IL27RA

Chr 19

interleukin 27 receptor subunit alpha

Also known as: CRL1, IL-27RA, IL27R, TCCR, WSX1, zcytor1

In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 134 (Epstein-Barr virus-specific)
0
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
0.90
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.90LOEUF
pLI 0.000
Z-score 2.03
OE 0.64 (0.460.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.12Z-score
OE missense 0.84 (0.760.92)
310 obs / 370.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.460.90)
00.351.4
Missense OE?0.84 (0.760.92)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 24 / 37.4Missense obs/exp: 310 / 370.6Syn Z: 1.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IL27RA · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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