TOLLIP Chromosome 11
Toll interacting protein
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What This Gene Does
This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
C2 domain containing
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000078902
Associated Conditions (4)
Interstitial lung disease 2
Chronic obstructive pulmonary disease
Combined pulmonary fibrosis-emphysema syndrome
Susceptibility to severe coronavirus disease (COVID-19)
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111521887 | Health Risk | Uncertain significance; association | Interstitial lung disease 2, Chronic obstructive pulmonary disease, Combined pulmonary fibrosis-emphysema syndrome |