IFNGR1

Chr 6

interferon gamma receptor 1

Also known as: CD119, IFNGR, IMD27A, IMD27B

This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 27A
UniProtImmunodeficiency 27B
1
Active trials
65
Pubs (1 yr)
P/LP submissions
P/LP missense
0.70
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?
0.70LOEUF
pLI 0.016
Z-score 2.46
OE 0.35 (0.190.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.31Z-score
OE missense 0.95 (0.851.05)
246 obs / 259.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.35 (0.190.70)
00.351.4
Missense OE?0.95 (0.851.05)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 6 / 16.9Missense obs/exp: 246 / 259.8Syn Z: 0.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IFNGR1 · protein map & ClinVar variants

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