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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 56
  • 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 Cytokine Signaling in Immune system and Innate Immune System. Gene Ontology (GO) annotations related to this gene include 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 (PubMed:7972084, PubMed:7565688, PubMed:12618436). 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

Additional gene information for ADAR Gene

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

Genomics for ADAR Gene

GeneHancer (GH) Regulatory Elements for ADAR Gene

Promoters and enhancers for ADAR 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
GH01I154606 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 560 +19.5 19548 4.1 HDGF ARNT ARID4B NEUROD1 SIN3A FEZF1 YBX1 ZNF2 IRF4 YY1 ADAR CLK2 CHTOP ILF2 ASH1L-AS1 ENSG00000271267 CHRNB2 RUSC1-AS1 CRTC2 UBAP2L
GH01I154626 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 556.3 +0.5 541 2.6 HDGF SMAD1 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ADAR UBAP2L ENSG00000271267 CLK2 INTS3 LOC101928120 SLC27A3 CHTOP MSTO1 ATP8B2
GH01I154629 Enhancer 1.1 ENCODE dbSUPER 550.8 -1.4 -1357 0.1 ATF1 ARNT TCF12 ZNF766 ATF7 NCOA1 REST MEF2D SMARCA4 NBN ADAR GC01P154693
GH01I154998 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.4 -376.4 -376438 11.3 CLOCK MLX YBX1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 ZBTB7B GON4L CLK2 UBAP2L KHDC4 ENSG00000271267 RUSC1-AS1 MSTO1 THBS3 MSTO2P
GH01I154857 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.6 -232.8 -232773 5.7 HDGF PKNOX1 IRF4 ZNF766 GLIS2 ZNF207 ZNF143 ATF7 RUNX3 JUNB KCNN3 ADAR PBXIP1 RUSC1 MUC1 FDPS PMVK RUSC1-AS1 CLK2 PIR50309
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADAR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAR gene promoter:

Genomic Locations for ADAR Gene

Genomic Locations for ADAR Gene
chr1:154,582,057-154,628,013
(GRCh38/hg38)
Size:
45,957 bases
Orientation:
Minus strand
chr1:154,554,533-154,600,475
(GRCh37/hg19)

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 (PubMed:12618436). Isoform 5 can form heterodimers with ADARB1/ADAR2. Isoform 1 interacts with ILF2/NF45 and ILF3/NF90 (PubMed:16055709). Binding to ILF3/NF90 up-regulates ILF3-mediated gene expression. Isoform 1 and isoform 5 (via DRBM 3 domain) interact with TNPO1 (PubMed:19124606, PubMed:24753571). Isoform 5 (via DRBM domains) interacts with XPO5 (PubMed:19124606). Isoform 1 and isoform 5 can interact with EIF2AK2/PKR and UPF1 (PubMed:17079286, PubMed:18362360).
    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

Domains & Families for ADAR Gene

Gene Families for ADAR Gene

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

Graphical View of Domain Structure for InterPro Entry

P55265

UniProtKB/Swiss-Prot:

DSRAD_HUMAN :
  • The first DRADA repeat binds Z-DNA.
Domain:
  • The first DRADA repeat binds Z-DNA.
  • The third dsRNA-binding domain (DRBM 3) contains an additional N-terminal alpha-helix that is part of a bi-partite nuclear localization signal, together with the sequence immediately C-terminal to DRBM 3. The presence of DRBM 3 is important to bring together the N-terminal and the C-terminal part of the bi-partite nuclear localization signal for import mediated by TNPO1 (PubMed:24753571). RNA binding interferes with nuclear import (PubMed:19124606, PubMed:24753571).
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 (PubMed:7972084, PubMed:7565688, PubMed:12618436). 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

Phenotypes From GWAS Catalog 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,HDA 22658674
GO:0003726 double-stranded RNA adenosine deaminase activity TAS,IEA --
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

Clone Products

  • Addgene plasmids for ADAR

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 (PubMed:7565688, PubMed:24753571). Nuclear import is mediated by TNPO1 (PubMed:24753571). {ECO:0000269 PubMed:24753571, ECO:0000269 PubMed:7565688}.
Isoform 5: Cytoplasm. Nucleus. Nucleus, nucleolus. Note=Predominantly nuclear but can shuttle between nucleus and cytoplasm. TNPO1 can mediate its nuclear import whereas XPO5 can mediate its nuclear export. {ECO:0000269 PubMed:19124606}.

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleus (4)
See all subcellular structures

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 TAS,IDA 7565688
GO:0016020 membrane HDA,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:

Clone Products

  • Addgene plasmids for ADAR

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 CGAP 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 (PubMed:7972084). 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.

Evidence on tissue expression from TISSUES for ADAR Gene

  • Nervous system(5)
  • Liver(4.7)
  • Kidney(4.6)
  • Intestine(3.8)
  • Lung(3.8)
  • Blood(3.1)
  • Skin(3)
  • Eye(2.9)
  • Heart(2.3)
  • Spleen(2.2)
  • Muscle(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
Thorax:
  • chest wall
  • esophagus
Abdomen:
  • abdominal wall
  • liver
  • spleen
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
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 33 34
  • 99.71 (n)
cow
(Bos Taurus)
Mammalia ADAR 33 34
  • 87.01 (n)
dog
(Canis familiaris)
Mammalia ADAR 33 34
  • 82.95 (n)
rat
(Rattus norvegicus)
Mammalia Adar 33
  • 82.24 (n)
mouse
(Mus musculus)
Mammalia Adar 33 16 34
  • 81.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADAR 34
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADAR 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAR 33 34
  • 62.87 (n)
lizard
(Anolis carolinensis)
Reptilia ADAR 34
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adar 33
  • 57.73 (n)
Str.3278 33
African clawed frog
(Xenopus laevis)
Amphibia adar-A-prov 33
zebrafish
(Danio rerio)
Actinopterygii adar 33 34
  • 54.91 (n)
worm
(Caenorhabditis elegans)
Secernentea adr-1 35
  • 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 Variation AA Info Type
rs1040688613 uncertain-significance, Symmetrical dyschromatosis of extremities 154,608,077(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1044845711 symmetrica hereditaria (DSH) [MIM:127400] 154,585,024(-) G/A coding_sequence_variant, missense_variant
rs1127309 benign, not specified, Symmetrical dyschromatosis of extremities 154,589,449(-) C/A/T coding_sequence_variant, synonymous_variant
rs1127311 benign, Symmetrical dyschromatosis of extremities 154,584,187(-) G/A 3_prime_UTR_variant
rs1127313 benign, Symmetrical dyschromatosis of extremities 154,583,949(-) G/A 3_prime_UTR_variant

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

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

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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dyschromatosis symmetrica hereditaria
  • dsh
aicardi-goutieres syndrome 6
  • aicardi-goutieres syndrome 1
familial infantile bilateral striatal necrosis
  • familial ibsn
aicardi-goutieres syndrome
  • cree encephalitis
dyschromatosis universalis hereditaria 3
  • dyschromatosis symmetrica hereditaria
- 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.

Additional Disease Information for ADAR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 22 58
  2. RNA-specific adenosine deaminase ADAR1 suppresses measles virus-induced apoptosis and activation of protein kinase PKR. (PMID: 19710021) Toth AM … Samuel CE (The Journal of biological chemistry 2009) 3 4 22 58
  3. Editing of HIV-1 RNA by the double-stranded RNA deaminase ADAR1 stimulates viral infection. (PMID: 19651874) Doria M … Michienzi A (Nucleic acids research 2009) 3 4 22 58
  4. ADAR1 interacts with PKR during human immunodeficiency virus infection of lymphocytes and contributes to viral replication. (PMID: 19605474) Clerzius G … Gatignol A (Journal of virology 2009) 3 4 22 58
  5. 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 MF (Molecular and cellular biology 2009) 3 4 22 58

Products for ADAR Gene

Sources for ADAR Gene