IL6
Homo sapiens
Gene Name: interleukin 6
Aliases: BSF-2, BSF2, CDF, HGF, HSF, IFN-beta-2, IFNB2, IL-6
Chromosome No: 7
Chromosome Band: 7p15.3
Genetic Category: Functional
Aliases: BSF-2, BSF2, CDF, HGF, HSF, IFN-beta-2, IFNB2, IL-6
Chromosome No: 7
Chromosome Band: 7p15.3
Genetic Category: Functional
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 0
Associated CNVs: 7
Evidence score: null
ASD Reports: 6
Recent Reports: 1
Annotated variants: 0
Associated CNVs: 7
Evidence score: null
Associated Disorders: |
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Relevance to Autism
IL-6 has been shown to mediate behavioral abnormalities in offspring induced by maternal immune activation (Smith et al., 2007). Differential expression of IL-6 has also been observed in blood and brain tissue from ASD cases compared to controls in multiple studies (Li et al., 2009; Ashwood et al., 2011; Wei et al., 2011; Ricci et al., 2013).
Molecular Function
This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Maternal immune activation alters fetal brain development through interleukin-6.
Support
Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome.
ASD
Support
IL-6 is increased in the cerebellum of autistic brain and alters neural cell adhesion, migration and synaptic formation.
ASD
Recent Recommendation
Interleukin-6 Regulates Adult Neural Stem Cell Numbers during Normal andAbnormal Post-natal Development.