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Aliases for IFIH1 Gene

Aliases for IFIH1 Gene

  • Interferon Induced With Helicase C Domain 1 2 3 5
  • Helicard 2 3 4
  • Clinically Amyopathic Dermatomyositis Autoantigen 140 KDa 3 4
  • Melanoma Differentiation-Associated Protein 5 3 4
  • Melanoma Differentiation-Associated Gene 5 2 3
  • Murabutide Down-Regulated Protein 3 4
  • RNA Helicase-DEAD Box Protein 116 3 4
  • Helicase With 2 CARD Domains 3 4
  • RIG-I-Like Receptor 2 3 4
  • CADM-140 Autoantigen 3 4
  • MDA-5 3 4
  • RLR-2 3 4
  • MDA5 3 4
  • Interferon-Induced Helicase C Domain-Containing Protein 1 3
  • Interferon-Induced With Helicase C Domain Protein 1 4
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 3
  • EC 3.6.4.13 4
  • IDDM19 3
  • SGMRT1 3
  • RH116 4
  • AGS7 3
  • Hlcd 3

External Ids for IFIH1 Gene

Previous GeneCards Identifiers for IFIH1 Gene

  • GC02M163327
  • GC02M162949
  • GC02M162831
  • GC02M163123
  • GC02M155005

Summaries for IFIH1 Gene

Entrez Gene Summary for IFIH1 Gene

  • DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent type 19. [provided by RefSeq, Jul 2012]

GeneCards Summary for IFIH1 Gene

IFIH1 (Interferon Induced With Helicase C Domain 1) is a Protein Coding gene. Diseases associated with IFIH1 include Aicardi-Goutieres Syndrome 7 and Singleton-Merten Syndrome 1. Among its related pathways are RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and Kaposi's sarcoma-associated herpesvirus infection. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is DDX58.

UniProtKB/Swiss-Prot for IFIH1 Gene

  • Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and proinflammatory cytokines. Its ligands include mRNA lacking 2-O-methylation at their 5 cap and long-dsRNA (>1 kb in length). Upon ligand binding it associates with mitochondria antiviral signaling protein (MAVS/IPS1) which activates the IKK-related kinases: TBK1 and IKBKE which phosphorylate interferon regulatory factors: IRF3 and IRF7 which in turn activate transcription of antiviral immunological genes, including interferons (IFNs); IFN-alpha and IFN-beta. Responsible for detecting the Picornaviridae family members such as encephalomyocarditis virus (EMCV) and mengo encephalomyocarditis virus (ENMG). Can also detect other viruses such as dengue virus (DENV), west Nile virus (WNV), and reovirus. Also involved in antiviral signaling in response to viruses containing a dsDNA genome, such as vaccinia virus. Plays an important role in amplifying innate immune signaling through recognition of RNA metabolites that are produced during virus infection by ribonuclease L (RNase L). May play an important role in enhancing natural killer cell function and may be involved in growth inhibition and apoptosis in several tumor cell lines.

Gene Wiki entry for IFIH1 Gene

Additional gene information for IFIH1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFIH1 Gene

Genomics for IFIH1 Gene

GeneHancer (GH) Regulatory Elements for IFIH1 Gene

Promoters and enhancers for IFIH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J162316 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.0 44 4.2 HDGF PKNOX1 ATF1 ARID4B SIN3A IRF4 ZNF48 ETS1 YY1 ZNF766 IFIH1 GCA FAP GC02M162307
GH02J162343 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.6 -25.7 -25708 2.3 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 GCA IFIH1 FAP GC02P162329 RNA5SP109
GH02J161961 Enhancer 0.3 FANTOM5 15.2 +357.4 357412 0.4 IFIH1 RPEP5 ENSG00000230918 SLC4A10
GH02J161988 Enhancer 0.2 FANTOM5 9.4 +331.3 331270 0.2 IFIH1 RPEP5 ENSG00000230918
GH02J162258 Enhancer 0.4 FANTOM5 dbSUPER 3.7 +59.9 59873 0.1 IFIH1 LOC105373724 GC02P162270
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IFIH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IFIH1 gene promoter:
  • STAT1
  • Evi-1
  • FOXL1
  • AML1a
  • c-Rel
  • Ik-3
  • FOXC1
  • Nkx3-1

Genomic Locations for IFIH1 Gene

Genomic Locations for IFIH1 Gene
chr2:162,267,079-162,318,764
(GRCh38/hg38)
Size:
51,686 bases
Orientation:
Minus strand
chr2:163,123,589-163,175,213
(GRCh37/hg19)
Size:
51,625 bases
Orientation:
Minus strand

Genomic View for IFIH1 Gene

Genes around IFIH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFIH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFIH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFIH1 Gene

Proteins for IFIH1 Gene

  • Protein details for IFIH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYX4-IFIH1_HUMAN
    Recommended name:
    Interferon-induced helicase C domain-containing protein 1
    Protein Accession:
    Q9BYX4
    Secondary Accessions:
    • Q2NKL6
    • Q6DC96
    • Q86X56
    • Q96MX8
    • Q9H3G6

    Protein attributes for IFIH1 Gene

    Size:
    1025 amino acids
    Molecular mass:
    116689 Da
    Quaternary structure:
    • Monomer in the absence of ligands and homodimerizes in the presence of dsRNA ligands. Can assemble into helical or linear polymeric filaments on long dsRNA. Interacts with MAVS/IPS1. Interacts (via the CARD domains) with TKFC, the interaction is inhibited by viral infection (PubMed:17600090). Interacts with PCBP2. Interacts with NLRC5. Interacts with PIAS2-beta. Interacts with DDX60. Interacts with ANKRD17. Interacts with IKBKE (PubMed:17600090). Interacts with V protein of Simian virus 5, Human parainfluenza virus 2, Mumps virus, Sendai virus and Hendra virus. Binding to paramyxoviruses V proteins prevents IFN-beta induction, and the further establishment of an antiviral state. Interacts with herpes simplex virus 1 protein US11; this interaction prevents the interaction of MAVS/IPS1 to IFIH1. Interacts with ATG5 and ATG12, either as ATG5 and ATG12 monomers or as ATG12-ATG5 conjugates (PubMed:17709747).
    Miscellaneous:
    • In HIV-1 infected HeLa-CD4 cells, overexpression of IFIH1 results in a great increase in the level of secreted viral p24 protein.
    SequenceCaution:
    • Sequence=AAH78180.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB71141.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IFIH1 Gene

    Alternative splice isoforms for IFIH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFIH1 Gene

Post-translational modifications for IFIH1 Gene

  • Sumoylated. Sumoylation positively regulates its role in type I interferon induction and is enhanced by PIAS2-beta.
  • Ubiquitinated by RNF125, leading to its degradation by the proteasome (PubMed:17460044). USP17/UPS17L2-dependent deubiquitination positively regulates the receptor (PubMed:20368735).
  • During apoptosis, processed into 3 cleavage products. The helicase-containing fragment, once liberated from the CARD domains, translocate from the cytoplasm to the nucleus. The processed protein significantly sensitizes cells to DNA degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IFIH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IFIH1 Gene

Domains & Families for IFIH1 Gene

Gene Families for IFIH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for IFIH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BYX4

UniProtKB/Swiss-Prot:

IFIH1_HUMAN :
  • Belongs to the helicase family. RLR subfamily.
Family:
  • Belongs to the helicase family. RLR subfamily.
genes like me logo Genes that share domains with IFIH1: view

Function for IFIH1 Gene

Molecular function for IFIH1 Gene

UniProtKB/Swiss-Prot Function:
Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and proinflammatory cytokines. Its ligands include mRNA lacking 2-O-methylation at their 5 cap and long-dsRNA (>1 kb in length). Upon ligand binding it associates with mitochondria antiviral signaling protein (MAVS/IPS1) which activates the IKK-related kinases: TBK1 and IKBKE which phosphorylate interferon regulatory factors: IRF3 and IRF7 which in turn activate transcription of antiviral immunological genes, including interferons (IFNs); IFN-alpha and IFN-beta. Responsible for detecting the Picornaviridae family members such as encephalomyocarditis virus (EMCV) and mengo encephalomyocarditis virus (ENMG). Can also detect other viruses such as dengue virus (DENV), west Nile virus (WNV), and reovirus. Also involved in antiviral signaling in response to viruses containing a dsDNA genome, such as vaccinia virus. Plays an important role in amplifying innate immune signaling through recognition of RNA metabolites that are produced during virus infection by ribonuclease L (RNase L). May play an important role in enhancing natural killer cell function and may be involved in growth inhibition and apoptosis in several tumor cell lines.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Induction:
By interferon (IFN) and TNF.

Enzyme Numbers (IUBMB) for IFIH1 Gene

Phenotypes From GWAS Catalog for IFIH1 Gene

Gene Ontology (GO) - Molecular Function for IFIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding IEA --
GO:0003725 double-stranded RNA binding TAS 17079289
GO:0003727 single-stranded RNA binding IDA 19656871
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with IFIH1: view
genes like me logo Genes that share phenotypes with IFIH1: view

Human Phenotype Ontology for IFIH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IFIH1 Gene

MGI Knock Outs for IFIH1:

Animal Model Products

  • Taconic Biosciences Mouse Models for IFIH1

Clone Products

  • Addgene plasmids for IFIH1

No data available for Transcription Factor Targets and HOMER Transcription for IFIH1 Gene

Localization for IFIH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFIH1 Gene

Cytoplasm. Nucleus. Note=May be found in the nucleus, during apoptosis.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IFIH1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
mitochondrion 2
endosome 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for IFIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with IFIH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IFIH1 Gene

Pathways & Interactions for IFIH1 Gene

genes like me logo Genes that share pathways with IFIH1: view

Pathways by source for IFIH1 Gene

Gene Ontology (GO) - Biological Process for IFIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0009597 detection of virus TAS 17079289
GO:0009615 response to virus TAS 21616437
GO:0016032 viral process IEA --
GO:0016579 protein deubiquitination TAS --
genes like me logo Genes that share ontologies with IFIH1: view

No data available for SIGNOR curated interactions for IFIH1 Gene

Drugs & Compounds for IFIH1 Gene

(3) Drugs for IFIH1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(3) Additional Compounds for IFIH1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with IFIH1: view

Transcripts for IFIH1 Gene

mRNA/cDNA for IFIH1 Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(76) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IFIH1 Gene

Interferon induced with helicase C domain 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for IFIH1

Alternative Splicing Database (ASD) splice patterns (SP) for IFIH1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a ·
SP1: - - - -
SP2:
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:

ExUns: 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for IFIH1 Gene

GeneLoc Exon Structure for
IFIH1
ECgene alternative splicing isoforms for
IFIH1

Expression for IFIH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IFIH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IFIH1 Gene

This gene is overexpressed in Bone (21.6), Frontal cortex (15.8), Pancreas (14.7), and Esophagus (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IFIH1 Gene



NURSA nuclear receptor signaling pathways regulating expression of IFIH1 Gene:

IFIH1

SOURCE GeneReport for Unigene cluster for IFIH1 Gene:

Hs.163173

mRNA Expression by UniProt/SwissProt for IFIH1 Gene:

Q9BYX4-IFIH1_HUMAN
Tissue specificity: Widely expressed, at a low level. Expression is detected at slightly highest levels in placenta, pancreas and spleen and at barely levels in detectable brain, testis and lung.

Evidence on tissue expression from TISSUES for IFIH1 Gene

  • Spleen(4.6)
  • Liver(4.4)
  • Lung(2.5)
  • Blood(2.4)
  • Lymph node(2.4)
  • Kidney(2.3)
  • Muscle(2.1)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IFIH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • liver
  • spleen
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with IFIH1: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for IFIH1 Gene

Orthologs for IFIH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFIH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFIH1 34 33
  • 97.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IFIH1 34 33
  • 87.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IFIH1 34 33
  • 86.99 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ifih1 16 34 33
  • 81.18 (n)
rat
(Rattus norvegicus)
Mammalia Ifih1 33
  • 80.78 (n)
oppossum
(Monodelphis domestica)
Mammalia IFIH1 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFIH1 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFIH1 34 33
  • 68.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFIH1 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ifih1 33
  • 61.16 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC565759 33
  • 57.07 (n)
ifih1 34
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dcr-2 34
  • 7 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea drh-1 34
  • 21 (a)
ManyToMany
drh-3 34
  • 19 (a)
ManyToMany
Species where no ortholog for IFIH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IFIH1 Gene

ENSEMBL:
Gene Tree for IFIH1 (if available)
TreeFam:
Gene Tree for IFIH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IFIH1: view image

Paralogs for IFIH1 Gene

Paralogs for IFIH1 Gene

(2) SIMAP similar genes for IFIH1 Gene using alignment to 1 proteins:

  • IFIH1_HUMAN

Pseudogenes.org Pseudogenes for IFIH1 Gene

genes like me logo Genes that share paralogs with IFIH1: view

Variants for IFIH1 Gene

Sequence variations from dbSNP and Humsavar for IFIH1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs13418718 benign, Aicardi-goutieres syndrome 7, Singleton-Merten syndrome 1 162,272,373(-) G/A/C coding_sequence_variant, synonymous_variant
rs140562355 benign, Aicardi-goutieres syndrome 7, Singleton-Merten syndrome 1 162,268,109(-) C/T coding_sequence_variant, missense_variant
rs143870870 benign, Aicardi-goutieres syndrome 7, Singleton-Merten syndrome 1 162,318,050(-) G/C coding_sequence_variant, synonymous_variant
rs145187664 benign, Aicardi-goutieres syndrome 7, Singleton-Merten syndrome 1 162,268,110(-) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs147175706 likely-benign, Aicardi-goutieres syndrome 7, Singleton-Merten syndrome 1 162,276,795(-) A/G/T coding_sequence_variant, stop_gained, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for IFIH1 Gene

Variant ID Type Subtype PubMed ID
dgv749e214 CNV gain 21293372
esv3593177 CNV loss 21293372
nsv583520 CNV loss 21841781
nsv834440 CNV gain 17160897

Variation tolerance for IFIH1 Gene

Residual Variation Intolerance Score: 93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.41; 95.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IFIH1 Gene

Human Gene Mutation Database (HGMD)
IFIH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFIH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFIH1 Gene

Disorders for IFIH1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for IFIH1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search IFIH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IFIH1_HUMAN
  • Diabetes mellitus, insulin-dependent, 19 (IDDM19) [MIM:610155]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:16699517}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
  • Note=IFIH1 is the CADM-140 autoantigen, involved in clinically amyopathic dermatomyositis (CADM). This is a chronic inflammatory disorder that shows typical skin manifestations of dermatomyositis but has no or little evidence of clinical myositis. Anti-CADM-140 antibodies appear to be specific to dermatomyositis, especially CADM. Patients with anti-CADM-140 antibodies frequently develop life-threatening acute progressive interstitial lung disease (ILD). {ECO:0000269 PubMed:19565506, ECO:0000269 PubMed:20015976}.
  • Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846]: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. {ECO:0000269 PubMed:24686847, ECO:0000269 PubMed:24995871}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Singleton-Merten syndrome 1 (SGMRT1) [MIM:182250]: An autosomal dominant disorder with variable expression. Core features are marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extend glaucoma, psoriasis, muscle weakness, and joint laxity. Dental anomalies include delayed eruption and immature root formation of anterior permanent teeth, early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. {ECO:0000269 PubMed:25620204}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IFIH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for IFIH1 Gene

  1. A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. (PMID: 16699517) Smyth DJ … Todd JA (Nature genetics 2006) 3 4 22 44 58
  2. The interferon-induced helicase IFIH1 Ala946Thr polymorphism is associated with type 1 diabetes in both the high-incidence Finnish and the medium-incidence Hungarian populations. (PMID: 19841890) Jermendy A … HUNT1DGENES Programme (Diabetologia 2010) 3 22 44 58
  3. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. (PMID: 19264985) Nejentsev S … Todd JA (Science (New York, N.Y.) 2009) 3 22 44 58
  4. Solution structures of cytosolic RNA sensor MDA5 and LGP2 C-terminal domains: identification of the RNA recognition loop in RIG-I-like receptors. (PMID: 19380577) Takahasi K … Inagaki F (The Journal of biological chemistry 2009) 3 4 22 58
  5. RNA helicase encoded by melanoma differentiation-associated gene 5 is a major autoantigen in patients with clinically amyopathic dermatomyositis: Association with rapidly progressive interstitial lung disease. (PMID: 19565506) Sato S … Kuwana M (Arthritis and rheumatism 2009) 3 4 22 58

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