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FLASH GENE

Symbol

IL10RA

contributors: mct - updated : 17-11-2012

HGNC name	interleukin 10 receptor, alpha
HGNC id	5964

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation     loss of function loss of function mutations in interleukin-10 (IL10) and interleukin-10 receptors (IL10R) cause severe infantile (very early onset) inflammatory bowel disease (IBD) constitutional germinal mutation       in patients with early-onset enterocolitis, involving hyperinflammatory immune responses in the intestine

Susceptibility

to schizophrenia rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE)

Variant & Polymorphism other	homozygosity of the IL-10R1 G330R allele is associated with schizophrenia
	IL10RA G330R may possibly contribute to RA or SLE disease susceptibility

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

inactivation of the Il10 receptor (Il10ra) gene in mice leads to an increased susceptibility to chemically induced colitis as in the classical Il10-deficient mutant