What is the official name of the ADAR gene?
The official name of this gene is “adenosine deaminase, RNA-specific.”
ADAR is the gene's official symbol. The ADAR gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the ADAR gene?
- From NCBI Gene:
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 symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
- From UniProt:
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 hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependent activities such as microRNA production or targeting or protein-RNA interactions. Can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing). Its cellular RNA substrates include: bladder cancer-associated protein (BLCAP), neurotransmitter receptors for glutamate (GRIA2) and serotonin (HTR2C) and GABA receptor (GABRA3). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alters their functional activities. Exhibits low-level editing at the GRIA2 Q/R site, but edits efficiently at the R/G site and HOTSPOT1. Its viral RNA substrates include: hepatitis C virus (HCV), vesicular stomatitis virus (VSV), measles virus (MV), hepatitis delta virus (HDV), and human immunodeficiency virus type 1 (HIV-1). Exhibits either a proviral (HDV, MV, VSV and HIV-1) or an antiviral effect (HCV) and this can be editing-dependent (HDV and HCV), editing-independent (VSV and MV) or both (HIV-1). Impairs HCV replication via RNA editing at multiple sites. Enhances the replication of MV, VSV and HIV-1 through an editing-independent mechanism via suppression of EIF2AK2/PKR activation and function. Stimulates both the release and infectivity of HIV-1 viral particles by an editing-dependent mechanism where it associates with viral RNAs and edits adenosines in the 5'UTR and the Rev and Tat coding sequence. Can enhance viral replication of HDV via A-to-I editing at a site designated as amber/W, thereby changing an UAG amber stop codon to an UIG tryptophan (W) codon that permits synthesis of the large delta antigen (L-HDAg) which has a key role in the assembly of viral particles. However, high levels of ADAR1 inhibit HDV replication.
NOTE: UniProt suggests using caution when interpreting this information.
How are changes in the ADAR gene related to health conditions?
- UniProt provides the following information about the ADAR gene's known or predicted involvement in human disease.
Dyschromatosis symmetrica hereditaria (DSH): An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and the dorsal parts of the hands and feet, that appear in infancy or early childhood. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ADAR gene.
- Aicardi-goutieres syndrome 6
- Symmetrical dyschromatosis of extremities
- UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
Where is the ADAR gene located?
Cytogenetic Location: 1q21.3
Molecular Location on chromosome 1: base pairs 154,582,056 to 154,627,998
The ADAR gene is located on the long (q) arm of chromosome 1 at position 21.3.
More precisely, the ADAR gene is located from base pair 154,582,056 to base pair 154,627,998 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ADAR?
You and your healthcare professional may find the following resources about ADAR helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the ADAR gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ADAR?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.