IL1R1 Chromosome 2
Interleukin 1 receptor type 1
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What This Gene Does
This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]
Gene Info
Gene Group
"CD molecules|I-set domain containing|Interleukin receptors|TIR domain containing"
Locus Type
gene with protein product
Location
2q11.2-q12.1
Ensembl
ENSG00000115594
Associated Conditions (2)
Ascending aortic dissection
Chronic recurrent multifocal osteomyelitis 3
Key Variants
RS13019803
association
Ascending aortic dissection, Ascending aortic dissection
Health Risk
RS3917254
association
Ascending aortic dissection, Ascending aortic dissection
Health Risk
RS3917296
association
Ascending aortic dissection, Ascending aortic dissection
Health Risk
RS2528521189
Pathogenic
Chronic recurrent multifocal osteomyelitis 3, Chronic recurrent multifocal osteomyelitis 3
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS13019803 | Health Risk | association | Ascending aortic dissection, Ascending aortic dissection |
| RS3917254 | Health Risk | association | Ascending aortic dissection, Ascending aortic dissection |
| RS3917296 | Health Risk | association | Ascending aortic dissection, Ascending aortic dissection |
| RS2528521189 | Health Risk | Pathogenic | Chronic recurrent multifocal osteomyelitis 3, Chronic recurrent multifocal osteomyelitis 3 |