146333104, rs146696658
View all (9 more)
RCV003908581
RCV003908587
RCV003983889
RCV003908783
RCV003966098
RCV003980615
RCV003980564
RCV003921172
RCV003966101
RCV003980634
RCV004756313
RCV003933579
RCV003913647
RCV003950940
RCV003896224
RCV004756460
RCV003984341
RCV003418788
RCV003422470
RCV003393221
RCV003902009
RCV003917391
RCV003924465
RCV003935825
RCV003910638
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 36003311
Adenoma Liver Cell Associate 19020503, 28323122
Adrenal Gland Neoplasms Associate 12917504
AIDS related Kaposi sarcoma Associate 7657807
Arthritis Rheumatoid Associate 20604932, 35140805
Asthma Associate 31945409, 33626956, 33691249
Atherosclerosis Inhibit 31932740
Atherosclerosis Associate 39216780
Autoimmune Diseases Associate 34149710
Behcet Syndrome Associate 35455984