Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
104
Gene name Gene Name - the full gene name approved by the HGNC.
Adenosine deaminase RNA specific B1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADARB1
Synonyms (NCBI Gene) Gene synonyms aliases
ADAR2, DRABA2, DRADA2, NEDHYMS, RED1
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020174 hsa-miR-130b-3p Sequencing 20371350
MIRT022259 hsa-miR-124-3p Microarray 18668037
MIRT025443 hsa-miR-34a-5p Proteomics 21566225
MIRT025977 hsa-miR-148a-3p Sequencing 20371350
MIRT027945 hsa-miR-93-5p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0003723 Function RNA binding EXP 27065196
GO:0003723 Function RNA binding HDA 22681889
GO:0003723 Function RNA binding IDA 9111310
GO:0003723 Function RNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601218 226 ENSG00000197381
Protein
UniProt ID P78563
Protein name Double-stranded RNA-specific editase 1 (EC 3.5.4.37) (RNA-editing deaminase 1) (RNA-editing enzyme 1) (dsRNA adenosine deaminase)
Protein 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
PDB 1ZY7 , 5ED1 , 5ED2 , 5HP2 , 5HP3 , 6D06 , 6VFF , 7KFN , 8E0F , 8E4X , 9D5J , 9D5K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00035 dsrm 79 141 Double-stranded RNA binding motif Domain
PF00035 dsrm 239 296 Double-stranded RNA binding motif Domain
PF02137 A_deamin 370 731 Adenosine-deaminase (editase) domain Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain and heart and at lower levels in placenta. Fair expression in lung, liver and kidney. Detected in brain, heart, kidney, lung and liver (at protein level). {ECO:0000269|PubMed:18178553, ECO:0000269|PubMed:91492
Sequence
Sequence length 741
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    C6 deamination of adenosine
Formation of editosomes by ADAR proteins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Gastroesophageal Reflux Disease Gastroesophageal reflux disease N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 31491024
Astrocytoma Inhibit 23697632
Ataxia Associate 32719099
Cap Myopathy Associate 18708348
Carcinogenesis Associate 28821813
Carcinoma Hepatocellular Associate 24386085
Carcinoma in Situ Associate 40010639
Carcinoma Squamous Cell Associate 32016472
Chordoma Associate 25673044
Death Associate 32220291, 32719099