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FLASH GENE

Symbol

IL12B

contributors: mct - updated : 20-09-2015

HGNC name	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)
HGNC id	5970

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

IMD29

Susceptibility

to asthma late onset of type 1 diabetes to psoriasis to cerebral malaria (CM) to cervical cancer to Takayasu arteritis to inflammatory bowel disease (IBD) to Tuberculosis

Variant & Polymorphism other	polymorphism in the promoter associated with severity of atopic asthma and non atopic in children
	allele C of the 3'UTR associate with late onset of type 1 diabetes
	highly significant association with an IL12B 3-untranslated-region SNP in psoriasis
	heterozygous genotype corresponding to reduced IL-12p40 transcription and IL-12p70 production associated to cerebral malaria (low levels of IL12 production are associated with an increased risk of CM)
	association of IL-12beta (1188A/C) gene polymorphism with the risk of cervical cancer
	IL12B SNP rs6887695 modulates the susceptibility and the phenotype of IBD
	genetic association between IL12B and Takayasu arteritis (rs56167332)
	locus conferring strong resistance to Tuberculosis

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology autoimmune   antibodies specific as therapeutic targets in rheumatoid arthritis immunology autoimmune   attractive targets for therapy of autoimmune diseases

ANIMAL & CELL MODELS

Il12b knock-out mice