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Gene

IFIH1

interferon induced with helicase C domain 1

Summary

Cytogenetic location
2q24.2
Coordinates
Chromosome 2: 162,267,074–162,318,684 (GRCh38)
Exons
16 exons across 51.6 kb
Protein
1,025 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
MDA-5, Hlcd, MDA5, IDDM19
MANE Select transcript
ENST00000649979.2NM_022168.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Aicardi-Goutieres Syndrome

    • IFIH1-related type 1 interferonopathyAutosomal dominant

      IFIH1 gain-of-function variants causing Aicardi-Goutieres syndrome or Singleton-Merten syndrome.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
    • Autosomal recessive

      Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

      • 4 GenCC submitters rate it definitive or strong

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

  • Rare Monogenic Autoinflammatory Diseases

    • PTPN2-related autoinflammation and autoimmunityAutosomal dominant

      Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.

      • 4 GenCC submitters rate it definitive or strong

  • Type I Interferonopathies

    • Singleton-Merten syndrome 1Autosomal dominant

      Dental anomalies, calcification of the aorta and heart valves, and bone changes caused by IFIH1 gain-of-function variants.

      • 2 GenCC submitters rate it definitive or strong

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • 4 GenCC submitters rate it definitive or strong

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How IFIH1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where IFIH1 sits. IFIH1 and 6 genes near it on chromosome 2, from 161,792,879 to 162,792,878.Chromosome 22q24.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3161.8 Mb162 Mb162.2 Mb162.4 Mb162.6 MbSLC4A10: 161,424,332–161,985,329, forward strandSLC4A10DPP4: 161,992,243–162,074,639, reverse strandDPP4GCG: 162,142,877–162,152,404, reverse strandGCGFAP: 162,170,684–162,245,151, reverse strandFAPIFIH1: 162,267,074–162,318,684, reverse strandIFIH1GCA: 162,318,839–162,388,536, forward strandGCAKCNH7: 162,365,721–162,838,791, reverse strandKCNH7Diagram of IFIH1: 16 exons on the reverse strand of chromosome 2Exon 16: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 16: 162,267,074–162,267,379, 306 basesExon 15: 162,267,479–162,267,569, 91 basesExon 14: 162,268,087–162,268,277, 191 basesExon 13: 162,272,226–162,272,387, 162 basesExon 12: 162,273,795–162,273,944, 150 basesExon 11: 162,276,687–162,276,946, 260 basesExon 10: 162,277,415–162,277,693, 279 basesExon 9: 162,278,205–162,278,328, 124 basesExon 8: 162,279,996–162,280,112, 117 basesExon 7: 162,281,328–162,281,545, 218 basesExon 6: 162,282,366–162,282,576, 211 basesExon 5: 162,288,135–162,288,355, 221 basesExon 4: 162,293,564–162,293,668, 105 basesExon 3: 162,306,709–162,306,855, 147 basesExon 2: 162,310,765–162,310,933, 169 basesExon 1: 162,317,855–162,318,684, 830 bases161015′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.6 kb of the gene's 51.6 kb; 3,078 of those bases code for the protein.

How a genome test reads IFIH1

20

positions in IFIH1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 51.6 kb of IFIH1, introns included, not only the 3.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). IFIH1 gene: interferon induced with helicase C domain 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/ifih1

Vancouver

Dante Labs. IFIH1 gene: interferon induced with helicase C domain 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ifih1

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