IL6ST Chromosome 5
Interleukin 6 cytokine family signal transducer
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What This Gene Does
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 receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing|Interleukin receptors"
Locus Type
gene with protein product
Location
5q11.2
Ensembl
ENSG00000134352
Associated Conditions (8)
IL6ST-related disorder
Stuve-Wiedemann syndrome
Hyper-IgE recurrent infection syndrome 4
autosomal recessive
Stuve-Wiedemann syndrome 2
Hyper-IgE recurrent infection syndrome 4A
autosomal dominant
Immunodeficiency 94 with autoinflammation and dysmorphic facies
Key Variants
RS141500365
Conflicting classifications of pathogenicity
Health Risk
RS142901689
Conflicting classifications of pathogenicity
IL6ST-related disorder, IL6ST-related disorder
Health Risk
RS145020363
Conflicting classifications of pathogenicity
Health Risk
RS145618093
Conflicting classifications of pathogenicity
Health Risk
RS148372700
Conflicting classifications of pathogenicity
Health Risk
RS1752049275
Likely pathogenic
Health Risk
RS2533481097
Likely pathogenic
Health Risk
RS1228531384
Pathogenic
Health Risk
RS1579734448
Pathogenic
Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
Health Risk
RS1580801731
Pathogenic
Hyper-IgE recurrent infection syndrome 4, autosomal recessive, Hyper-IgE recurrent infection syndrome 4
Health Risk
RS1580809257
Pathogenic
Hyper-IgE recurrent infection syndrome 4, autosomal recessive, Hyper-IgE recurrent infection syndrome 4
Health Risk
RS1580817729
Pathogenic
Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome 2, Stuve-Wiedemann syndrome
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141500365 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142901689 | Health Risk | Conflicting classifications of pathogenicity | IL6ST-related disorder, IL6ST-related disorder |
| RS145020363 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145618093 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148372700 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1752049275 | Health Risk | Likely pathogenic | — |
| RS2533481097 | Health Risk | Likely pathogenic | — |
| RS1228531384 | Health Risk | Pathogenic | — |
| RS1579734448 | Health Risk | Pathogenic | Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome |
| RS1580801731 | Health Risk | Pathogenic | Hyper-IgE recurrent infection syndrome 4, autosomal recessive, Hyper-IgE recurrent infection syndrome 4 |
| RS1580809257 | Health Risk | Pathogenic | Hyper-IgE recurrent infection syndrome 4, autosomal recessive, Hyper-IgE recurrent infection syndrome 4 |
| RS1580817729 | Health Risk | Pathogenic | Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome 2, Stuve-Wiedemann syndrome |
| RS2111585708 | Health Risk | Pathogenic | Hyper-IgE recurrent infection syndrome 4A, autosomal dominant, Hyper-IgE recurrent infection syndrome 4A |
| RS2111585826 | Health Risk | Pathogenic | Hyper-IgE recurrent infection syndrome 4A, autosomal dominant, Hyper-IgE recurrent infection syndrome 4A |
| RS2111587824 | Health Risk | Pathogenic | Hyper-IgE recurrent infection syndrome 4A, autosomal dominant, Hyper-IgE recurrent infection syndrome 4A |
| RS2111677373 | Health Risk | Pathogenic | Stuve-Wiedemann syndrome 2, Stuve-Wiedemann syndrome 2 |
| RS2111774223 | Health Risk | Pathogenic | Immunodeficiency 94 with autoinflammation and dysmorphic facies, Immunodeficiency 94 with autoinflammation and dysmorphic facies |
| RS2533477589 | Health Risk | Pathogenic | — |
| RS2533477700 | Health Risk | Pathogenic | — |
| RS2533484139 | Health Risk | Pathogenic | — |
| RS776023104 | Health Risk | Pathogenic | — |