ADARB1 (adenosine deaminase RNA specific B1)

2012-12-01  

Identity

HGNC
ADARB1
LOCATION
21q22.3
LOCUSID
104
ALIAS
ADAR2,DRABA2,DRADA2,NEDHYMS,RED1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 104
MIM: 601218
HGNC: 226
Ensembl: ENSG00000197381

Variants:

dbSNP: 104
ClinVar: 104
TCGA: ENSG00000197381
COSMIC: ADARB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197381ENST00000348831P78563
ENSG00000197381ENST00000360697P78563
ENSG00000197381ENST00000389863P78563
ENSG00000197381ENST00000437626P78563
ENSG00000197381ENST00000449478A0A0A0MSG8
ENSG00000197381ENST00000492414P78563
ENSG00000197381ENST00000496664P78563
ENSG00000197381ENST00000611195Q8TCX7
ENSG00000197381ENST00000629643P78563

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
mRNA EditingREACTOMER-HSA-75072
mRNA Editing: A to I ConversionREACTOMER-HSA-75064
Formation of editosomes by ADAR proteinsREACTOMER-HSA-77042
C6 deamination of adenosineREACTOMER-HSA-75102

References

Pubmed IDYearTitleCitations
367960222023Core-binding factor fusion downregulation of ADAR2 RNA editing contributes to AML leukemogenesis.3
375446322023Orchestration of a blood-derived and ADARB1-centred network in Alzheimer's and Parkinson's disease.2
367960222023Core-binding factor fusion downregulation of ADAR2 RNA editing contributes to AML leukemogenesis.3
375446322023Orchestration of a blood-derived and ADARB1-centred network in Alzheimer's and Parkinson's disease.2
350442962022Comprehensive interrogation of the ADAR2 deaminase domain for engineering enhanced RNA editing activity and specificity.14
358638672022ADAR2 enzymes: efficient site-specific RNA editors with gene therapy aspirations.6
359152452022Targeting the androgen receptor to enhance NK cell killing efficacy in bladder cancer by modulating ADAR2/circ_0001005/PD-L1 signaling.10
350442962022Comprehensive interrogation of the ADAR2 deaminase domain for engineering enhanced RNA editing activity and specificity.14
358638672022ADAR2 enzymes: efficient site-specific RNA editors with gene therapy aspirations.6
359152452022Targeting the androgen receptor to enhance NK cell killing efficacy in bladder cancer by modulating ADAR2/circ_0001005/PD-L1 signaling.10
327190992021Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.11
331700952021Short-Chain Guide RNA for Site-Directed A-to-I RNA Editing.5
343805022021Developing PspCas13b-based enhanced RESCUE system, eRESCUE, with efficient RNA base editing.7
345356662021ADAR-mediated RNA editing of DNA:RNA hybrids is required for DNA double strand break repair.24
327190992021Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.11

Citation

Dessen P

ADARB1 (adenosine deaminase RNA specific B1)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53086