|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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26525
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Interleukin 36 receptor antagonist |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
IL36RN |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
FIL1, FIL1(DELTA), FIL1D, IL-36Ra, IL1F5, IL1HY1, IL1L1, IL1RP3, IL36RA, PSORP, PSORS14 |
|
Chromosome
Chromosome number
|
2 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
2q14.1 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 famil |
| UniProt ID |
Q9UBH0
|
| Protein name |
Interleukin-36 receptor antagonist protein (IL-36Ra) (FIL1 delta) (IL-1-related protein 3) (IL-1RP3) (Interleukin-1 HY1) (IL-1HY1) (Interleukin-1 delta) (IL-1 delta) (Interleukin-1 family member 5) (IL-1F5) (Interleukin-1 receptor antagonist homolog 1) (I |
| Protein function |
Inhibits the activity of interleukin-36 (IL36A,IL36B and IL36G) by binding to receptor IL1RL2 and preventing its association with the coreceptor IL1RAP for signaling. Part of the IL-36 signaling system that is thought to be present in epithelial |
| PDB |
4P0J
,
4P0K
,
4P0L
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF00340
|
IL1 |
38 → 151 |
Interleukin-1 / 18 |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Predominantly expressed in skin keratinocytes but not in fibroblasts, endothelial cells or melanocytes. Detected also in the spleen, brain leukocyte and macrophage cell types. Increased in lesional psoriasis skin. {ECO:0000269|PubMed:1 |
| Sequence |
|
| Sequence length |
155 |
| Interactions |
View interactions
|
|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Autoinflammatory Disease |
Autoinflammatory syndrome |
rs148755083 |
N/A |
| Pustular Psoriasis |
generalized pustular psoriasis |
rs387906914, rs148755083 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Palmoplantar Pustules |
pustulosis palmaris et plantaris |
N/A |
N/A |
GenCC |
| Psoriasis |
psoriasis 14, pustular, Psoriasis |
N/A |
N/A |
GenCC, GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Achondroplasia |
Associate
|
30036598 |
| Acute Generalized Exanthematous Pustulosis |
Associate
|
30395846, 38013380 |
| Aggressive Periodontitis |
Associate
|
30036598 |
| Arthritis Juvenile |
Associate
|
35325069 |
| Castleman Disease |
Associate
|
32303241 |
| Chronobiology Disorders |
Associate
|
21839423 |
| Colitis Ulcerative |
Stimulate
|
30643810 |
| Diabetes Mellitus Type 2 |
Inhibit
|
33034926 |
| Dry Eye Syndromes |
Associate
|
34428579 |
| Fever |
Associate
|
32303241, 36331855 |
| Glossitis Benign Migratory |
Associate
|
27900482 |
| Hypoalbuminemia |
Associate
|
36331855 |
| Inflammation |
Associate
|
28194751, 33034926, 34272761, 34428579 |
| Inflammatory Bowel Diseases |
Associate
|
30643810 |
| Intervertebral disc disease |
Associate
|
28583914 |
| Leukocytosis |
Associate
|
36331855 |
| Periodontitis |
Inhibit
|
34272761 |
| Polyradiculoneuropathy Chronic Inflammatory Demyelinating |
Associate
|
26632693 |
| Psoriasis |
Associate
|
21839423, 27900482, 28194751, 30036598, 30395846, 30634937, 31286990, 31789248, 36331855 |
| Skin Diseases |
Associate
|
21839423 |
| Stomach Neoplasms |
Associate
|
26632693 |
|