IFRD1

Chr 7

interferon related developmental regulator 1

Also known as: PC4, TIS7

NCBI Gene: 3475ENSG00000006652UniProt: O00458

This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— IFRD1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.67LOEUF
pLI 0.001
Z-score 2.74
OE 0.39 (0.23–0.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.26Z-score
OE missense 0.77 (0.69–0.87)
191 obs / 246.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.39 (0.23–0.67)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.77 (0.69–0.87)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.93
0≤1.21.6
LoF obs/exp: 9 / 23.3Missense obs/exp: 191 / 246.7Syn Z: 0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IFRD1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.
Brkanac Z et al.·Am J Hum Genet
2009
Increased IFRD1 Expression in Human Colon Cancers Predicts Reduced Patient Survival.
Lewis MA et al.·Dig Dis Sci
2017
Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease.
Gu Y et al.·Nature
2009
Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.
Lin P et al.·J Hum Genet
2018Case report
Multi-omics analyses related to unfolded protein response in prostate cancer implicate pro-tumor role of IFRD1.
Xue Y et al.·Front Immunol
2026
Sex-specific associations of asthma acquisition with changes in DNA methylation during adolescence.
Patel R et al.·Clin Exp Allergy
2021
Investigation of association between hip osteoarthritis susceptibility loci and radiographic proximal femur shape.
Lindner C et al.·Arthritis Rheumatol
2015
Mutated genes and driver pathways involved in myelodysplastic syndromes—a transcriptome sequencing based approach.
Liu L et al.·Mol Biosyst
2015
ALS blood expression profiling identifies new biomarkers, patient subgroups, and evidence for neutrophilia and hypoxia.
Swindell WR et al.·J Transl Med
2019
Global hypomethylation identifies Loci targeted for hypermethylation in head and neck cancer.
Poage GM et al.·Clin Cancer Res
2011
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools