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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2510
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ADAR-related disorder Pathogenic; Likely pathogenic rs1364222107, rs2526646459 RCV004531648
RCV004529639
ADAR-related type 1 interferonopathy Likely pathogenic; Pathogenic rs779357448 RCV005357822
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
RCV001542549
RCV000114429
RCV001941756
RCV002035306
RCV001994475
RCV001876698
RCV001946795
RCV001949440
RCV001965011
RCV003073562
RCV002634310
RCV002648203
RCV002736111
RCV002801580
RCV002801227
RCV002806395
RCV002871019
RCV002837610
RCV002851424
RCV002857778
RCV002999631
RCV003764577
RCV003780949
RCV003780952
RCV003780123
RCV003780820
RCV003807976
RCV003806595
RCV003793722
RCV003802938
RCV003817922
RCV003809960
RCV003810463
RCV003991104
RCV000032651
RCV000032652
RCV000032654
RCV000032655
RCV000032656
RCV000032657
RCV000032658
RCV000578411
RCV005213331
RCV000694985
RCV000706660
RCV000822752
RCV000805021
RCV000851395
RCV001827169
RCV001231793
RCV001332834
Cerebral calcification Pathogenic rs1180888940 RCV005411632
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity rs190881240 RCV005891491
Aicardi Goutieres syndrome Conflicting classifications of pathogenicity rs145588689 RCV000352411
Cervical cancer Likely benign rs752746420 RCV005921154
Colorectal cancer protective rs2131902 RCV002280587
Associations from Text MiningDisease 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