Gene Gene information from NCBI Gene database.
Entrez ID 103
Gene name Adenosine deaminase RNA specific
Gene symbol ADAR
Synonyms (NCBI Gene)
ADAR1AGS6DRADADSHDSRADG1P1IFI-4IFI4K88DSRBPP136
Chromosome 1
Chromosome location 1q21.3
Summary 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.
35
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.
1432
miRTarBase ID miRNA Experiments Reference
MIRT002820 hsa-miR-1-3p pSILAC 18668040
MIRT002820 hsa-miR-1-3p Luciferase reporter assayMicroarray 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
69
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
146920 225 ENSG00000160710
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
33
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ADAR-related disorder Pathogenic; Likely pathogenic rs1364222107, rs2526646459 RCV004531648
RCV004529639
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ADAR-related type 1 interferonopathy Likely pathogenic; Pathogenic rs779357448 RCV005357822
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aicardi-Goutieres syndrome 6 Pathogenic; Likely pathogenic rs2101576292, rs2101588892, rs2101563488, rs2101565765, rs2101579172, rs2101642015, rs768943773, rs2101644365, rs2101641985, rs2101619771, rs2101645916, rs1322905273, rs2101641171, rs2101589045, rs1226569632
View all (41 more)
RCV001386758
RCV001386291
RCV001542546
RCV001542547
RCV001542548
View all (51 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral calcification Pathogenic rs1180888940 RCV005411632
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aicardi Goutieres syndrome Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired porencephaly Acquired Porencephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute encephalopathy Encephalopathy BEFREE 29221912
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 21316340
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 16343215
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29273356
★☆☆☆☆
Found in Text Mining only
Aicardi Goutieres syndrome Aicardi goutieres syndrome Pubtator 23592335, 24183309, 25604658, 25769924, 28139822, 28362255, 28561207, 29395325, 29959219, 30590609, 31320745, 31559893, 32958664, 32996714, 33482855
View all (8 more)
Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aicardi Syndrome Aicardi syndrome Pubtator 26629815 Associate
★☆☆☆☆
Found in Text Mining only
Aicardi Goutieres Syndrome Orphanet
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 23001123, 23744109, 24183309, 24262145, 24376015, 25172485, 25456137, 28913566, 29030706, 29221912, 29395325, 29525183, 29959219, 30391332, 30590609
View all (1 more)
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome ORPHANET_DG 23001123
★★☆☆☆
Found in Text Mining + Unknown/Other Associations