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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
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
Hyper-IgE recurrent infection syndrome 4, autosomal recessive Pathogenic rs1580809257, rs1580801731 RCV000791251
RCV000791252
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyper-IgE recurrent infection syndrome 4A, autosomal dominant Pathogenic rs2111585708, rs2111587824, rs2111585826 RCV001838855
RCV001838856
RCV001838858
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 94 with autoinflammation and dysmorphic facies Pathogenic rs2111774223 RCV001838854
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stuve-Wiedemann syndrome Pathogenic rs1580817729, rs1579734448 RCV000984613
RCV000984621
★★★★☆
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
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT COMBINED IMMUNODEFICIENCY DUE TO PARTIAL IL6ST DEFICIENCY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
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
Acute leukemia Leukemia BEFREE 7919380
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 7919380, 8907269
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 8641372
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18060032
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 20008143
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 27821646
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 28130546, 29956755
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 7919380
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 10480339, 29207075
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 29172719
★☆☆☆☆
Found in Text Mining only