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Aliases for ADAR Gene

Aliases for ADAR Gene

  • Adenosine Deaminase, RNA Specific 2 3 5
  • 136 KDa Double-Stranded RNA-Binding Protein 3 4
  • Interferon-Inducible Protein 4 3 4
  • Interferon-Induced Protein 4 2 3
  • K88DSRBP 3 4
  • ADAR1 3 4
  • DRADA 3 4
  • DSRAD 3 4
  • IFI-4 3 4
  • P136 3 4
  • G1P1 3 4
  • IFI4 3 4
  • Double-Stranded RNA-Specific Adenosine Deaminase 3
  • Adenosine Deaminase Acting On RNA 1-A 3
  • DsRNA Adeonosine Deaminase 3
  • DsRNA Adenosine Deaminase 3
  • EC 3.5.4.37 4
  • EC 3.5.4 61
  • AGS6 3
  • DSH 3

External Ids for ADAR Gene

Previous HGNC Symbols for ADAR Gene

  • IFI4
  • G1P1

Previous GeneCards Identifiers for ADAR Gene

  • GC01M152370
  • GC01M150285
  • GC01M151329
  • GC01M151772
  • GC01M151773
  • GC01M151367
  • GC01M152821
  • GC01M125917

Summaries for ADAR Gene

Entrez Gene Summary for ADAR Gene

  • This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

GeneCards Summary for ADAR Gene

ADAR (Adenosine Deaminase, RNA Specific) is a Protein Coding gene. Diseases associated with ADAR include Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutieres Syndrome 6. Among its related pathways are Interferon gamma signaling and Immune System. GO annotations related to this gene include poly(A) RNA binding and adenosine deaminase activity. An important paralog of this gene is ADARB2.

UniProtKB/Swiss-Prot for ADAR Gene

  • Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependent activities such as microRNA production or targeting or protein-RNA interactions. Can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing). Its cellular RNA substrates include: bladder cancer-associated protein (BLCAP), neurotransmitter receptors for glutamate (GRIA2) and serotonin (HTR2C) and GABA receptor (GABRA3). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alters their functional activities. Exhibits low-level editing at the GRIA2 Q/R site, but edits efficiently at the R/G site and HOTSPOT1. Its viral RNA substrates include: hepatitis C virus (HCV), vesicular stomatitis virus (VSV), measles virus (MV), hepatitis delta virus (HDV), and human immunodeficiency virus type 1 (HIV-1). Exhibits either a proviral (HDV, MV, VSV and HIV-1) or an antiviral effect (HCV) and this can be editing-dependent (HDV and HCV), editing-independent (VSV and MV) or both (HIV-1). Impairs HCV replication via RNA editing at multiple sites. Enhances the replication of MV, VSV and HIV-1 through an editing-independent mechanism via suppression of EIF2AK2/PKR activation and function. Stimulates both the release and infectivity of HIV-1 viral particles by an editing-dependent mechanism where it associates with viral RNAs and edits adenosines in the 5UTR and the Rev and Tat coding sequence. Can enhance viral replication of HDV via A-to-I editing at a site designated as amber/W, thereby changing an UAG amber stop codon to an UIG tryptophan (W) codon that permits synthesis of the large delta antigen (L-HDAg) which has a key role in the assembly of viral particles. However, high levels of ADAR1 inhibit HDV replication.

Gene Wiki entry for ADAR Gene

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

Genomics for ADAR Gene

Regulatory Elements for ADAR Gene

Enhancers for ADAR 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
GH01F154998 1.6 FANTOM5 ENCODE 12.4 -376.4 -376439 11.3 MLX CREB3L1 ZFP64 FEZF1 YBX1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 KIAA0907 THBS3 ENSG00000271267 RUSC1-AS1 ASH1L-AS1 MSTO2P KRTCAP2 ZBTB7B LOC101928120 EFNA4
GH01F154855 1.6 FANTOM5 Ensembl ENCODE 11.6 -232.2 -232177 8.8 HDGF PKNOX1 ATF1 WRNIP1 SIN3A GLIS2 GATA2 ELK1 ZNF143 JUNB KCNN3 ADAR UBE2Q1 UBE2Q1-AS1 PBXIP1 RUSC1 MUC1 FDPS ADAM15 PMVK
GH01F154606 1.5 FANTOM5 ENCODE 10 +19.5 19549 4.1 HDGF WRNIP1 ARID4B SIN3A YBX1 FEZF1 ZNF2 YY1 ZNF207 ZNF263 ENSG00000271267 CHRNB2 MIR4258 DAP3P1 RUSC1-AS1 NUP210L CHTOP DPM3 EFNA4 UBE2Q1
GH01F154489 1.6 FANTOM5 Ensembl ENCODE 9.3 +134.2 134213 8.0 ATF1 PKNOX1 YY1 GATA2 ZNF548 FOS JUNB ZNF488 REST TBX21 SLC27A3 TDRD10 CHTOP KRTCAP2 SHE THBS3 DCST1 UBE2Q1-AS1 UBE2Q1 ENSG00000272030
GH01F154585 1.2 ENCODE 11.1 +41.6 41623 1.1 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YBX1 YY1 KRTCAP2 THBS3 RAB13 NPR1 ENSG00000271267 DCST1 SLC27A3 UBE2Q1 ADAR UBE2Q1-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADAR on UCSC Golden Path with GeneCards custom track

Promoters for ADAR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000080036 313 1801 ARNT MLX WRNIP1 ARID4B SIN3A DMAP1 SLC30A9 CBX5 ZNF143 FOS

Genomic Location for ADAR Gene

Chromosome:
1
Start:
154,582,057 bp from pter
End:
154,628,013 bp from pter
Size:
45,957 bases
Orientation:
Minus strand

Genomic View for ADAR Gene

Genes around ADAR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ADAR Gene

Proteins for ADAR Gene

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

    Protein Symbol:
    P55265-DSRAD_HUMAN
    Recommended name:
    Double-stranded RNA-specific adenosine deaminase
    Protein Accession:
    P55265
    Secondary Accessions:
    • B1AQQ9
    • B1AQR0
    • D3DV76
    • O15223
    • O43859
    • O43860
    • Q9BYM3
    • Q9BYM4

    Protein attributes for ADAR Gene

    Size:
    1226 amino acids
    Molecular mass:
    136066 Da
    Quaternary structure:
    • Homodimer. Homodimerization is essential for its catalytic activity. Isoform 5 can form heterodimers with ADARB1/ADAR2. Isoform 1 interacts with ILF2/NF45 and ILF3/NF90. Binding to ILF3/NF90 up-regulates ILF3-mediated gene expression. Isoform 5 (via DRBM 3 domain) interacts with TNPO1. Isoform 5 (via DRBM domains) interacts with XPO5. Isoform 1 and isoform 5 can interact with EIF2AK2/PKR and UPF1.
    SequenceCaution:
    • Sequence=CAE45853.1; Type=Erroneous termination; Positions=1227; Note=Translated as stop.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADAR Gene

    Alternative splice isoforms for ADAR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAR Gene

Selected DME Specific Peptides for ADAR Gene

P55265:
  • QSGPPHEP
  • GEGTIPV
  • WNVLGLQGALL
  • SLGTGNRC

Post-translational modifications for ADAR Gene

  • Sumoylation reduces RNA-editing activity.
  • Ubiquitination at Lys 145, Lys 625, and Lys 757
  • Modification sites at PhosphoSitePlus

Domains & Families for ADAR Gene

Gene Families for ADAR Gene

Graphical View of Domain Structure for InterPro Entry

P55265

UniProtKB/Swiss-Prot:

DSRAD_HUMAN :
  • Contains 1 A to I editase domain.
  • Contains 2 DRADA repeats.
Domain:
  • Contains 1 A to I editase domain.
  • Contains 3 DRBM (double-stranded RNA-binding) domains.
Similarity:
  • Contains 2 DRADA repeats.
genes like me logo Genes that share domains with ADAR: view

Function for ADAR Gene

Molecular function for ADAR Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Adenine in double-stranded RNA + H(2)O = hypoxanthine in double-stranded RNA + NH(3).
UniProtKB/Swiss-Prot Function:
Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependent activities such as microRNA production or targeting or protein-RNA interactions. Can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing). Its cellular RNA substrates include: bladder cancer-associated protein (BLCAP), neurotransmitter receptors for glutamate (GRIA2) and serotonin (HTR2C) and GABA receptor (GABRA3). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alters their functional activities. Exhibits low-level editing at the GRIA2 Q/R site, but edits efficiently at the R/G site and HOTSPOT1. Its viral RNA substrates include: hepatitis C virus (HCV), vesicular stomatitis virus (VSV), measles virus (MV), hepatitis delta virus (HDV), and human immunodeficiency virus type 1 (HIV-1). Exhibits either a proviral (HDV, MV, VSV and HIV-1) or an antiviral effect (HCV) and this can be editing-dependent (HDV and HCV), editing-independent (VSV and MV) or both (HIV-1). Impairs HCV replication via RNA editing at multiple sites. Enhances the replication of MV, VSV and HIV-1 through an editing-independent mechanism via suppression of EIF2AK2/PKR activation and function. Stimulates both the release and infectivity of HIV-1 viral particles by an editing-dependent mechanism where it associates with viral RNAs and edits adenosines in the 5UTR and the Rev and Tat coding sequence. Can enhance viral replication of HDV via A-to-I editing at a site designated as amber/W, thereby changing an UAG amber stop codon to an UIG tryptophan (W) codon that permits synthesis of the large delta antigen (L-HDAg) which has a key role in the assembly of viral particles. However, high levels of ADAR1 inhibit HDV replication.
UniProtKB/Swiss-Prot Induction:
Isoform 1 is induced by interferon alpha. Isoform 5 is constitutively expressed.

Enzyme Numbers (IUBMB) for ADAR Gene

Gene Ontology (GO) - Molecular Function for ADAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding IEA --
GO:0003726 double-stranded RNA adenosine deaminase activity IEA,TAS --
GO:0004000 adenosine deaminase activity IEA --
GO:0005515 protein binding IPI 18362360
genes like me logo Genes that share ontologies with ADAR: view
genes like me logo Genes that share phenotypes with ADAR: view

Human Phenotype Ontology for ADAR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADAR Gene

MGI Knock Outs for ADAR:

Animal Model Products

miRNA for ADAR Gene

miRTarBase miRNAs that target ADAR

Flow Cytometry Products

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

Localization for ADAR Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAR Gene

Isoform 1: Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and nucleus.
Isoform 5: Cytoplasm. Nucleus. Nucleus, nucleolus. Note=Predominantly nuclear but can shuttle between nucleus and cytoplasm. TNPO1 can mediate its nuclear import whereas XPO1 can mediate its nuclear export.

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 ADAR gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ADAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,TAS 7565688
GO:0005654 nucleoplasm IDA,TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA,TAS 7565688
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ADAR: view

Pathways & Interactions for ADAR Gene

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

Pathways by source for ADAR Gene

3 KEGG pathways for ADAR Gene
1 GeneGo (Thomson Reuters) pathway for ADAR Gene

Gene Ontology (GO) - Biological Process for ADAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IEA --
GO:0001701 in utero embryonic development IEA --
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0002376 immune system process IEA --
GO:0002566 somatic diversification of immune receptors via somatic mutation IEA --
genes like me logo Genes that share ontologies with ADAR: view

No data available for SIGNOR curated interactions for ADAR Gene

Drugs & Compounds for ADAR Gene

(6) Drugs for ADAR Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for ADAR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ADAR: view

Transcripts for ADAR Gene

Unigene Clusters for ADAR Gene

Adenosine deaminase, RNA-specific:
Representative Sequences:

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ·
SP1: - -
SP2: -
SP3: - - - - -
SP4: -
SP5: -
SP6:
SP7: - - - - -
SP8: - - - -
SP9: - - -
SP10:
SP11: - -
SP12: - - - - -
SP13:

ExUns: 18c ^ 19a · 19b ^ 20a · 20b · 20c ^ 21a · 21b ^ 22a · 22b ^ 23
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ADAR Gene

GeneLoc Exon Structure for
ADAR
ECgene alternative splicing isoforms for
ADAR

Expression for ADAR Gene

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

Protein differential expression in normal tissues from HIPED for ADAR Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.6) and Tlymphocyte (7.0).

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



Protein tissue co-expression partners for ADAR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADAR Gene:

ADAR

SOURCE GeneReport for Unigene cluster for ADAR Gene:

Hs.12341

mRNA Expression by UniProt/SwissProt for ADAR Gene:

P55265-DSRAD_HUMAN
Tissue specificity: Ubiquitously expressed, highest levels were found in brain and lung. Isoform 5 is expressed at higher levels in astrocytomas as compared to normal brain tissue and expression increases strikingly with the severity of the tumor, being higher in the most aggressive tumors.
genes like me logo Genes that share expression patterns with ADAR: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ADAR Gene

Orthologs for ADAR Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAR 34 35
  • 99.71 (n)
cow
(Bos Taurus)
Mammalia ADAR 34 35
  • 87.01 (n)
dog
(Canis familiaris)
Mammalia ADAR 34 35
  • 82.95 (n)
rat
(Rattus norvegicus)
Mammalia Adar 34
  • 82.24 (n)
mouse
(Mus musculus)
Mammalia Adar 34 16 35
  • 81.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADAR 35
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADAR 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAR 34 35
  • 62.87 (n)
lizard
(Anolis carolinensis)
Reptilia ADAR 35
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adar 34
  • 57.73 (n)
Str.3278 34
African clawed frog
(Xenopus laevis)
Amphibia adar-A-prov 34
zebrafish
(Danio rerio)
Actinopterygii adar 34 35
  • 54.91 (n)
worm
(Caenorhabditis elegans)
Secernentea adr-1 36
  • 34 (a)
Species where no ortholog for ADAR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 ADAR Gene

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

Paralogs for ADAR Gene

Paralogs for ADAR Gene

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

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

Variants for ADAR Gene

Sequence variations from dbSNP and Humsavar for ADAR Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs144119808 A breast cancer sample 154,590,263(+) TTACC(A/T)CTGTG reference, missense
rs145588689 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010], Pathogenic 154,602,065(+) CAAAG(C/G)GGGTG reference, missense, utr-variant-5-prime
rs28936680 Pathogenic, Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400] 154,588,668(-) GTTTC(C/T)CTACA reference, missense
rs28936681 Pathogenic, Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400] 154,584,993(-) TCTAT(C/T)TAAGA reference, missense
rs398122822 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010], other 154,588,125(-) AGAAC(A/G)GTGAG reference, missense

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

Variant ID Type Subtype PubMed ID
esv2658585 CNV deletion 23128226
esv32568 CNV loss 17666407
esv33112 CNV gain 17666407
esv33703 CNV loss 17666407
esv3587607 CNV loss 21293372
nsv1161683 CNV duplication 26073780
nsv464050 CNV gain 19166990
nsv470740 CNV gain 18288195
nsv472265 CNV novel sequence insertion 20440878
nsv521887 CNV gain 19592680
nsv547958 CNV gain 21841781

Variation tolerance for ADAR Gene

Residual Variation Intolerance Score: 1.72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAR Gene

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

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

Disorders for ADAR Gene

MalaCards: The human disease database

(18) MalaCards diseases for ADAR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dyschromatosis symmetrica hereditaria
  • reticulate acropigmentation of dohi
aicardi-goutieres syndrome 6
  • cree encephalitis
dyschromatosis universalis hereditaria 3
  • dyschromatosis symmetrica hereditaria
familial infantile bilateral striatal necrosis
  • familial ibsn
adar-related aicardi-goutieres syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ADAR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DSRAD_HUMAN
  • Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]: 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:23001123}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]: An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and the dorsal parts of the hands and feet, that appear in infancy or early childhood. {ECO:0000269 PubMed:12916015, ECO:0000269 PubMed:15146470, ECO:0000269 PubMed:15659327}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ADAR

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

No data available for Genatlas for ADAR Gene

Publications for ADAR Gene

  1. Molecular cloning of cDNA for double-stranded RNA adenosine deaminase, a candidate enzyme for nuclear RNA editing. (PMID: 7972084) Kim U. … Nishikura K. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 22 64
  2. Editing of HIV-1 RNA by the double-stranded RNA deaminase ADAR1 stimulates viral infection. (PMID: 19651874) Doria M. … Michienzi A. (Nucleic Acids Res. 2009) 3 4 22 64
  3. RNA-regulated interaction of transportin-1 and exportin-5 with the double-stranded RNA-binding domain regulates nucleocytoplasmic shuttling of ADAR1. (PMID: 19124606) Fritz J. … Jantsch M.F. (Mol. Cell. Biol. 2009) 3 4 22 64
  4. ADAR1 interacts with PKR during human immunodeficiency virus infection of lymphocytes and contributes to viral replication. (PMID: 19605474) Clerzius G. … Gatignol A. (J. Virol. 2009) 3 4 22 64
  5. RNA-specific adenosine deaminase ADAR1 suppresses measles virus- induced apoptosis and activation of protein kinase PKR. (PMID: 19710021) Toth A.M. … Samuel C.E. (J. Biol. Chem. 2009) 3 4 22 64

Products for ADAR Gene

Sources for ADAR Gene

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