Gene: ADARB1

Alternate names for this Gene: ADAR2|DRABA2|DRADA2|NEDHYMS|RED1

Gene Summary: 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 dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.3

Description of this Gene: adenosine deaminase RNA specific B1

Type of Gene: protein-coding

rs394608 in ADARB1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

rs2838820 in ADARB1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30130595 2018 Pilot genome-wide association study identifying novel risk loci for type 2 diabetes in a Maya population.

rs13047590 in ADARB1 gene and Platinum measurement PMID 31296530 2019 Clinical and Genome-Wide Analysis of Serum Platinum Levels after Cisplatin-Based Chemotherapy.