IFI44L

Chr 1

interferon induced protein 44 like

Also known as: C1orf29, GS3686, TLDC5B

NCBI Gene: 10964 ENSG00000137959 UniProt: Q53G44

This interferon-stimulated gene encodes a protein that provides antiviral and antibacterial activity by promoting macrophage differentiation, facilitating inflammatory cytokine secretion, and controlling viral replication, while also serving as a feedback regulator of interferon responses. Mutations in IFI44L cause autosomal recessive immunodeficiency, with patients presenting with severe, recurrent infections affecting multiple organ systems. The gene shows very low constraint against loss-of-function variants, consistent with a recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

Predicted to be involved in immune response. Predicted to act upstream of or within cellular response to virus. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (2)

gnomad: TimeoutError: The operation was aborted due to timeout

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IFI44L · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Gene ExpressionGene Expression ProfilingInfection

Host Response to Infection by Direct Analysis of Leukocyte Single Cell-type Gene Expression/transcript Abundance, Direct LS-TA

ACTIVE NOT RECRUITING

NCT06838780Chinese University of Hong KongStarted 2018-01-01

No intervention

Single Cell Sequencing TechnologyGene Expression ProfilingGene Expression

Host Response to Infection by Direct Analysis of Leukocyte Single Cell-type Gene Expression/transcript Abundance, Direct LS-TA. a Prospective Study Will Evaluate the Performance of Direct LS-TA in Triage Febrile Patients Into Major Categories of Infections: Viral, Bacterial or Active Tuberculosis.

NOT YET RECRUITING

NCT06846645Chinese University of Hong KongStarted 2025-02

No intervention

Clinical Literature

Open Research Assistant →

Landmark / reviewRecent case evidence

Full-Text Mentions

NLP-detected gene mentions in article bodies · via PubTator3

PubTator3

Unraveling IFI44L's biofunction in human disease

Du J et al.·Front Oncol

2024