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Aliases for DDX58 Gene

Aliases for DDX58 Gene

  • DExD/H-Box Helicase 58 2 3 5
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 58 2 3
  • Retinoic Acid-Inducible Gene 1 Protein 3 4
  • Retinoic Acid-Inducible Gene I Protein 3 4
  • DEAD Box Protein 58 3 4
  • RNA Helicase RIG-I 2 3
  • RIG-I 3 4
  • RLR-1 3 4
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 3
  • Probable ATP-Dependent RNA Helicase DDX58 3
  • Retinoic Acid Inducible Gene I 2
  • RIG-I-Like Receptor 1 4
  • EC 3.6.4.13 4
  • SGMRT2 3
  • RIG-1 4
  • RIGI 3

External Ids for DDX58 Gene

Previous GeneCards Identifiers for DDX58 Gene

  • GC09M032446
  • GC09M032447

Summaries for DDX58 Gene

Entrez Gene Summary for DDX58 Gene

  • DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of immune response. [provided by RefSeq, Jul 2008]

GeneCards Summary for DDX58 Gene

DDX58 (DExD/H-Box Helicase 58) is a Protein Coding gene. Diseases associated with DDX58 include Singleton-Merten Syndrome 2 and Singleton-Merten Dysplasia. Among its related pathways are Interferon gamma signaling and Immune System. GO annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is IFIH1.

UniProtKB/Swiss-Prot for DDX58 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: 5-triphosphorylated ssRNA and dsRNA and short dsRNA (<1 kb in length). In addition to the 5-triphosphate moiety, blunt-end base pairing at the 5-end of the RNA is very essential. Overhangs at the non-triphosphorylated end of the dsRNA RNA have no major impact on its activity. A 3overhang at the 5triphosphate end decreases and any 5overhang at the 5 triphosphate end abolishes its activity. 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. Detects both positive and negative strand RNA viruses including members of the families Paramyxoviridae: Human respiratory syncytial virus and measles virus (MeV), Rhabdoviridae: vesicular stomatitis virus (VSV), Orthomyxoviridae: influenza A and B virus, Flaviviridae: Japanese encephalitis virus (JEV), hepatitis C virus (HCV), dengue virus (DENV) and west Nile virus (WNV). It also detects rotavirus and reovirus. Also involved in antiviral signaling in response to viruses containing a dsDNA genome such as Epstein-Barr virus (EBV). Detects dsRNA produced from non-self dsDNA by RNA polymerase III, such as Epstein-Barr virus-encoded RNAs (EBERs). May play important roles in granulocyte production and differentiation, bacterial phagocytosis and in the regulation of cell migration.

Gene Wiki entry for DDX58 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDX58 Gene

Genomics for DDX58 Gene

Regulatory Elements for DDX58 Gene

Enhancers for DDX58 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F032523 0.9 FANTOM5 ENCODE 22.1 +0.7 662 4.3 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF143 SP3 SP5 DDX58 GVQW1 NDUFB6 ACO1 SMU1 NFX1 LOC101060445
GH09F033023 0.2 ENCODE 15.8 -499.2 -499156 4.2 PKNOX1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 APTX SMU1 DDX58 B4GALT1 DFFBP1 CHMP5 TOPORS LAGE3P1 ASS1P12 DNAJA1
GH09F032500 0.7 Ensembl ENCODE 12.9 +24.2 24158 3.3 JUND JUN FOS ATF2 DDX58 GVQW1 LOC101060445
GH09F032558 0.2 Ensembl 12.9 -32.6 -32577 1.0 CTCF SAP130 SPI1 GABPA GVQW1 DDX58 TOPORS
GH09F032556 0.2 Ensembl 12.9 -30.6 -30577 0.6 SREBF1 JUNB DDX58 TOPORS GVQW1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DDX58 on UCSC Golden Path with GeneCards custom track

Promoters for DDX58 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001302176 424 2601 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF143 SP5 ZHX2

Genomic Location for DDX58 Gene

Chromosome:
9
Start:
32,455,302 bp from pter
End:
32,526,324 bp from pter
Size:
71,023 bases
Orientation:
Minus strand

Genomic View for DDX58 Gene

Genes around DDX58 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX58 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDX58 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX58 Gene

Proteins for DDX58 Gene

  • Protein details for DDX58 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95786-DDX58_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DDX58
    Protein Accession:
    O95786
    Secondary Accessions:
    • A2RU81
    • Q5HYE1
    • Q5VYT1
    • Q9NT04

    Protein attributes for DDX58 Gene

    Size:
    925 amino acids
    Molecular mass:
    106600 Da
    Quaternary structure:
    • Monomer; maintained as a monomer in an autoinhibited state. Upon viral dsRNA binding and conformation shift, homomultimerizes and interacts (via tandem CARD domain) with MAVS/IPS1 promoting its filamentation. Interacts with DHX58/LGP2, IKBKE, TBK1 and TMEM173/STING. Interacts (via CARD domain) with TRIM25 (via SPRY domain). Interacts with RNF135. Interacts with CYLD. Interacts with NLRC5; blocks the interaction of MAVS/IPS1 to DDX58. Interacts with SRC. Interacts with DDX60. Interacts with isoform 2 of ZC3HAV1 (via zinc-fingers) in an RNA-dependent manner. Interacts (via tandem CARD domain) with SEC14L1; the interaction is direct and impairs the interaction of DDX58 with MAVS/IPS1.
    • (Microbial infection) Interacts with protein Z of Guanarito virus, Machupo virus, Junin arenavirus and Sabia virus. This interaction disrupts its interaction with MAVS/IPS1, impeding downstream IRF3 and NF-kappa-B activation and resulting in decreased IFN-beta induction (PubMed:20007272).
    • (Microbial infection) Interacts (via CARD domain) with Human respiratory syncytial virus A non-structural protein 2 (NS2) and this interaction disrupts its interaction with MAVS/IPS1, impeding downstream IRF3 activation (PubMed:19193793).
    • (Microbial infection) Interacts with Rotavirus A non-structural protein 1 (NSP1) and this interaction induces down-regulation of DDX58/RIG-I (PubMed:22152002).
    • (Microbial infection) Interacts with herpes simplex virus 1 protein US11; this interaction prevents the interaction of MAVS/IPS1 to DDX58 (PubMed:22301138).

    Three dimensional structures from OCA and Proteopedia for DDX58 Gene

    Alternative splice isoforms for DDX58 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDX58 Gene

Post-translational modifications for DDX58 Gene

  • ISGylated. Conjugated to ubiquitin-like protein ISG15 upon IFN-beta stimulation. ISGylation negatively regulates its function in antiviral signaling response.
  • Phosphorylated in resting cells and dephosphorylated in RNA virus-infected cells. Phosphorylation at Thr-770, Ser-854 and Ser-855 results in inhibition of its activity while dephosphorylation at these sites results in its activation.
  • Sumoylated, probably by MUL1; inhibiting its polyubiquitination.
  • Ubiquitinated. Undergoes Lys-48- and Lys-63-linked ubiquitination. Lys-172 is the critical site for TRIM25-mediated ubiquitination, for MAVS/IPS1 binding and to induce anti-viral signal transduction. Lys-154, Lys-164 and Lys-172 are critical sites for RNF135-mediated and TRIM4-mediated ubiquitination. Deubiquitinated by CYLD, a protease that selectively cleaves Lys-63-linked ubiquitin chains. Also probably deubiquitinated by USP17L2/USP17 that cleaves Lys-48-and Lys-63-linked ubiquitin chains and positively regulates the receptor.
  • Ubiquitination at Lys 154, Lys 164, and Lys 172
  • Modification sites at PhosphoSitePlus

Other Protein References for DDX58 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DDX58 (DDX58)
  • Abcam antibodies for DDX58
  • Cloud-Clone Corp. Antibodies for DDX58
  • Santa Cruz Biotechnology (SCBT) Antibodies for DDX58

No data available for DME Specific Peptides for DDX58 Gene

Domains & Families for DDX58 Gene

Gene Families for DDX58 Gene

Graphical View of Domain Structure for InterPro Entry

O95786

UniProtKB/Swiss-Prot:

DDX58_HUMAN :
  • The RLR CTR domain controls homomultimerization and interaction with MAVS/IPS1. In the absence of viral infection, the protein is maintained as a monomer in an autoinhibited state with the CARD domains masked through intramolecular interactions mediated by the RLR CTR domain. Upon binding to viral RNA in the presence of ATP, the RLR CTR domain induces a conformational change exposing the CARD domain and promotes dimerization and CARD interactions with the adapter protein MAVS/IPS1 leading to the induction of downstream signaling.
  • Belongs to the helicase family. RLR subfamily.
Domain:
  • The RLR CTR domain controls homomultimerization and interaction with MAVS/IPS1. In the absence of viral infection, the protein is maintained as a monomer in an autoinhibited state with the CARD domains masked through intramolecular interactions mediated by the RLR CTR domain. Upon binding to viral RNA in the presence of ATP, the RLR CTR domain induces a conformational change exposing the CARD domain and promotes dimerization and CARD interactions with the adapter protein MAVS/IPS1 leading to the induction of downstream signaling.
  • The helicase domain is responsible for dsRNA recognition.
  • The 2 CARD domains are responsible for interaction with and signaling through MAVS/IPS1 and for association with the actin cytoskeleton.
  • The second CARD domain is the primary site for Lys-63-linked ubiquitination.
  • Contains 2 CARD domains.
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
  • Contains 1 RLR CTR (RLR C-terminal regulatory) domain.
Family:
  • Belongs to the helicase family. RLR subfamily.
genes like me logo Genes that share domains with DDX58: view

Function for DDX58 Gene

Molecular function for DDX58 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
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: 5-triphosphorylated ssRNA and dsRNA and short dsRNA (<1 kb in length). In addition to the 5-triphosphate moiety, blunt-end base pairing at the 5-end of the RNA is very essential. Overhangs at the non-triphosphorylated end of the dsRNA RNA have no major impact on its activity. A 3overhang at the 5triphosphate end decreases and any 5overhang at the 5 triphosphate end abolishes its activity. 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. Detects both positive and negative strand RNA viruses including members of the families Paramyxoviridae: Human respiratory syncytial virus and measles virus (MeV), Rhabdoviridae: vesicular stomatitis virus (VSV), Orthomyxoviridae: influenza A and B virus, Flaviviridae: Japanese encephalitis virus (JEV), hepatitis C virus (HCV), dengue virus (DENV) and west Nile virus (WNV). It also detects rotavirus and reovirus. Also involved in antiviral signaling in response to viruses containing a dsDNA genome such as Epstein-Barr virus (EBV). Detects dsRNA produced from non-self dsDNA by RNA polymerase III, such as Epstein-Barr virus-encoded RNAs (EBERs). May play important roles in granulocyte production and differentiation, bacterial phagocytosis and in the regulation of cell migration.
UniProtKB/Swiss-Prot Induction:
By bacterial lipopolysaccharides (LPS) in endothelial cells. By interferon (IFN).

Enzyme Numbers (IUBMB) for DDX58 Gene

Gene Ontology (GO) - Molecular Function for DDX58 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003690 double-stranded DNA binding IEA --
GO:0003723 RNA binding IEA --
GO:0003725 double-stranded RNA binding IEA,TAS 17079289
GO:0003727 single-stranded RNA binding IEA,IMP 19211564
genes like me logo Genes that share ontologies with DDX58: view
genes like me logo Genes that share phenotypes with DDX58: view

Human Phenotype Ontology for DDX58 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DDX58 Gene

MGI Knock Outs for DDX58:

Animal Model Products

miRNA for DDX58 Gene

miRTarBase miRNAs that target DDX58

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DDX58

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for DDX58 Gene

Localization for DDX58 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX58 Gene

Cytoplasm. Cell projection, ruffle membrane. Cytoplasm, cytoskeleton. Cell junction, tight junction. Note=Colocalized with TRIM25 at cytoplasmic perinuclear bodies. Associated with the actin cytoskeleton at membrane ruffles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DDX58 Gene COMPARTMENTS Subcellular localization image for DDX58 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 5
nucleus 3
endosome 2
mitochondrion 2
endoplasmic reticulum 1
extracellular 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for DDX58 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 21102435
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0005923 bicellular tight junction IEA,IDA 19122199
genes like me logo Genes that share ontologies with DDX58: view

Pathways & Interactions for DDX58 Gene

genes like me logo Genes that share pathways with DDX58: view

Pathways by source for DDX58 Gene

SIGNOR curated interactions for DDX58 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for DDX58 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002230 positive regulation of defense response to virus by host IMP 19609254
GO:0002376 immune system process IEA --
GO:0009597 detection of virus IDA 17079289
GO:0009615 response to virus IEA,TAS 21616437
GO:0010628 positive regulation of gene expression IDA 24409285
genes like me logo Genes that share ontologies with DDX58: view

Drugs & Compounds for DDX58 Gene

(3) Drugs for DDX58 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

(6) Additional Compounds for DDX58 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with DDX58: view

Transcripts for DDX58 Gene

mRNA/cDNA for DDX58 Gene

Unigene Clusters for DDX58 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 58:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DDX58

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DDX58 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: -
SP2: - - -
SP3: - -

Relevant External Links for DDX58 Gene

GeneLoc Exon Structure for
DDX58
ECgene alternative splicing isoforms for
DDX58

Expression for DDX58 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDX58 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDX58 Gene

This gene is overexpressed in Lymph node (14.5) and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DDX58 Gene



Protein tissue co-expression partners for DDX58 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DDX58 Gene:

DDX58

SOURCE GeneReport for Unigene cluster for DDX58 Gene:

Hs.190622

mRNA Expression by UniProt/SwissProt for DDX58 Gene:

O95786-DDX58_HUMAN
Tissue specificity: Present in vascular smooth cells (at protein level).
genes like me logo Genes that share expression patterns with DDX58: view

Primer Products

No data available for mRNA differential expression in normal tissues for DDX58 Gene

Orthologs for DDX58 Gene

This gene was present in the common ancestor of animals.

Orthologs for DDX58 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DDX58 34 35
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia DDX58 34 35
  • 87.46 (n)
cow
(Bos Taurus)
Mammalia DDX58 34 35
  • 86.32 (n)
mouse
(Mus musculus)
Mammalia Ddx58 34 16 35
  • 79.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DDX58 35
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DDX58 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx58 34
  • 59.23 (n)
worm
(Caenorhabditis elegans)
Secernentea drh-1 34 35
  • 45.61 (n)
drh-3 35
  • 18 (a)
ManyToMany
Species where no ortholog for DDX58 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for DDX58 Gene

ENSEMBL:
Gene Tree for DDX58 (if available)
TreeFam:
Gene Tree for DDX58 (if available)

Paralogs for DDX58 Gene

Paralogs for DDX58 Gene

(2) SIMAP similar genes for DDX58 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with DDX58: view

Variants for DDX58 Gene

Sequence variations from dbSNP and Humsavar for DDX58 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs786204847 Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298], Pathogenic 32,488,039(-) TGATG(A/C)ATGCC reference, missense
rs786204848 Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298], Pathogenic 32,488,884(-) AGGTT(G/T)TGGAA reference, missense
rs10114812 -- 32,484,627(+) CCTTC(C/T)CCAAT intron-variant
rs10363 -- 32,455,544(+) CTCCC(A/G)TCAGG upstream-variant-2KB, utr-variant-3-prime
rs10511907 -- 32,465,448(+) GTTAA(A/T)CTATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DDX58 Gene

Variant ID Type Subtype PubMed ID
esv3306635 CNV mobile element insertion 20981092
esv3308999 CNV mobile element insertion 20981092
esv3405462 CNV insertion 20981092
nsv1128469 CNV deletion 24896259
nsv519447 CNV loss 19592680
nsv831540 CNV gain 17160897

Variation tolerance for DDX58 Gene

Residual Variation Intolerance Score: 33.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.92; 79.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DDX58 Gene

Human Gene Mutation Database (HGMD)
DDX58
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDX58

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDX58 Gene

Disorders for DDX58 Gene

MalaCards: The human disease database

(22) MalaCards diseases for DDX58 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
singleton-merten syndrome 2
  • sgmrt2
singleton-merten dysplasia
  • singleton merten syndrome
singleton merten syndrome
  • merten-singleton syndrome
hepatitis c
  • chronic hepatitis c
influenza
  • flu
- elite association - COSMIC cancer census association via MalaCards
Search DDX58 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DDX58_HUMAN
  • Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298]: A form of Singleton-Merten syndrome, an autosomal dominant disorder characterized by marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extend glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. SGMRT2 is an atypical form characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies. {ECO:0000269 PubMed:25620203}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DDX58

Genetic Association Database (GAD)
DDX58
Human Genome Epidemiology (HuGE) Navigator
DDX58
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DDX58
genes like me logo Genes that share disorders with DDX58: view

No data available for Genatlas for DDX58 Gene

Publications for DDX58 Gene

  1. Rubella vaccine-induced cellular immunity: evidence of associations with polymorphisms in the Toll-like, vitamin A and D receptors, and innate immune response genes. (PMID: 19902255) Ovsyannikova I.G. … Poland G.A. (Hum. Genet. 2010) 3 22 46 64
  2. Riplet/RNF135, a RING finger protein, ubiquitinates RIG-I to promote interferon-beta induction during the early phase of viral infection. (PMID: 19017631) Oshiumi H. … Seya T. (J. Biol. Chem. 2009) 3 4 22 64
  3. Regulation of signal transduction by enzymatically inactive antiviral RNA helicase proteins MDA5, RIG-I, and LGP2. (PMID: 19211564) Bamming D. … Horvath C.M. (J. Biol. Chem. 2009) 3 4 22 64
  4. RIG-I-dependent sensing of poly(dA:dT) through the induction of an RNA polymerase III-transcribed RNA intermediate. (PMID: 19609254) Ablasser A. … Hornung V. (Nat. Immunol. 2009) 3 4 22 64
  5. Nonself RNA-sensing mechanism of RIG-I helicase and activation of antiviral immune responses. (PMID: 18242112) Takahasi K. … Fujita T. (Mol. Cell 2008) 3 4 22 64

Products for DDX58 Gene

Sources for DDX58 Gene

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