HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IFIH1
interferon induced with helicase C domain 1
Chromosome 2 Β· 2q24.2
NCBI Gene: 64135Ensembl: ENSG00000115267.10HGNC: HGNC:18873UniProt: Q9BYX4
353PubMed Papers
24Diseases
0Drugs
41Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein complex oligomerizationpositive regulation of interleukin-6 productionpositive regulation of tumor necrosis factor productionMDA-5 signaling pathwayAicardi-Goutieres syndrome 7Singleton-Merten syndrome 1Aicardi-Goutières syndromeimmunodeficiency 95
✦AI Summary

IFIH1 (MDA5) is a cytoplasmic innate immune receptor that functions as a sentinel for viral and aberrant nucleic acids, triggering antiviral defense responses 1. The protein detects diverse viral pathogens including picornaviruses, coronaviruses (SARS-CoV-2), dengue virus, and reovirus through recognition of long double-stranded RNA (>1 kb) and unmethylated mRNA 23. Upon ligand binding, IFIH1 associates with MAVS to activate TBK1 and IKBKE kinases, which phosphorylate IRF3 and IRF7 transcription factors, culminating in type I interferon and pro-inflammatory cytokine production 4. Beyond antiviral immunity, IFIH1 recognizes endogenous dsRNAs; notably, the novel transcript IBR1 activates IFIH1 in acute respiratory distress syndrome by binding its helicase domain, driving inflammatory M1 macrophage polarization 5. Clinically, IFIH1 dysfunction associates with immunodeficiency and impaired antiviral responses, while gain-of-function variants contribute to autoimmune disease. The rs1990760 polymorphism confers type 1 diabetes susceptibility, particularly in Caucasian populations 6. IFIH1-targeted autoimmunity manifests as dermatomyositis with anti-MDA5 antibodies, characterized by rapidly progressive interstitial lung disease and vasculopathy 7. Additionally, IFIH1 activation through endogenous dsRNA signaling represents a therapeutic mechanism for DNA-demethylating agents against colorectal cancer 4, suggesting dual roles in protective immunity and disease pathogenesis.

Sources cited
1
IFIH1 acts as a cytoplasmic sensor of viral nucleic acids and activates antiviral responses including type I interferon induction
PMID: 28594402
2
IFIH1 detects SARS-CoV-2
PMID: 33440148
3
IFIH1 is responsible for detecting picornaviruses and rhinovirus
PMID: 28606988
4
IFIH1/MDA5 activates MAVS pathway and IRF7 leading to interferon responses; disruption inhibits anti-tumor effects of DNA-demethylating agents
PMID: 26317465
5
Endogenous dsRNA IBR1 binds IFIH1 helicase domain and drives M1 macrophage polarization in ARDS; IFIH1 variants can counteract IBR1-induced lung injury
PMID: 39313944
6
IFIH1 rs1990760 and rs3747517 polymorphisms confer susceptibility to autoimmune diseases, particularly in Caucasian populations
PMID: 37426657
7
Anti-MDA5 dermatomyositis is associated with rapidly progressive interstitial lung disease and involves interferon-mediated vasculopathy
PMID: 34745149
Disease Associationsβ“˜24
Aicardi-Goutieres syndrome 7Open Targets
0.82Strong
Singleton-Merten syndrome 1Open Targets
0.78Strong
Aicardi-Goutières syndromeOpen Targets
0.71Strong
immunodeficiency 95Open Targets
0.69Moderate
hypothyroidismOpen Targets
0.64Moderate
psoriasisOpen Targets
0.60Moderate
myxedemaOpen Targets
0.58Moderate
thyroid diseaseOpen Targets
0.55Moderate
Singleton-Merten dysplasiaOpen Targets
0.50Moderate
type 1 diabetes mellitusOpen Targets
0.50Moderate
Aicardi-Goutieres syndromeOpen Targets
0.49Moderate
psoriasis vulgarisOpen Targets
0.49Moderate
inflammatory bowel diseaseOpen Targets
0.47Moderate
skin diseaseOpen Targets
0.45Moderate
genetic disorderOpen Targets
0.45Moderate
IFIH1-related type 1 interferonopathyOpen Targets
0.45Moderate
Hashimoto's thyroiditisOpen Targets
0.43Moderate
psoriatic arthritisOpen Targets
0.42Moderate
systemic lupus erythematosusOpen Targets
0.41Moderate
VitiligoOpen Targets
0.40Moderate
Aicardi-Goutieres syndrome 7UniProt
Immunodeficiency 95UniProt
Singleton-Merten syndrome 1UniProt
Type 1 diabetes mellitus 19UniProt
Pathogenic Variants41
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)Pathogenic
Singleton-Merten syndrome 1|not provided|Aicardi-Goutieres syndrome 7|Singleton-Merten syndrome 1;Aicardi-Goutieres syndrome 7|IFIH1-related disorder|Inborn genetic diseases|Incidental Discovery
β˜…β˜…β˜†β˜†2025β†’ Residue 822
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)Pathogenic
Aicardi-Goutieres syndrome 7|not provided|7 conditions|Singleton-Merten syndrome 1;Aicardi-Goutieres syndrome 7|Singleton-Merten syndrome 1|Immunodeficiency 95|IFIH1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 779
NM_022168.4(IFIH1):c.2067del (p.Arg689fs)Likely pathogenic
Immunodeficiency 95|IFIH1-related type 1 interferonopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 689
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu)Pathogenic
Aicardi-Goutieres syndrome 7|Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1|Singleton-Merten syndrome 1
β˜…β˜…β˜†β˜†2025β†’ Residue 779
NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys)Pathogenic
Aicardi-Goutieres syndrome 7|not provided|Singleton-Merten syndrome 1;Aicardi-Goutieres syndrome 7
β˜…β˜…β˜†β˜†2024β†’ Residue 779
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)Pathogenic
Aicardi-Goutieres syndrome 7|Singleton-Merten syndrome 1;Aicardi-Goutieres syndrome 7|Singleton-Merten syndrome 1
β˜…β˜…β˜†β˜†2024β†’ Residue 720
NM_022168.4(IFIH1):c.1483G>A (p.Gly495Arg)Likely pathogenic
Aicardi-Goutieres syndrome 7|not provided|Spastic diplegia
β˜…β˜…β˜†β˜†2024β†’ Residue 495
NM_022168.4(IFIH1):c.2342G>A (p.Gly781Glu)Likely pathogenic
Aicardi-Goutieres syndrome 7|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 781
NM_022168.4(IFIH1):c.2688C>A (p.Tyr896Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 896
NM_022168.4(IFIH1):c.454-1G>ALikely pathogenic
Aicardi Goutieres syndrome
β˜…β˜†β˜†β˜†2023
NM_022168.4(IFIH1):c.1684C>T (p.Gln562Ter)Likely pathogenic
Hereditary predisposition to infections
β˜…β˜†β˜†β˜†2023β†’ Residue 562
NM_022168.4(IFIH1):c.1165G>A (p.Gly389Arg)Likely pathogenic
Aicardi-Goutieres syndrome 7|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 389
NM_022168.4(IFIH1):c.2465G>C (p.Arg822Pro)Likely pathogenic
Singleton-Merten syndrome 1;Aicardi-Goutieres syndrome 7
β˜…β˜†β˜†β˜†2023β†’ Residue 822
NM_022168.4(IFIH1):c.1246A>C (p.Ile416Leu)Likely pathogenic
Aicardi-Goutieres syndrome 7
β˜…β˜†β˜†β˜†2022β†’ Residue 416
NM_022168.4(IFIH1):c.317C>A (p.Ser106Ter)Likely pathogenic
Immunodeficiency 95
β˜…β˜†β˜†β˜†2022β†’ Residue 106
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp)Pathogenic
Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1
β˜…β˜†β˜†β˜†2021β†’ Residue 979
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val)Likely pathogenic
Aicardi-Goutieres syndrome 7
β˜…β˜†β˜†β˜†2018β†’ Residue 393
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)Likely pathogenic
Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1
β˜…β˜†β˜†β˜†2018β†’ Residue 329
NM_022168.4(IFIH1):c.274G>A (p.Ala92Thr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 92
NM_022168.4(IFIH1):c.1328A>G (p.Asp443Gly)Pathogenic
not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 443
View on ClinVar β†—
Related Genes
UBA52Protein interaction100%UBBProtein interaction100%UBCProtein interaction100%TRIM25Protein interaction98%RNF125Protein interaction98%TRIM65Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
35%
Liver
32%
Heart
28%
Ovary
24%
Brain
14%
Gene Interaction Network
Click a node to explore
IFIH1UBA52UBBUBCTRIM25RNF125TRIM65
PROTEIN STRUCTURE
Preparing viewer…
PDB3GA3 Β· 1.45 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.41LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.17 [0.99–1.41]
RankingsWhere IFIH1 stands among ~20K protein-coding genes
  • #883of 20,598
    Most Researched353 Β· top 5%
  • #1,505of 5,498
    Most Pathogenic Variants41
  • #14,544of 17,882
    Most Constrained (LOEUF)1.41
Genes detectedIFIH1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Dermatomyositis With Anti-MDA5 Antibodies: Bioclinical Features, Pathogenesis and Emerging Therapies.
PMID: 34745149
Front Immunol Β· 2021
1.00
2
DNA-Demethylating Agents Target Colorectal Cancer Cells by Inducing Viral Mimicry by Endogenous Transcripts.
PMID: 26317465
Cell Β· 2015
0.90
3
Tofacitinib in Amyopathic Dermatomyositis-Associated Interstitial Lung Disease.
PMID: 31314977
N Engl J Med Β· 2019
0.80
4
[Dermatomyositis and Autoantibodies].
PMID: 29632290
Brain Nerve Β· 2018
0.76
5
The A allele of the rs1990760 polymorphism in the IFIH1 gene is associated with protection for arterial hypertension in type 1 diabetic patients and with expression of this gene in human mononuclear cells.
PMID: 24386202
PLoS One Β· 2013
0.70