Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
103
Gene name Gene Name - the full gene name approved by the HGNC.
Adenosine deaminase RNA specific
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADAR
Synonyms (NCBI Gene) Gene synonyms aliases
ADAR1, AGS6, DRADA, DSH, DSRAD, G1P1, IFI-4, IFI4, K88DSRBP, P136
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
Summary Summary of gene provided in NCBI Entrez 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 s
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28936680 A>G Pathogenic Coding sequence variant, missense variant
rs121912421 G>A Pathogenic Stop gained, coding sequence variant
rs121912422 T>A Pathogenic Stop gained, coding sequence variant
rs121912423 G>A,C,T Pathogenic Stop gained, missense variant, coding sequence variant
rs145588689 G>C,T Pathogenic, conflicting-interpretations-of-pathogenicity Coding sequence variant, 5 prime UTR variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002820 hsa-miR-1-3p pSILAC 18668040
MIRT002820 hsa-miR-1-3p Luciferase reporter assay, Microarray 15685193
MIRT020248 hsa-miR-130b-3p Sequencing 20371350
MIRT002820 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT002820 hsa-miR-1-3p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001649 Process Osteoblast differentiation IEA
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
GO:0002376 Process Immune system process IEA
GO:0002566 Process Somatic diversification of immune receptors via somatic mutation IEA
GO:0003677 Function DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
146920 225 ENSG00000160710
Protein
UniProt ID P55265
Protein name Double-stranded RNA-specific adenosine deaminase (DRADA) (EC 3.5.4.37) (136 kDa double-stranded RNA-binding protein) (p136) (Interferon-inducible protein 4) (IFI-4) (K88DSRBP)
Protein function Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing (PubMed:12618436, PubMed:7565688, PubMed:7972084). This may affect gene expression and function in a number of ways tha
PDB 1QBJ , 1QGP , 1XMK , 2ACJ , 2GXB , 2L54 , 2MDR , 3F21 , 3F22 , 3F23 , 3IRQ , 3IRR , 5ZU1 , 5ZUO , 5ZUP , 7C0I , 7ZJ1 , 7ZLQ , 8GBC , 8GBD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02295 z-alpha 135 201 Adenosine deaminase z-alpha domain Domain
PF02295 z-alpha 295 359 Adenosine deaminase z-alpha domain Domain
PF00035 dsrm 504 569 Double-stranded RNA binding motif Domain
PF00035 dsrm 615 680 Double-stranded RNA binding motif Domain
PF00035 dsrm 727 792 Double-stranded RNA binding motif Domain
PF02137 A_deamin 886 1215 Adenosine-deaminase (editase) domain Family
Tissue specificity 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 t
Sequence
MNPRQGYSLSGYYTHPFQGYEHRQLRYQQPGPGSSPSSFLLKQIEFLKGQLPEAPVIGKQ
TPSLPPSLPGLRPRFPVLLASSTRGRQVDIRGVPRGVHLRSQGLQRGFQHPSPRGRSLPQ
RGVDCLSSHFQELSIYQDQEQRILKFLEELGEGKATTAHDLSGKLGTPKKEINRVLYSLA
KKGKLQKEAGTPPLWKIAVST
QAWNQHSGVVRPDGHSQGAPNSDPSLEPEDRNSTSVSED
LLEPFIAVSAQAWNQHSGVVRPDSHSQGSPNSDPGLEPEDSNSTSALEDPLEFLDMAEIK
EKICDYLFNVSDSSALNLAKNIGLTKARDINAVLIDMERQGDVYRQGTTPPIWHLTDKK
R
ERMQIKRNTNSVPETAPAAIPETKRNAEFLTCNIPTSNASNNMVTTEKVENGQEPVIKLE
NRQEARPEPARLKPPVHYNGPSKAGYVDFENGQWATDDIPDDLNSIRAAPGEFRAIMEMP
SFYSHGLPRCSPYKKLTECQLKNPISGLLEYAQFASQTCEFNMIEQSGPPHEPRFKFQVV
INGREFPPAEAGSKKVAKQDAAMKAMTIL
LEEAKAKDSGKSEESSHYSTEKESEKTAESQ
TPTPSATSFFSGKSPVTTLLECMHKLGNSCEFRLLSKEGPAHEPKFQYCVAVGAQTFPSV
SAPSKKVAKQMAAEEAMKAL
HGEATNSMASDNQPEGMISESLDNLESMMPNKVRKIGELV
RYLNTNPVGGLLEYARSHGFAAEFKLVDQSGPPHEPKFVYQAKVGGRWFPAVCAHSKKQG
KQEAADAALRVL
IGENEKAERMGFTEVTPVTGASLRRTMLLLSRSPEAQPKTLPLTGSTF
HDQIAMLSHRCFNTLTNSFQPSLLGRKILAAIIMKKDSEDMGVVVSLGTGNRCVKGDSLS
LKGETVNDCHAEIISRRGFIRFLYSELMKYNSQTAKDSIFEPAKGGEKLQIKKTVSFHLY
ISTAPCGDGALFDKSCSDRAMESTESRHYPVFENPKQGKLRTKVENGEGTIPVESSDIVP
TWDGIRLGERLRTMSCSDKILRWNVLGLQGALLTHFLQPIYLKSVTLGYLFSQGHLTRAI
CCRVTRDGSAFEDGLRHPFIVNHPKVGRVSIYDSKRQSGKTKETSVNWCLADGYDLEILD
GTRGTVDGPRNELSRVSKKNIFLLFKKLCSFRYRRDLLRLSYGEAKKAARDYETAKNYFK
KGLKDMGYGNWISKP
QEEKNFYLCPV
Sequence length 1226
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
Measles
Influenza A
Coronavirus disease - COVID-19
  C6 deamination of adenosine
Formation of editosomes by ADAR proteins
Interferon alpha/beta signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Aicardi Goutieres Syndrome aicardi-goutieres syndrome 6 rs398122895, rs1180888940, rs398122896, rs398122897, rs398122898, rs768943773, rs1553207540, rs779357448, rs398122893, rs1571046959, rs398122894, rs1571110158, rs398122822 N/A
Symmetrical Dyschromatosis Of Extremities symmetrical dyschromatosis of extremities rs121912421, rs28936680, rs121912422, rs28936681, rs121912423, rs387906541, rs1571050825, rs398122822, rs1571110353 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cholelithiasis Cholelithiasis N/A N/A GWAS
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Microcephaly microcephaly N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 28362255, 28928239, 29273356, 32277007, 37162299, 38052548
Aicardi Goutieres syndrome Associate 23592335, 24183309, 25604658, 25769924, 28139822, 28362255, 28561207, 29395325, 29959219, 30590609, 31320745, 31559893, 32958664, 32996714, 33482855
View all (8 more)
Aicardi Syndrome Associate 26629815
Arthritis Rheumatoid Associate 31493964
Asthma Associate 33446603
Autoimmune Diseases Associate 26629815, 37665999, 38190734
Autoimmune Diseases of the Nervous System Associate 34940992
Baraitser Brett Piesowicz syndrome Associate 28139822, 28561207
Brain Diseases Associate 35571247
Breast Neoplasms Associate 26440892, 28188287, 28833069, 30290838, 30590609, 32275931, 32907379, 36077054, 36921992, 37221310, 37264406, 40381037