Gene: IFIH1

Alternate names for this Gene: AGS7|Hlcd|IDDM19|MDA-5|MDA5|RLR-2|SGMRT1

Gene Summary: IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons. It has been shown that Coronaviruses (CoVs) as well as various other virus families, are capable of evading the MDA5-dependent interferon response, thus impeding the activation of the innate immune response to infection. MDA5 has also been shown to play an important role in enhancing natural killer cell function in malaria infection. In addition to its protective role in antiviral responses, MDA5 has been implicated in autoimmune and autoinflammatory diseases such as type 1 diabetes, systemic lupus erythematosus, and Aicardi-Goutieres syndrome

Gene is located in Chromosome: 2

Location in Chromosome : 2q24.2

Description of this Gene: interferon induced with helicase C domain 1

Type of Gene: protein-coding

rs1559810905 in IFIH1 gene and AICARDI-GOUTIERES SYNDROME 7 PMID 30965144 2020 An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

PMID 25620204 2015 A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

PMID 28319323 2017 Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

PMID 24686847 2014 Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

PMID 24995871 2014 Aicardi-Goutières syndrome is caused by IFIH1 mutations.

rs1559810905 in IFIH1 gene and Anemia PMID 30965144 2020 An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

rs35667974 in IFIH1 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1990760 in IFIH1 gene and Autoantibody measurement PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

rs35667974 in IFIH1 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs35667974 in IFIH1 gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1990760 in IFIH1 gene and Diabetes Mellitus, Insulin-Dependent PMID 17554260 2007 Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.

PMID 19430480 2009 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

PMID 21980299 2011 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

PMID 25751624 2015 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

rs1559810905 in IFIH1 gene and Hepatosplenomegaly PMID 30965144 2020 An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

rs1990760 in IFIH1 gene and Immunoglobulin A deficiency (disorder) PMID 27723758 2016 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.

rs1990760 in IFIH1 gene and Immunoglobulin A measurement PMID 20694011 2010 Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.

rs1990760 in IFIH1 gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs1559810905 in IFIH1 gene and Intrauterine retardation PMID 30965144 2020 An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

rs1559810905 in IFIH1 gene and Lenticulostriate Vasculopathy PMID 30965144 2020 An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

rs1990760 in IFIH1 gene and Lupus Erythematosus, Systemic PMID 19838195 2009 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

rs1990760 in IFIH1 gene and Multiple Sclerosis PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

rs1559810905 in IFIH1 gene and Petechiae PMID 30965144 2020 An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

rs1559810905 in IFIH1 gene and Premature Birth PMID 30965144 2020 An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

rs1990760 in IFIH1 gene and Protein measurement PMID 20694011 2010 Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.

rs1990760 in IFIH1 gene and Psoriasis PMID 25903422 2015 Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1559810905 in IFIH1 gene and Pulmonary arterial hypertension PMID 30965144 2020 An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

rs376048533 in IFIH1 gene and SINGLETON-MERTEN SYNDROME 1 PMID 28319323 2017 Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

PMID 25620204 2015 A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

rs1990760 in IFIH1 gene and Selective immunoglobulin A deficiency PMID 27723758 2016 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.

rs1559810905 in IFIH1 gene and Thrombocytopenia PMID 30965144 2020 An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

rs35667974 in IFIH1 gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.