Interferon-Induced Helicase C Domain-Containing Protein 1

Alternative Names

  • IFIH1
  • Melanoma Differentiation-Associated Gene 5
  • MDA5
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OMIM Number

606951

NCBI Gene ID

64135

Uniprot ID

Q9BYX4

Length

51,611 bases

No. of Exons

16

No. of isoforms

2

Protein Name

Interferon-induced helicase C domain-containing protein 1

Molecular Mass

116689 Da

Amino Acid Count

1025

Genomic Location

chr2:162,267,073-162,318,683

Gene Map Locus
2q24.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_022168.3:c.1126G>ALebanonNC_000002.12:g.162282546C>TUncertain SignificanceNG_011495.1:g.40984G>A; NM_022168.3:c.1126G>A; NP_071451.2:p.Glu376Lys
NM_022168.3:c.1764delUnited Arab EmiratesNC_000002.12:g.162278213delUncertain SignificanceUncertain SignificanceIFIH1-Associated Viral Respiratory InfectionNG_011495.1:g.45324del; NM_022168.3:c.1764del; NP_071451.2:p.Ala589LeufsTer16553669430987915
NM_022168.3:c.961G>TArab; LebanonNC_000002.12:g.162288269C>ALikely PathogenicAicardi-Goutieres Syndrome 7NG_011495.1:g.35261G>T; NM_022168.3:c.961G>T; NP_071451.2:p.Glu321Ter
NM_022168.4:c.1850T>CSaudi ArabiaNC_000002.12:g.162277609A>GPathogenicLikely PathogenicAicardi-Goutieres Syndrome 7NG_011495.1:g.45921T>C; NM_022168.4:c.1850T>C; NP_071451.2:p.Ile617Thr21051977651700152
NM_022168.4:c.2597C>TLebanonNC_000002.12:g.162272245G>AUncertain SignificanceUncertain SignificanceFamilial Mediterranean FeverNG_011495.1:g.51285C>T; NM_022168.4:c.2597C>T; NP_071451.2:p.Pro866Leu200833729541773
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