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Ifih1 Gene Detail
Summary
  • Symbol
    Ifih1
  • Name
    interferon induced with helicase C domain 1
  • Synonyms
    9130009C22Rik, Helicard, MDA5, MDA-5
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918836
    NCBI Gene: 71586
  • Gene Overview
    MyGene.info: IFIH1
Location & Maps
more
  • Sequence Map
    Chr2:62595798-62646255 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      50458 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 35.85 cM, cytoband C3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    IFIH1, interferon induced with helicase C domain 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    IFIH1, interferon induced with helicase C domain 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AGS7, Hlcd, IDDM19, MDA5, MDA-5, RLR-2, SGMRT1
  • Links
    NCBI Gene ID: 64135
    neXtProt AC: NX_Q9BYX4

  • Chr Location
    2q24.2; chr2:162267079-162318764 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Ifih1 mouse models; 2 with human IFIH1 associations

Human Disease Mouse Models
       Systemic Lupus Erythematosus; SLE   OMIM: 152700 View 2 models
       Aicardi-Goutieres Syndrome 7; AGS7   OMIM: 615846
Singleton-Merten Syndrome 1; SGMRT1   OMIM: 182250
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 3 alleles in 3 genetic backgrounds
    5 phenotypes from multigenic genotypes
    49 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Targeted
    5
  • Genomic Mutations
    1 involving Ifih1
  • Incidental Mutations
Mice homozygous for a null allele have increased virus-associated morbidity and mortality, and decreased cytokine response to several viral infection.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012871 VEGA Gene Model | MGI Sequence Detail 50458 C57BL/6J ±  kb
transcript OTTMUST00000030862 VEGA | MGI Sequence Detail 5470 Not Applicable  
polypeptide OTTMUSP00000013829 VEGA | MGI Sequence Detail 1025 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    586 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 52
    cDNA 52

    Microarray probesets 4
References
more
  • Summaries
    All 87
    Diseases 1
    Gene Ontology 5
    Phenotypes 49
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:234577 Pestal K, et al., Isoforms of RNA-Editing Enzyme ADAR1 Independently Control Nucleic Acid Sensor MDA5-Driven Autoimmunity and Multi-organ Development. Immunity. 2015 Nov 17;43(5):933-44

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory