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IL10RA

Synonyms
CD210, CD210a, CDW210A, HIL-10R, IL-10R1, IL10R
External resources
Summary
The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
3
Likely pathogenic
6
VUS
1,667
Likely benign
2,010
Benign
422

Patient phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on IL10RA gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
55.6%
Abnormality of the cardiovascular system
44.4%
Abnormal cellular phenotype
11.1%
Abnormality of blood and blood-forming tissues
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the endocrine system
11.1%
Abnormality of the eye
11.1%
Abnormality of the immune system
11.1%
Abnormality of the musculoskeletal system
11.1%
Abnormality of the respiratory system
11.1%
Growth abnormality
11.1%
Abnormality of head or neck
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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